research Dermato-trichologist and acquired immuno-deficiency syndrome
Hair changes are common in AIDS patients and can add to their financial and emotional stress.
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810-840 / 1000+ results research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research Table 1_Integrated single-cell chromatin and transcriptomic analyses of peripheral immune cells in patients with alopecia areata.docx
Alopecia areata involves immune system changes, especially in severe cases, with potential new treatment targets identified.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research The assessment of knowledge and awareness about iron deficiency anemia among the population of Riyadh province
More awareness and education on iron deficiency anemia are needed in Riyadh.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Sodium selenate as a disease-modifying treatment for mild–moderate Alzheimer’s disease: an open-label extension study
Sodium selenate was found to be safe and possibly slows Alzheimer's progression, but more research is needed.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Treatment of Serum Ferritin Deficiency Regardless Haemoglobin Level
Raising serum ferritin levels can improve symptoms like fatigue and hair loss, even if hemoglobin levels are normal.
research Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse
Copper therapy improved health and enzyme activity in mice with copper deficiency.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Evaluation of some biochemical markers in alopecia areata
People with alopecia areata have different blood markers that suggest inflammation and immune system issues compared to healthy individuals.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Clinical picture, diagnosis, treatment and outcome of severe acute respiratory syndrome (SARS) in children
Children generally have milder SARS symptoms than adults, with good outcomes and no deaths reported, but long-term effects are unclear.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research The Clinical Features and Outcomes of Systemic Lupus Erythematosus in Ageing Patients
SLE in ageing patients is less severe and needs careful treatment to avoid excess.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research ACE2 and TMPRSS2 Potential Involvement in Genetic Susceptibility to SARS-COV-2 in Cancer Patients
Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
research Diabetes mellitus and necrotizing fasciitis – a deadly combination; case report
Diabetes and necrotizing fasciitis together can be deadly.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research The impact of human immunodeficiency virus-related diseases on pigmented skin types
HIV can cause skin disorders, which are often the first sign of infection, especially in people with darker skin.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.