117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
1 citations
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January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
January 2021 in “Research Square (Research Square)” This study found that repeated plateletpheresis had no significant effect on whole blood cells and plasma proteins in donors, maintaining levels within a normal range.
7 citations
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September 2024 in “Journal of Comparative Effectiveness Research” This study reports that health-related quality of life was generally maintained, and sometimes improved, in patients with HR+/HER2- advanced or metastatic breast cancer treated with palbociclib, compared to monotherapy, across various study types.
This article presents a collection of 70 multiple choice questions designed to assist haematology and core medical trainees with diagnostic and management skills, but it provides no new clinical findings.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
34 citations
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April 2008 in “Journal of the European Academy of Dermatology and Venereology” This study reported that while lichen planus was not significantly linked to hepatitis C virus infection, pruritus, dry skin, and hair loss were more common in HCV patients post-interferon treatment.
24 citations
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December 1997 in “Mayo Clinic proceedings” This report describes a case where a woman developed bronchiolitis obliterans organizing pneumonia and lupus potentially induced by carbamazepine, a reaction not previously documented.
February 2018 in “InTech eBooks” PCOD is a complex condition with unclear causes and varied treatments.
March 1999 in “Hair transplant forum international” This commentary reflects on the American Board of Hair Restoration Surgery's establishment and does not report new findings.
50 citations
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February 2007 in “Clinical obstetrics and gynecology” This review discusses the clinical manifestations and diagnostic challenges of polycystic ovary syndrome in adolescents, emphasizing the importance of early diagnosis and intervention to manage symptoms effectively, but it reports no new clinical results.
August 2021 in “Pediatrics in review” This case study reports that a 16-year-old girl with hirsutism and menstrual irregularities was diagnosed with a benign steroid cell ovarian tumor, after high testosterone levels indicated a potential androgen-secreting source.
32 citations
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June 2019 in “Frontiers in Endocrinology” This review discusses the overlapping clinical features and diagnostic challenges of non-classic adrenal hyperplasia and polycystic ovary syndrome without presenting original research findings.
December 2020 in “International Journal of Research in Pharmaceutical Sciences” 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.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
4 citations
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June 2019 in “Revista brasileira de ginecologia e obstetrícia” This article discusses the prevalence of hirsutism in women and highlights that many cases exhibit normal androgen levels, suggesting a need for broader diagnostic approaches.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
34 citations
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February 2016 in “Fertility and Sterility” This study suggests that higher PDCD4 expression may play a significant role in polycystic ovary syndrome pathogenesis through its association with obesity, insulin resistance, lipid metabolism disorders, and increased granulosa cell apoptosis.
2 citations
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July 2009 in “Mayo Clinic Proceedings” This case report describes a 66-year-old woman diagnosed with porphyria cutanea tarda, characterized by painless vesicular lesions on sun-exposed areas and associated with hemochromatosis, and managed effectively with phlebotomy.
April 2023 in “Journal of Investigative Dermatology” This case study reports an unusual presentation of primary cutaneous diffuse large B-cell lymphoma–leg type occurring on the upper lip of an 81-year-old woman, highlighting the need for timely recognition of atypical manifestations.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
April 2020 in “Journal of the Endocrine Society” This case report details an atypical presentation of Hodgkin's lymphoma in an 87-year-old man, where severe hypercalcemia and mental status changes prompted further investigation and diagnosis.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found weak epidemiological associations between male pattern baldness and coronary heart disease, but no significant genetic link, though specific loci shared risks with other conditions.
2 citations
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June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
March 2016 in “International Journal of Infectious Diseases” This study reported that peginterferon alpha-2a showed high early and sustained virologic response rates in Albanian hemodialyzed patients with hepatitis C, despite causing several adverse effects.