Purpose: Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years.
Methods: Retrospective review of medical records of patients seen at single center in 10 years.
Results: Thirty-five cases of TH, mostly Jones types Ia (18) and II (10), were diagnosed in 24 patients (13 had unilateral TH). Associated foot deformities included equinovarus (22), varus foot (10), absence of the medial row of toes (5) and polydactyly (3). Upper limbs anomalies included split-hand deformity (five patients) and radial club hand (two patients). Nine limbs of seven patients were surgically reconstructed. Modified orthosis was provided to seven patients, custom designed prosthesis fitment in six and amputation with prosthesis fitment in one. Patients presenting at adolescence or later were habituated to their deformity for indoor ambulation; families declined amputation.
Conclusion: Reports of more TH cases will provide input to researchers to consider comprehensive rehabilitation for enhancing indoor and community ambulation.
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http://dx.doi.org/10.1016/j.ejmg.2019.05.005 | DOI Listing |
Nephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
Borderline Personal Disord Emot Dysregul
January 2025
Department of Psychiatry and Psychotherapy, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Background: Dialectical behavioral therapy (DBT) and repetitive transcranial magnetic stimulation (rTMS) are both effective in treating borderline personality disorder (BPD). Impulsivity and impaired decision-making are prominent features of BPD, and therapeutic interventions targeting these symptoms could lead to significant improvements.
Objective/hypothesis: We hypothesized that intermittent theta burst stimulation (iTBS), a modified rTMS protocol that targets the left dorsolateral prefrontal cortex, would enhance the therapeutic effects of DBT, leading to greater improvements in impulsivity and decision-making compared with sham stimulation.
BMC Pharmacol Toxicol
January 2025
Department of Pharmaceutics and Pharmaceutical Technology, Kampala International University, Western Campus, P.O. Box 71, Ishaka - Bushenyi, Uganda.
Background: Piperine, a secondary metabolite, affects the antihyperlipidemic effect of Ezetimibe (EZ). Hyperlipidemia is one of the independent risk factors for cardiovascular disorders such as atherosclerosis. Antihyperlipidemic drugs are essential for reducing cardiovascular events and patient mortality.
View Article and Find Full Text PDFKnee Surg Relat Res
January 2025
Department of Orthopedics, Seoul National University College of Medicine, Seoul, South Korea.
Introduction: Prosthetic joint infection (PJI) is one of the most common and detrimental complications of total knee replacement arthroplasty (TKA). Despite extensive efforts, including two-stage reimplantation, to eradicate PJI, it still recurs in a substantial number of patients. However, the risk factors of recurrence after two-stage reimplantation of the knee have not been established.
View Article and Find Full Text PDFGen Thorac Cardiovasc Surg Cases
January 2025
Osaka Metropolitan University Graduate School of Medicine, 1-4-3, Asahimachi, Abeno-Ku, Osaka, 545-8585, Japan.
Background: Repair of the regurgitant bicuspid aortic valve is an attractive alternative to valve replacement. Although good long-term outcomes have been reported, postoperative aortic stenosis remains a major late cause of repair failure in bicuspid aortic valves. Sinus plication is effective for creating a more symmetrical commissural angle, leading to a decrease in the mean transvalvular pressure gradient.
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