Schwannomas are benign slow-growing tumours arising from the Schwann cells of the nerve sheath. They may arise anywhere in the course of the nerves in the body. The clinical presentations are non-specific, and when present in rare locations such as lungs, the diagnosis becomes difficult. The present case series describes the clinical presentation and diagnosis of five cases of lung schwannoma. The diagnosis was mainly assisted by the immuno-histochemical examination comprising markers such as S-100, Calretinin, CD34, CD56, Desmin, and EMA. A definitive diagnosis of benign nerve tumours in such rare locations may help in better pre-operative assessment and surgery for complete recovery of the patients.
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http://dx.doi.org/10.4103/lungindia.lungindia_197_22 | DOI Listing |
Sci Rep
December 2024
Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, Hunan, P. R. China.
Dopamine (DA) plays important roles in various behaviors, including learning and motivation. Recently, THOC5 was identified as an important regulator in the development of dopaminergic neurons. However, how THOC5 is regulated has not been explored.
View Article and Find Full Text PDFAnn Clin Transl Neurol
December 2024
Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, P. R. China.
Background: Variants in the GABRA2 gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.
Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.
BMC Womens Health
December 2024
Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Introduction: IUDs are effective, reversible and safe methods of contraception. The mechanism of action of IUDs as a group is inducing endometrial atrophy, apoptosis, altering tubal motility; preventing sperm permeability, fertilization, and implantation. Complications of IUD include menstrual disturbance, pelvic pain, and increased risk of ectopic pregnancy with contraceptive failure, device expulsion, uterine perforation or transmural migration with misplacement of the device.
View Article and Find Full Text PDFJ Trauma Inj
December 2024
Department of Acute Care Surgery, Korea University Guro Hospital, Seoul, Korea.
Cardiac compression is the most crucial component of successful cardiopulmonary resuscitation (CPR). However, CPR procedure poses a risk of complications, even when CPR providers perform cardiac compressions as recommended. Reports indicate that solid organ injuries, including liver injuries, occur with an incidence of about 0.
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