research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
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300-330 / 1000+ resultsresearch Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Ethanol‐induced elevation of 3α‐hydroxy‐5α‐pregnan‐20‐one does not modulate motor incoordination in rats
Ethanol-induced motor incoordination in rats is not affected by increased neuroactive steroids.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research The neurosteroid environment in the hippocampus exerts bi-directional effects on seizure susceptibility in mice
Neurosteroids in the brain can increase or decrease seizure risk in mice.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Addisonian crisis in a young man with atypical anorexia nervosa
A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
research ABSTRACTS—SYMPOSIA
Certain drugs can block changes in brain receptors caused by alcohol withdrawal.
research Medical complications of anorexia nervosa and bulimia nervosa
Anorexia and bulimia lead to serious health problems and increased risk of death, requiring aggressive treatment.
research Assessment of ameliorative potential of Aegle marmelos fruit extract against hematological and biochemical alterations in sub-acute arsenic toxicity in mice
Aegle marmelos fruit extract can protect against arsenic toxicity in mice.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
research Enanthem in Patients With COVID-19 and Skin Rash
Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
research Neuroactive Steroids and Ethanol Exposure: Relevance to Ethanol Sensitivity and Alcohol Use Disorders Risk
Neuroactive steroids may affect the risk and treatment of alcohol use disorders.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
research Clinical, pathological, and molecular features of classical and L-type atypical-BSE in goats
Both classical and L-type atypical BSE from cattle can infect goats with different incubation times, and tests can distinguish between the two strains.
research Hepatic and dermatologic manifestations of chronic hypervitaminosis A in adults. Report of two cases
Too much vitamin A can cause liver damage and skin issues.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Drug-induced Telogen Effluvium in a Pediatric Patient due to Error of Transcription.
A girl lost her hair due to being given the wrong medication because of a pharmacy's computer error.
research Clinical Quiz
The toddler's health issues were caused by too much vitamin A from supplements.
research Thallium poisoning: Clinical observations through two outbreaks in Basrah
Thallium poisoning can cause hair loss, skin rashes, and nerve damage, and can be fatal if not correctly diagnosed and treated.
research Aberrant amino acid metabolism promotes neurovascular reactivity in rosacea
Abnormal amino acid metabolism may worsen rosacea symptoms.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research [Adverse effects of valproic acid in epileptic infants and adolescents].
Valproic acid can cause mild side effects like anorexia and hair loss in some epileptic patients.
research Severe adverse reaction induced by albendazole and praziquantel for cystic echinococcosis
Albendazole and praziquantel can cause severe side effects, especially with prolonged use or liver issues.
research Current evaluation of amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.