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.
Search
for
Sort by
Research
300-330 / 1000+ results
research HLA-B27 Antigen in Women With Ankylosing Spondylitis
Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
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 Efficacy and safety of autologous hematopoietic stem cell transplantation in treating type 1 diabetes mellitus
AHST shows promise for treating type 1 diabetes but needs more research before widespread use.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Minigraft Preparation in Surgical Hair Replacement
A new technique using a multibladed knife makes preparing hair transplant minigrafts faster and more uniform, leading to natural-looking results.
research Segmented Heterochromia in Black Scalp Hair Associated With Iron-Deficiency Anemia
Iron deficiency can cause hair color changes, which can be reversed with iron supplements.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Assessment of Anemia Symptoms in People with Normal Hemoglobin and Low Ferritin
People with normal hemoglobin but low ferritin experience more fatigue and certain symptoms like restless leg syndrome and dizziness.
research Anemia na COVID longa: características e correlações clínicas
Long COVID can cause anemia and iron issues, leading to fatigue and slow recovery, especially in men and severe cases.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Scurvy masquerading as leukocytoclastic vasculitis: a case report and review of the literature.
Scurvy, caused by lack of vitamin C, can be mistaken for other conditions but improves with vitamin C supplements.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Scorbut atypique associé à une anorexie mentale
A woman with anorexia improved significantly after being treated for scurvy with vitamin C, despite not showing typical scurvy symptoms.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research An HIV-Infected Man with Odynophagia and Rash
The man's symptoms improved after treating his scurvy with high-dose vitamin C.
research Systemic lupus erythematosus in a 20-year-old woman: a case report
Accurate ANA testing is crucial for early lupus diagnosis and treatment.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome
A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
research G42 Long term safety and efficacy of single dose parenteral iron in children with inflammatory bowel disease in a large tertiary centre
Single-dose parenteral iron is safe and effective for children with inflammatory bowel disease and iron-deficiency anemia.
research Effect of iron-deficiency anemia on the outcomes of pregnancy, labor, and newborn health
Iron-deficiency anemia in pregnancy can cause serious health issues for both mother and baby.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Perifollicular haemorrhage with corkscrew hair due to scurvy
Scurvy can cause skin issues and is treatable with vitamin C.
research Androgenetic Alopecia: A Chronic or Pubertal Onset Disease Retarded by Blood Donation
Androgenetic alopecia is a long-term, immune-related disorder that starts during puberty due to androgen secretion, and it might be improved with iron tablets, platelet transfusion, and anti-inflammation therapy.
research AB0163 ANTI-KU ANTIBODIES: MUCH MORE THAN SCLEROMYOSITIS
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
research Diseases that turn African hair silky
Certain diseases like AIDS and lupus can make African hair become silky.
research Polycystic ovary syndrome, medical semantics, and the political ecology of health in India
PCOS in India is linked to broader sociocultural and environmental changes, not just diet and exercise.