research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
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research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Correlation of clinical and biochemical hyperandrogenism in Thai women with polycystic ovary syndrome
Blood tests are needed to confirm high male hormone levels in women with PCOS, as physical signs alone are not reliable.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research A case of severe hyperandrogenism, acanthosis nigricans and overt diabetes: the use of non-invasive methods for diagnosis, pathogenesis and management
Non-invasive imaging helped diagnose a woman's severe hormone imbalance and diabetes, and medication successfully treated her condition.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Serum granulysin as a possible key marker of the activity of alopecia areata
Serum granulysin levels can indicate the activity and prognosis of alopecia areata.
research SAT-LB2 Elevated Testosterone Secondary to Leydig Cell Hyperplasia in Bilateral Ovaries
A woman's high testosterone and related symptoms were caused by overactive cells in her ovaries.
research Celiac Disease and Treatment of Hypothyroidism: An Unappreciated Problem
Celiac disease can cause thyroid medication malabsorption, and a gluten-free diet can help stabilize thyroid levels.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Measurement of tamsulosin in human serum by liquid chromatography–tandem mass spectrometry
A reliable method was created to measure tamsulosin in human blood.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research An investigation into the action of transglutaminase on human hair
Transglutaminase does not modify human hair.
research Inhibition of autophagy-lysosomal function exacerbates microglial and monocyte lipid metabolism reprograming and dysfunction after brain injury
Blocking autophagy worsens lipid buildup and dysfunction in brain cells after injury.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Disrupted Pancreatic Exocrine Differentiation and Malabsorption in Response to Chronic Elevated Systemic Glucocorticoid
High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
research Clinical and hepatic evaluation in adult dengue patients: a prospective two-month cohort study
Dengue symptoms and liver issues can persist for over two months, especially in men.
research Hyperammonemia with Valproic Acid: Colonic Ischemia Associated with “Triptan” Use Visual Side Effects with Pegylated Interferon: Alopecia Areata with Infliximab: Adverse Effects Seen with Medications Used for Irritable Bowel Syndrome
Certain medications can cause serious side effects, so it's important to report them.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research The eosinophilia-myalgia syndrome
Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.
research Hyperandrogenemia
research Immune-mediated Coombs negative intravascular haemolysis in systemic lupus erythematosus (SLE)
A woman with lupus had blood cell destruction, treated successfully with medication.
research Low Free Thyroxine (FT4) in critically ill juvenile systemic lupus erythematosus: a diagnostic approach
Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
research Painful, Unexplained Peripheral Neuropathy? Think Thallium Toxicity
If someone has unexplained nerve pain and hair loss, doctors should check for thallium poisoning.
research TRANSMEDCON 2022: E-Poster Abstracts
Platelet-rich plasma helps treat hair loss, and better screening improves transfusion safety.
research Familial hypertriglyceridemia in pregnancy
HIV-positive pregnant women are more likely to experience severe bleeding, and a pregnant woman with familial hypertriglyceridemia had a successful early delivery with special care.
research Delayed-Onset Hemolytic Anemia in Patients with Travel-Associated Severe Malaria Treated with Artesunate, France, 2011–2013
Artesunate is generally safe for severe malaria, but patients should be monitored for delayed anemia after treatment.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.