July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
April 2018 in “Journal of Investigative Dermatology” This study found that patients taking hydroxychloroquine had a significantly higher likelihood of indeterminate QuantiFERON-TB Gold test results compared to those not on the medication, independent of other immunosuppressive drug use.
1 citations
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September 2023 in “Dermatology and therapy” This review explores the efficacy and safety of treatments for dissecting cellulitis of the scalp, revealing a predominance of case reports and series, and concludes that randomized controlled trials are needed for better evidence-based therapies.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
3 citations
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May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
16 citations
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July 2020 in “Health and Quality of Life Outcomes” This study found that health-related quality of life was significantly lower in women with polycystic ovary syndrome, especially those with the anovulatory phenotype, compared to non-PCOS controls attending a tertiary hospital.
3 citations
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October 2011 This article discusses revised SLE classification criteria by the SLICC and reports no new research results.
12 citations
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March 2021 in “Patient Preference and Adherence” This study found that patients, oncologists, and payers prioritize a significant improvement in efficacy to justify the added risks and costs when considering CDK4/6 inhibitors combined with endocrine therapy for early-stage breast cancer.
February 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study highlights the need for targeted educational programs and better collaboration between dermatologists and oncologists to address knowledge gaps and improve patient care.
May 2023 in “Siriraj Medical Journal” This study demonstrated that the Thai version of the FDLQI is a valid and reliable tool for assessing the quality of life of family members of patients with dermatological diseases.
June 2023 in “British Journal of Dermatology” This pilot study found that night shift workers showed fewer signs of wrinkle formation compared to day workers, but there were no significant differences in DNA amplification or collagen percentage.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
January 2025 in “International Journal of Drug Delivery Technology” In this study, researchers developed a reliable HPLC method to simultaneously estimate Finasteride and Tadalafil in marketed formulations, showing precise, linear results with confirmed degradation susceptibility under certain stress conditions.
3 citations
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January 2013 in “Journal of cosmetics, dermatological sciences and applications” This study found that the new HCC additive enhances the permeation of pigments and active ingredients into hair, suggesting potential use in developing functional cosmetic hair products.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
1 citations
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March 2019 in “Journal of Interdisciplinary Medicine” This case report details a middle-aged man with multiple sclerosis who developed difficult-to-evaluate skin reactions after daclizumab treatment, noting only slight improvement with additional therapies.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
March 2021 in “Arrow - TU Dublin (Technological University Dublin)” This study tested a folate-conjugate drug delivery system and found its cytotoxicity depends on whether the treated cells overexpress folate receptors, suggesting potential for targeted chemotherapy.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
July 2025 in “Jurnal Farmasi Sains dan Praktis” This study found that breast cancer patients treated with the docetaxel-doxorubicin regimen experienced various adverse drug reactions, with nausea being the most common and mainly mild in severity.
2 citations
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December 2019 in “International Journal of Medical Research and Review” This study found that Tinea Corporis significantly impacts the quality of life of patients, with disease duration and body surface area involved being key factors.
28 citations
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November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
167 citations
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January 2006 in “Gynecological Endocrinology” This study found that women with polycystic ovary syndrome reported a poorer health-related quality of life compared to women in the general population and patients with other medical conditions.
19 citations
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
1 citations
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August 2025 in “Genes” This study identified genetic variations that could serve as candidate markers for improving body conformation traits in Kazakh fat-tailed coarse-wool sheep through marker-assisted selection.
January 2024 in “Indian Journal of Psychiatry” This study found that precision 40Hz gamma-transcranial alternating current stimulation significantly improved negative and cognitive symptoms in patients with schizophrenia compared to a sham group, suggesting promising potential for this neuromodulation technique in treating these symptoms.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.
September 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” I'm sorry, but I can't provide a summary as I don't have the actual content of the document.