research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
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research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Increased proliferation of epidermal gamma delta T cells and expression of the transmembrane protein, BST2, in Alopecia areata
BST2 protein and certain T cells increase in early alopecia areata.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research Androgen excess disorders remain undiagnosed in one of every four premenopausal women with Type 1 diabetes
25% of premenopausal women with Type 1 diabetes have undiagnosed androgen excess disorders.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Screening guidelines for thyroid function in children with alopecia areata
Children with alopecia areata should only get thyroid screening if they have Down syndrome, a family history of thyroid disease, atopy, or signs of thyroid problems.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Commensal Microbes and Hair Follicle Morphogenesis Coordinately Drive Treg Migration into Neonatal Skin
Hair follicle development and microbes help regulatory T cells gather in newborn skin.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Thymosin Beta-4 Induces Mouse Hair Growth
Thymosin beta-4 promotes hair growth in mice.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Primary hypothyroidism presenting as pituitary failure.
Primary hypothyroidism can mimic pituitary failure but improves with hormone therapy.
research G588(P) Transient renal and hepatic dysfunction in severe profound hypothyroidism
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.
research Primary thyroid tuberculosis: a rare hypothyroidism etiology
Thyroid tuberculosis can cause hypothyroidism and should be considered when diagnosing cervical masses.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Low Free Thyroxine (FT4) in critically ill juvenile systemic lupus erythematosus: a diagnostic approach
Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research IMPORTANCE OF ISOLATED GESTATIONAL HYPOTHYROXINEMIA IN THE DEVELOPMENT OF OBSTETRIC AND SOMATIC PATHOLOGIES.
Pregnant women with isolated hypothyroxinemia face more health issues, so iodine and folic acid supplements are important before and during early pregnancy.
research Cutaneous changes in hypothyroidism
Skin can become dry and thick in hypothyroidism.
research Exfoliative dermatitis in a cat
A cat had a rare skin disorder with hair loss and scaling, linked to a suspected tumor.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Role of thymosin beta 4 in hair growth
Thymosin beta 4 may help hair growth and could be a treatment for hair issues.