American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Prevalence and risk factors of lung nodules in a non-smoking Chinese population: a prospective study of low-dose computed tomography screening. [PDF]
BMC Pulm MedTang W +11 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
The Role of MicroRNA in the Behaviour of Periodontal Ligament Stem Cells and Stem Cells from the Apical Papilla: A Systematic Review. [PDF]
Stem Cell Rev RepSanz JL +7 more
europepmc +1 more source
A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis
Animal Models and Experimental Medicine, EarlyView.A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu +6 more
wiley +1 more source
Rationale for the Nodule Management Protocol of the Australian National Lung Cancer Screening Program. [PDF]
J Med Imaging Radiat OncolMcCusker MW +10 more
europepmc +1 more source
The characteristics of collagen‐induced rheumatoid arthritis in macaques and the changes of heart
Animal Models and Experimental Medicine, EarlyView.The disease progression in CIA macaques was categorized into three stages: IIR (days 14–34): The indicators related to rheumatoid arthritis and the levels of immunoglobulin were all elevated. There was a small amount of joint effusion, edema and mild synovial hyperplasia. No joint swelling was observed by naked eye.
Lei Zhang +8 more
wiley +1 more source
Pulmonary Nodular Lymphoid Hyperplasia Presenting With a Reversed Halo Sign. [PDF]
Respirol Case RepYamano T, Yano S, Yoshida Y, Hwang MH.
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.To address the limitations of existing models, this study innovatively established a mouse model of endometriosis (EMs) capable of mimicking cyclic bleeding. Our results confirmed that this model recapitulates the complete pathological progression from ectopic lesion establishment to systemic responses, exhibiting superior clinical relevance compared ...
Yu Zhuang +7 more
wiley +1 more source
Clinical Value of Core Needle Biopsy as a Second-Line Approach After Non-Conclusive Fine-Needle Aspiration in Thyroid Nodules: A Paired Analysis. [PDF]
Diagnostics (Basel)Markovic V +6 more
europepmc +1 more source