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Laparoscopy: A Comprehensive Approach for Diagnosis and Treatment of Abdominal Pain.
Mymensingh Med J
January 2025
Dr Kulsum Maula, Clinical Fellow in General Surgery, Colchester General Hospital, East Suffolk and North Essex NHS foundation trust, Colchester, Essex, CO4 5JL, GBR; E-mail:
Laparoscopy is a minimally invasive technique for visualization of the peritoneal cavity without creating large abdominal incisions. It has changed the treatment of abdominal pain in both emergency and elective settings. Many patients undergo exploration according to the conventional investigation; many are treated conservatively and discharged.
View Article and Find Full Text PDFClinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.
Orphanet J Rare Dis
December 2024
Department of Physical Medicine and Rehabilitation, Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No.45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.
Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.
View Article and Find Full Text PDFDiagnosis and Management of Orthopaedic Conditions Associated With Hereditary Sensory Autonomic Neuropathies.
J Am Acad Orthop Surg
November 2024
From the Paley Orthopedic and Spine Institute, West Palm Beach, FL (Nugraha, Hariharan, Huser, and Feldman), and Department of Surgery, Florida Atlantic University School of Medicine (Hariharan and Feldman), Boca Raton, FL.
Hereditary sensory and autonomic neuropathies (HSANs) encompass a diverse group of inherited neuropathies characterized by notable sensory and autonomic involvement that affects musculoskeletal structures and systemic function. There are 8 recognized types of HSAN. The orthopaedic manifestations of HSAN are complex and diverse, including spinal deformity, Charcot arthropathy, osteomyelitis, fractures, osteonecrosis, osteoporosis, and skeletal deformities.
View Article and Find Full Text PDFNovel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.
BMC Neurol
November 2024
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction, gastroesophageal reflux disease (GERD), and sensory and autonomic dysfunction, which are shared among the HSAN family.
Methods: Whole-exome sequencing (WES) was performed on samples from both probands, and the relevant genetic variants were confirmed in their families using Sanger sequencing. Additionally, a comprehensive literature review was conducted on previously reported cases of HSAN9, and the clinical and genetic data were assessed to provide insight into the genetic and clinical characteristics of the disease.
Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.
Sci Transl Med
November 2024
Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA.
The peripheral nervous system (PNS) is essential for proper body function. A high percentage of the world's population suffers from nerve degeneration or peripheral nerve damage. Despite this, there are major gaps in the knowledge of human PNS development and degeneration; therefore, there are no available treatments.
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