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Infancy Diseases Path Exam 2 WQ (Sudden Infant Death Syndrome (SIDS) …

- - - - Chromosomal Abnormality:
        
        Down syndrome
        
        Turner syndrome
        
        Klinefelter syndrome
      - Single Gene Mutation - Mendelian Inheritance
        
        Hedgehog signaling pathway
        
        Holoprosencephaly (forbrain & midface) *common
        
        Syndactyly (fused fingers/toes)
        
        Polydactyly (extra digits)
    - - Viruses
        
        Rubella emtryopathy
        
        9 wks before gestation contracted
        
        Triad of Defects:
        
        Congenital Cataracts
        
        Cardiac Defects (PDA)
        
        Deafness
        :heavy_plus_sign:
        
        Microcephaly
        
        CMV
        
        :star:Most common fetal infection
        
        CNS - microcephaly, mental retardation
        
        Deafness
        
        Heaptosplenomegaly
        
        Zika
        
        CNS - microcephaly
      - :star2:Teratogens
        
        Drugs that cause anomalies
        
        1%
        
        Thalidomide
        
        1st trimester
        
        limb malformations
        
        currently used for cancers
        
        Retinoic Acid - Accutane
        
        Used to treat severe acne
        
        CNS
        
        Cardiac
        
        Craniofacial defects
        (cleft lip/palate - deregulation of TGF-B signals)
        
        Alcohol - Fetal Alcohol Syndrome
        
        Esp. harmful in 1st trimester
        
        Pre- & Post-Growth Retardation
        
        Characteristic facial anomalies
        
        Psychomotor disturbances
        
        Low IQ
        
        :keycap_star:: Most common cause mental retardation
        
        Anticonvulsants
        
        Warfarin
        
        Cigarette Smoke Nicotine
        
        Not proven as convincing teratogen
        
        High incidence spontaneous abortion, premature labor, placental abnormalities
        
        Low birth weight
        
        Prone to SIDS
        
        If stop smoking - birth weight normal
      - Maternal Diabetes
        
        6-10% of major malformations in infants
        
        Fetal macrosomia (mom's hyperglycemia > inc. Insulin in baby > acts as growth hormone)
        
        Diabetic embryopathy (cardiac, neural tube, CNS)
        
        Oral agents not approved in pregnancy
        
        DM pts must be on insulin during pregnancy
      - Radiation
        
        Microcephaly
        
        Blindness
        
        Skull defects
        
        Spina bifida
  - - - 1. Malformations
        
        One gene or chromosome
        
        Heritable (subsequent pregnancies)
        
        Single Body System Involvement
        
        CHD
        
        Anecephaly
        
        Cleft Lip
        :star2: most common
        
        Syndactyly
        
        Multiple Malformations w/ Multiple Organs
    - - Generalized or Localized Compression
        (abnormal forces, uterine constraint)
        
        Occurs 35-38 wks gestation
        
        3. Deformations
        
        Common (2%)
        
        EXAMPLES
        1. Club Feet (part of Potter Sequence)
        2. fetus growing faster than uterus
        
        multiple fetuses
        
        abnormal position
      - Secondary Destruction of Organ or Body -
        Previously Normal
        
        Intra-uterine infections
        
        Drugs
        
        Alcohol
        
        2. Disruptions
        
        EXAMPLES
        
        Amniotic band - amnion ruptures > compresses part of fetus obstructing circulation > loss of extremity
    - - Cascade of anomalies:
        Typically triggered by:
        single localized abberation in organogenesis
        
        CAUSES:
        Multiple Anomolies
        
        EXAMPLE
        Oligohydramnios / Potter Sequnce
        Decreased amniotocis fluid
- - - - Risk Factors:
        
        Male :male_sign:
        
        Maternal DM (insulin supresses surfactant secretion)
        
        Cesarean delivery (normal delivery process stimulates surfactant secretion)
      - Pathogenesis:
        
        Type II Alveolar cells :forbidden: surfactant after 35 weeks
        
        Mutation in SFTPB or SFTBC gene
        
        Stiff lungs
        
        Hyaline membrane forms (barrier to gas xchange)
        
        Synthesis of Surfactant Regulated by:
        
        Cortosol
        
        Insulin ( :red_cross:synthesis)
        
        Prolactin
        
        Thyroxin
        
        TGF-B
        
        Corticosteroids :heavy_plus_sign:surfactant lipids
        
        Labs:
        
        Amniotic fluid phospholipid level = estimate of surfactant level
        
        Pathological ID:
        
        Gross Lungs:
        
        Normal size, but SOLID & AIRLESS (no crepitance)
        
        Reddish purple
        
        Sink in water
        
        Looks like liver tissue
        
        Microscopic Lungs:
        
        Atelectasis & alveoli poorly developed/collapsed
        
        Hyaline membranes composed of fibrin & cell debris line alveoli
        
        Minimal inflammation
        
        48h: reparative changes appear
      - :pill:Treatment:
        
        Corticosteroids to mom
        
        Surfactant to infant
        
        100% O2 support (12-24 h)
        
