4 citations
,
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.
2 citations
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May 2017 in “The Journal of Dermatology” This case report describes a Japanese bone marrow transplant recipient who developed a high-risk cutaneous squamous cell carcinoma on the scalp, potentially linked to long-term voriconazole use.
25 citations
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March 2008 in “Surgical Neurology” This case study describes successful treatment of a left temporal scalp arteriovenous malformation through a multidisciplinary approach combining endovascular embolization and surgical excision, resulting in high patient satisfaction.
April 2023 in “JMIR Research Protocols” In this study, researchers are constructing a comprehensive data set from 997 adult participants in Japan to develop a statistical model that explores the relationships among various health parameters, aiming to enable personalized and preventive health care interventions based on empirical data.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
25 citations
,
May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
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.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
49 citations
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November 2012 in “Journal of neurology, neurosurgery and psychiatry” This review discusses non-motor symptoms in patients with thymoma-associated myasthenia gravis, suggesting these symptoms, which can be treatable, often go overlooked despite affecting multiple organs.
2 citations
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April 2020 in “International Journal of Dermatology and Venereology” This review summarizes current evidence on how beta-human papillomavirus and Merkel cell polyomavirus may contribute to the development of nonmelanoma and Merkel cell skin carcinomas, respectively, but it reports no new clinical findings.
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.
2 citations
,
December 2008 in “Clinical and Experimental Dermatology” This case report describes a 10-year-old girl with a cosmetically concerning forehead lesion and a history of right frontal headaches, featuring a small palpable and pulsatile erythematous lesion with associated macular erythema.
26 citations
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December 2003 in “Experimental Dermatology” In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
64 citations
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May 1981 in “Clinical and Experimental Dermatology” This case report describes a patient with myasthenia gravis, alopecia, and hair follicle hamartoma, showing notable similarities to a previously reported case.
2 citations
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August 2022 in “Viruses” This study found that cutaneous squamous cell carcinomas in mice infected with murine papillomavirus preferentially arise from Lgr5+ progenitor cells, while squamous cell dysplasia does not.
18 citations
,
October 1978 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that excess vitamin A induced stable glandular morphogenesis and mucous metaplasia in embryonic mouse vibrissa follicles, even after switching to standard medium.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
27 citations
,
April 2017 in “European journal of endocrinology” This retrospective study found that serum hormone levels and MRI detection of ovarian nodules contributed to distinguishing virilizing ovarian tumors from ovarian stromal hyperthecosis in postmenopausal women, though histopathology remains crucial for diagnosis.
16 citations
,
August 2000 in “British Journal of Dermatology” In this case report, lichen myxedematosus associated with hepatocellular carcinoma showed progressive improvement in skin lesions without further treatment following tumor resection.
In this animal study, rats treated with recombinant human growth hormone (at both low and high doses) experienced quicker burn wound healing than controls, with increased micro vessel density and altered expression of vascular endothelial growth factor, alongside changes in oxidative stress and inflammation markers.
1 citations
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October 2018 in “The American journal of gastroenterology” This case report describes a 29-year-old male with relapsing hepatitis A, a rare complication of acute hepatitis A virus infection, characterized by prolonged elevated liver chemistries and persistent HAV IgM, managed conservatively.
April 2017 in “Medicina Clínica (english Edition)” This review discusses the diagnosis and management of acquired haemophilia and reports no new findings; the authors highlight the importance of early diagnosis to reduce mortality.
July 2004 in “Journal of Clinical Oncology” This study found that therapeutic isolated limb perfusion with melphalan for in-transit melanoma metastases resulted in a high response rate but was associated with some systemic toxicity, including nausea, vomiting, and transient bone marrow depression.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
December 2024 in “PubMed” This case study describes a 55-year-old Japanese male with Vogt-Koyanagi-Harada disease who experienced no hair regrowth but did have hair repigmentation after localized steroid injections, highlighting an unusual late-onset poliosis and alopecia, which has not been previously reported.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
8 citations
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March 2022 in “Frontiers in Cell and Developmental Biology” This study found that intravenous transplantation of human hair follicle-derived mesenchymal stem cells improved trabecular bone mass in osteoporotic mice by enhancing bone formation and reducing bone resorption.
1 citations
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April 1998 in “PubMed”