Showing posts with label Pediatrics. Show all posts
Showing posts with label Pediatrics. Show all posts

01 June 2012

Pediatrics Leccture Notes



Achieving Asthma Success
Harold J. Farber, MD, MSPH
Achieving Asthma Success.ppt

Skittles, Spice, and Special K: The Latest Trends in Substance Abuse
Elaine Fielder, MD
Skittles, Spice, and Special K.ppt

Type 2 Diabetes in Children: a Weighty Problem
Siripoom Vudhipoom McKay, MD
Type 2 Diabetes in Children.ppt

Fever Without Localizing Signs
Coburn Allen, MD
Fever Without Localizing Signs.ppt

Normal Sexual Development
Teresa Duryea, MD
Normal Sexual Development.ppt

A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
A Review of Genetics for the Pediatric Board Exam.ppt

GI/Liver Cross-Cover Issues
Seema Mehta, Ken Ng, Greg Wong
GI/Liver Cross-Cover Issues.ppt

Perinatal Mood & Anxiety Disorders
Jennifer Milone, M.D.
Perinatal Mood & Anxiety Disorders.ppt

Rapid Diagnostic Testing for Pediatric Infections
Armando Correa, MD
Rapid Diagnostic Testing.ppt

The Pediatric Traveler
Heidi Schwarzwald MD MPH
The Pediatric Traveler.ppt

Antibiotic Choices for the Treatment of Common Infections in the Era of Resistance
Armando Correa, MD
Antibiotic Choices.ppt

Role of Pathology in Pediatric Tumor Diagnosis, Management & Prognosis
John Hicks
Role of Pathology in Pediatric Tumor.ppt

Altered Mental Status: An Intensivist’s Approach
Bill Cutrer, MD
Altered Mental Status.ppt

Introduction to Anxiety Disorders
Melissa Ochoa-Perez, M.D.
Introduction to Anxiety Disorders.ppt

Promoting Language and Literacy Development
Teresa Duryea, M. D.
Promoting Language and Literacy Development.ppt

Evidence Based Pediatrics
Virginia A. Moyer, MD, MPH
Evidence Based Pediatrics.ppt

Office Management of Eye Disorders
Tali Ben-Galim MD
Office Management of Eye Disorders.ppt

Evaluation and Management of Fever in Infancy
Manish Shah, MD
Evaluation and Management of Fever in Infancy.ppt

Abdominal Trauma
David de Lemos, M.D.
Abdominal Trauma.ppt

Newborn Screening in Texas
V. Reid Sutton
Newborn Screening in Texas.ppt

Quality and Variation in Medical Practice: Why are Doctors so Different?
Mark W. Shen, M.D.
Quality and Variation in Medical Practice.ppt

Atopic Dermatitis
Nnenna G. Agim, MD
Atopic Dermatitis.ppt

Things That Go Crump in the Night
Jean L. Raphael, M.D./M.P.H.
Things That Go Crump in the Night.ppt

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17 May 2012

Pediatric Emergency Medicine Ppts



Introduction To Epilepsy Semiology diagnosis Treatment
M. Scott Perry, M.D.
Introduction To Epilepsy Semiology diagnosis Treatment .ppt

Snakes, Spiders, and Creatures from the Sea
Adam Algren, MD
Snakes, Spiders, and Creatures from the Sea.ppt

Physical Examination of Patients with Suspected Sexual Abuse
P. Patrick Mularoni M.D.
Physical Examination of Patients with Suspected Sexual Abuse.ppt

Treating Life Threatening Asthma
Toni Petrillo-Albarano, MD
Treating Life Threatening Asthma.ppt

Concussion: return-to-play guideline
Thao M. Nguyen, MD
Concussion: return-to-play guideline.ppt

Highlights from the National Pediatric Infectious Disease Seminar (NPIDS)
Kalpesh Patel, MD
NPIDS.ppt

Evaluation of Altered Mental Status
Kalpesh Patel, MD
Evaluation of Altered Mental Status.ppt

Just an Itch? Beyond Benadryl
Michael Greenwald, MD
Just an Itch? Beyond Benadryl.ppt

Intraosseous Needle Insertion
Kalpesh Patel, MD
Intraosseous Needle Insertion.ppt

Ophthalmologic emergencies
Cecilia Guthrie, MD
Ophthalmologic emergencies.ppt

Emergency Issues in Pediatric Rheumatology
Elivette Zambrana-Flores
Emergency Issues in Pediatric Rheumatology.ppt

Approach to Common Cardiac Emergencies
Agustin E. Rubio, MD
Approach to Common Cardiac Emergencies.ppt

Sedation, Pain, and Analgesia
Ricardo R. Jiménez, MD
Sedation, Pain, and Analgesia.ppt

Code Green: PECC & EEC External Disaster Management
Charles A. Murphy, M.D.
External Disaster Management .ppt

Pediatric Ocular Trauma and Emergencies
Dafina M. Good, MD
Pediatric Ocular Trauma and Emergencies.ppt

Teaching physician rules - Based on Medicare guidelines
Jeffrey Linzer Sr., MD, MICP, FAAP, FACEP
Teaching physician rules.ppt

Nerve Blocks
Steven Lanski, MD
Nerve Blocks.ppt
129 free full text articles

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17 October 2011

Breast feeding presentations



Breast feeding techniques
http://www.sonoma.edu/users/k/koshar/n340/n%20340%20Breast%20feeding.ppt

Breast feeding 
by: Mahdia  Alkony, RN, BSN, MSN
http://elearning.najah.edu/OldData/pdfs/5176Breast%20Feeding%20in%20HP.ppt

Breastfeeding Formulas and other juicy stuff
http://www.medschool.lsuhsc.edu/pediatrics/residents/docs/Breast%20Feeding%20Formula%20Board%20Review.ppt

Infants: The Feeding Relationship
http://www.olemiss.edu/depts/nfsmi/Information/cclessons/infant_feeding.ppt

Breast feeding
by Dr.Nagayeva S
http://www.pitt.edu/~super7/22011-23001/22171.ppt

Managing the Breastfeeding Woman
by SARAH BARTS, RD, LDN, OB/GYN Registered Dietitian
Hospital of the University of Pennsylvania
http://www.uphs.upenn.edu/obgyn/education/documents/Lactationbarts2009.ppt

Newborn behaviors and early interactions 
by Daniel Messinger
http://www.psy.miami.edu/faculty/dmessinger/c_c/Infancy/sessions/i5_neo_abilities.ppt

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09 March 2010

Pediatric Minimally Invasive Surgery



Pediatric Minimally Invasive Surgery
By:Joseph A. Iocono, M.D.
Assistant Professor
Division of Pediatric Surgery
University of Kentucky
Children’s Hospital

Large Operations with Tiny Incisions
Lap Hirschsprung’s pull through 8 weeks post-op pull through

MIS-Advantages
* Cosmesis
+ open operations often leave large, unsightly incisions
+ with some laparoscopic instruments smaller than 2mm in size, it is often difficult to see incisions postoperatively
* Analgesia
o Smaller incisions associated with less pain, lower analgesic use, and quicker recovery.
+ few controlled studies in children, especially in youngest patients
* Adhesions
o several studies suggest the formation of fewer intra-abdominal adhesions after laparoscopic procedures
+ reduces the risk of future postoperative bowel obstructions
+ possibly reduces postoperative pain
* Decreased Ileus
+ Nissen, Appendectomy, Pyloromyotomy, Bowel resection, Spleen
+ Real or perceived?

