1. HEMATOLOGIC CHANGES THAT OCCUR DURING PREGNANCY INCLUDE AN INCREASE IN:
1.1. PLASMA VOLUME
1.1.1. PREGNANCY LEADS TO A 50% INCREASE IN PLASMA VOLUME, BUT ONLY A 30% INCREASE IN RBC VOLUME, WHICH RESULTS IN DILUTIONAL ANEMIA
1.1.2. CHOLESTEROL SYNTHESIS DIORDERS
1.2. ELEVATED PLASMA AND URINE LEVELS OF LEUCINE, ISOLEUCINE, VALINE, AND ALLOISOLEUCINE, WITH DECREASED PLASMA ALANINE
1.3. RBC VOLUME
2. INBORN ERRORS OF METABOLISM
2.1. HOMOCYSTINEMIA/URIA
2.2. PURINE METABOLISM DISORDERS
2.3. PHENYLKETONURIA
2.4. MAPLE SYRUP URINE DISEASE
2.4.1. INHERITED DISORDER OF BRANCHED-CHAIN AMINO ACID METABOLISM IN WHICH ELEVATED LEVELS OF LEUCINE, ISOLEUCINE, VALINE, AND CORRESPONDING OXOACIDS ACCUMULATE IN THE BODY FLUIDS
2.4.2. DEFINITION
2.4.2.1. DEFICIENCY OF BRANCHED CHAIN KETOACID DEHYDROGENASE
2.4.3. SIGNS/SYMPTOMS
2.4.3.1. POOR FEEDING, VOMITING IN FIRST WEEK OF LIFE, PROCEEDING TO LETHARGY AND COMA
2.4.3.2. ALTERNATING HYPERTONICITY AND FLACCIDITY, CONVULSIONS, HYPOGLYCEMIA
2.4.3.3. NOTE THAT IF MOM HAS BEEN TAKING FENUGREEK TO BOOST MILK PRODUCTION, THIS CAN LEAD TO A SIMILAR SWEET SMELL IN BOTH MOM AND BABY
2.4.3.3.1. ODOR OF MAPLE SYRUP IN URINE, SWEAT, CERUMEN
2.4.4. DIAGNOSIS/SCREENING
2.4.4.1. URINE PRECIPITANT TEST AND NEUROIMAGING IN THE ACUTE STATE CAN SHOW CEREBRAL EDEMA
2.4.4.2. IT IS NORMALLY INCLUDED IN THE NEWBORN SCREENING FOR METABOLIC DISORDERS
2.4.5. TREATMENT
2.4.5.1. PATIENT SHOULD BE ON A LOW BRANCHED-CHAIN AMINO ACID DIET
2.4.5.2. FREQUENT SERUM LEVEL MONITORING
2.4.5.3. IN THE ACUTE STAGE INTRAVENOUS ADMINISTRATION OF AMINO ACIDS OTHER THAN BRANCHED CHAIN AMINO ACIDS
2.4.5.4. EMERGENT HEMODIALYSIS OR PERITONEAL DIALYSIS IF PATIENT IS ACIDOTIC.
2.4.5.5. LIVER TRANSPLANTATION CAN DEFINITIVELY TREAT MAPLE SYRUP URINE DISEASE
2.5. HARTNUP DISEASE
2.6. TYROSINEMIA
2.7. UREA CYCLE DEFICIENCIES
2.8. FATTY ACID OXIDATION DISORDERS
2.9. ORGANIC ACID DISORDERS
2.10. LIPODESES
2.11. MUCOPOLYSACCHARIDOSES
3. MITOCHONDRIAL DISORDERS
4. CARBOHYDRATE METABOLISM DISORDERS
5. INTRODUCTION OF SOLID FOODS
6. CHARACTERISTICALLY, CELIAC DISEASE MANIFESTS DURING INFANCY AND BEFORE SCHOOL AGE
6.1. IN THE CLASSIC FORM OF CHILDHOOD CELIAC DISEASE, SYMPTOMS AND SIGNS OF MALABSORPTION BECOME OBVIOUS WITHIN SOME MONTHS OF STARTING A GLUTEN-CONTAINING DIET
6.1.1. CHILDREN MAY PRESENT WITH FAILURE TO THRIVE, AND PROXIMAL MUSCLE WASTING MAY BE SEEN
6.1.1.1. GASTROINTESTINAL SYMPTOMS OF CELIAC SPRUE INCLUDE:
6.1.1.1.1. FOUL-SMELLING DIARRHEA
6.1.1.1.2. ABDOMINAL PAIN
6.1.1.1.3. WEIGHT LOSS
6.1.1.1.4. BLOATING
6.1.1.1.5. FATIGUE
6.1.1.1.6. STEATORRHEA
6.1.1.2. EXTRAINTESTINAL MANIFESTATIONS OF CELIAC SPRUE INCLUDE:
6.1.1.2.1. ANEMIA
6.1.1.2.2. NEUROLOGIC SYMPTOMS (MOTOR WEAKNESS, PARASTHESIAS)
6.1.1.2.3. DERMATITIS HERPETIFORMIS
6.1.1.2.4. HORMONAL DISORDERS (AMENORRHEA/INFERTILITY IN WOMEN, IMPOTENCE/INFERTILITY IN MEN)
7. STEP 1
7.1. ORGAN SYSTEMS
7.1.1. IN UP TO ONE QUARTER OF CHILDREN DIAGNOSED, RICKETS MAY BE A PRESENTING SYMPTOM
7.1.2. CARDIOLOGY
7.1.2.1. LARGE VESSEL VASCULITIS
7.1.2.1.1. GIANT CELL (TEMPORAL) ARTERITIS
7.1.2.1.2. TAKAYASU ARTERITIS
7.1.2.2. PATHOLOGY
7.1.2.3. PHARMACOLOGY
7.1.2.3.1. ANTIHYPERTENSION DRUGS: ANGIOTENSIN AGENTS
7.1.3. ENDOCRINOLOGY
7.1.3.1. HYPOTHALAMIC-PITUITARY AXIS
7.1.3.1.1. ANTERIOR PITUITARY
