Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation.

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.

Risk factors for mortality after 3-column osteotomy.

Purpose: Three-column osteotomies (3COs), such as pedicle subtraction osteotomy (PSO) and vertebral column resection (VCR), are used to surgically correct rigid adult spinal deformity (ASD). While extensive research exists about complications associated with 3COs, there remains a paucity of studies analyzing risk factors for mortality following 3CO. We believe the mortality rate after 3-column osteotomy will be low with specific identifiable demographic or medical risk factors.

Biomarkers of Parkinson's Disease.

Background: Parkinson's disease (PD) is a degenerative brain disease characterised by motor and non-motor symptoms. Motor disabilities, including dystonia and dyskinesia, cause speech and movement difficulties and limit many aspects of life. Factors affecting PD refer to the various internal and external conditions that contribute to the onset, severity and progression of the disease.

Urological Outcomes and Adverse Events Following Total Pelvic Exenteration for Locally Advanced and Recurrent Rectal Cancer: A Single Centre Retrospective Study.

Objective: To assess urological complications in patients undergoing total pelvic exenteration (TPE) for locally advanced (LARC) and recurrent rectal cancer (RRC) as publications in this area are limited. Secondary objectives were to assess whether LARC vs RRC or radiation status affected urological outcomes.

Methods: Single-centre, retrospective study of TPE patients between January 2017 and December 2022.

Salvaging Vision: A Study of Non-Traumatic Optic Neuropathies.

Background And Objectives: Various ear, nose, and throat (ENT) conditions can result in vision loss. The purpose of this study is to identify the etiologies, presentations, and radiological findings associated with impaired vision in the context of ENT. Additionally, this article discusses management protocols, including optic nerve decompression and orbital decompression.