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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research Lupus-Associated Knee Pain: An Atypical Presentation of Systemic Lupus Erythematosus in a Young Male
SLE can occur in young males and cause knee pain.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Dietary methionine supplementation to a low-protein diet improved hair follicle development of Angora rabbits
Adding methionine to a low-protein diet helps Angora rabbits grow better fur.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research An inherited nail dystrophy principally affecting the great toenails
The document concludes that an inherited nail condition often improves on its own, and spironolactone effectively treats acne in women.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research Expression of the guinea-pig alpha-lactalbumin gene in transgenic mice
The guinea pig α-lactalbumin gene was successfully expressed in the mammary glands of transgenic mice.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Doctor, my armpit hair has turned yellow! Malodorous yellowish axillary hair in an adolescent patient
A 15-year-old boy's smelly, yellow armpit hair improved with clindamycin treatment.
research A case of atopic dermatitis with alopecia universalis in a patient treated with abrocitinib
Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research IMMUNOLOGICAL AND SOME BIOLOGICAL BIOMARKERS INVESTIGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
No single biomarker is reliable enough for diagnosing and assessing SLE.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Hair That Is Difficult to Manage in a Hispanic Girl
A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.