Pediatric Surgery and MIS
Pediatric Surgeons—already “in the business”
o Small incisions--small scars
o Preemptive anesthesia--decreased pain med needs
o Short hospital stays
o Laparoscopic Cholecystectomy
o Laparoscopic Pyloromyotomy
o First true pediatric MIS procedure
o Laparoscopic appendectomy
o Laparoscopic Nissen Fundoplication
o Laparoscopic Splenectomy

MIS—What’s So Great?
* Why Bother?
o Additional expense
o Prolonged procedures
o Lack of tactile evaluation
o Loss of depth perception
o Complications specific to MIS
“After an advanced MIS case, the patient goes home and the surgeon goes to the ICU”
* Expense
* Length of Procedures
From Curiosity to Standard of Care—How?
o Procedure Driven
o Patient (parent) Driven
o Technology Driven
o Physician Driven
o Care Driven --“re-think” care

Technology – Smaller and Better
Ligation Monopolar Bipolar, harmonic
Instruments 10 mm 3 mm (disposable) (reusable)

Technology
MIS – Indications
* General Indications
* New procedures Developed rapidly
Partial list of described MIS procedures in Children
Achalasia (1) Adhesive Small Bowel Obstruction
Adrenal Tumors (1) Appendicitis (25)
Biliary Atresia Cholelithiasis (5)
Chronic Abdominal Pain (2) Chronic Constipation (ACE procedure) (5)
Crohn’s Disease (2) Diaphragmatic Hernia (1)
Duodenal Atresia Empyema
Gastroesophageal Reflux (25) Gastrostomy Tube Placement (20)
Hirschsprung’s Disease (2) Benign Kidney Disease
Lung tumor (4) Malrotation (1)
Meckel’s Diverticulum Mediastinal Pathology (1)
Ovarian Torsion and Cysts (2) Pancreatic Pseudocyst
Pectus Excavatum (4) Placement of VP Shunt
Pyloromyotomy (32) Recurrent Pneumothorax (1)
Splenic Pathology (5) Tracheoesophageal Fistula
Undescended Testicle (6) Ulcerative Colitis (1)
Urinary Reflux Inguinal Hernia (recurrent) (1)
Patent ductus arteriosus Peritoneal Dialysis access

MIS in Pediatric Surgery
* Indications
* Procedure
* Complications
* Changes in Care
* Controversies
* Cholecystectomy
* Nissen Fundoplication
* Appendectomy
* Splenectomy
* Intestinal Resection
* VATS
* Inguinal Hernias
* Pyloromyotomy
* Hirschsprung’s Pull Through
* Ladd’s Procedure
* Pectus Excavatum- Nuss Procedure
* Congenital Diaphragmatic Hernia

Cholecystectomy--1991

* Indications
* Procedure
* Complications
* Changes to Care
* Controversies
* Gold Standard
* Complications
* Changes to Care
* Controversies

Port size/use
1. 5mm--camera
2. 3mm--liver retractor
3. 5mm--dissection (G-tube)
4. 3mm--dissection
5. 3mm---retraction (optional)

Appendectomy--1992
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Splenectomy--1998
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Intestinal Resection
* Indications
* Procedure- 2 ways
* Complications
* Changes to Care
* Controversies
Optional Incisions
Thoracoscopy-VATS
* Indications
o Empyema Blebs
o Wedge Biopsy Anterior Spine
o Mediastinal cysts Thymectomy
* Procedure
o 3 ports, low pressure CO2
* Complications
o Conversion rate high
* Changes to Care
o Insufflation better
o Faster recovery
o Start chemo earlier
* Controversies
o Ability to “feel’ lung.

Inguinal Hernias
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Pyloromyotomy-1991
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Pull-through for Hirschsprung’s--1995
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Ladd’s Procedure for Malrotation--1997
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Nuss Procedure for Pectus Excavatum --1995
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies
o Need for scope?

Diaphragmatic Hernia
* Indications
* Procedure
* Complications
* Changes to Care
* Controversies

Pediatric Minimally Invasive Surgery
* Conclusions
o Surgeon must decide whether a minimally invasive approach is the safest and most appropriate procedure.
o Must convert to an open procedure at any time that the risks are greater than those of the open technique.
o Must increase his/her repertoire of MIS cases as skills improve.
o Must stay informed about new techniques, tools, and indications and complete CME in order to gain needed training.

Teaching Minimally Invasive Surgery
* Education
* Solution--basic skills need to be mastered

Who gets MIS Procedures and
When do I refer to Pediatric Surgery?
* Who?
* When?
* How?

Future Directions
* Limitations of current MIS technology
* Solution---daVinci operative system
* Ready for Pediatric MIS? Yes Infant MIS? Not quite

Final Thoughts
“Five years ago it would have been unthinkable that an [entire] issue of Seminars in Pediatric Surgery would be discussing intracorporeal anastomoses after intestinal resections and laparoscopic pull-through for high imperforate anus. Yes it is likely that we are only in the infancy of the development of laparoscopic surgery in our patients…Several pediatric surgeons are involved with experimentation and development with robotic surgery…Certainly, it will make intestinal anastomoses easier and make [more complicated] procedures such as portoenterostomy [Kasai procedure] more feasible.”

Pediatric Minimally Invasive Surgery.ppt

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10 July 2009

Pediatric Malignancies



Pediatric Malignancies
By:Jan Bazner-Chandler
CPNP,MSN, CNS, RN

Pediatric Malignancies
Causes
* Genetic alteration
* Environmental influences
* No know prevention
* Metastasic disease
Response to Treatment
Classification of Tumors
Cardinal Signs of Cancer
* Unusual mass or swelling
* Unexplained paleness and loss of energy
* Spontaneous bruising
* Prolonged, unexplained fever
* Headaches in morning
* Sudden eye or vision changes
* Excessive – rapid weight loss.
Diagnostic Tests
* X-ray
* Skeletal survey
* CT scan
* Ultrasound
* MRI
* Bone marrow aspiration
Biopsy
* Identify cell to determine type of treatment
Treatment Modalities
* Determined by:
o Type of cancer
o Location
o Extent of disease

Surgery
Radiation Therapy
Chemotherapy
Administration
Goals of Chemotherapy
Chemotherapy Drugs
Bone Marrow Transplant
Gene Therapy
Management of Cancer
Pain Management
Pain Control
Immunosuppression and Infection
Neutropenia
Treatment of Neutropenia
Varicella
Varicella Immunizations
Central Venous Access Devices
CVAD Infection Prevention
Chemotherapy Side Effect
Management of Side Effects
Malnutrition
Nutrition Interventions
Nausea and Vomiting Interventions
Mucositis Interventions
Constipation
Diarrhea
Hair Loss
Psychosocial Support
Growth and Development
Leukemia
Prognosis
Diagnosis
Peripheral Blood Smear
Bone Marrow
Acute Lymphoid Leukemia
3 Phase Treatment
Induction Therapy
CNS Therapy
Nursing Interventions
Leukemia Time Line
CNS Tumors
Management
Brain Tumors
Astrocytoma
Large right frontal lobe
neoplasm with small area of necrosis
Hodgkin's Disease
Treatment
Long Term Side Effects
Neuroblastoma
Wilm’s Tumor
CT Scan Wilm’s Tumor
Osteogenic Sarcoma
Osteosarcoma Tumor
Limb Salvage
Ewing Sarcoma
Rhabdomyosarcoma
Treatment
Retinoblastoma
Pupil reflex
“Cat Eyes”

