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.
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840-870 / 1000+ results research An HIV-Infected Man with Odynophagia and Rash
The man's symptoms improved after treating his scurvy with high-dose vitamin C.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Single Anastomosis Gastro Ileal Bypass with Pyloric and Gastric Plication (SAGI PGP): A New Innovative Bariatric Operation
The new bariatric surgery SAGI PGP is effective for weight loss and diabetes control with few complications.
research Sickle Cell Disease Complications and BMI Percentiles of Pediatric Patients
Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.
research The abnormal skin structure of newly born Wistar rat maternally-treated with aspartame: histological and immunohistochemical study
Maternal aspartame consumption during pregnancy leads to skin damage and higher apoptosis in newborn rat offspring.
research Dermatoses in overweight and obese children and their relationship with insulin and skin color
Being overweight can cause or worsen skin problems in children, some more common in darker skin, and is often linked to insulin resistance.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Glibenclamide reverses cromakalim-induced anti-ischemic effect in conscious rabbits
research Remission of Alopecia Universalis Following Successful Clinical Islet Transplantation
Hair regrowth in alopecia universalis may be possible by altering immune cells.
research Sodium Metabisulfite: Effects on Ionic Currents and Excitotoxicity
Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Advances in oligosaccharides production from brown seaweeds: extraction, characterization, antimetabolic syndrome, and other potential applications
Brown seaweed oligosaccharides have health benefits and potential uses in food and medicine.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research The impact of type 2 diabetes on polycystic ovary syndrome in patients undergoing sleeve gastrectomy
Women with both type 2 diabetes and PCOS have worse metabolic issues but milder reproductive symptoms after sleeve gastrectomy.
research A Rare Case of Orthokeratotic Hyperkeratosis in a Kid Induced by Malassezial Dermatitis
A young goat with skin issues improved with medication and supplements.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Alopecia areata universalis nach Sitagliptin-Einnahme
A patient's hair loss may be linked to their diabetes medication, Sitagliptin.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research Atypical folliculitis caused by Malassezia spp. in immunosuppressed patients
Some immunosuppressed patients can get unusual skin infections from Malassezia, which can be treated with antifungal medication.
research An occurrence of eosinophilic folliculitis and alopecia associated with a sustained complete response to mogamulizumab in Sézary syndrome: a case report
Mogamulizumab treatment in Sézary syndrome may cause skin issues and hair loss but can lead to a complete response.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research What Are the Micronutrient Deficiencies Responsible for the Most Common Nutritional Symptoms After Bariatric Surgery?
Hair loss after bariatric surgery is often due to iron and protein deficiencies.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Acute oral toxicity and phytochemistry of Catharanthus roseus and Schwenckia americana used as antidiabetic plants in Southern Benin
Catharanthus roseus and Schwenckia americana extracts are generally safe but may cause kidney and liver tissue damage.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.