nprglobalhealth
nprglobalhealth:

Chikun-What? A New Mosquito-Borne Virus Lands In The U.S.
Pediatrician Jennifer Halverson will never forget her 36th birthday.
The St. Paul native was volunteering at a maternity clinic in Port-au-Prince, Haiti. She felt great — she went to her job that day and then out to dinner with friends.
But when she got home and went to sleep that night in May, something didn’t feel right.
"Then I woke up at 3 in the morning," she says, "and what struck me the most was that my shoulders were on fire. It was like I was being stabbed in both shoulders."
The pain quickly spread to all of Halverson’s joints — her hips, her knees and elbows. Even her fingers and toes hurt.
Halverson also had a fever, a rash and painful sores in her mouth. When she flew home to Minnesota, the doctors confirmed what she thought might be true: chikungunya. Though the rash and sores quickly faded, and the illness is rarely fatal, the joint pain it causes can last for months. Halverson is still hurting — she says she still can’t open jars.
A year ago, chikungunya didn’t even exist in the Western Hemisphere. It was only found in Africa and Asia. But in October, the mosquito-borne illness cropped up on the island of St. Martin. Then it spread like wildfire.
The Pan American Health Organization reported Monday that over the past seven months, chikungunya has sickened more than a quarter-million people in the Caribbean. And the nasty virus has already started to trickle into the U.S.
Continue reading.
Photo: A resident of San Cristobal waits to be treated for symptoms of chikungunya fever at Juan Pablo Hospital in the Dominican Republic. The Caribbean nation has reported more than 100,000 cases this year. (Erika Santelices/AFP/Getty Images)

3 cases in Peru (pt with severe joint pain)

nprglobalhealth:

Chikun-What? A New Mosquito-Borne Virus Lands In The U.S.

Pediatrician Jennifer Halverson will never forget her 36th birthday.

The St. Paul native was volunteering at a maternity clinic in Port-au-Prince, Haiti. She felt great — she went to her job that day and then out to dinner with friends.

But when she got home and went to sleep that night in May, something didn’t feel right.

"Then I woke up at 3 in the morning," she says, "and what struck me the most was that my shoulders were on fire. It was like I was being stabbed in both shoulders."

The pain quickly spread to all of Halverson’s joints — her hips, her knees and elbows. Even her fingers and toes hurt.

Halverson also had a fever, a rash and painful sores in her mouth. When she flew home to Minnesota, the doctors confirmed what she thought might be true: chikungunya. Though the rash and sores quickly faded, and the illness is rarely fatal, the joint pain it causes can last for months. Halverson is still hurting — she says she still can’t open jars.

A year ago, chikungunya didn’t even exist in the Western Hemisphere. It was only found in Africa and Asia. But in October, the mosquito-borne illness cropped up on the island of St. Martin. Then it spread like wildfire.

The Pan American Health Organization reported Monday that over the past seven months, chikungunya has sickened more than a quarter-million people in the Caribbean. And the nasty virus has already started to trickle into the U.S.

Continue reading.

Photo: A resident of San Cristobal waits to be treated for symptoms of chikungunya fever at Juan Pablo Hospital in the Dominican Republic. The Caribbean nation has reported more than 100,000 cases this year. (Erika Santelices/AFP/Getty Images)

3 cases in Peru (pt with severe joint pain)

¡¡¡¡¡FELIZ DÍA MI BELLO PERÚ!!!!!

¡No hay nada que me haga sentir más orgullosa, que ser peruana! Este post está dedicado a todos los peruanos que trabajan en el extranjero. Siempre lleven bien en alto el nombre de nuestro hermoso país. ¡Feliz 28!

HAPPY INDEPENDECE DAY, PERU!!!!

There’s nothing that makes me prouder, than being Peruvian! This post is dedicated to every Peruvian working abroad. Let’s show everyone how wonderful our country is! 

And if any of you guys decide to visit my country, there’s only one advice I can give you:

EAT

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ALL

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THE.