Pediatric Malignancies.ppt

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16 June 2009

Pediatric Neurology



Pediatric Neurology
Topics
* Lecture 1
o Clinical duties of neurologists and pediatric neurologists
o Neonatal and developmental neurobiology (normal development and congenital malformations of the CNS)
* Lecture 2
o Developmental disorders (cerebral palsy, mental retardation)
o The Floppy Infant: Hypotonia

Developmental Milestones
CATEGORY EXAMPLE
Gross motor sitting, walking
Fine motor manipulate toys, utensils
Personal-social play, imitate housework
Language speech acquisition
Normal Motor Function
Abnormal Motor Function
Developmental Case #1
Physical Findings
CT Scan
Pathology and Pathophysiology
Diagnosis
* Obstructive hydrocephalus, due to stenosis of the cerebral aqueduct
* Other congenital causes
o Chiari malformation
o Dandy-Walker malformation
* Acquired causes
o Post-meningitis
o Post-traumatic
o Tumor
Hydrocephalus Treatment
Prognosis
* Cognitive and motor handicaps
* Complications of shunt system
o Shunt failure
o Shunt infection
* Epilepsy
Developmental Case #2
Fetal Ultrasound
Fetal Autopsy
Diagnosis
Developmental Pathology
Prognosis
Related Conditions
Encephalocele
Anencephaly
Prevention:
Folic Acid

Pediatric Neurology.ppt

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10 June 2009

Expanded Newborn Screening: The Nutrition Perspective



Expanded Newborn Screening: The Nutrition Perspective
By:Beth Ogata, MS, RD

Nutrition Involvement in NBS
* Policy
* Diagnostic/coordination
* Clinical
* Community
Example: infant with galactosemia
* Symptoms in newborn, if untreated
o Vomiting, diarrhea
o Hyperbilirubinemia, hepatic dysfunction, hepatomegaly
o Renal tubular dysfunction
o Cataracts
o Encephalopathy
o E. coli septicemia result
o Death within 6 weeks, if untreated
o Duarte variant
o galactokinase deficiency
o uridine diphosphate-galactose-4-epimerase deficiency
Galactose-1-phosphate uridyl transferase (GALT) deficiency
Example: infant with galactosemia
* Primary source is milk (lactose= galactose + glucose)
* Secondary sources are legumes
* Minor? sources are fruits and vegetables
* Food labels
o milk, casein, milk solids, lactose, whey, hydrolyzed protein, lactalbumin, lactostearin, caseinate
* Medications (lactose is often an inactive ingredient)
* Dietary supplements
* Artificial sweeteners
Monitoring: galactose-1-phosphate levels <3-4 mg/dl
Treatment: eliminate all galactose from diet

Example: Infant with galactosemia
DIAGNOSIS & COOORDINATION
CLINICAL MANAGEMENT
RD as case manager
Nutrition and NBS: Policy
Nutrition and NBS: Clinical Management – PKU
* Phenylketonuria
o Phenylalanine hydroxylase
o Dihydropteridine reductase
o Biopterin synthetase
* Establish diagnosis
o Presumptive positive NBS results
+ > 3 mg/dL, >24 hrs of age
o Differential diagnosis
+ serum phe, nl tyr
+ r/o DHPR, biopterin defects

Current Treatment Guidelines
* With effective NBS, children are identified by 7 days of age
* Initiate treatment immediately
* Maintain phe levels 1-6 mg/dl (60-360 umol/L)
* Lifelong treatment
Outcome Expectations
Clinical Management: PKU
Goals of Nutrition Therapy
* Normal growth rate
* Normal physical development
* Normal cognitive development
* Normal nutritional status
* Correct substrate imbalance
* Supply product of reaction
o Supplement tyrosine to
Goals of Nutrition Support for Phenylketonuria (PKU)
Interpretation of phenylalanine levels
Adjustments necessary to maintain “safe” blood phe levels
Management Tools
Formula Composition
* Regulated by FDA
o Renal solute load
o Carbohydrate source
o Fat source
o Amino acid source
o Vitamin and mineral content
* Designated by clinician
o Protein/energy ratio
o Specific amino acid
o Fluid balance
o Total protein
o Total energy
Effect of a single amino acid deficiency on growth
Food Choices for PKU
Tools of Management: Low protein food products
Typical Food Pattern for a Child with PKU
Monitoring Adequacy of Treatment
Effective Blood Level Management in Childhood
Self-management Skills
Goal of Lifetime Management of PKU
Maternal PKU Concerns/Outcomes
Nutrition and NBS: Community – Glutaric Acidemia, type I
Glutaryl-CoA dehydrogenase deficiency
Example: Infant with GAI
Nutrition and NBS: Community
The baby has a “positive PKU test
Critical Questions about Follow-up and Coordination of Treatment
What you need to know
Caveats to Ponder

Expanded Newborn Screening: The Nutrition Perspective.ppt

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Quick Reference to Newborn Screening Disorders



Quick Reference to Newborn Screening Disorders

Biotinidase Deficiency - BIOT is an enzyme deficiency that occurs in about 1 in 60,000 U.S. newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin.

Congenital Adrenal Hyperplasia – 21-Hydroxylase Deficiency - CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 9,000 Texas newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.

Congenital Hypothyroidism Inadequate or absent production of thyroid hormone results in CH and is present in about 1 in 2,000 Texas newborns. Thyroid hormone replacement therapy begun by 1 month of age can prevent mental and growth retardation.

Galactosemia – Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency - Failure to metabolize the milk sugar galactose results in GAL and occurs in about 1 in 50,000 U.S. newborns. The classical form detected by newborn screening can lead to cataracts, liver cirrhosis, mental retardation and/or death. Treatment is elimination of galactose from the diet usually by substituting soy for milk products.

Homocystinuria - HCY is caused by an enzyme deficiency that blocks the metabolism of an amino acid that can lead to mental retardation, osteoporosis and other problems if left undetected and untreated. The incidence is approximately 1 in 350,000 U.S. newborns. Treatment may involve a restricted protein diet and supplemental medicines, including Vitamin B6.

Maple Syrup Urine Disease (MSUD) - MSUD is a defect in the way that the body metabolizes certain amino acids and is present in about 1 in 200,000 U.S. newborns. Early detection and treatment with a restricted protein diet can prevent death and severe mental retardation. There is an increased risk in Mennonites.

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency - The most common disorder in the way the body metabolizes fatty acids is called MCAD deficiency. Undetected, it can cause sudden death. Treatment is simple and includes ensuring frequent food intake. The incidence from newborn screening is not yet known, but is thought to be approximately 1 in 15,000 U.S. newborns.

Phenylketonuria (PKU) - An enzyme defect that prevents metabolism of phenylalanine, an amino acid essential to brain development, is known as PKU and occurs in approximately 1 in every 23,000 Texas newborns. Undetected and untreated with a special restricted protein diet, PKU leads to irreversible mental retardation.

Sickle Cell Disease (SCD) – includes Sickle Cell Anemia (Hb SS), Sickle Beta Thalassemia (Hb S/?Th) and Sickle-Hemoglobin C Disease (Hb S/C) - Sickle cell anemia is the most prevalent SCD and causes clogged blood vessels resulting in severe pain and other severe health problems. Newborn screening detects about 1 in 2,500 Texas newborns with SCD annually. Persons of African or Mediterranean descent are at an increased risk. Early treatment with daily penicillin prevents death in the first few years of life.

Tyrosinemia Type I -TYR is caused by a deficiency in the liver of one enzyme that breaks down tyrosine. If not treated, the condition causes severe liver disease and other health problems. Treatment consists of medication including vitamin D and nitisinone, and a special restricted protein diet. Estimated incidence is 1 case in every 100,000 live births.