7.1.3.2. ENDOCRINE PANCREAS
7.1.3.2.1. DIABETES MELLITUS
7.1.3.2.2. TYPE I DIABETES MELLITUS
7.1.3.2.3. TYPE II DIABETES MELLITUS
7.1.3.3. ENDOCRINE PHARMACOLOGY
7.1.3.3.1. DIABETES MELLITUS PHARMACOLOGY
7.1.3.4. OTHER PATHOLOGY
7.1.3.4.1. CARCINOID SYNDROME
7.1.4. GASTROENTEROLOGY
7.1.4.1. PATHOLOGY
7.1.4.1.1. CARCINOID
7.1.5. HEMATOLOGY/ONCOLOGY
7.1.5.1. HEMATOLOGICAL DISORDERS
7.1.5.1.1. OVERVIEW OF ANEMIA
7.1.5.1.2. THROMBOTIC MICROANGIOPATHIES
7.1.5.2. HEMATOLOGIC MALIGNANCIES
7.1.5.2.1. LYMPHOMA: NON-HODGKIN
7.1.5.3. HEMOSTASIS
7.1.5.3.1. THROMBOCYTOPENIA
7.1.5.3.2. ANTIPHOSPHOLIPID SYNDROME
7.1.6. ORTHOPEDICS & RHEUMATOLOGY
7.1.7. PULMONOLOGY
7.1.7.1. PATHOLOGY
7.1.7.1.1. NASOPHARYNGEAL DISORDERS
7.1.7.2. PHYSIOLOGY
7.1.7.2.1. OXYGEN-HEMOGLOBIN DISSOCIATION CURVE
7.1.8. REPRODUCTIVE
7.1.8.1. ANATOMY
7.1.8.1.1. PROSTATE
7.1.8.1.2. LIGAMENTS OF THE UTERUS
7.1.8.1.3. GONADAL DRAINAGE
7.1.8.1.4. UTERINE TUBES
7.1.8.1.5. VAGINA
7.1.8.1.6. TESTES
7.1.8.1.7. EXTERNAL GENITALIA - FEMALE
7.1.8.1.8. UTERUS
7.1.8.1.9. EXTERNAL GENITALIA - MALE
7.1.8.1.10. OVARIES
7.1.8.1.11. CERVIX
8. FAMILIAL HYPERLIPIDEMIAS
9. BLEEDING DIATHESIS (INCREASED TENDENCY TO BLEED, SECONDARY TO MALABSORPTION OF FAT-SOLUBLE VITAMIN K)
10. STANDARD ERROR OF THE MEAN (SEM) = Σ/√N
11. DISCREPANCY IN BLOOD PRESSURE BETWEEN THE ARMS (>10 MM HG)
12. CAN BE DEFINED BY MEAN (Μ) AND STANDARD DEVIATION (Σ)
13. BASIC SCIENCES
13.1. BIOSTATISTICS
13.1.1. STATISTICAL SIGNIFICANCE
13.1.1.1. BASIC TERMS
13.1.1.2. CONFIDENCE INTERVAL
13.1.1.2.1. IT MEASURES HOW RELIABLE AN ESTIMATE IS
13.1.1.2.2. USED TO CALCULATE THE PROBABILITY THAT THE DIFFERENT MEANS BETWEEN 2 GROUPS IS REAL
13.1.1.3. T-TEST
13.1.1.3.1. IT REQUIRES NORMALLY DISTRIBUTED, CONTINUOUS MEASUREMENTS
13.1.1.4. CHI-SQUARED TEST
13.1.1.4.1. SIMILAR TO T-TEST, EXCEPT IT IS USED FOR CATEGORICAL MEASURES
13.1.1.4.2. ANOVA (ANALYSIS OF VARIANCE)
13.1.1.4.3. USED TO CALCULATE WHETHER OR NOT A DIFFERENCE BETWEEN TWO PERCENTAGES/PROPORTIONS (NOT MEANS) IS REAL
13.1.2. STATISTICAL DISTRIBUTIONS
13.1.2.1. CONTINUOUS PROBABILITY DISTRIBUTION, WHICH IS A FUNCTION THAT PREDICTS THE PROBABILITY THAT AN OBSERVATION WILL FALL ON A GIVEN VALUE
13.1.2.2. THERE ARE VARIOUS PATTERNS OF DISTRIBUTION
13.1.2.2.1. NORMAL DISTRIBUTION
13.1.2.2.2. SKEWED DISTRIBUTION
13.1.2.3. STATISTICAL CHARACTERISTICS
13.1.2.3.1. MEAN
13.1.2.3.2. MODE
13.1.2.3.3. MEDIAN
13.1.3. HYPOTHESES AND ERROR TYPES
13.1.4. INCIDENCE AND PREVALENCE
13.1.5. SPECIFICITY, SENSITIVITY, PPV, NPV
13.1.6. ABSOLUTE RISK REDUCTION
13.1.7. NUMBER NEEDED TO TREAT OR HARM
13.1.8. PRECISION AND ACCURACY
13.1.9. VALIDITY
13.1.10. INTERNAL VALIDITY
13.1.11. EVALUATING RISK
13.1.12. ATTRIBUTABLE RISK
13.2. BIOCHEMISTRY
13.2.1. GENETICS
13.2.1.1. CYSTIC FIBROSIS
13.2.1.1.1. AN AUTOSOMAL RECESSIVE DEFECT IN A TRANSMEMBRANE CHLORIDE CHANNEL (USUALLY A DELETION OF Phe508) RESULTS IN THICKENED MUCUS SECRETIONS, SEVERELY AFFECTING FUNCTION OF THE PANCREATIC, PULMONARY, AND REPRODUCTIVE SYSTEMS
13.2.1.1.2. MOST COMMON LETHAL GENETIC DISEASE IN WHITES
13.2.1.1.3. GENE: CFTR (A CHLORIDE CHANNEL) ON CHROMOSOME 7
13.2.1.1.4. DIAGNOSIS
13.2.1.1.5. DEFECTIVE GENE RESULTS IN:
13.3. IMMUNOLOGY
13.3.1. IMMUNE DEFICIENCIES
13.3.1.1. DIGEORGE SYNDROME (THYMIC HYPOPLASIA)
