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60-90 / 1000+ resultsresearch Expanding the Phenotypic Spectrum of Olmsted Syndrome
This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
research Therapeutic indications and other use-case-driven updates in the drug ontology: anti-malarials, anti-hypertensives, opioid analgesics, and a large term request
This study expands the Drug Ontology to include therapeutic indications for resistant hypertension, malaria, and opioid abuse research, providing a framework for additional drug use representations beyond their original design.
research Postural orthostatic tachycardia syndrome: a dermatologic perspective and successful treatment with losartan.
This case report details a woman with postural orthostatic tachycardia syndrome who experienced notable dermatological symptoms, including evanescent hyperemia, which improved with the use of an oral angiotensin II type 1 receptor antagonist.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
research Prospective Observational Study of a Non-Arthroscopic Autologous Cartilage Micrografting Technology for Knee Osteoarthritis
This study found that autologous micrografts using AMT® technology effectively improved symptoms and mobility in patients with early-stage knee osteoarthritis, demonstrating safety and potential benefits at 1- and 6-months post-procedure.
research Polymorphisms of OCT1 and metformin effects in Iraqi women with polycystic ovary syndrome in Karbala city
This study found that Iraqi women with PCOS who carry the reference wild type alleles of OCT1 had a significant hormonal and metabolic response to metformin, unlike those with mutant alleles.
research Efficacy and safety of ozenoxacin 1% cream, a novel antibiotic for the topical treatment of impetigo in children and adults
Ozenoxacin 1% cream is an effective and safe treatment for impetigo in children and adults.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
research 25th Annual meeting of the European Society for Pigment Cell Research, Marseille, France
This study found that mitochondrial fusion regulator Opa1 is crucial for maintaining melanocyte stem cells during the hair follicle cycle in mice, with Opa1 deficiency leading to impaired SCF-KIT signaling, reduced melanocyte populations, and early hair graying.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
research Optimized skin optical clearing for optical coherence tomography monitoring of encapsulated drug delivery through the hair follicles
This study found that using a PEG-400/oleic acid mixture as an optical clearing agent enhanced the detection depth of particles in skin without causing dehydration, based on tests in rats and further testing in vivo.
research Shaping Up Mitochondrion in Motion
In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.
research MP-09.08
The study found that different criteria led to different patient groups in the CombAT study compared to the MTOPS study.
research Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome
This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
research From PCOS to PMOS: The Impact of Physical Activity, Diet, and Metabolic Health on the Course of Polyendocrine Metabolic Ovarian Syndrome
This review discusses evidence that regular physical activity and tailored dietary interventions improve metabolic health in women with PMOS, advocating for personalized lifestyle management in their care, and reports no new clinical results.
research [Reactions and side effects of ovulation inhibitors on the skin].
This study reviewed various dermatological conditions associated with oral contraceptive use, highlighting increased pigmentation, decreased sebum production, and changes in hair growth, among other effects.
research Oriental herbal medicine and moxibustion for polycystic ovary syndrome
In this meta-analysis, researchers found that moxibustion combined with oriental herbal medicine may improve pregnancy rates and other outcomes in women with polycystic ovary syndrome compared to western medication alone; however, the evidence is limited by the poor quality of included studies.
research Cryptotanshinone Suppressed Postmenopausal Osteoporosis by Preventing RANKL-Mediated Osteoclastogenesis against Kidney Injury
This study found that cryptotanshinone improved bone mass, inhibited osteoclast differentiation, and protected against kidney damage in ovariectomized rats, suggesting potential benefits for clinical use.
research Feature identification of skin diseases and laser therapy with a portable optical coherence imaging system
This study suggests that a portable OCT system may be useful for the clinical diagnosis and evaluation of skin diseases and laser treatment outcomes.
research Association between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome
This study found that genetic polymorphisms of OCT1 influence the effectiveness of metformin treatment in improving insulin sensitivity among PCOS patients, suggesting a role for personalized treatment strategies.
research Prescription and Over-the-Counter Medications Tool Kit
This article presents a toolkit created by the FTA to help transit agencies manage employees' use of medications that could impact public safety, but it reports no new results.
research Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody–drug conjugate in breast cancer
This review highlights the promising clinical outcomes of sacituzumab tirumotecan (sac-TMT), an antibody-drug conjugate for breast cancer that targets TROP2, demonstrating improved response rates and progression-free survival, with manageable safety concerns including primarily mild-to-moderate nausea and alopecia.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
This study presents two adolescent cases of ovarian hyperthecosis, a rare cause of severe hyperandrogenism, highlighting management strategies involving gonadotropin suppression and hormone replacement after excluding androgen-producing adrenal and ovarian tumors.
research Potential applications of topical oxygen therapy in dermatology
This study found that topical oxygen therapy may be a beneficial adjuvant treatment for hair loss, acne, and chronic dermatological conditions, though further research is needed to confirm its effectiveness.
research Treatment and Diagnosis Changes Polycystic Ovary Syndrome
This review analyzes the mnemonic MY PCOS, exploring diagnosis and treatment strategies for the metabolic, cosmetic, and reproductive complications of polycystic ovary syndrome, without reporting new clinical findings.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
research Efficacy of Ozonated Olive Oil as a Topical Treatment for Dermatophytosis Caused by T. mentagrophytes in Rat Model
This study found that ozonated olive oil exhibited antifungal activity against Trichophyton mentagrophytes, comparable to the standard antifungal terbinafine, in an in vivo rat study, suggesting it may serve as an alternative treatment for dermatophytosis.