Fatty Acid Oxidation (FAO) Disorders include Carnitine Uptake Defect (CUD), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Trifunctional Protein Deficiency (TFP) and Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD) - Disorders besides MCAD deficiency, other FAO disorders may be detected through newborn screening. They are usually described in categories based on the length of the fatty acid involved. Undetected and untreated they can cause seizures, coma, and even death. Treatment may include a low fat diet, frequent food intake, supplementation with L-Carnitine (Carnitor) and medium chain triglycerides.

Organic Acid (OA) Disorders include 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC), Beta-Ketothiolase Deficiency (BKD), Glutaric Acidemia Type I (GAI), Hydroxymethylglutaric Aciduria (HMG), Isovaleric Acidemia (IVA) Methylmalonic Acidemia(MMA) (Cbl A and Cbl B forms) ( Cbl A,B), Methylmalonic Acidemia (mutase deficiency form) (MUT), Multiple Carboxylase Deficiency (MCD) and Propionic Acidemia (PROP) - Organic acidemias are a group of metabolic disorders that lead to accumulation of organic acids in the blood and urine and may be detected in newborn screening through analysis of acylcarnitine profiles. Symptoms can be diminished by restricting protein in the diet and supplementation with vitamins and/or L-Carnitine.

Urea Cycle Disorders (UCD) include Argininosuccinic Acidemia (ASA) and Citrullinemia (CIT) - A UCD is a genetic disorder caused by a deficiency of one of the enzymes responsible for removing ammonia from the blood stream. Some UCDs may be detected as a part of newborn screening. They are characterized by seizures, poor muscle tone, respiratory distress, and coma, and result in death if left undetected and untreated. Treatment is by a special restricted protein diet and medications including phenylbutyrate to remove ammonia.

Quick Reference to Newborn Screening Disorders.ppt

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What’s New in Newborn Screening



What’s New in Newborn Screening
By:Kathy Tomashitis, MNS, RD
Pediatric Screening Coordinator
Division of Women and Children’s Services, SC DHEC

Newborn Screening Expansion
* Newborn screening began in South Carolina in the mid-1960’s with testing for phenylketonuria (PKU)
* Over the years, the test panel has expanded as improvements in technology occurred and as research indicated benefit of pre-symptomatic detection for specific disorders

Newborn Screening-Why Expand the Test Panel
* Several factors have lead to the current expansion
o Technological advances: increased use of tandem mass spectrometry (MS/MS) in newborn screening applications and improvement in the screening protocol for cystic fibrosis
o NO ADDITIONAL BLOOD NEEDED!
o Improved morbidity/mortality: research supports improved outcomes for pre-symptomatic identification of cystic fibrosis as well as disorders found through MS/MS; research has long recognized benefit of screening for biotinidase deficiency
o Cost benefit: research supports pre-symptomatic identification of fatty acid, amino acid and organic acid disorders found through MS/MS
* SC health care providers support expanded screening
o Survey of all newborn health care providers in SC conducted in 11/00: top three conditions recommended for expansion include cystic fibrosis, LCHADD ( a fatty acid oxidation disorder) and biotinidase deficiency
o Newborn Screening Advisory Committee recommended step-wise expansion to include cystic fibrosis, biotinidase deficiency and disorders found through MS/MS
* Growing awareness in disparity across states in conditions included in newborn screening test panel
* Expansion would provide SC infants with one of the most comprehensive test panels in US
* Consumer groups such as the March of Dimes support expanded test panels

Newborn Screening Expansion
* Current test panel includes screening for PKU, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia (CAH), medium chain acyl co-A dehydrogenase deficiency (MCADD) and hemoglobinopathies
Newborn Screening Expansion-Cystic Fibrosis
* Cystic fibrosis is a genetic disorder that is found in 1:3500 Caucasian and 1:17,000 African American births
* CF is a recessive genetic disorder. Risk of recurrence is 1:4 with each pregnancy.
* In CF, the pulmonary and gastrointestinal systems are severely compromised.
* Fluids that are normally thin and slippery become thick and sticky
* Infections are treated aggressively
* Chest physiotherapy used to clear lungs
* Pancreatic enzymes used to aid digestion
* Screening will include measurement of immunoreactive trypsinogen (IRT)
* If the IRT is above a set level, a repeat IRT will be requested.
* If the IRT is still above normal limits on the second specimen, the infant will be referred to a CF center for sweat testing
* Sweat testing is still the “gold standard” for confirmation
* DNA testing for the most common CF mutations may be added to the screening protocol in the future

Newborn Screening Expansion-Biotinidase Deficiency
* Biotinidase deficiency is a recessive genetic disorder with a prevalence of 1:60,000 births (ethnic difference in prevalence not established)
* Like CF, risk of recurrence is 1:4 with each pregnancy
* Affected infants cannot utilize biotin, a vitamin found in foods, including breastmilk and infant formula
* Leads to developmental delay, seizures, hair loss, hearing loss, skin disorders and immunodeficiency
* Treated by giving infant biotin in the form of a crushed pill or capsule mixed into milk or food
* Screening will involve direct measurement of biotinidase
* False positive rates should be low

Newborn Screening Expansion-Fatty Acid, Amino Acid and Organic Acid Disorders
* Fatty acid, amino acid and organic acid disorders are individually rare, but occur with a combined frequency of 1:5000 to 1:6000 births
* Screening will include measurement of an acyl carnitine profile and an amino acid profile
* MS/MS is very precise, but interpretation is complex
* REMINDER--MS/MS can identify many, but not all metabolic disorders

Newborn Screening Expansion-Fatty Acid Disorders
* Most common FA disorder—MCADD—is part of the current test panel
* Expansion will add seven additional FA disorders
* All are recessive genetic disorders so risk of recurrence is 1:4 with each pregnancy
* Symptoms of most FA disorders
o Hypoketotic hypoglycemia
o Muscle weakness
o Seizures
o Sometimes cardiomyopathy
* Treatment of most FA disorders
o Avoid fasting
o Immediate medical attention when unable to eat usual diet
o Control type/amount of fat in diet depending upon the specific diagnosis
o Carnitine if indicated
o Cornstarch tube feeding at night if indicated
o Ensure immunizations are up-to-date
o Treat infections promptly
o All patients should keep an “emergency protocol” letter with them at all times
* Short chain acyl co-A dehydrogenase deficiency (SCADD)
o Estimated incidence is 1:40,000 to 1:100,000
o Outcomes of known patients highly variable, but may be less severe than other FA disorders
* Long chain 3 OH co-A dehydrogenase deficiency/Trifunctional protein defect (LCHADD/TFP)
o Unknown incidence
o Differential diagnosis needed to separate LCHADD from TFP
o Cardiomyopathy and retinal changes
o HELLP/AFLP in 20% of affected pregnancies
* Very long chain acyl co-A dehydrogenase deficiency (VLCADD)
o Unknown incidence
o Some infants have cardiomyopathy
o Good outcome when treated presymptomatically
* Glutaric aciduria type II (GA II)
o Not thought to be rare, but incidence unknown
o Outcomes variable based upon phenotype
o Riboflavin supplementation useful in some mild cases
* Carnitine Palmitoyltransferase II deficiency (CPT II)
o Unknown incidence
o Muscle weakness, pain and myoglobinuria prompted by prolonged exercise
o 80% affected patients have been male
o Cardiac dysfunction rare
* Carnitine/acylcarnitine translocase deficiency (CACT)
o Thought to be very rare
o Long term outcome not clearly known
* Expansion will add eleven OA disorders
* Most are recessive disorders so risk of recurrence is 1:4 with each pregnancy
* A few sub-types are X-linked so only males are affected, but females may show milder symptoms
* Symptoms of most OA disorders
o Feeding problems
o Seizures
o Metabolic acidosis
o Lethargy
* Treatment of most OA disorders
o Avoid fasting
o Immediate medical attention when unable to eat usual diet
o Control type/amount of protein in diet depending upon the specific diagnosis
o Carnitine if indicated
* Propionic acidemia (PA)
o Estimated incidence is 1:100,000
o Oral antibiotics may be useful to decrease gut propionate
o Biotin if helpful
o Continuous overnight feeds helpful in some patients
* Methylmalonic acidemia (MMA)
* Isobutyrul co-A dehydrogenase deficiency (IBCDD)
o Thought to be very rare
* Isovaleric acidemia (IVA)
* 2 methylbutyryl co-A dehydrogenase deficiency (2-MBCDD)
* 3 methylcrotonyl co-A carboxylase deficiency (3-MCC)
* Beta ketothiolase deficiency
* 3 methyl 3-OH glutaryl co-A lyase deficiency (HMGLD)
* 3 methylglutaconyl co-A hydratase deficiency

