research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
Search
for
Sort by
Research
960-990 / 1000+ results research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research 1048 Treatment of nodulocystic acne with once weekly finasteride: A pilot study
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research An Occult Leydig Cell Tumour in a Postmenopausal Woman Presenting with Alopecia and Hirsutism: A Case Report
Surgery removed an ovarian tumor, improving her symptoms and normalizing testosterone levels.
research Absence of Prostatic Growth in Large Cohort of Adult Female Patients with Congenital Adrenal Hyperplasia
Women with congenital adrenal hyperplasia showed no prostatic growth.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Eczacılıkta Güncel Araştırmalar
More research is needed to confirm the potential of various treatments, including Helichrysum plicatum, vitamins, bromelain, personalized medications, hydrogels, and bacteriophage therapy.
research Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
research Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research UNCONVENTIONAL PROTEIN SECRETION OF KERATIN 75 BY AMELOBLASTS IN VIVO
Keratin-75 is secreted by ameloblasts in a unique way without a signal peptide.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research This Month in Clinical Urology
New treatments and diagnostic methods for urological conditions show promise, but some lack sufficient accuracy for clinical use.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research Characterizing clinical and hormonal profiles of acne in north African women with polycystic ovary syndrome
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Synergistic Potential of Ecklonia cava and Oral Contraceptives inManaging Polycystic Ovary Syndrome: Clinical and BiochemicalEvaluation
Ecklonia cava improves the effectiveness of Diane-35 in managing PCOS symptoms.
research Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Comprehensive treatment of Cronkhite-Canada syndrome: A case report and literature review
Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research [Clinical findings with a low-dosed antiandrogene (cyproteronacetate) and aethinyloestradiol women with virilising symptoms (author's transl)].
The treatment improved acne, seborrhoea, and hirsutism, with some side effects like spotting and nervousness.
research A97 TACROLIMUS-ASSOCIATED HEMOLYTIC UREMIC SYNDROME IN A PEDIATRIC LIVER TRANSPLANT RECIPIENT
An 8-year-old boy developed a rare condition after a liver transplant, which improved after changing his medication.
research Association Between Chlamydia trachomatis and Helicobacter pylori with Inflammation in Polycystic Ovary Syndrome: A Cross-Sectional Study
PCOS is linked to chronic low-grade inflammation, but the role of certain infections is unclear.
research GRANULOSA‐THECA CELL TUMOR IN A ONE‐YEAR‐OLD INFANT
A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.