research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 1 approved]
Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research OP-043 Quality of Life After Endovascular Repair Versus Open Surgery for Abdominal Aortic Aneurysms
Endovascular repair and open surgery for abdominal aortic aneurysms both result in a temporary decline in physical health, with no significant mental health difference, and a return to near normal health in 90 days.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Skin diseases in Turkish renal transplant recipients
Most kidney transplant patients in the study had skin problems, often related to infections, medication side effects, or skin cancer risks.
research Study of Cutaneous Manifestations in End Stage Kidney Disease Undergoing Hemodialysis
Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Exploring the Potential Routine Use of Electronic Healthcare Record Data to Strengthen Early Signal Assessment in UK Medicines Regulation: Proof-of-Concept Study
Using electronic health records can help identify drug side effects but has some limitations.
research Case Report: Triple autoimmune overlap: rheumatoid arthritis, systemic lupus erythematosus, and hypereosinophilic asthma with systemic manifestations
Timely treatment of eosinophilic asthma in rheumatic disease patients can prevent organ damage.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Multisystemic eosinophilic epitheliotropic disease in a horse
The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Tamoxifen-induced androgenetic alopecia in a dialysis patient with sclerosing encapsulating peritonitis (SEP)
research Erosive pustular dermatosis of the scalp: causes and treatments
A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research 724 - A phase 2b, randomized, double-blinded, parallel-group, placebo-controlled study to evaluate the efficacy and safety of rezpegaldesleukin in adults with severe to very-severe alopecia areata
Rezpegaldesleukin shows promise for treating severe alopecia areata.
research Most frequent dermatosis in patients with kidney transplantation
Kidney transplant patients often have skin issues, mainly infections.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research Erosive pustular dermatosis of the scalp after contact dermatitis from a prosthetic hair piece
A woman's scalp condition improved with specific ointment after a hair piece caused skin issues.
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 Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 2 approved]
Digital gangrene can be an unusual first sign of late-onset lupus.
research Wanita dengan Sindrom Rupus : Lupus Eritematosus Sistemik dan Artritis Reumatoid
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
research Erosive pustular dermatosis of the scalp from topical minoxidil 5% solution
A woman developed a scalp condition from using minoxidil, which improved with a different treatment but left scarring.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.