Newborn Screening Expansion-Organic Acid Disorders
* Multiple carboxylase deficiency (MCD)
o Estimated incidence is 1:87,000
o Diet restriction NOT indicated
o Most cases are biotin responsive
o Biotin enhances the function of the carboxylase enzymes
o Not the same as biotinidase deficiency!
* Glutaric aciduria type I (GA I)
o Estimated incidence is 1:40,000
o Very important to proceed directly to diagnostic testing with any elevation
o Must treat fever aggressively
o Hospital admission mandatory for IV’s with any vomiting illness
o Prone to subdural hemorrhages and retinal hemorrhages after minor head trauma (ie, fall when learning to walk)
o Can be misdiagnosed as child abuse
o May have profuse sweating


Newborn Screening Expansion-Amino Acid Disorders
* Most common AA disorder—PKU—is part of the current test panel
* Expansion will add four additional AA disorders
* All are recessive genetic disorders so risk of recurrence is 1:4 with each pregnancy
* Symptoms and treatments vary by disorder
* Homocystinuria
* Maple syrup urine disease (MSUD)
* Citrullinemia
* Argininosuccinic aciduria
Testing and Follow-up
Challenges in Ensuring Complete Follow-up

What’s New in Newborn Screening.ppt

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Newborn Screening



Newborn Screening
By:Dietrich Matern, M.D., FACMG
Biochemical Genetics Laboratory
Mayo Clinic College of Medicine
Rochester, MN

Objectives
• Demonstrate a deeper understanding of newborn screening (NBS);
• Be aware of available tools to react appropriately to abnormal results.
* What is Newborn Screening?
* Impact on Medical Practice
* What’s next in newborn screening?

Outline
What is Biochemical Genetics?
To achieve early detection and prevention of disease, Biochemical Genetics has a strong emphasis on screening based upon the analysis and interpretation of metabolic profiles in body fluids and tissues:

* Prenatal diagnosis (at risk patients)
* Newborn screening (pre-symptomatic patients)
* High risk screening (symptomatic patients)
* Postmortem screening (metabolic autopsy)

Newborn Screening
* aimed at identification of conditions for which early intervention can prevent
- mortality
- morbidity
- disabilities
* performed by analysis of diagnostic markers in blood spots collected on filter paper on the second day of life

Treatment: Phe-restricted diet
Prognosis: excellent with initiation of treatment shortly after birth
The Traditional NBS Model (Testing as SIMPLE as Possible)

MCAD Deficiency
Drivers of Expansion
Acylcarnitine Analysis
NBS by MS/MS (Multiplex Testing)
Primary Evaluation Criteria of Conditions Considered for Newborn Screening
SECONDARY TARGETS
Impact on Medical Practice Pediatrics/Family Medicine only?
Case Report
Maternal Disease Identified by Newborn Screening
CONCLUSIONS
2nd Tier Tests
Changing CAH Screening in MN
Partial List of Candidate Conditions
Familial Hypercholesterolemia
Conclusions

Newborn Screening.ppt

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Newborn Screening in Wisconsin



Newborn Screening in Wisconsin

What Is Newborn Screening?

* Newborn screening is the process of testing a population of newborns to identify those affected with certain treatable disorders early on, preventing potentially serious medical complications
* Newborn screening programs include:
o Testing - Treatment
o Follow-up - Education for parents/providers
o Confimatory Diagnosis


* Every state in the US has a newborn screening program
* No federal guidelines for newborn screening
* Newborns in WI are screened for “48” different disorders, including hearing
* Screening decreases morbidity and mortality, and increases quality of life for babies with these disorders
* Testing and parental notification are required by state law
* Requires that parents be informed of testing
o “No tests may be performed…unless the parents or legal guardian are fully informed of the purposes of testing…and have been given reasonable opportunity to object…”
* Parents may refuse based on religion
o “This section shall not apply if the parents… object...on the grounds that the test conflicts with their religious tenets and practices

Why Is Newborn Screening Done?
* Early identification and treatment of newborns affected with certain congenital disorders can prevent serious medical complications
* Cannot test for every congenital disorder; Criteria for testing must be met

Newborn Screening Criteria
* Occurs in at least 1/100,000 births
* Detection in the neonatal period leads to a demonstrable reduction in morbidity and mortality
* Potential for effective therapy
* Reasonable cost
* Laboratory feasibility
* Because PKU was the first disorder screened for, newborn screening is sometimes mistakenly called the “PKU test”

“PKU TEST”
How Are Samples Taken?
* Heel prick
* Fill all circles and allow card to dry completely
* Send cards to State Laboratory of Hygiene within 24 hours of collection
* Samples are run the day they are received
* Specimens with all normal results available within 48 hours
* Color scheme used for reports
o White paper = normal results
o Gold paper = definite abnormal
o Blue paper = possible abnormal

Results Reporting
* Physician is contacted immediately whenever a result is abnormal
o Physician contacts the parents and arranges any follow-up testing necessary
o Immediate notification important for treatment in some disorders

Newborn Screening in Wisconsin.ppt

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10 May 2009

Respiratory Distress in Newborn



Respiratory Distress in Newborn
Presentation lecture by:Leena Mane and Rhea Mane


Case study:

* A male infant weighing 3000 g (6 lb 10 oz) is born at 36 weeks' gestation, with normal Apgar scores and an unremarkable initial examination. At 48 hours of age he is noted to have dusky episodes while feeding, and does not feed well. On repeat examination the child is tachypneic, with subcostal retractions. Lung sounds are clear and there is no heart murmur.

What Next ?
Tests & labs…

* Pulse oximetry on room air is 82%.
* Arterial blood gases on 100% oxygen show a pCO2 of 26 mm Hg (N 27-40), a pO2 of 66 mm Hg (N 83-108),
* blood pH of 7.50 mg/dL (N 7.35-7.45), and a base excess of -2 mmol/L (N -10 to -2).
* Hemoglobin- 22.0g/dl (N13.0- 20.0)
* Hematocrit- 66 % (N 42- 66)
* WBC- 19,000/mm3 (N9000-30,000)
* Blood cultures- Pending.
* Chest X-ray- Increased vascular marking, Large thymus.


