research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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research Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors
Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
research Phytochemicals in the Management of Polycystic Ovary Syndrome, Endometriosis, and Menstrual Irregularities
Plant compounds may help manage PCOS, endometriosis, and menstrual issues.
research The role of vitamin D3 deficiency in the etiopathogenesis of autoimmune thyroid diseases
Low vitamin D3 is not linked to different levels of thyroid hormones in people with autoimmune thyroid disease.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research THE OCCURRENCE OF DISCOID LUPUS ERYTHROMATOSUS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS, WITH OVERLAPPING ANCA-ASSOCIATED VASCULITIS, AND RHEUMATOID ARTHRITIS PRESENTING AS PAPULAR-PURPURIC GLOVE AND SOCK SYNDROME
A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
research LUNG IS A BATTLEFIELD: DIFFUSE ALVEOLAR HEMORRHAGE IN ANTIPHOSPHOLIPID SYNDROME
Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
research THERAPEUTIC CHALLENGES IN POLYAUTOIMMUNITY: ANIFROLUMAB FOR LUPUS ERYTHEMATODES IN OVERLAPPING AUTOIMMUNE SYNDROMES
Anifrolumab may help improve symptoms in patients with overlapping autoimmune diseases.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome
The document concludes that sexual and psychiatric side effects from 5-alpha-reductase inhibitors are reported, but more high-quality research is needed to understand how often they occur.
research Pre-Clinical Cell-Based Therapy for Limbal Stem Cell Deficiency
Cell-based therapies show promise for treating Limbal Stem Cell Deficiency but need more research.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research Signaling pathways and targeted therapeutic strategies for polycystic ovary syndrome
Effective PCOS treatments require targeting specific signaling pathways.
research COMPARATIVE ANALYSIS OF MAJOR AND TRACE ELEMENT CONTENT IN THE HAIR OF CHILDREN WITH DOWN SYNDROME AND OBESITY
Hair analysis may help monitor health in children with Down syndrome and obesity.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research C19and C215β/5αMetabolite Ratios in Subjects Treated with the 5α-Reductase Inhibitor Finasteride: Comparison of Male Pseudohermaphrodites with Inherited 5α-Reductase Deficiency*
Finasteride may treat baldness but less effective for those with 5α-reductase deficiency.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Mechanisms of Disease: selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome
Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
research ALTERAÇÕES FACIAIS DECORRENTES DO TRATAMENTO DA MÁ OCLUSÃO DE CLASSE III, COM DEFICIÊNCIA DE MAXILA, EMPREGANDO DISJUNÇÃO MAXILAR E TRAÇÃO REVERSA
The treatment improved facial structure and corrected bite issues in patients.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Effect of Vitamin D Supplementation on Ovulation Induction Among Women with Poly Cystic Ovary Syndrome
Taking Vitamin D with clomiphene citrate significantly improves ovulation in women with Poly Cystic Ovary Syndrome.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research The evaluation and management of hirsutism*1
Most women with excess hair growth have an underlying hormonal issue, often treated with medication and hair removal methods.
research Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male
The document explains how the male reproductive system works, its role in making testosterone, and how conditions like obesity can disrupt it, leading to low testosterone and fertility issues.