13.3.1.1.1. DIGEORGE SYNDROME RESULTS FROM FAILURE OF DEVELOPMENT OF THE 3RD AND 4TH PHARYNGEAL POUCHES, WHICH GIVE RISE TO THE THYMUS AND PARATHYROID GLANDS
13.3.1.1.2. CATCH-22 IS A MNEMONIC USED TO DESCRIBE THE FEATURES OF DIGEORGE SYNDROME:
13.3.1.1.3. THE MOST COMMON CAUSE OF DEATH IN DIGEORGE SYNDROME IS CONGENITAL HEART DISEASE
13.3.2. IMMUNOSUPPRESSANTS
13.3.2.1. TRANSPLANT REJECTION
13.3.2.1.1. HYPERACUTE REJECTION OCCURS WHEN THERE IS THE PRESENCE OF PREFORMED ANTIBODIES AGAINST THE DONOR’S HLA OR ABO ANTIGENS AT TIME OF TRANSPLANTATION, LEADING TO REJECTION OF THE TRANSPLANT WITHIN MINUTES
13.3.2.1.2. ACUTE REJECTION IS A COMBINATION OF A TYPE IV AND TYPE II HYPERSENSITIVITY REACTION
13.3.2.1.3. CHRONIC REJECTION IS CHARACTERIZED BY EPISODIC BOUTS OF REJECTION OCCURRING MONTHS TO YEARS AFTER TRANSPLANTATION
13.3.2.1.4. GRAFT VS. HOST DISEASE IS A COMMON COMPLICATION OF ALLOGENEIC BONE MARROW TRANSPLANTATION IN WHICH FUNCTIONAL IMMUNE CELLS IN THE DONOR MARROW RECOGNIZE THE RECIPIENT AS FOREIGN AND MOUNT AN IMMUNOLOGIC ATTACK AGAINST THE RECIPIENT
13.4. PATHOLOGY
13.4.1. RESPONSES TO INJURY
13.4.1.1. ACUTE INFLAMMATION IS THE INNATE IMMUNITY’S IMMEDIATE RESPONSE TO ANY INSULT CHARACTERIZED BY MOST PROMINENTLY BY NEUTROPHILS, AS WELL AS EOSINOPHILS AND ANTIBODIES LASTING FOR MINUTES TO DAYS
13.4.1.1.1. EOSINOPHILS ARE THE PREDOMINANT INFLAMMATORY CELLS IN ALLERGIC REACTIONS AND PARASITIC INFESTATIONS
13.4.1.2. THE CARDINAL SIGNS OF INFLAMMATION ARE:
13.4.1.2.1. RUBOR (REDNESS)
13.4.1.2.2. DOLOR (PAIN)
13.4.1.2.3. CALOR (HEAT)
13.4.1.2.4. TUMOR (SWELLING)
13.4.1.2.5. FUNCTION LAESA (LOSS OF FUNCTION)
13.4.1.3. PROSTAGLANDINS (PG) I2, D2, AND E2 CAUSE VASODILATION AND INCREASED VASCULAR PERMEABILITY
13.4.1.4. FLUID EXUDATION: VASCULAR PERMEABILITY INCREASES, FACILITATING EXTRAVASATION OF IMMUNE CELLS AND NUTRIENTS AND THE CARRYING AWAY OF TOXIC METABOLITES OF THE INFLAMMATORY RESPONSE, RESULTING IN NET FLUID EXUDATION
13.4.1.4.1. BEGINS WITH A BRIEF PERIOD OF ARTERIOLAR VASOCONSTRICTION FOLLOWED SHORTLY BY DILATATION OF ARTERIOLES, CAPILLARIES, AND POSTCAPILLARY VENULES
13.4.1.4.2. THE RESULTING INCREASE IN BLOOD FLOW TO THE AFFECTED AREA CLINICALLY MANIFESTS AS REDNESS AND INCREASED WARMTH
13.4.1.4.3. FLUID EXUDATION MAY ALSO BE CAUSED BY ENDOTHELIAL INJURY OR CONTRACTION OF ENDOTHELIAL CELLS IN POSTCAPILLARY VENULES, WITH WIDENING OF INTERENDOTHELIAL GAPS
13.4.1.4.4. INCREASED CAPILLARY PERMEABILITY RESULTS IN LEAKAGE OF PROTEINACEOUS FLUID CAUSING EDEMA
13.4.1.5. NEUTROPHILS ENTER TISSUE VIA THE LEUKOCYTE ACTIVATION PATHWAY AND PARTICIPATE IN PHAGOCYTOSIS, DEGRANULATION, AND INFLAMMATORY MEDIATOR RELEASE
13.4.1.6. FOLLOWING NEUTROPHILS (1-2 DAYS LATER), MACROPHAGES MANAGE THE NEXT STEP OF THE INFLAMMATORY PROCESS, WHICH CAN BE ANY OF THE FOLLOWING:
13.4.1.6.1. RESOLUTION AND HEALING
13.4.1.6.2. CONTINUED ACUTE INFLAMMATION
13.4.1.6.3. ABSCESS FORMATION
13.4.1.6.4. CHRONIC INFLAMMATION
13.4.1.7. CONTINUED ACUTE INFLAMMATION RESULTS WHEN MACROPHAGES RELEASE INTERLEUKIN (IL)-8 LEADING TO RECRUITMENT OF MORE NEUTROPHILS AND MORE PUS FORMATION
13.4.1.8. RESOLUTION AND HEALING IS ACHIEVED WHEN MACROPHAGES PRODUCE ANTI-INFLAMMATORY CYTOKINES SUCH AS TGFΒ AND IL-10
13.4.1.9. ABSCESS FORMATION IS CHARACTERIZED BY FIBRIN-LINED CAVITY FILLED WITH PUS (NEUTROPHILS, MONOCYTE/MACROPHAGES, AND LIQUIFIED CELLULAR DEBRIS)
