6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
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.
21 citations
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December 2020 in “Journal of the European Academy of Dermatology and Venereology” September 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study examined the clinical and radiological features of lung damage in children caused by COVID-19, highlighting the emergence and persistence of both respiratory and extrapulmonary symptoms in these cases.
This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.
January 2024 in “Ankara City Hospital Medical Journal” This case report describes a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, highlighting challenges in diagnosis due to non-specific clinical criteria and documenting specific symptoms such as inflammatory arthritis, malar rash, and hematological abnormalities observed during follow-up.
June 2025 in “Basrah Journal of veterinary Research” This article reviews the genetic diversity, clinical symptoms, diagnosis, and prevention strategies of feline calicivirus in domestic cats, but reports no new clinical results; it emphasizes the importance of vaccination and proper hygiene.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
October 2023 in “Microorganisms” This study reported that COVID-19 patients treated with nirmatrelvir/ritonavir had lower anti-spike IgG levels and different cytokine patterns compared to those not receiving antiviral treatment, suggesting early antiviral use may alter immune response by reducing viral load and antigen presentation.
4 citations
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June 2025 in “Medeniyet Medical Journal” This review explores the role of the TMPRSS2 gene in facilitating SARS-CoV-2 infection and its potential as a therapeutic target in COVID-19 and other respiratory infections, highlighting challenges in developing selective inhibitors.
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.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
November 2024 in “Skin Appendage Disorders” This study analyzed Google Trends data to explore public interest in various alopecia-related terms from 2018 to 2023, finding that search volumes for "androgenetic alopecia" and "frontal fibrosing alopecia" increased, while other terms remained stable, with notable geographic variations in search interest.
June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
71 citations
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January 2011 in “Journal of cutaneous pathology” This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.
3 citations
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December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.
December 2021 in “Journal of Rheumatic Diseases” In this case report, a 13-year-old girl with pediatric systemic lupus erythematosus experienced rare ischemic vaso-occlusive retinopathy as a first symptom, and early interventions improved her visual acuity and fever but did not fully restore vision.
8 citations
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August 2009 in “Pediatric transplantation” 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.
39 citations
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June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
12 citations
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November 2014 in “Journal of Cutaneous Medicine and Surgery” This report describes a case where oral valganciclovir treatment led to improved skin texture and hair regrowth in a patient with trichodysplasia spinulosa.
November 2004 in “Emergency Medicine News” This article reviews the clinical characteristics, treatment challenges, and epidemiology of community-acquired methicillin-resistant Staphylococcus aureus infections, highlighting their spread outside traditional hospital settings but presenting no new clinical results.
September 2024 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report describes a 6-year-old girl who developed MIS-C following COVID-19 vaccination, raising questions about the vaccine's potential role in its pathogenesis for children aged 5 to 11.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.
May 1993 in “Current problems in dermatology” This review discusses diagnostic approaches for childhood skin diseases with fever through clinical observations and covers recent advances in understanding the pathogenesis and epidemiology of related infections, without reporting new clinical results.
October 2025 in “Cermin Dunia Kedokteran” This review outlines the strategies for managing TB-IRIS in HIV patients, emphasizing early detection, prevention, and appropriate treatment to reduce morbidity and mortality.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
22 citations
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September 1993 in “Archives of Dermatology” This case report details a 4-year-old girl who developed a fever and widespread papular, pruritic rash resembling a heat rash, with a progression to thick, scaly patches but had sterile blood and urine cultures.