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FOOD

image

YOU

image

CAN

image

Renata.

Autosomal Dominant Diseases Mnemonic: HAT OF MAN POWER VL

  • H untington’s disease: CAG triplet, chorea, anticipation, delayed age of onset, alteration of gene expression due to hypermethilation of histones
  • H ereditary spherocitosis: membrane defect --> anykrin & spectrin
  • H ereditary Hemorragic Telangectasia (Osler-Weber-Rendu Sd): mucosal telangectasias, recurren epistaxis, skin decoloration, AVM, GI bleeding (hematochesia)
  • H ypertrophic Obstructive Cardiomyopathy: sudden <3 death, MC mutation, beta-myosin heavy chain
  • H ypokalemic Periodic Paralysis: episodes of muscle weakness, severe paralysis, channelopathy, ↓K+ serum (goes into muscle cells)
  • A chondroplasia: Fibroblast Growth Factor Receptor 3 gene (FGFR-3), chromosome 4
  • T uberous Sclerosis: T-S genes; TSC-1(hamartin), TSC-2(tuberin), chromosome 16. Kidney angiolipomas, <3 rhabdomyomas, tubers in brain (non-malignant), astrocytomas, seizures, developmental delay, MR, behavioral problems, hamartomas, skin abnormalities (shagreen patches, ashleaf spots, sebaceous adenomas, facial angiofibromas)
  • .
  • O steogenesis Imperfecta (except type VII): type 1 collagen
  • F amilial hypercholesterolemia: type IIa, LDL receptor deficiency, chromosome 19
  • F amilial Adenomatous Polyposis (FAP) & Peutz Jeghers Sd: APC gene, chromosome 5
  • .
  • M arfan Sd: defective fibrillin, chromosome 15
  • M yotonic Dystrophy: CTG triplet, anticipation. DMPK gene, abnormal expression of Myotonin Protein Kinase. Muscle loss, <3 arrythmia, testicular atrophy, frontal baldness, cataracts.
  • A cute Intermitent Porphyria: porphobillinogen deaminase deficiency, dark, port-wine urine, delayed age of onset.
  • N eurofibromatosis type I: NF1 gene, VonRecklinghausen, chromosome 17, sphenoid dysplasia, congenital pseudoarthrosis, scoliosis, meningiomas, gliomas, pheochromocytoma.
  • .
  • P olydactyly: ulnar, radial, central.
  • P olycystic Kidney Disease (ZD - adults): PCKD1 gene (85%) - chromosome 16; PCKD2 gene (15%) -chromosome 4; large, round cysts. Assoc. w/ cysts in liver, pancreas, berry aneurisms in circle of Willis, colonic diverticula, MVP.
  • O steopetrosis Type II – adult type: thick, dense bones (marble bones), osteoclast disfunction.
  • W aardenburg Sd: deafness, lateral displacement of inner canthi, hypertelorism, white patches of skin in ventral midline.
  • E hlers - Danlos Sd: it can be AR too. Collagen cross linking defect.
  • R etinoblastoma: Rb gene, chromosome 13
  • .
  • V on Hipel Lindau: VHL tumor suppresor gene, chromose 3, benign/malignant tumors (CNS), capillary hemangioblastomas, clear cell ca of kidney, pheocrhomocytomas, pancreactic NE tumors.
  • V on Willebrand Disease: vWF deficiency
  • L i Fraumeni Sd: p53 mutation, young age onset of malignancy, <45yo, family hx, cancer everywhere (breast, brain, leukemias, adrenal cortex)

