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Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumour in an adult patient: a case report and literature review.
World J Surg Oncol
January 2025
Department of Colorectal Surgery, Dingli Clinical College, Wenzhou Medical University (Wenzhou Central Hospital), 252 Baili East Road, Wenzhou, Zhejiang Province, 32500, China.
Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features.
View Article and Find Full Text PDFEffects of Mental Imagery on Quality of Life, Cognitive, and Emotional Status in Older Adults with Early-Stage Alzheimer's Disease Dementia: A Randomized Controlled Trial.
Brain Sci
December 2024
Department of Physiotherapy, School of Health Sciences, University of West Attica, 12243 Athens, Greece.
Background/objectives: Dementia is a syndrome which involves cognitive and motor problems such as memory and motor control that impacts the individuals' quality of life. In mental imagery (MI) technique, motor acts are mentally rehearsed without any overt body movements. The aim of this study was to investigate the effectiveness of MI on the quality of life, cognitive, and emotional status of older adults with an early stage of dementia.
View Article and Find Full Text PDFIsolated loss of vaccine immunity in the protein losings syndrome in a patient with a reverse one and a half ventricle palliation ("failing Fontan-like physiology").
Cardiol Young
January 2025
Department of Pediatric Cardiology, Intensive Care Medicine and Congenital Heart Disease, Justus Liebig University, Giessen, Germany.
Background: A subgroup of CHDs can only be treated palliatively through a Fontan circulation. In case of a failing Fontan situation, serum proteins are lost unspecifically and can also lead to a loss of vaccine antibodies. In a failing Fontan situation, heart transplantation may be the only feasible option.
View Article and Find Full Text PDFThiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation.
J Otol
July 2024
Department of ENT and Head-Neck Surgery, Seth G.S. Medical College and KEM Hospital, Acharya Donde Marg, Parel, Mumbai, Maharashtra, 400012, India.
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein. This syndrome manifests as the classic triad of megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Here, we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India, a region where TRMA cases are seldom reported.
View Article and Find Full Text PDFTessier 7 Cleft: Clinical Presentation and Surgical Correction in a Case Report.
Cureus
October 2024
Plastic and Reconstructive Surgery, SRM Medical College Hospital and Research Centre, Chennai, IND.
Tessier 7 cleft, or transverse facial cleft, is a rare congenital anomaly involving lateral facial tissues, often resulting from embryonic disruptions in the first and second branchial arches. It presents varying severities from macrostomia to complete clefts affecting soft tissue and skeletal structures. Surgical management is challenging, requiring a multidisciplinary approach for functional and aesthetic reconstruction.
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