Rheumatoid Arthritis

Prevalence: 1 in 100, 75% women
Sx: progressive disability, systemic complications, early death

Dx: Anti-citrullinated protein antibody
Rx: initial aggressive therapy. Escalate based on disease intensity. Goal: remission.

COMBO DMARD plus prednisone/infliximab

DMARDs:
Methotrexate
Jakvinus (Tofacitinib) (JAK inhibitor class)

The endemic mycoses compared

Histoplasmosis:
Prevalence: Most common
Sx:Caves. Small yeast forms in neutrophils, patients on TNF-alpha inhibitors, hypoadrenalism. Pancytopenia, tongue ulcer,
Dx: Urinary antigen, narrow-based multiple budding reproduction.
Tx: Itraconazole, but beware of heart failure, in which case, or in pregnancy, use Amphotericin B.


Coccidioidomycosis:
Prevalence: 150,000 cases a year, Second Most common
Sx: mucosal lesions in 25% of cases, "Valley fever", "desert bumps" =  erythema nodosum, most often in anterior tibia region
Dx: with serology, biopsy with granulomas, no budding reproduction, CS fluid shows high eosinophils, pathognomonic.
Tx: 1 month fluconazole and serial serology q2-4 months, for meningitis requires life-long fluconazole for prophylaxis: Relapse extremely common. Amphotericin 2nd line and for pregnant.


Blastomycosis:
Prevalence: Third most common
Sx: Ohio River Valley, acute PNA, miliary lung lesions, affects skin, bone, GU tract, prostatitis, verrucous lesions in head/neck region.
Dx: with culture. broad-based single budding reproduction.


Paracoccidiomycosis:
Prevalence: 80% cases in Brazil.
Dx: Captain's wheel on microscopy


Generally (except yeast), mold in cold (environment), yeast in heat (host organism).

Always: Mold-hyphae, yeast-spherical unicellular

Disorders of Structure

Marfan's Syndrome (Autosomal Dominant)
Prevalence:
Defect: Fibrillin
Symptoms: tall stature, arachnodactyly, prone to ascending aortic aneurysm, ligamentous laxity, pectus excavatum, myopia, scoliosis

Osteogenesis Imperfecta (Autosomal Dominant)
Prevalence: 1 in 7,000 in USA
Defect: Type I Collagen
Symptoms: prone to fracture, hearing loss later in life.

Ehlers-Danlos Syndrome (variable inheritance)
Prevalence: 1 in 5,000 worldwide
Defect: Type III Collagen
Symptoms: Hyperflexible joints, fragile joints, early onset Osteoarthritis, Easy bruising, extra skin folds, Livedo reticularis, piezogenic papules, Raynaud's phenomenon, Valvular heart disease, Hiatal hernia, GERD, Gorlin's sign (can touch tongue to nose), sleep apnea

Types of Arm Somatic Dysfunctions

Anterior Radial Head: Falls backwards onto a supinated arm

Posterior Radial Head: Falls backwards onto a pronated arm

Lateral epicondylitis (Tennis elbow): Repetitive stress to extensor carpi radialis (brevis: deep radial nerve, longus: radial nerve). Chronic injury.

Medial epicondylitis (Golfer's elbow): Repetitive stress to the flexor carpi ulnaris (ulnar nerve)

Subluxation of radial head (nursemaid's elbow): arm pulled up suddenly. Common in children.
Tx: Manual reduction by supinating arm held at 90 degrees of flexion.

Subluxation of ulnar head: uncommon in fall on outstretched hand (FOOSH) often with frx.

Common Rash Diseases of Childhood

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APGAR Scoring

`If baby has apnea, cyanosis, poor muscle tone, and bradycardia (<100bpm) during first minute of life, positive pressure ventilation on room air is warranted.

Oxygen may also be titrated to achieve SpO2 of 90%.

Anatomical impairments of the fetal/neonatal brain

Hydranencephaly: fluid filled cavity where cerebral hemispheres should be, seen with ultrasound.

Lissencephaly: Lack of gyri on cerebrum, "smooth brain", accompanied by severe retardation, seen with ultrasound.

Schizencephaly: Fluid-filled clefts that communicate with the lateral gyri, seen with ultrasound.

Teratoma: Mass in brain that often causes macrocephaly, seen on ultrasound. Usually fatal/stillbirth.

Autosomal Recessive Diseases of Childhood

Phenylketonuria (Autosomal Recessive)
Prevalence: 1 in 10,000 Caucasians
Def. enzyme: phenylalanine hydroxylase, or lack of its cofactor, tetrahydrobiopterin.
Build-up: Phenylalanine
Symptoms: Phenylpyruvate in urine (metabolized from phenylalanine), severe mental retardation, often light colored hair and skin
Rx: Kuvan (sapropterin), low protein diet, Most US facilities recommend that phenylalanine levels be maintained in the range of 2-6 mg/dL (120-360 µmol/L).

Alkaptonuria (Autosomal Recessive)
Prevalence: 1 in 100,000
Def. enzyme: homogentisate 1,2 dioxygenase
Build-up: Phenylalanine and Tyrosine which leads to toxic build-up of homogentisate.
Symptoms: Dark urine from protein build-up when left to stand, NOT immediately; "black bones", osteoporosis, increased pigmentation in cartilage of ear, valvular heart and aortic disease, hearing loss after age 40.
Rx: In the past Hi Dose Vit C and protein restriction, but recent studies have shown not effective. Possible new treatment is nitisinone, but this will cause tyrosine build-up, effects unknown.

Maple Syrup Urine Disease (Autosomal Recessive)
Prevalence: 1 in 200,000
Def. enzyme: alpha-ketoacid dehydrogenase
Build-up: Isoleucine, Leucine, Valine (Mnemonic: I Like Vermont Maple Syrup)
Symptoms: Ketoacidosis, Neuro symptoms, Sweet smelling, normal-looking urine
Rx: Restrict Branch chain AA consumption

Hyperprolinemia (Autosomal Recessive)
Prevalence: 1 in 200,000 in the US
Def. enzyme: proline oxidase
Build-up: proline in blood, urine, CSF
Symptoms: seizures, intellectual dysfunction, schizophrenia
Rx: None

Homocystinuria (Autosomal Recessive)
Prevalence: 1 in 300,000
Def. enzyme: Cystathionine Beta Synthase (see diagram)
Build-up: Homocysteine
Symptoms: Lens dislocation leading to near-sight, high stroke risk, thromboembolic risk, osteoporosis, learning disability, pectus carinatum/excavatum
Rx: High dose Vit. B6, Betaine (Cystadene) to clear Homocysteine, low protein (low methionine) diet.