13.4.1.10. MACROPHAGES MAY PRESENT ANTIGEN TO ACTIVATE LYMPHOCYTES (CD4+ HELPER T CELLS) LEADING TO CHRONIC INFLAMMATION
13.4.1.11. ACUTE-PHASE REACTANTS ARE FACTORS WHOSE SERUM CONCENTRATION SIGNIFICANTLY CHANGES IN RESPONSE TO INFLAMMATION
13.4.1.11.1. IN RESPONSE TO INJURY, MACROPHAGES AND OTHER INFLAMMATORY CELLS SECRETE INTERLEUKINS IL-1, IL-6 AND TNF-α AND IFN-γ AND THE LIVER RESPONDS BY SIGNIFICANTLY INCREASING OR DECREASING THE PRODUCTION OF ACUTE-PHASE REACTANTS
13.4.1.12. THE FOLLOWING ACUTE PHASE REACTANTS ARE ELEVATED IN THE SERUM IN RESPONSE TO INFLAMMATION:
13.4.1.12.1. C-REACTIVE PROTEIN
13.4.1.12.2. FERRITIN
13.4.1.12.3. FIBRINOGEN
13.4.1.12.4. HEPCIDIN
13.4.1.12.5. SERUM AMYLOID A
13.4.1.13. THE FOLLOWING ACUTE-PHASE REACTANTS ARE REDUCED IN THE SERUM IN RESPONSE TO INFLAMMATION:
13.4.1.13.1. ALBUMIN
13.4.1.13.2. TRANSFERRIN
14. → RECURRENT PSEUDOMONAS AND STAPH PNEUMONIAS, CHRONIC BRONCHITIS, BRONCHIECTASIS
15. CONJUNCTIVITIS AND CORNEAL ULCERATIONS
16. STEP 2 CK
16.1. INTERNAL MEDICINE
16.1.1. DERMATOLOGY
16.1.1.1. STEVEN-JOHNSON SYNDROME
16.1.1.1.1. STEVENS-JOHNSON SYNDROME (SJS) IS A SEVERE FORM OF ERYTHEMA MULTIFORME INVOLVING MUCOUS MEMBRANES AND SEVERE PLAQUE FORMATION. IT IS AN IMMUNE-MEDIATED HYPERSENSITIVITY REACTION THAT LEADS TO NECROSIS AND SLOUGHING OF THE EPIDERMIS
16.1.1.1.2. STEVENS-JOHNSON SYNDROME REPRESENTS THE SAME PROCESS AS TOXIC EPIDERMAL NECROLYSIS (TEN)
16.1.1.1.3. THERE ARE 4 ETIOLOGIC CATEGORIES FOR SJS:
16.1.1.1.4. SJS PRESENTS WITH A 2-3 DAY PRODROMAL PERIOD OF FEVER AND FLU-LIKE SYMPTOMS PRIOR TO THE DEVELOPMENT OF MUCOCUTANEOUS LESIONS
16.1.1.1.5. IN A PATIENT’S FIRST DRUG-EXPOSURE RELATED CASE OF SJS, THE DRUG EXPOSURE TYPICALLY OCCURS ONE TO THREE WEEKS BEFORE THE DEVELOPMENT OF SYMPTOMS
16.1.1.1.6. THE TIME COURSE FROM PRODROME UNTIL HOSPITAL DISCHARGE RANGES BETWEEN TWO TO FOUR WEEKS
16.1.1.1.7. BLISTERING AND SWELLING OF THE ORAL CAVITY IS ALSO SEEN IN PATIENTS WITH SJS
16.1.1.1.8. THERE ARE NO SPECIFIC DIAGNOSTIC STUDIES FOR SJS, BUT A HISTORY SUGGESTIVE OF DRUG EXPOSURE/ILLNESS, POSITIVE CLINICAL SYMPTOMS, AND A SKIN BIOPSY CAN HELP CONFIRM CLINICAL SUSPICION
16.1.1.1.9. ON PHYSICAL EXAMINATION A PATIENT WITH SJS WILL TYPICALLY HAVE AN ERYTHEMATOUS RASH WHICH MAY HAVE THE APPEARANCE OF A TARGET
16.1.1.1.10. OTHER SIGNS THAT RAISE CONCERN OF SJS INCLUDE:
16.1.1.1.11. LESIONS TYPICALLY START ON THE FACE AND THORAX BEFORE SPREADING, AND SPARE THE SCALP
16.1.1.1.12. AFTER A FEW DAYS, THE SKIN RASHES PROGRESSES TO VESICLES AND BULLAE, AND THE SKIN BEGINS TO SLOUGH
16.1.1.1.13. MUCOUS MEMBRANES ARE ALMOST ALWAYS INVOLVED IN SJS, INCLUDING THE ORAL MUCOSA (INCLUDING TONGUE), CONJUNCTIVA, URETHRA, AND PULMONARY MUCOSA
16.1.1.1.14. SKIN BIOPSIES ARE FAIRLY SPECIFIC AND TYPICALLY SHOW LYMPHOCYTES WITHIN PERIVASCULAR STRUCTURES AND FULL THICKNESS EPIDERMAL DETACHMENT WITH A NORMAL IMMUNOFLUORESCENCE
16.1.1.1.15. THE MORTALITY RATE OF SJS IS ABOUT 10%
16.1.1.1.16. BECAUSE THE MOST COMMON CAUSE OF SJS IS A REACTION TO MEDICATION, THE MOST IMPORTANT FIRST STEP IN TREATMENT IS TO STOP THE OFFENDING MEDICATION
16.1.2. GASTROENTEROLOGY
16.1.2.1. CELIAC SPRUE
16.1.2.1.1. CELIAC SPRUE (I.E. GLUTEN INTOLERANCE) IS AN IMMUNE-MEDIATED DESTRUCTION OF THE MUCOSA OF THE JEJUNUM
