January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
March 2018 in “The journal of applied laboratory medicine” This article presents a case study of a 3-month-old boy with a worsening rash initially diagnosed as impetigo, which did not improve with antibiotics and required further dermatological investigation.
15 citations
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July 2020 in “Applied Sciences” This study found that a single injection of Platelet Rich Stroma improved knee function and reduced pain and stiffness in patients with knee osteoarthritis over twelve months.
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.
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.
39 citations
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January 2012 in “Acta dermato-venereologica” This study examined 27 DRESS patients diagnosed in Thailand, identifying phenytoin, allopurinol, and nevirapine as common causes, with a 3.7% mortality rate and systemic corticosteroids being a common treatment.
8 citations
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January 2013 in “Australasian journal of dermatology” This review examines trichodysplasia spinulosa, a rare virus-linked skin condition in immunosuppressed individuals, noting its clinical features and highlighting antiviral treatment efficacy, without new clinical results.
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.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
100 citations
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November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
11 citations
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September 2016 in “Journal of virological methods” In this study, rabies virus antigens were detected in the outer root sheath of the follicle-sinus complex in the muzzle skin of rabid dogs, suggesting its usefulness as an alternative diagnostic specimen.
7 citations
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March 2022 in “Indian Pediatrics” This review summarizes the various skin manifestations of SARS-CoV-2 infection in children, noting that chilblains are the most common and that many affected children are asymptomatic.
July 2023 in “Journal of allergy and clinical Immunology. Global” 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.
2 citations
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June 2020 in “Research Square (Research Square)” This study demonstrated that the antiandrogen drug enzalutamide may reduce TMPRSS2 levels in human lung cells and mouse lungs, supporting its potential as a COVID-19 treatment option.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
91 citations
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July 2004 in “BMJ. British medical journal” This review covers the epidemiology, clinical features, and treatment of four common skin infections in children, reporting no new experimental findings.
47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.
January 2014 in “Revue des Maladies Respiratoires” This study confirmed significant and dramatic ophthalmic and mucocutaneous sequelae from Stevens-Johnson and Lyell syndromes in Morocco, affecting the social and professional integration of mostly young patients.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
1 citations
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March 2020 in “Poster presentations” This case report describes a female SLE patient with CNS involvement who developed an acute West Nile virus infection, highlighting the diagnostic challenges in differentiating infection from a disease flare in immunosuppressed individuals.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
August 2023 in “Acta Scientific Veterinary Sciences” This case report describes the successful treatment of Sarcoptes scabiei infestation in rabbits using Ivermectin, Vimeral syrup, and Benzyl Benzoate, resulting in the resolution of clinical signs and elimination of the parasite within four weeks.
This case report concludes that the most likely diagnosis for the patient's symptoms is secondary syphilis with neurological involvement.
1 citations
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May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that recognizing herpetic infection in pemphigus patients can help avoid unnecessary changes in immunosuppressive treatments for lesions wrongly presumed treatment-resistant.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
November 2021 in “Journal of the European Academy of Dermatology and Venereology” This study found that children with COVID-19 experienced more frequent acral ischemic lesions, whereas telogen effluvium was the most common skin manifestation in adults.
September 2023 in “Journal of the American Academy of Dermatology”
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
2 citations
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July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that both SARS-CoV-2 and other acute respiratory infections are linked to a wide range of long-term symptoms, highlighting the need to investigate post-acute sequelae beyond COVID-19.