Most likely diagnosis
* 1- Transient tachypnea of newborn
* 2- Congenital heart disease
* 3- Hyaline membrane disease
* 4- Neonatal sepsis
* 5- Hyperviscosity syndrome

Transient Tachypnea of Newborn
* Most common cause of respiratory distress.
* 40% cases.
* Residual fluid in fetal lung tissues.
* Risk factors- maternal asthma, c- section, male sex, macrosomia, maternal diabetes

TTN

* Tachypnea immediately after birth or within two hours, with other predictable signs of respiratory distress.
* Symptoms can last few hours to two days.
* Chest radiography shows diffuse parenchymal infiltrates, a “ wet silhouette” around heart, or intralobar fluid accumulation

X-ray
Fluid in the fissure
Respiratory Distress Syndrome
RDS
Meconium Aspiration Syndrome
Infections
Other causes-
Congenital Heart disease
Hyperoxia Test
Treatment
Transient Tachypnea of Newborn
Respiratory distress Syndrome
Meconium Aspiration Syndrome
Algorithm
Evaluation
Treatment

Respiratory Distress in Newborn.ppt

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07 May 2009

CERVICAL SPINE INJURY: PEDIATRICS



CERVICAL SPINE INJURY: PEDIATRICS
Presentation by:LEONARD E. SWISCHUK, M.D.
THE UNIVERSITY OF TEXAS MEDICAL BRANCH
GALVESTON, TX


CHILDHOOD INJURIES LESS COMMON THAN IN ADULTS
MORE INJURIES OCCUR IN THE UPPER CERVICAL SPINE IN INFANTS AND YOUNG CHILDREN WHY ?
APEX OF THE FLEXION CURVE IN UPPER SPINE
DIVIDE PATIENTS BY AGE GROUP
PREVERTEBRAL SOFT TISSUES
* Buckling and pseudothickening
* Full inspiration-extension
* Pharyngeal-tracheal stepoff
* Don’t spend too much time

OTHER PROBLEMS
* Infant and children are hypermobile
o Physiologic motion may be pronounced
* Immature spine
o Synchondroses, etc.

DENS FRACTURES

* Occur through dens body synchondrosis in infants
* In infants, not the same as in adults
* Fragmented os terminale, pseudo fracture
* Os odontoideum pseudo fracture

DENS FX ANTERIOR
OS TERMINALE
FRAGMENTED OS TERMIONALE NORMAL
PSEUDO FX OS ODNTOIDEUM
HANGMAN FRACTURES
* These occur in infants
* Heavy head is the mechanism
* Differentiate from congenital defects

CONGENITAL DEFECT
C2 SYNCHONDROSES (PSEDUOFRACTURES)
* Dens-body
* Dens-neural arch
* Oblique view
* CT-parasagittal view
* Aberrant synchondroses

FLEXION – ROTATION INJURIES
* Same as in adults
* Usually mid cervical spine
* Usually older children

FX WEDGING ANT HYPERFLEX
NORMAL ANTERIOR WEDGING
ANTERIOR SUBLUXATION (Physiologic)
HYPEREXTENSION INJURIES
WIDE DISC HYPEREXTENSION AND FX
FX POSTERIOR ARCH C1
CONGENITAL DEFECT POST ARCH C1
DISLOCATION C1 – C2
* Relatively uncommon overall
* Requires severe injury
* Can be seen in infants
* May disrupt blood supply to os terminale
DISLOCATION C1-C2
PREDENTAL DISTANCE
PREDENTAL DISTANCE 5 MM EXTENSION NORMAL
SAME PATIENT FLEXION 5MM NORMAL
RULE OF 2
INTERSPINOUS DISTANCE C1, C2
ABNORMAL C1-C2 DISLOCATION
NORMAL NO DISLOCATION
AXIAL LOAD INJURIES
* Same as in adults
* Usually older children

JEFFERSON FRACTURES
* Very rare in infants
* Differentiate from synchondroses

JEFFERSON FX
JEFFERSON FRACTURE
SYNCHONDROSES NORMAL
NORMAL - PSEUDO OFF SET - UP TO 2 YTS
INFANTS AND CHILDREN ARE HYPERMOBILE
TORTE COLLIS

SUGGESTED READING
* Platzer P, Manuela J, Thalhammer G, et al: J Trauma 62:389-396, Feb. 2007.
* Apple JS, Kirks DR, Merten DF, et al: Pediatr Radiol 17:45-49, 1987.
* Hadley MN, Babramski JM, Browner CM, et al: J Neurosurg 68:18-24, 1988.
* “Imaging of the Cervical Spine in Children” Swischuk, LE, 2002 Springer-Verlag, New York, pgs. 75-121.

CERVICAL SPINE INJURY: PEDIATRICS.ppt

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Management of the Febrile Infant



Management of the Febrile Infant
Theodore C. Sectish, MD
Director, Residency Training Program in Pediatrics
Assistant Professor in Pediatrics
Stanford University School of Medicine

Fever in Infants
Learning Objectives:

* Fever in infants and outcomes of fever
* Evaluation of the febrile infant
* Modified Clinical Practice Guideline
* Guidelines and Practice
* New considerations
* Management of Fever without Source - 2001

Historical Perspective

* 1967 Occult bacteremia
* 1970s Hospitalization of febrile infants
* 1980s Outpatient management
* 1985 HIB Vaccine
* 1993 Clinical Practice Guideline
* 2000 PCV7 Vaccine
Fever in Practice

Diagnoses: Febrile Infants < 3 months

* URI 35.0%
* Otitis media 16.1%
* Bronchiolitis 8.4%
* Gastroenteritis 7.8%
* Urinary tract infection 4.7%
* Viral meningitis 2.7%
* Bacteremia 1.5%
* Bacterial meningitis 0.3%
* Cellulitis 0.2%
* Osteomyelitis 0.04%

Fever without Source (FWS)

* 20% of all infants <3 years with fever have FWS
* 3% have occult pneumococcal bacteremia
o Of bacteremic infants, 3% have meningitis
o 1 out of 1000!
* Risks of pneumococcal bacteremia in a PCV7 immunized infant is unknown
* Risk reduction estimate once immunized: 90%

Definition of Fever

* 38.00 C
* Rectal measurement
* Unbundled infant
* No recent antipyretics
* No recent immunizations

Bundling and Fever

* Experimental design with controls
* Bundling = 5 blankets and a hat
* 20 bundled infants: mean change + 0.560 C
* 20 infant controls: mean change - 0.040 C
* 2 infants reached 38.0 C, not higher

Febrile Infants: Outcomes of Interest
Serious Bacterial Infection (SBI)

* Urinary tract infection
* Sepsis or bacteremia
* Meningitis
* Bacterial enteritis
* Bone and joint infections
* Pneumonia
Probability of Bacterial Infection in Febrile Infants, <90 Days of Age
Probability of Occult Bacteremia: Febrile Infants, 3 - 36 months
Outcomes of Occult Bacteremia in the Age of Hemophilus
Occult Bacteremia in the Post-HIB Vaccine Era: 3-36 months
* Streptococcus pneumoniae 92%
* Others: 8%
o Salmonella sp
o N meningitidis
o Group A Streptococcus
o Group B Streptococcus
Outcomes of Outpatients with Pneumococcal Bacteremia

* 548 episodes in an ER population
* Treatment strategies varied:
o No antibiotics (N = 73)
o Oral antibiotics (N = 239)
o Parenteral antibiotics (N = 236)

Reevaluation of Outpatients with Pneumococcal Bacteremia
Conclusions
How Do Clinicians Evaluate Febrile Infants?
Evaluation of the Febrile Infant
* Careful history
* Physical examination
* Selected laboratory tests

Evaluation of the Febrile Infant

* Age
* Toxicity
* Decisions to test, to treat, to admit
* Evaluate:
o Vital signs
o Skin color
o Behavior
o State of hydration
* Document carefully and convey a clear picture of the overall clinical appearance of the patient.
* Perform a complete physical exam with particular attention to:
o Skin: for petechiae / purpura, rashes
o Oropharynx: for signs of gingivostomatitis/herpangina
o Pulmonary examination: for occult pneumonia
o Bones, joints and soft tissues: for infection
* Consider the history of fever as correct in all reported measured temperatures

What is “Toxic”?
It is a very difficult task to define “toxic”; the closest I can come to a definition is to say that if to an experienced physician he looks and acts damned sick, he’s toxic.