16.1.2.1.2. PATHOGENESIS INVOLVES THE INGESTION AND BIOCHEMICAL BREAKDOWN OF GLUTEN (FOUND IN WHEAT, BARLEY, RYE), AND THE SUBSEQUENT AUTOIMMUNE INFLAMMATORY REACTION TO GLIADIN, AN ALCOHOL-SOLUBLE FRACTION OF GLUTEN
16.1.2.1.3. CELIAC SPRUE HAS A STRONG HEREDITARY COMPONENT--HLA HAPLOTYPES DQ2 AND DQ8 ARE STRONGLY LINKED TO DISEASE
16.1.2.1.4. OTHER THAN DISEASE IN A FIRST-DEGREE RELATIVE, RISK FACTORS FOR CELIAC SPRUE INCLUDE:
16.1.2.1.5. FOR SUSPECTED CELIAC DISEASE, THE BEST INITIAL TEST IS A SERUM LEVEL OF IMMUNOGLOBULIN A ANTI-TISSUE TRANSGLUTAMINASE ANTIBODY (IGA TTG)
16.1.2.1.6. OTHER USEFUL LAB TESTS INCLUDE:
16.1.2.1.7. THE GOLD STANDARD IN DIAGNOSING CELIAC SPRUE IS A DUODENAL BIOPSY, WHICH SHOWS:
16.1.2.1.8. RADIOGRAPHIC STUDIES MAY BE USEFUL IN UNTREATED CELIAC SPRUE
16.1.2.1.9. THE PRIMARY TREATMENT OF CELIAC SPRUE IS THE AVOIDANCE OF GLUTEN-CONTAINING PRODUCTS, SUCH AS WHEAT, BARLEY AND RYE
16.1.2.1.10. CELIAC SPRUE MAY RESULT IN THE FOLLOWING LONG TERM COMPLICATIONS:
16.1.2.1.11. TROPICAL SPRUE
16.1.2.2. HEPATIC ENCEPHALOPATHY
16.1.2.2.1. IT OCCURS WHEN AMMONIA CLEARANCE IS COMPROMISED (DUE TO CHRONIC LIVER DYSFUNCTION) AND CONSEQUENTLY BUILDS UP AND CROSSES INTO THE CNS
16.1.2.2.2. PATIENTS PRESENT WITH
16.1.2.2.3. DIAGNOSIS IS BASED ON SERUM AMMONIA LEVELS, AND EVALUATING LIVER FUNCTION VIA THE FOLLOWING:
16.1.2.2.4. TREATMENT IS AIMED AT AMMONIA REDUCTION, WHICH CAN BE ACHIEVED THROUGH:
16.1.3. PULMONOLOGY
16.1.3.1. CYSTIC FIBROSIS
16.1.3.1.1. CYSTIC FIBROSIS (CF) IS AN AUTOSOMAL RECESSIVE INHERITED DISEASE CAUSED BY A MUTATION IN THE GENE CODING FOR A COMPLEX CHLORIDE CHANNEL
16.1.3.1.2. CF IS CAUSED BY MUTATIONS IN THE GENE THAT CODES FOR THE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) PROTEIN
16.1.3.1.3. CF IS THE MOST COMMON LIFE-SHORTENING AUTOSOMAL RECESSIVE DISEASE IN CAUCASIANS, AND OCCURS ONCE IN EVERY 2000 TO 3000 LIVE BIRTHS
16.1.3.1.4. SYMPTOMS OF CYSTIC FIBROSIS USUALLY BEGIN TO PRESENT IN EARLY CHILDHOOD AND COMMONLY INCLUDE MECONIUM ILEUS, RESPIRATORY SYMPTOMS, AND FAILURE TO THRIVE
16.1.3.1.5. THE MAJORITY OF CYSTIC FIBROSIS CASES IN THE UNITED STATES ARE NOW DETECTED THROUGH NEWBORN SCREENING
16.1.3.1.6. IN ADULTS AND OLDER CHILDREN, TWO CRITERIA MUST BE MET FOR THE DIAGNOSIS OF CF:
16.1.3.1.7. FINDINGS CONSISTENT WITH CYSTIC FIBROSIS ON PHYSICAL EXAM INCLUDE WHEEZING, INCREASED ANTEROPOSTERIOR DIAMETER OF THE THORAX, DIGITAL CLUBBING, AND POOR WEIGHT GAIN/FAILURE TO THRIVE
16.1.3.1.8. WHILE CHEST X-RAY IS NOT USED FOR DIAGNOSIS, THE CHEST X-RAYS OF CYSTIC FIBROSIS PATIENTS MAY SHOW HYPERINFLATION, BRONCHIECTASIS, CYST FORMATION, AND FLATTENING OF THE DIAPHRAGMS
16.1.3.1.9. THE COMPLICATIONS OF CYSTIC FIBROSIS ARE MANY AND VARIED
16.1.3.1.10. TREATMENT OF CF VARIES BASED ON THE SPECIFIC MUTATION AND SEVERITY OF DISEASE, BUT TYPICALLY INCLUDES:
16.1.3.1.11. CYSTIC FIBROSIS LUNG DISEASE EXACERBATIONS ARE TYPICALLY TREATED WITH AGGRESSIVE CHEST PHYSIOTHERAPY AND ADDITIONAL ANTIBIOTICS
16.2. OBSTETRICS
16.2.1. A HEALTHY PREGNANCY
16.2.1.1. PHYSIOLOGIC CHANGES OF PREGNANCY
16.2.1.1.1. CARDIOVASCULAR CHANGES THAT OCCUR DURING PREGNANCY INCLUDE AN INCREASE IN CARDIAC OUTPUT AND A DECREASE IN BLOOD PRESSURE, BOTH OF WHICH IMPROVE UTEROPLACENTAL PERFUSION
16.2.1.1.2. RESPIRATORY
