research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
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240-270 / 1000+ resultsresearch Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Radiographic Findings of Shoulder Involvement in Ankylosing Spondylitis
The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Alopecia areata after HLA-identical BMT from an affected, sibling donor
Alopecia areata can be transferred through stem cell transplants from affected siblings.
research Case Report: Rare aplastic anemia in pediatric systemic lupus erythematosus: a case series and systematic literature review
Early detection and infection prevention are crucial for improving survival in pediatric lupus patients with aplastic anemia.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Delayed-Onset Hemolytic Anemia in Patients with Travel-Associated Severe Malaria Treated with Artesunate, France, 2011–2013
Artesunate is generally safe for severe malaria, but patients should be monitored for delayed anemia after treatment.
research SCURVY PRESENTING WITH CUTANEOUS AND ARTICULAR SIGNS AND DECREASE IN RED AND WHITE BLOOD CELLS
Vitamin C is essential to prevent scurvy and its symptoms.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Acquired silky African hair, malnutrition, and chronic diseases
research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
research Treatment and Long-Term Outcome of COVID-19 Disease in Children with Inborn Errors of Immunity (IEI): Does Hematopoietic Stem Cell Transplantation (HSCT) Have a Protective Effect?
Hematopoietic stem cell transplantation does not significantly affect COVID-19 severity in children with immune disorders.
research An Outbreak of Alopecia in Newborn Piglets
Iodine deficiency in sows likely caused hair loss in newborn piglets.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Short Anagen Syndrome
Short anagen syndrome causes short hair that may grow longer after puberty.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
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 Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.