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.
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180-210 / 1000+ results research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Development of Autoimmune Hair Loss Disease Alopecia Areata Is Associated with Cardiac Dysfunction in C3H/HeJ Mice
Mice with autoimmune hair loss showed signs of heart problems.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research The Rare Occurrence of a Left Atrial Thrombus in a Dog
A dog with a rare heart clot died despite treatment, highlighting the need for better clot treatments in dogs.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Laboratory and clinical haemostatic aberrations in primary dermatologic disease: A review
Skin diseases like alopecia areata and psoriasis may be linked to blood clotting issues and heart problems.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Association Between Alopecia Areata and High‐Sensitivity Cardiac Troponin T as a Marker of Subclinical Myocardial Injury
Alopecia areata may be linked to higher heart disease risk.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Comorbidities in Androgenetic Alopecia: A Comprehensive Review
Androgenetic alopecia is linked to heart disease, metabolic issues, and mental health problems.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Subclinical Atherosclerosis in Alopecia Areata: Usefulness of Arterial Ultrasound for Disease Diagnosis and Analysis of Its Relationship with Cardiometabolic Parameters
Alopecia areata patients have a higher risk of subclinical atherosclerosis, and carotid ultrasound can help assess their cardiovascular risk.
research Comorbidities in patients with androgenetic alopecia: cardiovascular risk factors and benign prostatic hyperplasia
People with early-onset hair loss (AGA) have a higher risk of heart disease, metabolic syndrome, and prostate enlargement.
research 463 Comorbid conditions associated with alopecia areata: A systematic review and update
People with Alopecia Areata are more likely to have certain health issues like ulcerative colitis and type 1 diabetes, but less likely to have others like hypertension and type 2 diabetes.
research RELATİONSHİP BETWEEN ANDROGENETİC ALOPECİA AND CARDİOVASCULAR COMORBİDİTY MARKERS İN WOMEN
Women with hair loss may have higher heart disease risk.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research O-11 DIAGNOSTIC CHALLENGES IN POSTMENOPAUSAL HYPERANDROGENISM: REPORTS OF TWO CASES
Benign conditions can mimic serious ones in postmenopausal hyperandrogenism, requiring careful diagnosis.
research Suety and Spreading-Stromal Hyperplasia and Hyperthecosis Ovary
These ovarian conditions cause high testosterone levels.
research Cardiovascular risk factors and co-morbidities in patients with Alopecia Areata: A case-control study
People with Alopecia Areata have a higher risk of heart-related health issues.
research Multiple follicular abnormalities in a 1‐year old cat consistent with basaloid follicular hamartomas
A one-year-old cat had multiple benign skin tumors similar to those known in humans.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.