16.2.1.1.3. RENAL CHANGES THAT OCCUR DURING PREGNANCY INCLUDE AN INCREASE IN RENAL BLOOD FLOW, INCREASED RENAL SIZE, AND URETERAL DILATION
16.2.1.1.4. ENDOCRINE
16.2.1.1.5. HEMATOLOGY
16.2.1.1.6. GASTROINTESTINAL CHANGES THAT OCCUR DURING PREGNANCY INCLUDE DELAYED STOMACH EMPTYING AND A DECREASE IN LOWER ESOPHAGEAL SPHINCTER TONE
16.2.1.1.7. LOW RISK ACTIVITIES THAT CAN CONTINUE DURING PREGNANCY INCLUDE:
16.3. PEDIATRICS
16.3.1. HEALTH SUPERVISION
16.3.1.1. OVERVIEW OF IMMUNIZATIONS
16.3.1.1.1. THERE ARE TWO MAIN TYPES OF VACCINES: LIVE ATTENUATED VACCINES AND INACTIVATED VACCINES
16.3.1.1.2. THE CENTER FOR DISEASE CONTROL (CDC) DISTRIBUTES AN ANNUAL IMMUNIZATION SCHEDULE FOR CHILDREN AND ADOLESCENTS, AS WELL AS A CATCH-UP SCHEDULE
16.3.1.1.3. IN GENERAL, A VACCINE IS CONTRAINDICATED IF AN ANAPHYLACTIC REACTION TO THAT VACCINE IS EXPERIENCED AND SHOULD BE DISCONTINUED
16.3.2. NEONATOLOGY
16.3.2.1. NEWBORN EXAM - SKIN
16.3.2.2. NEWBORN EXAM - CRANIOFACIAL
16.3.2.3. NEWBORN EXAM - NECK, CHEST, ABDOMINAL, GENITAL, EXTREMITIES
16.3.3. NEONATOLOGY (NICU)
16.3.3.1. NEONATAL RESPIRATORY DISTRESS SYNDROME (NRDS)
16.3.4. NORMAL GROWTH AND DEVELOPMENT
16.3.4.1. NEWBORN GROWTH RATE
16.3.4.2. NEWBORN CALORIC REQUIREMENT
16.3.4.3. BREAST FEEDING VS BREAST MILK JAUNDICE
16.3.4.3.1. BREAST FEEDING JAUNDICE ALSO KNOWN AS “NOT ENOUGH MILK JAUNDICE” IS AN ABNORMAL UNCONJUGATED HYPERBILIRUBINEMIA DURING THE FIRST WEEK OF LIFE RESULTING FROM DECREASED ENTERAL INTAKE AND INCREASED ENTEROHEPATIC CIRCULATION OF BILIRUBIN. THERE IS NO ASSOCIATED INCREASE IN BILIRUBIN PRODUCTION
16.3.4.3.2. BREAST MILK JAUNDICE IS NORMAL EXTENSION OF PHYSIOLOGIC JAUNDICE OF THE NEWBORN, UNCONJUGATED HYPERBILIRUBINEMIA IN THE FIRST WEEK OF LIFE. IT BEGINS AFTER THE FIFTH DAY OF LIFE AND CONTINUES FOR SEVERAL WEEKS
16.3.4.3.3. TAKE HOME POINT:
16.3.4.4. FORMULA TYPES
16.3.4.5. GROWTH CHARTS
16.3.4.6. INTRAUTERINE FACTORS FOR GROWTH
16.3.4.7. TEETH
16.3.4.8. APPROACH TO A CHILD WITH MICROCEPHALY
16.3.4.9. FAILURE TO THRIVE
16.3.4.10. DEVELOPMENTAL MILESTONES: 1 MONTH
16.3.4.11. DEVELOPMENTAL MILESTONES: 2 MONTHS
16.3.4.12. DEVELOPMENTAL MILESTONES: 4 MONTHS
16.3.4.13. DEVELOPMENTAL MILESTONES: 6 MONTHS
16.3.4.14. DEVELOPMENTAL MILESTONES: 9 MONTHS
16.3.4.15. DEVELOPMENTAL MILESTONES: 12 MONTHS
16.3.4.16. DEVELOPMENTAL MILESTONES: 2 YEARS
16.3.4.17. DEVELOPMENTAL MILESTONES: 3 YEARS
16.3.4.18. DEVELOPMENTAL MILESTONES: 4 YEARS
16.3.4.19. DEVELOPMENTAL MILESTONES: 5 YEARS
16.3.4.20. PRIMITIVE REFLEXES
16.3.4.21. DEVELOPMENTAL DELAY
16.3.4.22. LEARNING DISABILITIES
16.3.4.23. SLEEP
16.3.4.24. FLUID MANAGEMENT OF THE PEDIATRIC PATIENT
16.3.4.25. BREAST FEEDING
16.3.4.25.1. THE AMERICAN ACADEMY OF PEDIATRICS (AAP) AND WORLD HEALTH ORGANIZATION (WHO) STRONGLY ADVOCATE BREASTFEEDING AS THE PREFERRED FEEDING FOR ALL INFANTS AND SHOULD BE INITIATED SOON AFTER BIRTH
16.3.4.25.2. STAGES OF LACTOGENESIS
16.3.4.25.3. BENEFITS FOR THE INFANT
16.3.4.25.4. BENEFITS FOR THE MOTHER
16.3.4.25.5. COMPLICATIONS
16.3.4.25.6. CONTRAINDICATIONS
16.3.4.25.7. POSSIBLE VITAMIN DEFICIENCIES IN BREAST FED INFANTS REQUIRES THAT THESE INFANTS RECEIVE:
16.3.4.26. APPROACH TO A CHILD WITH MACROCEPHALY
16.3.4.27. DEVELOPMENTAL MILESTONES: 18 MONTHS
16.3.5. PEDIATRIC CARDIOLOGY
16.3.5.1. TRANSPOSITION OF THE GREAT VESSELS