Definition: “Toxic” Infant
* Lethargy
o poor or absent eye contact
o failure to recognize parents
o poor interaction with persons / environment
* Signs of poor perfusion
* Marked hypoventilation / apnea
* Hyperventilation
* Cyanosis

1993 Clinical Practice Guideline
* Review of literature
* Evidence based
* Outcomes driven
* Consensus opinion

Important Clinical Questions

* Which young infants are at low risk for serious bacterial infection?
* Which older infants deserve empiric antibiotic therapy?

Clinical Practice Guideline
Low Risk Criteria: Clinical Appearance

* Nontoxic appearance
* Previously healthy
* No focal bacterial infection on exam
Otitis media is not considered a focal infection

Clinical Practice Guideline Low Risk Criteria: Laboratory Tests
Guideline: 0 - 28 days
Guideline: 29 - 90 days
Follow-up
Modified Guideline: 3 - 36 months
Modifications to the Guideline
Modified Guideline: 3 - 36 months Options

* Urinalysis or Urine leukocyte esterase + nitrite
* Send urine culture:
o All males <6 months + uncircumcised males <1yr
o Females <1 yr
* Send urine culture if positive urine screening
o Circumcised males 6-12 months
o Females 1-2 yrs

Modified Guideline: 3 - 36 months Options
Follow-up
Guidelines and Practice
Data Support Departures from the Guideline
Adherence Rates with Guideline
Otitis Media Influences Management
Data from Pediatric Practice:the PROS Fever Study
PROS Fever Study: Laboratory Tests
PROS Fever Study: Management
Adherence Rates to Guideline
New Considerations

* Automated Blood Culture Systems
* Band counts - out?
* Importance of UTI
* Fever with Source
o Recognizable Viral Syndromes
Automated Blood Culture Systems
Band Count: Not Discriminatory
Importance of UTI
Recognizable Viral Syndromes
Why Do Clinicians not Adhere to the Clinical Practice Guideline?
Many clinicians disagree with:

* Definition of fever
* Age thresholds
* Applying study data to their practices in which there is better compliance and follow-up
Caveat
Management of Fever Without Source

* Guideline is a place to start
* Need to know IZ status
* UTI: most frequent infection
* Recognize the “toxic” infant
* If you treat, obtain cultures
* Document carefully
* Arrange follow-up
Charles Prober’s Golden Rules

* The younger the infant, the greater the uncertainty
* A toxic appearance demands immediate action
* A non-toxic appearance fuels controversy
* Careful follow-up must be assured
* Recommendations continue to evolve
* No rules are golden

Management of the Febrile Infant.ppt

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02 May 2009

Common Genetics Problems in Pediatrics



Common Genetics Problems in Pediatrics
Presentation lecture by:Shannon Browning MD

Klinefelter Syndrome

* Occurs in approximately 1 in 1000 births
* 80% have the classic 47,xxy karyotype, with 10 % having 46,XY/47XXY mosaicism and another 10% having multiple x or Y chromosomes
* Results from nondisjunction and is often associated with advanced maternal age
* Rarely diagnosed before the onset of puberty
* Most children with KS present initially with behavior problems , abnormal puberty or infertility issues
* Typically taller than average and increased carrying angle and a relatively wide pelvis
* 30% will develop gynecomastia during in puberty
* 50% of children have speech delays and 25% have motor
* All affected males are infertile, although there are rare cases of fertility

Sickle Cell Disease

* Results from a single genetic mutation in which a nucleotide in the coding sequence of a beta-globin gene is mutated from adenosine to thymidine
* This mutation occurs in the middle of the triplet that codes for normally glutamic acid as the 6th AA of the beta-chain of hemoglobin. The single base change substitutes Valine for glutamic acid.
* The resulting mutated hemoglobin has decreased solubility and abnormal polymerization properties
* If only 1 beta-globin gene is mutated= heterozygous state which is referred to as sickle cell trait
* If both genes are mutated resulting in homozygous state and called sickle cell anemia or sickle cell disease.
* Prenatal testing for sickle cell has improved significantly over the past 2 decades.
* The newborn with sickle cell disease is not anemic initially because of the protective affects of elevated fetal hemoglobin. Hemolytic anemia develops over the 1st 2-4mo.
* Chorionic villus sampling can be performed as early as 9 wks gestation making it an earlier alternative to amniocentesis.

Teratogens

* Accutane embryopathy is associated with embryonic exposure to isotretinoin beyond the 15th day after conception and through the end of 1st trimester
* Isotretinoin is a vitamin A derivative that is administered orally and used for the treatment of cystic acne
* It impedes the normal neural crest migration in the developing embryo.
* This disruption in the migration of the neural crest cells leads to defects in the central nervous system, severe ear anomalies, conotruncal heart defects and thymic abnormalities
* Alcohol can cause all the above mentioned abnormalities with the exception of thymus abnormalities
* Warfarin embryopathy is a recognizable pattern of malformation. Warfarin acts as an anticoagulant because it is a vitamin K antagonist. It prevents the carboxylation of gamma-carboxyglutamic acid which is a component of osteocalcin and other vit K dependent bone proteins.
* The critical period of exposure is between 6-9 weeks.

Down’s Syndrome

* 95% of all those affected with DS have trisomy of the chromosome 21
* 90-95% of these cases are due to maternal meiotic error with 75% occurring in meiosis I. 3-5% are due to paternal meiotic errors and the remainder are due to mitotic nondisjunction
* Recurrence risk estimates are based on empiric data
* The overall recurrence risk for having a child with any trisomy is approx 1% added to the mother’s age-related risk. As a woman ages the age related risk exceeds the recurrence risk

Turner Syndrome

* The two most common features in girls with TS is short stature and gonadal dysgenesis. It should be suspected in any girl of short stature with unknown cause.
* Estimated that 1 in 2500 girls are affected
* Linear growth velocity varies: from birth to 3 yrs it is normal, from 3-12 yrs velocity decreases, and after age 12 it decelerates even further.
* Most affected girls have a 45,X karyotype
* Diagnosis is based on chromosomal analysis

Neurofibromatosis Type I

* Occurs in 1 in 3000 to 1 in 4000 lives births and is unrelated to gender, ethnicity or geographic location
* Autosomal dominant condition
* 50% of cases are spontaneous mutations in the gene that codes for neurofibromin on chromosome 17.
* Males and females are equally affected
* The recurrence risk to offspring of an affected individual is 50%
* This gene abnormality shows full penetrance
* Café au lait macules (CALMs) are uniformly pigmented flat spots that range in size from a few mm to as much as 30cm in adults. CALMs increase in size in proportion to growth.
* One or two CALMs are common more than 6 raises the concern about NF-1
* Of children who present with 6 or more CALMs 89% meet the diagnostic criteria for NF-1 within 3 years.

Angelman Syndrome

* Affected children are normal at birth
* They experience global developmental delay, but speech is affected most. Most children will never speak
* They laugh frequently and have an ataxic gait and often hold their elbows away from their bodies.

