research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
Search
for
Sort by
Research
360-390 / 1000+ results research Parathyroid Hormone-related Protein in Normal and Neoplastic Canine Tissues: Immunohistochemical Localization and Biochemical Extraction
PTHrP is higher in certain dog tumors and may act as a local growth factor.
research Case Report: Hypopituitarism Masquerading As Failure to Thrive in a 75‐Year‐Old Woman
Elderly patients with frailty should be checked for hypopituitarism, as treatment can greatly improve their health and lifespan.
research Mucin‐poor follicular mycosis fungoides
The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
research Follicular dystrophy of immunosuppression
Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research A case of multifocal acquired demyelinating sensory and motor neuropathy with whole body alopecia
Immunological treatment improved both neuropathy and alopecia.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Skin signs in the diagnosis of thallium poisoning
Thallium poisoning can cause severe neurological symptoms and hair loss.
research The genetic link between thyroid dysfunction and alopecia areata: a bidirectional two-sample Mendelian randomization study
Thyroid issues can cause alopecia areata.
research Association between Alopecia Areata and Thyroid Dysfunction
People with Alopecia Areata often have thyroid problems like Hashimoto thyroiditis and hypothyroidism.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Concurrent autoimmune and endocrine dysregulation in polycystic ovary syndrome
Autoimmune markers may help diagnose and manage PCOS.
research Associated Variables of Myositis in Systemic Lupus Erythematosus: A Cross-Sectional Study
Myositis in lupus patients is linked to skin rash, hair loss, blood issues, and high disease activity.
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 Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia
Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research A CASE-CONTROL STUDY TO ASSESS THE ASSOCIATION OF ALOPECIA AREATA WITH THYROID DYSFUNCTION AND THYROID AUTOIMMUNITY
People with alopecia areata are more likely to have thyroid autoimmunity, but not thyroid disease.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.