Autosomal Recessive Diseases List

  • Abetalipoproteinemia: decrease ApoB-48, Apo B-100; pigmentary degeneration of retina, acanthocytes, steatorrhea, cerebellar ataxia.
  • Acute Fatty Liver of Pregnancy: microvesicular steatosis in the liver, mitochondrial dysfunction in the oxidation of fatty acids leading to an accumulation in hepatocytes
  • Alkaptonuria: homogentisate oxidase deficiency, increase homogenistic acid, ochronosis, dark blue urine.
  • AcylCoA Dehydrogenase deficiency (MCAD): fasting hypoglycemia, no ketone bodies, dicarboxilic acidemia.
  • Bernard Soulier Sd: gp1b deficiency, prolonged bleeding time
  • Bloom Sd: chromosome 15, Ashkenazi Jews, BLM gene.
  • Carpenter Sd: craniosynostosis, acrocephaly, craniofacial asymmetry, increased ICP, cutaneous syndactyly, polydactily, mild-profound MR.
  • Chediak Higashi Sd: Lyst gene mutation, microtubule polymerization defect, no phagolysosome formation, albinism.
  • Chondrodystrophy: normal-sized trunk and abnormally short limbs and extremities (dwarfism)
  • Congenital Adrenal Hyperplasia: 17alpha or 21beta or 11 beta hydroxylase deficiency; enlargemente od adrenal glands due to increase ACTH
  • Congenital Hepatic Fibrosis: hepatic (periporta) fibrosis, irregularly shaped proliferating bile duct, portal hypertension, renal cystic disease.
  • Cystic Fibrosis: CFTR gene, Phe508, defective Chloride channel, chromosome 7.
  • Dubin-Johnson Sd: direct hyperBbnemia, cMOAT deficiency, black liver
  • Endocardial Fibroelastosis: restrictive/infiltrative cardiomyopathy, thick fibroelastic tissue in endocardium of young children, <2yo
  • Familial Mediterranean Fever: chromosome 16, recurrent autoinflammatory disease, characterized by F°, PMN disfx, sudden attacks pain/inflammation (7 types of attacks (abdominal, joints, chest, scrotal, myalgias, erysipeloid, fever). Complication: AA-amyloidosis
  • Fanconi Anemia: genetic loss of DNA crosslink repair, often progresses to AML, short stature, ↑incidence of tumors/leukemia, aplastic anemia
  • Friedreich’s Ataxia: GAA triplet repeat, chromosome 9, neuronal degeneration, progressive gait & limb ataxia, arreflexia, hypertrophic cardiomyopathy, axonal sensory neuropathy, kyphoscoliosis, dysarthria, hand clumsiness, loss of sense of position, impaired vibratory sensation.
  • Gaucher’s disease: glucocerebrosidase deficiency, glucocerebroside accumulation, femur necrosis, crumpled paper inclusions in macrophages.
  • Ganzman’s thromboasthenia: gpIIbIIIa deficiency, deficient platelet aggregation.
  • Hartnup Disease: tryptophan deficiency, leads to niacin deficiency, pellagra-like dermatosis
  • Hemochromatosis: HFE gene, C282Y MC mutation, chromosome 6, unrestricted reabsorption of Fe+ in SI, iron deposits in organs, bronze diabetes, DM1, malabsorption, cardiomyopathy, joint degeneration, increased iron, ferritin, TIBC. Complications: liver cirrhosis, hepatocelullar carcinoma
  • Homocystinuria: due to B6 deficiency (defective Cystathionine synthase) or due to B9,B12 deficiency (defective Homocysteine Methyltrasnferase), dislocated lenses (in & down), DVT, stroke, atherosclerosis, MR.
  • Krabbe's Disease: Galactocerebrosidase deficiency, galactocerebroside accumulation, gobloid cells, optic atrophy, peripheral neuropathy.
  • Leukocyte Adhesion Defect (LAD): CD-18+ deficiency, omphalitis in newborns, chronic recurrent bacterial infxs, increase WBC count, no abscess or pus formation.
  • Metachromic Leukodystrophy: Aryl-sulfatase A deficiency, sulfatides accumulation, Demyelination (central & peripheral), Ataxia, Demantia (DAD)
  • Niemann-Pick Disease: sphingomyelinase deficiency, sphingomyelin accumulation, HSM, cherry-red macula, foam cells.
  • Phenylketonuria (PKU): phenylalanine hydroxylase deficiency, Phe accumulation, MR, microcephaly, diet low in Phe!!! also in pregnancy, avoid aspartame, musty odor.
  • Polycystic Kidney Disease (children): ARPKD, rogressive & fatal renal failure, multiple enlarged cysts perpendicualr to renal capsule, association with liver cysts. Bilateral palpable mass.
  • Rotor Sd: direct hyperBbnemia, cMOAT deficiency, no black liver
  • SCID: ADA def. & rag-1, rag-2 def, bubble-boy
  • Shwaman Diamond Sd: exocrine pancreatic insufficiency (2°MCC in children after CF), bone marrow dysfunction, skeletal abnormalities, short stature.
  • Situs inversus: assoc w/ Kartagener sd
  • Sicke Cell Disease and Trait: Hb S, beta globin chain, chromosome 11, position 6, nucleotide codon change (glutamic acid --> valine), vaso-occlusive crisis (pain), autosplenectomy, acute chest pain sd, priapism, hand-foot sd, leg ulcers, aplastic crisis, drepanocytes & Howell-Jolly bodies, hemolytic anemia, jaundice, bone marrow hyperplasia
  • Tay-Sachs Disease: Hexoaminidase A deficiency, GM2 accumulation, cherry-red macula, onion skin lysosomes.
  • Thalasemia: alpha (chromosome 16, gene deletion), beta (chromosome 11, point mutation)
  • Werner Disease: adult progeria
  • Wilson’s Disease: Chromosome 13, WD gene, ATP7B gene (encondes for Copper transporting ATPase), copper accumulation in liver, brain (putamen), eyes (Descemet membrane - Kayser-Fleischer ring), decreased ceruloplasmin.
  • Xeroderma Pigmentosa: defective excision endonuclease, no repair of thymine dymers caused by UV radiation, excessive freckling, multiple skin cancers.

