13 citations
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July 2024 in “Heart Failure Reviews” This review compiles data on how the apelinergic system may protect against heart damage caused by doxorubicin cancer treatment, suggesting its potential to mitigate cardiotoxicity, though further research in chronic models is needed to confirm these effects and mechanisms.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
17 citations
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August 2018 in “Ophthalmic Plastic and Reconstructive Surgery” This study found that in eyelids with ptosis, voluntary brow elevation raises the eyelid position similar to maximal eyelid opening, suggesting brow lifting is driven by efforts to elevate the eyelid.
3 citations
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August 2023 in “Drug safety” This source reports that trastuzumab deruxtecan improves outcomes in HER2-positive and HER2-low metastatic breast cancer, emphasizing the need for careful adverse event monitoring, particularly for interstitial lung disease, and managing emetic risk to maximize benefits.
April 2024 in “African Journal of Biological Sciences” This case report describes a patient with systemic lupus erythematosus who developed Degos disease and non-scarring alopecia, highlighting dermoscopy's role in diagnosis and treatment prognosis.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
December 2025 in “Meditsinskiy sovet = Medical Council” This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.
March 2026 in “Cell Transplantation” In this study, a bibliometric and science-mapping analysis revealed that cardiac xenotransplantation research is expanding rapidly, with significant collaboration primarily among institutions in the United States, Europe, and East Asia, and a focus on gene-edited donors and clinical trial readiness.
August 2016 in “PolyPublie (École Polytechnique de Montréal)” This study observed early cardiac effects in young minipigs following high-dose doxorubicin chemotherapy, with a decrease in heart function and changes in cardiac MRI measurements compared to controls.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
March 2016 in “Korean Journal of Medicine” This study reported that doxazosin may result in gynecomastia after administration but evidence and expert reviews on this are still lacking domestically.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
November 2022 in “Journal of the Endocrine Society” This case study reports a rare instance of an estradiol-secreting adrenocortical carcinoma in a 58-year-old male, causing feminization and Marie-Antoinette syndrome, with potential paraneoplastic aortitis.
3 citations
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February 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
1 citations
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July 1990 in “PubMed” This case report describes a patient with eosinophilia-myalgia syndrome related to L-tryptophan use, detailing the specific symptoms and laboratory abnormalities observed.
6 citations
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January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This case report describes the successful surgical removal of a trichobezoar in an 8-year-old girl, which extended from her stomach into the duodenum.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
February 2019 in “Dermatologic Surgery” This overview describes the Dermatologic Surgery journal, which publishes extensive peer-reviewed content on skin surgery, but presents no new research findings.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.
June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.
22 citations
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May 2010 in “Journal of Pediatric Gastroenterology and Nutrition” This case report documents a rare instance of Rapunzel syndrome causing biliary obstruction in a 3-year-old girl, highlighting the importance of considering trichobezoar in cholestasis diagnosis.
April 2025 in “Our Dermatology Online” This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” This study found that women with PCOS displayed significantly higher activity of 5alpha-reductase, suggesting an additional role for liver and peripheral tissues in their androgen excess.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
April 2019 in “Abstracts” This case study describes a rare presentation of childhood lupus with recurrent pericardial effusion and cardiac tamponade that responded to glucocorticoid therapy.
32 citations
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January 2010 in “Journal of Korean Medical Science” This case report describes a rare instance of functioning adrenocortical oncocytoma in a 14-year-old girl with virilization and reviews related literature.
31 citations
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January 2018 in “Pediatric annals” This article reviews the characteristics, diagnosis, and management of premature adrenarche and suggests it may predict future ovarian hyperandrogenism in some adolescents; no new clinical results are reported.