107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” This study found that in a mouse model of Ross River virus-induced joint inflammation, targeting IL-17A and IL-17A/F heterodimers reduced disease severity.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
May 2026 in “Journal of Clinical Oncology” This study found that nearly 40% of Hodgkin’s Lymphoma patients who received Brentuximab Vedotin with AVD chemotherapy experienced persistent alopecia more than two years after treatment, leading to significant psychosocial consequences such as reduced self-confidence and emotional distress.
41 citations
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April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
13 citations
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January 2021 in “The American journal of gastroenterology” In this study, sirolimus treatment reduced the size of venous malformations and improved anemia, transfusion dependence, and quality of life in patients with blue rubber bleb nevus syndrome, though mild adverse effects were reported.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
32 citations
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October 2004 in “Pharmacotherapy” In this study, peginterferon alfa-2b plus ribavirin therapy in hepatitis C patients was associated with serious adverse drug reactions in 20% of cases, highlighting differences from clinical trial findings.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
April 2026 in “The Open Biotechnology Journal” This review reports that resveratrol could benefit the management of chronic illnesses such as diabetes and cardiovascular disease, but challenges with bioavailability and regulatory issues persist.
1 citations
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November 2011 in “Journal of AIDS & Clinical Research” Raltegravir may cause hair loss in some patients.
3 citations
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October 2021 in “Brain Sciences” This review hypothesizes that risperidone long-acting injectable may be linked to bullous pemphigoid in a bipolar patient, though current studies report mixed results.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
39 citations
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June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that varicella-zoster virus infection in skin cells may play a role in segmental vitiligo's progression and depigmentation.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
4 citations
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April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” This case report describes a 16-year-old liver transplant patient with previous chicken pox infection experiencing disseminated varicella zoster virus infection with pneumonia, highlighting the importance of early acyclovir treatment in immunocompromised patients.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
20 citations
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May 2000 in “Journal of The American Academy of Dermatology” This report suggests that orf infections in Brussels often occur after the Islamic Feast of Sacrifice due to the ritual sheep sacrifice, affecting both men and women handling the animals.
6 citations
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November 2015 in “Equine Veterinary Education” This report describes the successful treatment of multiple extrapulmonary disorders from Rhodococcus equi pneumonia in a foal, emphasizing the importance of thorough diagnosis and targeted treatment.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
13 citations
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August 2000 in “Blood” This article discusses the evaluation of minimal residual disease in childhood acute lymphoblastic leukemia using molecular methods and reports no new findings.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
10 citations
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October 2015 in “Journal of the International Association of Providers of AIDS Care” This case report describes a severe form of HIV-associated pityriasis rubra pilaris in a dark-skinned woman that improved rapidly and sustainably with combination antiretroviral therapy, despite atypical presentation without significant erythroderma.
9 citations
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April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.