research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
Search
for
Sort by
Research
660-690 / 1000+ results research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Thyroxin Levels and Haematological changes in Dogs with Sarcoptic Mange
Dogs with sarcoptic mange may have altered thyroid function and blood changes.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research MCMV Infection Lowers the Threshold for the Development of Clinical GvHD after Allogeneic Bone Marrow Transplantation.
CMV infection increases the risk of GvHD after bone marrow transplants.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Unusual symptoms of iron deficiency anemia (2 clinical observations)
Early iron deficiency can lead to anemia during puberty, so it's important to address it early.
research 675 Hair loss in hephaestin knockout mice is associated with iron deficiency
Iron deficiency causes hair loss by affecting hair differentiation and cycling.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Clinical perspective on management of key adverse events with sacituzumab govitecan
Effective management of side effects is crucial for safe use of sacituzumab govitecan in advanced breast cancer treatment.
research Clinical and Neuropathogenetic Aspects of Human African Trypanosomiasis
The document concludes that diagnosing and treating Human African Trypanosomiasis is challenging, but new treatments like fexinidazole are promising.
research Severe Acute Respiratory Syndrome Among Children
Children, especially teenagers, can get severe SARS-CoV infection with symptoms similar to adults, but they typically recover well with supportive care.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Long‐Term Management with Adipose Tissue‐Derived Mesenchymal Stem Cells and Conventional Treatment in a Dog with Hepatocutaneous Syndrome
Combining amino acid and stem cell therapy may help manage hepatocutaneous syndrome in dogs.
research SARCOPTES SCABIEI INFECTION ACCOMPANIED BY HYPOCHROMIC MICROCYTIC ANEMIA IN A DOMESTIC DOG
A dog named Boby recovered from a skin infection and anemia after treatment, highlighting the need for pet cleanliness.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research A systematic study on the elevated risk of ankylosing spondylitis in adolescents engaged in intense physical exercise
Intense exercise may increase the risk of ankylosing spondylitis in genetically predisposed adolescents.
research CUTANEOUS MANIFESTATIONS OF HIV-INFECTION IN RELATION WITH CD4 CELL COUNTS IN HADOTI REGION
Low CD4 counts in HIV patients are linked to more skin disorders.
research Extensive scleredema adultorum with loss of eccrine glands
A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Systemic-Onset Juvenile Idiopathic Arthritis with unusual Cutaneous Manifestation and peripheral eosinophilia: Case Report
Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Impact of Iron Deficiency on the Individual
Iron deficiency can cause hair loss and often signals underlying health issues.
research Fetal Arrhythmia with a Myriad of Complications
Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.