        Recovery begins 3-4 days later
        
        Complications O2 Therapy in NRDS:
        OXYGEN TOXICITY
        "post-recovery complications"
        
        Retrolental Fibroplasia
        :star:Cause of blindness
        
        VEGF-induced proliferation behind lens (retrolental)
        
        Vessels contract
        
        Retinal detachment & hemorrhage
        
        :arrow_up::arrow_up:Incidence :!:
        
        Risk Factors:
        
        Degree of prematurity
        
        O2 exposure
        
        Genetic predisposition
        
        Bronchopulmonary Dysplasia = life-long dyspnea
        
        Oxygen dependence after 28 days
        
        Hyperoxemia, hyperventilation, premature, cytokines, vascular maldevelopment
        
        Striking decrease in lung septation
      - Prevention:
        
        Delay labor
        
        Induce fetal lung development via antenatal corticosteroids
      - Untreated Infant (No surfactant):
        
        Resuscitation may be necessary at birth
        
        Few min. after birth - OK
        
        30 min later breathing difficult
        
        :star2:X-Ray: Uniform, minute reticulogranular densities "ground glass appearance"
        
        Retraction of lower ribs, sternum on inspiration
        
        Expiratory grunt
        
        Respiratory distress worsens > cyanosis > Rales heard on both lung fields
      - Check phospholipid levels in amnion to correlated to surfactant levels
    - - Pathogenesis:
        
        Not fully understood
        
        Multifactorial
        
        :star2:Strong association w/ enteral feeding/formula
        
        Introduce gut bacteria
        
        Tissue injury
        
        Mucosal necrosis of gut
        
        Gangrene
        
        Perforation
        
        Pathological ID:
        
        Gross:
        Terminal ileum, cecum, right colon:
        
        Destention
        
        Congestion
        
        Gangrenous w/ performation
        
        Peritonitis
        
        Sepsis & shock
        
        Microscopic:
        
        Mucosal or Transural necrosis
        
        Ulceration
        
        Bacterial colonization
        
        Submucosal gas bubbles
        
        Labs:
        
        Increased platelet activating factor (PAF) in stool & serum
        
        Abdominal Xray:
        
        gas in intestinal wall
        (pneumatosis intestinalis)
      - Clinical S&S:
        :star:Do not appear until after first oral feeding
        
        Bloody stools
        
        Abdominal distention
        
        Circulatory collapse
- - - - Group B Strep :star:
    - - Listeria
      - Candida
- - - - NORMALLY:
        
        LACTOSE
        
        GLUCOSE :heavy_plus_sign: GALACTOSE
        
        GALACTOSE 1 PHOSPHATE
        
        :!!:this builds up :!!:
        
        :forbidden::forbidden::forbidden:
        Galactose-1-phosphate uridyl transferate (GALT)
        
        GLUCOSE
        
        S&S with MILK :glass_of_milk: Ingestion:
        1-2 days:
        
        Vomiting & diarrhea
        
        Week 1:
        
        Fatty liver & fibrosis
        
        Jaudice
        
        Hepatomegaly
        
        1 more item...
        
        Dx:
        
        Urinalysis:
        
        Find reducing sugar (other than glucose) in urine)
        
        GALT assay in leukocytes & RBCs
        
        Antenatal dx possible
        
        :pill:Treatment:
        
        1-2 years of life = NO GALACTOSE
        
        :warning:Older pts despite dietary restrictions =
        
        Speech disorder
        
        Gonadal failure
        
        Ataxia (rare)
    - - Mechanism in:
        
        First generation
        Child
        
        :male_sign:
        Must follow restricted diet until adulthood
        
        :female_sign:
        Must follow restricted diet until adulthood OR PREGNANCY
        
        At childbearing age,
        
        clinicaly asymptomatic
        
        :arrow_up::arrow_up::arrow_up: Phenylalanemia
        
        COMPLICATIONS TO BABY = Teratogenic effects of Phenylalanine & metabolites
        
        Mental retardation
        
        Microcephalic
        
        CHD
        
        Must initiate maternal phenylalanine dietary restriction BEFORE conception & throughout pregnancy
      - Dx:
        
        Measure serum phenylalanine level to differentiate
        
        Benign PKU
        
        modest increase in phenylalanine
        
        :heavy_plus_sign: screening test, but do NOT develop classic PKU
        
        :pill: Treatment:
        
        Dietary Restriction (very successful)
        
        Somatic gene therapy
        
        Classic PKU
        
        :five:x or more increase in phenylalanine
        
        98% Mutant Gene
        
        2% abnormality in synthesis OR recycling of cofactor tetraBH4
        
        CANNOT be treated by dietary restriction
  - - - Dehydrated mucous layer
        
        Defective mucociliary action
        
        Mucous plug
        
        Obstructed organs
        
        Increased bacterial infections
        
        LUNG INFECTIONS = MOST SERIOUS COMPLICATION
        95% of CF pts die of complications c/b lung infections
        
        2* Bacterial infection
        
        Bronchitis & Bronchiectasis