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| http://dx.doi.org/10.4103/0019-5049.155010 | DOI Listing |
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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Dacryoscintillography in Patients With Symptomatic, but Patent, Lacrimal Drainage Systems.
Ophthalmic Plast Reconstr Surg
December 2024
Adnexal Service, Moorfields Eye Hospital, London, United Kingdom.
Purpose: To relate dacryoscintillographic features to presenting symptoms and signs for watery-eyed patients with patent drainage systems.
Methods: Retrospective case note and imaging review for patients with watering eye(s) and clinical evidence of impaired tear drainage who underwent dacryoscintillography (DSG). Three DSG features were graded, along with 4 symptoms, 7 signs, and the degree of fluid reflux and nasal fluid passage on gentle syringing.
Foundational Image Analyses for Ultrasonographic Screening of Abdominal Aortic Aneurysm.
Ann Vasc Dis
December 2024
Department of Anesthesiology, Kochi Medical School, Nankoku, Kochi, Japan.
With improved surgical outcomes for non-ruptured abdominal aortic aneurysm (AAA), the primary objective has shifted toward the detection of asymptomatic AAA. Since ultrasonographic visualization from the anterior abdominal wall is often obstructed by intestinal gas, utilizing additional bilateral posterior approaches via the retroperitoneal tissue may be beneficial. This study investigates the feasibility of assessment using three approaches through computed tomography (CT) data analyses.
View Article and Find Full Text PDFDEVELOPMENT OF ENDOSALPINGIOSIS IN PATIENTS WITH A HISTORY OF BREAST CANCER.
Georgian Med News
October 2024
1Department of Obstetrics and Gynecology, National Hospital Organization Kyoto Medical Center, Kyoto city, Kyoto; 3Seeds Development and Research Platform Project, Japan Agency for Medical Research and Development (AMED), Chiyoda-ku, Tokyo; 4Kyoto University Graduate School of Medicine, Kyoto city, Kyoto, Japan.
Endosalpingiosis occurs in relatively young women. The incidence of endosalpingiosis exceeds that of other diseases affecting female tissues. As endosalpingiosis is a benign tumor, several women with endosalpingiosis are asymptomatic.
View Article and Find Full Text PDFA 10-Year Single Center Analysis: Is There a Need to Reconsider Our Approach to the Management of Neonatal Testicular Torsion?
Cureus
November 2024
Pediatric Surgery, Royal Hospital for Children, Glasgow, GBR.
The management of neonatal testicular torsion lacks consensus. Arguments in favor of emergency bilateral exploration and fixation include a salvage rate and the incidence of bilateral torsion. We performed a retrospective single-center analysis of all cases of neonatal torsion in our unit between 2012 and 2022 to assess whether our data supports this approach and to publish further data on a disease on which there remains a paucity.
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