16.3.5.2. ATRIAL SEPTAL DEFECT (ASD)
16.3.5.3. AORTIC COARCTATION
16.3.5.4. PATENT DUCTUS ARTERIOSUS
16.3.5.5. TETRALOGY OF FALLOT
16.3.5.6. VENTRICULAR SEPTAL DEFECT (VSD)
16.3.5.7. HYPOPLASTIC LEFT HEART SYNDROME
16.3.5.8. EBSTEIN'S ANOMALY
16.3.5.9. TRUNCUS ARTERIOSUS
16.3.5.10. TOTAL ANOMALOUS PULMONARY VENOUS RETURN
16.3.5.11. TRICUSPID ATRESIA
16.3.5.12. PULMONARY ATRESIA
16.3.5.13. PEDIATRIC AORTIC STENOSIS
16.3.6. PEDIATRIC DERMATOLOGY
16.3.6.1. STEVENS-JOHNSON SYNDROME/TOXIC EPIDERMAL NECROLYSIS
16.3.7. PEDIATRIC ENDOCRINOLOGY
16.3.7.1. CONGENITAL HYPOTHYROIDISM (CRETINISM)
16.3.7.2. PRECOCIOUS PUBERTY
16.3.7.3. MCCUNE ALBRIGHT SYNDROME
16.3.8. PEDIATRIC GASTROENTEROLOGY
16.3.8.1. ESOPHAGEAL ATRESIA
16.3.8.2. ESOPHAGEAL FOREIGN BODY
16.3.8.3. PEPTIC ULCER
16.3.8.4. PYLORIC STENOSIS
16.3.8.5. DUODENAL ATRESIA
16.3.8.6. INTUSSUSCEPTION
16.3.8.7. MECKEL'S DIVERTICULUM
16.3.8.8. CONSTIPATION
16.3.8.9. HIRSCHSPRUNG'S MEGACOLON
16.3.8.10. IMPERFORATE ANUS
16.3.8.11. GILBERT SYNDROME
16.3.8.12. CRIGLER-NAJJAR SYNDROME
16.3.8.13. ALAGILLE SYNDROME
16.3.8.14. ZELLWEGER SYNDROME
16.3.8.15. REYE SYNDROME
16.3.8.16. A1-ANTITRYPSIN DEFICIENCEY
16.3.8.17. HEPATOBLASTOMA
16.3.8.18. BACTERIAL ENTERITIS/ENTEROPATHOGENS
16.3.8.19. MALROTATION
16.3.8.20. CONSTIPATION
16.3.9. PEDIATRIC HEMATOLOGY & ONCOLOGY
16.3.9.1. PEDIATRIC SICKLE CELL ANEMIA
16.3.9.2. HEMOLYTIC DISEASE OF THE NEWBORN (ERYTHROBLASTOSIS FETALIS)
16.3.9.3. FANCONI ANEMIA
16.3.9.4. ANEMIAS IN THE PEDIATRIC POPULATION
16.3.9.5. INHERITED HEMATOLOGIC DISORDERS
16.3.10. PEDIATRIC INFECTIOUS DISEASE
16.3.10.1. BOTULISM
16.3.10.2. MENINGOCOCCEMIA
16.3.10.3. OCCULT BACTEREMIA IN CHILDREN
16.3.10.4. SEPSIS IN CHILDREN
16.3.10.5. HIV
16.3.10.6. RUBEOLA
16.3.10.7. RUBELLA
16.3.10.8. ERYTHEMA INFECTIOSUM
16.3.10.9. SCARLET FEVER
16.3.10.9.1. DEFINITION
16.3.10.9.2. SIGNS/SYMPTOMS
16.3.10.9.3. DIAGNOSIS/SCREENING
16.3.10.9.4. COMPLICATIONS
16.3.10.9.5. TREATMENT
16.3.10.10. VARICELLA
16.3.10.11. HAND-FOOT-MOUTH DISEASE
16.3.10.12. TORCH INFECTIONS
16.3.10.13. MUMPS
16.3.10.14. ROCKY MOUNTAIN SPOTTED FEVER
16.3.10.15. TOXIC SHOCK SYNDROME
16.3.10.16. COCCIDIODOMYCOSIS
16.3.10.17. HISTOPLASMOSIS
16.3.10.18. SCHISTOSOMIASIS
16.3.10.19. VISCERAL LARVA MIGRANS
16.3.10.20. ANIMAL BITES
16.3.10.21. NEONATAL SEPSIS
16.3.11. PEDIATRIC NEPHROLOGY
16.3.11.1. RENAL TUBULAR ACIDOSIS
16.3.11.2. WILMS TUMOR
16.3.11.3. RENAL DYSPLASIA
16.3.11.4. RENAL HYPOPLASIA
16.3.11.5. FANCONI SYNDROME
16.3.11.6. HORSESHOE KIDNEY
16.3.11.7. FEBRILE PROTEINURIA
16.3.11.8. RENAL VEIN THROMBOSIS IN INFANCY
16.3.11.9. CRYPTORCHIDISM
16.3.12. PEDIATRIC ORTHOPEDICS AND RHEUMATOLOGY
16.3.12.1. OSTEOGENESIS IMPERFECTA
16.3.12.2. DUCHENNE MUSCULAR DYSTOPHY
16.3.12.3. EHLERS-DANLOS SYNDROME
16.3.12.4. KAWASAKI'S DISEASE
16.3.12.5. TORUS FRACTURE
16.3.12.6. GROWTH PLATES
16.3.12.7. OSTEOMYELITIS
16.3.12.8. SEPTIC ARTHRITIS
16.3.12.9. TRANSIENT SYNOVITIS
16.3.12.10. OSGOOD-SCHLATTER DISEASE
16.3.12.11. LEGG-CALVE-PERTHES DISEASE
16.3.12.12. SLIPPED CAPITAL FEMORAL EPIPHYSIS
16.3.12.13. THE LIMPING CHILD
16.3.12.14. TODDLER'S FRACTURE
16.3.12.15. DEVELOPMENTAL DYSPLASIA OF THE HIP (DDH)
16.3.12.15.1. PREVIOUSLY KNOWN AS CONGENITAL HIP DYSPLASIA
16.3.12.15.2. DISORDER OF NEWBORNS WITH INSTABILITY IN THEIR HIP JOINTS, WHICH MAY PROGRESS TO A CHRONIC DISLOCATION IF IT IS NOT DIAGNOSED EARLY
