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Identification and analyses of exonic and copy number variants in spastic paraplegia.
Sci Rep
June 2024
School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.
Article Synopsis
- Hereditary spastic paraplegias are a group of disorders marked by lower limb spasticity, categorized as either isolated or symptomatic, with additional neurological complications.
- The study focused on identifying genetic causes in three consanguineous families from Punjab, using blood samples and exome sequencing to find rare homozygous variants linked to the disorders.
- Key findings included a deletion in SPG11 related to complex movement disorders and specific mutations in DDHD2 and AP4B1, highlighting the genetic diversity and complexity of hereditary spastic paraplegia conditions.
Rare exonic variants identified in Bladder Exstrophy Epispadias Complex.
Front Genet
June 2024
Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.
Article Synopsis
- Bladder exstrophy epispadias complex (BEEC) is a rare birth defect with unclear causes, though genetics may play a role, and newer sequencing technologies help pinpoint genetic factors.
- The study aimed to find rare genetic variants linked to bladder regeneration in 12 patients with BEEC, classifying their bladder function as either sufficient or insufficient.
- Out of 44 genes studied, the researchers discovered rare genetic variants in two genes among sufficient cases and seven variants across five genes in unsuspected cases, highlighting the potential genetic contributors to the condition.
The Consistency of Anti-Toxocara IgG Between the Aqueous Humor and Vitreous of Patients With Clinically Suspected Ocular Toxocariasis.
Am J Ophthalmol
November 2024
From the Affiliated Xuzhou Municipal Hospital of Xuzhou Medical University (Q.X., C.G., Y.Z., R.F., L.Q., S.L.), Xuzhou First People's Hospital, Xuzhou Key Laboratory of Ophthalmology, Xuzhou Eye Disease Prevention and Treatment Institute, Xuzhou, China; Department of Ophthalmology (X.Y., J.L., Z.Z., A.S., Y.L., Y.L.,S.L.), The Affiliated Xuzhou Municipal Hospital of Xuzhou Medical University, Xuzhou First People's Hospital, Eye Institute of Xuzhou, Xuzhou, China. Electronic address:
Purpose: To assess the consistencies of anti-Toxocara IgG (T-IgG) and Goldmann-Witmer coefficient (GWC) between paired aqueous humor (AH) and vitreous samples from patients with clinically suspected ocular toxocariasis (OT).
Design: Inter-test reliability assessment.
Methods: A total of 47 patients with clinically suspected OT who underwent vitrectomy were included.
Implementation of a high-resolution, high-contrast magnetic resonance imaging protocol with extended delayed phases for peritoneal mesothelioma.
Quant Imaging Med Surg
March 2024
Department of Surgery, Yale School of Medicine, New Haven, CT, USA.
Background: Imaging of peritoneal malignancies using conventional cross-sectional imaging is challenging, but accurate assessment of peritoneal disease burden could guide better selection for definitive surgery. Here we demonstrate feasibility of high-resolution, high-contrast magnetic resonance imaging (MRI) of peritoneal mesothelioma and explore optimal timing for delayed post-contrast imaging.
Methods: Prospective data from inpatients with malignant peritoneal mesothelioma (MPM), imaged with a novel MRI protocol, were analyzed.
Preoperative Bladder Scanning Can Predict Postoperative Urinary Retention Following Total Joint Arthroplasty.
J Bone Joint Surg Am
April 2024
Bone and Joint Institute, Hartford Hospital, Hartford, Connecticut.
Background: As total joint arthroplasty (TJA) moves to the outpatient setting, it is becoming clear that postoperative urinary retention (POUR) is a potential impediment to same-day discharge. Although risk factors for POUR have been widely studied, the lack of their clinical utility warrants investigation of specific preoperative factors that can assist in surgical planning and patient optimization. The purpose of the current study was to determine whether preoperative symptom surveys and bladder scanning are useful tools in identifying POUR risk.
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