research Parkinsonism with a bovine cough: an unusual presentation.
Sodium valproate can cause low platelets and hair loss.
Search
for
Sort by
Research
300-330 / 1000+ resultsresearch SAT-724 Persistently Elevated Alkaline Phosphatase in an Older Woman with a History of Breast Cancer
Stopping Viviscal, a hair loss product, normalized the woman's elevated alkaline phosphatase levels.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research SALICYLATE INGESTION AND IDIOPATHIC HAIR LOSS
Avoiding aspirin may prevent hair loss.
research Beau lines and telogen effluvium following aluminium phosphide poisoning.
Aluminum phosphide poisoning can cause horizontal nail grooves and hair loss.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research 313 Different polyamine levels in the vertex and occipital hair of pattern hair loss patients
People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
research CANITIES AND ALOPECIA IN CHILDREN ASSOCIATED WITH AVITAMINOSIS
Severe vitamin deficiencies in children can cause significant hair problems.
research Prevalence of hyperprolactinaemia in female premenopausal blood donors
A small number of premenopausal female blood donors had high prolactin levels, often due to stress, and retesting is recommended to prevent misdiagnosis.
research A Very Rare Reason for Hyperandrogenism: Adrenal Tumor Case
A young woman had a rare tumor causing high male hormone levels and symptoms like excessive hair and acne. After removing the tumor, her hormone levels returned to normal. Early diagnosis is important.
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 Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Anthelminthic drugs
Some people have severe allergic reactions to anthelminthic drugs, but these are often due to the parasites, not the drugs.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research SAT-467 A Case of Pituitary Hyperplasia Secondary to Uncontrolled Primary Hypothyroidism
Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.
research Post-Fundoplication Late Dumping Syndrome in an Adult Diagnosed by Provocative Modified Oral Glucose Tolerance Test
Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Rare Challenges in Diagnosing Cushing’s Syndrome and Primary Aldosteronism: A Case Report of a Female With a Negative Workup
The case shows the difficulty in diagnosing certain conditions when standard tests are negative.
research 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 Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.