research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
Search
for
Sort by
Research
570-600 / 1000+ results research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
research Transient perforating folliculitis induced by sorafenib
Sorafenib can cause a temporary skin condition that goes away after stopping the drug.
research #6180 OXALATE NEPHROPATHY SECONDARY TO ENTERIC HYPEROXALURIA: A RARE CAUSE OF END STAGE RENAL FAILURE – A REPORT OF 2 CASES
Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Tamoxifen-induced androgenetic alopecia in a dialysis patient with sclerosing encapsulating peritonitis (SEP)
research Tumid Lupus Erythematosus and Systemic Lupus Erythematosus: A Report on Their Rare Coexistence
A woman with both TLE and SLE improved with hydroxychloroquine treatment.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Hair Coil Penile Tourniquet Syndrome in an Unusual Age
An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Temporal Triangular Alopecia – A Diagnostic Dilemma: Case Series of Six Patients
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research Gonadal dysgenesis and bone metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research 133 A young girl with lupus, recurrent pericardial effusion and cardiac tamponade
Adding colchicine stopped the girl's recurring heart issues caused by lupus.
research A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Polyglandular Autoimmune Syndrome Type 3D : A Case Report
Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research P07 Pityriasis amiantacea: a unique presentation of psoriasis associated with tumour necrosis factor-α inhibitor therapy
A woman's rare scalp condition worsened after using a specific arthritis medication, suggesting such medications can sometimes trigger or aggravate psoriasis.
research An unusual case report of rapunzel syndrome trichobezoar in a 3-year-old boy
A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
research HAIR REGROWTH
Finasteride and minoxidil are effective for hair regrowth, while treatments for alopecia areata have varying success and continuous treatment is necessary.