X-linked Recessive Diseases List

  • Alport’s Sd: "hereditary nephritis", type IV collagen deficiency, alternating thickening & thinning of GBM, COL4A5 mutation, hearing loss, ocular abnormalities (lens & cornea), hematuria (gross or micro) since childhood.
  • Bruton’s Agammaglobulinemia: btk gene defect, no mature B cells or plasma cells, low lymphoid tissue, hepatitis, enterovirus infxs, first 6 months protected by maternal ab (no symptoms)
  • Becker’s Muscular Dystrophy: altered dystrophin gene, later onset than Duchene's, slow progression, relatively normal life span, less severe, rare cardiac involvement.
  • Chronic Granulomatose Disease (CGD): NAPDH oxidase deficiency, recurrent catalase (+) infxs, nitroblue tetrazolium test negative (yellow)
  • Congenital Aqueductus Stenosis: MCC of congenital obstructive hydrocephalus.
  • Color blindness (red-green): can't distinguish shades of red and green (usually blue-green)
  • Duchene’s muscular Dystrophy: dystrophin gene mutation (Xp21), absent dystrophyn protein, MC & severe of muscular dystrophies, normal until 5yo, short life span (<30yo), progressive muscle weakness, calf pseudohypertrophy, <3 failure, arrythmias, respiratory insufficiency and infxs (decreased mucociliary clearence). Pneumonias CC of death.
  • Fabry’s Disease: alpha Galactosidase A, Ceramide trihexose accumulation, angiokeratomas, renal failure, peripheral neuropathy.
  • Glucose 6-P Dehydrogenase (G6PD) Deficiency: chronic hemolytic anemia, MCC of enzymatic deficiency HA, Heinz bodies, bite cells. Triggers are infections, drugs (antimalarial), fava beans
  • Hemophilia A & B: factor VIII & IX deficiency respectively. PTT prolongation.
  • Hunter Disease: iduronate sulfatase deficiency, heparan sulfate accumulation, no corneal clouding, aggressive behaviour.
  • Inherited Nephrogenic Diabetes Insipidus: V2 receptors in collecting duct don't respond to ADH.
  • Lesch-Nyhan Sd: HGPRT1 deficiency, spastic cerebral palsy, self-mutilation, hyperuricemia, oral crystals in diapers, early death.
  • Menkes Disease: ATP7A gene mutation (copper efflux protein), Cu+ is lysil oxidase cofactor, Cu+ accumulates in intestine & kidneys; deficient in other tissues = deficient collagen cross linking; steely 'kinky' hair, MR, arterial tortuosity, hypotonia.
  • Ornithine Transcarbamoylase Deficiency: urea cycle, orotic aciduria + hyperammonemia (no megaloblastic anemia), orotic acid accumulation, increased glutamine . Cerebral edema, lethargy, vomiting, hyperventilation, convulsions, coma, death.
  • SCID: IL-receptor, Gamma chain deficiency
  • Wiskott Aldrich Sd: combined partial B & T immunodeficiency, IgM deficiency, thrombocytopenia, eczema.