16.3.12.15.3. ALTHOUGH THERE IS NO STRONG GENETIC RISK, THE “FOUR FS” ARE SEEN IN PATIENTS WITH DEVELOPMENTAL DYSPLASIA OF THE HIP:
16.3.12.15.4. DIAGNOSIS AND EXAM FINDINGS
16.3.12.15.5. OTHER CLINICAL FINDINGS AND WORKUP OF DDH
16.3.12.15.6. TREATMENT
16.3.12.16. OSTEOID OSTEOMA
16.3.12.17. SALTER-HARRIS FRACTURE CLASSIFICATION
16.3.12.18. GREENSTICK FRACTURE
16.3.12.19. SUBLUXATION OF THE RADIAL HEAD
16.3.12.20. PEDIATRIC OSTEOPETROSIS
16.3.12.21. JUVENILE IDIOPATHIC ARTHRITIS
16.3.12.21.1. JUVENILE IDIOPATHIC ARTHRITIS (JIA) IS THE MOST COMMON RHEUMATIC DISEASE IN CHILDREN THAT REFERS TO A GROUP OF DISORDERS THAT ALL SHARE THE CHARACTERISTIC OF ARTHRITIS
16.3.12.21.2. THE CRITERIA FOR CLASSIFICATION INCLUDE THE FOLLOWING:
16.3.12.21.3. JUVENILE IDIOPATHIC ARTHRITIS OCCURS IN ABOUT 22/100,00 CHILDREN AND AFFECTS GIRLS MORE THAN BOYS
16.3.12.21.4. THE MOST COMMON SUBTYPES IN DESCENDING ORDER ARE: OLIGOARTHRITIS, POLYARTHRITIS, AND SYSTEMIC-ONSET ARTHRITIS
16.3.12.21.5. THE ETIOLOGY OF JIA IS NOT COMPLETELY UNDERSTOOD BUT TWO COMPONENTS ARE CONSIDERED NECESSARY: IMMUNOLOGIC SUSCEPTIBILITY AND AN EXTERNAL TRIGGER
16.3.12.21.6. CLINICAL SYMPTOMS
16.3.12.21.7. A RARE BUT POTENTIALLY FATAL COMPLICATION IS MACROPHAGE-ACTIVATING SYNDROME THAT CAN PRESENT AT ANY TIME IN THE DISEASE COURSE
16.3.12.21.8. JIA IS A CLINICAL DIAGNOSIS OF EXCLUSION WITHOUT ANY DIAGNOSTIC LABORATORY TESTS
16.3.12.21.9. IMAGING
16.3.12.21.10. THE GOAL OF TREATMENT IS TO ACHIEVE REMISSION AND STOP JOINT DAMAGE
16.3.12.22. JUVENILE RHEUMATOID ARTHRITIS (JRA)
16.3.13. PEDIATRIC PULMONARY
16.3.13.1. CROUP
16.3.13.2. INHALED FOREIGN BODY
16.3.13.3. EPIGLOTTITIS
16.3.13.4. BACTERIAL TRACHEITIS (PSEUDOMEMBRANOUS CROUP)
16.3.13.5. PEDIATRIC PNEUMONIA
16.3.13.6. BRONCHIOLITIS
16.3.13.6.1. BRONCHIOLITIS IS INFLAMMATION OF THE BRONCHIOLES THAT RESULTS IN INFLAMMATORY BRONCHIOLAR OBSTRUCTION
16.3.13.6.2. BRONCHIOLITIS MOST COMMONLY OCCURS IN CHILDREN UNDER 2 YEARS OF AGE, WITH TWICE AS MANY GIRLS AFFECTED AS BOYS
16.3.13.6.3. RESPIRATORY SYNCYTIAL VIRUS (RSV) IS THE MOST COMMON CAUSE OF BRONCHIOLITIS, BUT OTHER COMMON RESPIRATORY VIRUSES MAY ALSO CAUSE BRONCHIOLITIS
16.3.13.6.4. SINCE BRONCHIOLITIS IS CAUSED BY INFECTION WITH VARIOUS RESPIRATORY VIRUSES, EPIDEMICS OCCUR DURING THE COLD AND FLU SEASON (NOVEMBER TO APRIL)
16.3.13.6.5. PATIENTS WITH CARDIAC DISEASE, LUNG DISEASE, OR IMMUNODEFICIENCIES, AND THOSE LESS THAN 3 MONTHS OF AGE, ARE AT RISK FOR SEVERE DISEASE REQUIRING HOSPITALIZATION FOR RESPIRATORY SUPPORT
16.3.13.6.6. PATIENTS TYPICALLY PRESENT WITH A GRADUAL ONSET OF UPPER RESPIRATORY SYMPTOMS SUCH AS:
16.3.13.6.7. PATHOPHYSIOLOGY
16.3.13.6.8. WHILE BRONCHIOLITIS IS A CLINICAL DIAGNOSIS, MANY HOSPITALS TEST ALL YOUNG CHILDREN WITH SYMPTOMS OF BRONCHIOLITIS FOR RESPIRATORY SYNCYTIAL VIRUS (RSV)
16.3.13.6.9. WORSENING AIRWAY OBSTRUCTION CAN LEAD TO HYPOXIA AND APNEA
16.3.13.6.10. TREATMENT IS PRIMARILY SUPPORTIVE AND INCLUDES SUCTIONING, BRONCHODILATORS, AND SUPPLEMENTAL OXYGEN
16.3.13.7. OTHER IMPORTANT PEDIATRIC PULMONOLOGY TOPICS
16.3.14. PEDIATRIC SYNDROMES
16.3.14.1. TRISOMY 18
16.3.14.2. TRISOMY 13
16.3.14.3. TURNER SYNDROME
16.3.14.4. INFANTILE SPINAL MUSCULAR ATROPHY
16.3.14.5. TRISOMY 21
16.3.14.6. VACTERL AND CHARGE