Common Genetics Problems in Pediatrics.ppt

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01 May 2009

Pediatric Examination



Pediatric Examination
Presentation by:Lawrence D. Beem, D.C., FASA,FICPA, IME
Professor, Cleveland Chiropractic College
Kansas City

Physical Examination

* Perform physical examination from head to toe on a pediatric patient.
* You may need to alter the order of the examination for patient compliance for uncooperative or hyperactive patients.
* Do not force a child to do something that may be frightening or uncomfortable to them.
* When examining an infant, toddler, or school-aged child it is suggested to have a parent or guardian in the room with you.
* Examination of an infant or toddler may be preformed on the lap of the patient.
* With an adolescent, it may be more appropriate not to have the parent in the room with you, this may allow the patient to feel that they can be more candid.
* To avoid possible legal issues, a male doctor may want a female staff member to be in the examination room.
* The doctor should verify confidentiality laws in their particular state.

Vital Signs
* Vital signs in pediatrics include temperature, heart rate, blood pressure, respiratory rate, weight, length, and head circumference.
Weight
Height
Head Circumference
Blood Pressure

* Blood pressure must be measured with a cuff wide enough to cover at least 1/2 to 2/3 of the extremity and its bladder should encircle the entire extremity.
* A narrow cuff elevates the pressure, while a wide cuff lowers it.
* Systolic hypertension is seen with anxiety, renal disease, coarctation of the aorta, essential hypertension, and certain endocrine abnormalities.
* Diastolic hypertension occurs with endocrine abnormalities and coarctation of the aorta.
* Hypotension occurs in hypovolemia and other forms of shock.
Blood Pressure
Pulse
Heart Rate
Respiration
Respiratory Rate
Temperature
Methods of Taking Temperature
General Inspection
Head
Eyes
Nose
Ears
Throat
Mumps
Thrush
Thrush on the Tongue
Oral Thrush
Acute Tonsillitis
Diphtheria Bull Neck
Diphtheria Psudomembrane
Stomatitis
Stomatitis of the Tongue
Mastoiditis
Mumps
Kippel Feil
Congenital Muscular Torticollis
Thorax and Heart
Pectus Excavatum
Pigeon Breast
Gynecomastia
Upper Extremity

* Examination of the upper extremities should include inspection for normal anatomy and limb position, palpation for structural integrity, and joint range of motion.
* The extremities should be examined for clubbing, cyanosis, and edema.
* Acrocyanosis is a common finding in neonates, characterized by cyanotic discoloration, coldness, and sweating of the extremities, especially the hands.
* Any deformities or extra digits should be noted.
* Range of motion, swelling, erythema, and warmth should be noted of any joint.
* Check for signs of contusions, abrasions, and edema which are common signs of trauma.

Polydactyly
Upper Extremity

* Check for muscle tone and strength of the upper extremity.
* Evaluate all range of motion of each joint.
Abdomen
Rectum
Genitalia
Lower Extremity
Orthopedic Testing
Neurological Testing
Emotional Attitudes

Pediatric Examination.ppt

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Otitis Media



Otitis Media
Presentation by:Lawrence D. Beem, D.C., FICPA
Cleveland Chiropractic College
Assistant Professor: Pediatrics

Otitis Media
* Otitis Media is the second most common reason after a well baby visit to the pediatrician’s office.
* It is estimated that approximately 30 million office visits per year involve evaluation and treatment of Otitis Media and billions of dollars are spent annually for Otitis Media care.
* More than a quarter of all prescriptions written each year for oral antibiotics are for the treatment of middle ear infections.
* Many surgical procedures such as myringotomy with tympanostomy tube placement or tonsillectomy and adenoidectomy are preformed on children for treatment of recurrent diseases.

Otitis Media Classifications

* OM can be classified into 4 categories:
o Acute Otitis Media is the sudden onset of inflammation of the middle ear, which is often accompanied by fever and ear pain.
o Persistent Middle Ear Effusion also called subacute OM, is the presence of middle ear fluid after antimicrobial treatment. Resolution of acute inflammatory signs has occurred, with persistence of a more serous, less purulent effusion.
o Recurrent Otitis Media is frequent episodes of acute OM with complete clearing between each case. This condition affects approximately 20% of the children who are (Otitis Prone), such children are usually infants who have their 1st. Infection at less than a year of age.
o Chronic Otitis Media with effusion, (serous OM, secretory OM,) is a chronic condition characterized by persistence of fluid in the middle ear for 3 months or longer. The TM is retracted or concave with impaired mobility and shows no signs of acute inflammation and affected children may be asymptomatic. These individuals are at greatest risk for developing hearing deficits and speech delay.

Otitis Media Epidemiology

* Peak incidence is 6 to 36 months of age.
* OM is relative uncommon in older children and adolescents.
* The condition is more common in boys and the prevalence is greater in Alaskan natives, Native Americans, and Caucasians.
* Epidemiologic Risk Factors:
o Familial predisposition
o low socioeconomic status
o altered host defences
o environmental factors
o presence of underlying condition
* The highest rate of Otitis Media occurs during the winter months and early spring, coinciding with peaks in the incidence of URI’s.
* Breast feeding which provides infants with immunologic protection against URI’s, other viral and bacterial infections and allergies, is thought to have a preventive effect against OM.
* I has been hypothesized that facial muscles develop differently in breast-fed infants, thus influencing eustachian tube function and preventing aspiration of fluid into the middle ear.Positioning during breastfeeding also has been hypothesized to have some protective effect.

Diagnosis (Otitis Media)

* Ear pain or otorrhea
* Possibly fever
* Abnormal tympanic membrane
* Erythema or injection of tympanic
* Pus behind the tympanic membrane
* Bulging appearance
* Distorted or absent light reflex
* Decreased mobility via pneumatic otoscopy

Pathophysiology (OM)

* The most important factor in the pathogenesis OM is abnormal function of the eustachian tube.
* Reflux, aspiration or insufflation of nasopharyngeal bacteria into the middle ear via the dysfunctional eustachian tube may lead to infection.
* The causative microorganisms for OM are Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis.
* Group A streptoccus, Staphylococcus aureus, and anaerobic bacteria are other less common causes.
* Eustachian tube dysfunction occurs primarily for 2 reasons: abnormal patency and obstruction.
* Obstruction is either functional or mechanical or both.
o Functional, secondary to collapse of the eustachian tube, obstruction or collapse of the eustachian tube occurs commonly in infants and young children because the tube is less cartilaginous and therefore less stiff than in adults.
o Intrinsic mechanical obstruction of the eustachian tube occurs as the result of inflammation secondary to a URI or allergy.
o Extrinsic causes of mechanical obstruction include masses such as tumors or adrenoidal enlargement.
* Differential Diagnosis:
o The most common cause of otalgia, or ear pain, is acute OM.
o Other causes include mastoiditis, which is almost always accompanied by OM; otitis externa; and referred pain from the oropharynx, teeth, adenoids, or posterior auricular lymph nodes.
o A foreign body in the canal can produce similar symptoms.

Ant in Ear
Ear tick
Bug in Ear
Leach in Ear

Physical Examination
Indications For Tympanocentesis or Myringotomy
Management

Otitis Media.ppt

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23 April 2009

Pediatric Video Lecture: Technology in Asthma Management



Pediatric video Lecture: Technology in Asthma Management

Winston S. Price, M.D., FAAP, a practicing pediatrician in Brooklyn, New York, discusses his studies on the uses of technology treating asthma. Dr. Price is currently the President of the National Medical Association. Series: LeNoir - NMA Pediatric Lecture Series

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