X-linked Dominant Diseases List

  • Alport’s Sd (most cases): "hereditary nephritis", type IV collagen deficit, mutation of COL4A5 ("colaas" - alpha-5 chain, type 4 collagen), hearing loss, ocular abnormalities (lens & cornea), hematuria since childhood (gross, micro)
  • Charcot Marie Tooth: loss of motor & sensory innervation, distal weakness & sensory loss, wasting in the legs, decreased deep tendon reflexes, tremor, foot deformity with a high arch is common (pes cavus), legs look like inverted champagne bottles. Most accurate test: electromyography. No tx.
  • Focal Dermal Hypoplasia: skin abnormalities and a wide variety of defects in eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems.
  • Fragile X Syndrome: CGG trinucleotid repeat, FMR 1 gene mutation, mental retardation, large ears and jaw, post-pubertal macro-orchidism (males), attention deficit disorder (females)
  • Hypophosphatemic rickets: infants may show growth retardation, widened joint spaces and flaring at the knees at age 1 (> boys), bowing of the weight-bearing long bones, young children-dentition absent or delayed, older children-multiple dental abscesses.
  • Incontinentia pigmenti: skin abnormalities (blister--> warts--> hyperpigmentation--> hypopigmentation), alopecia, hypodontia, cerebral atrophy, slow motor development, mental retardation, seizures, skeletal & structural anomalies. Letal >males.
  • Orofaciodigital Sd: OFD1 gene mutation, malformations of face, oral cavity, digits with polycystic kidney disease and variable involvement of the central nervous system.
  • RETT’s Sd: sporadic mutation of MECP2 gene, onset 2yo, acquired microcephaly, stopped development, motor & speech regression, autism-like behavior, self-mutilating behavior, inconsolable crying/screaming fits, emotional inversion, hypotonia, dystonia, chorea, bruxism, scholiosis, long QT
medical-mnemonics
medical-mnemonics:

It’s Medical Mnemonics Monday!
Renal Papillary Necrosis is a form of nephropathy characterized by coagulative necrosis of the renal medullary pyramids and papillae.  
Causes of Papillary Necrosis can be remembered by the mnemonic “POSTCARDS”.
P yelonephritis
O bstruction of the urogenital tract
S ickle cell disease
T uberculosis
Chronic liver disease,
A nalgesia /A lcohol abuse,
R enal transplant rejection
D iabetes mellitus
S ystemic vasculitis
Check out the list of the previous Medical Mnemonics here.

medical-mnemonics:

It’s Medical Mnemonics Monday!

Renal Papillary Necrosis is a form of nephropathy characterized by coagulative necrosis of the renal medullary pyramids and papillae.  

Causes of Papillary Necrosis can be remembered by the mnemonic “POSTCARDS”.

  • yelonephritis
  • bstruction of the urogenital tract
  • ickle cell disease
  • uberculosis
  • Chronic liver disease,
  • nalgesia /lcohol abuse,
  • enal transplant rejection
  • iabetes mellitus
  • ystemic vasculitis

Check out the list of the previous Medical Mnemonics here.