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Characterization of LTBP2 mutation causing mitral valve prolapse.
Eur Heart J Open
January 2025
Department of Medicine, Cardiovascular Precision Medicine Center, Hadassah Hebrew University Medical Center, P.O. Box 12000, 9112001 Jerusalem, Israel.
Aims: Mitral valve prolapse (MVP) is a common valvular disorder associated with significant morbidity and mortality, with a strong genetic basis. This study aimed to identify a mutation in a family with MVP and to characterize the valve phenotype in LTBP2 knockout (KO) mice.
Methods And Results: Exome sequencing and segregation analysis were performed on a large family with MVP.
Knowledge, attitude and practice of physical therapists in the care of women undergoing treatment for cervical cancer: a survey of practice in Brazil.
Physiother Theory Pract
January 2025
Department of Physical Therapy, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Background: The increase in survival rates among women treated for cervical cancer (CC) requires greater attention to the side effects of treatment. Although a high prevalence of pelvic floor disorders (PFD) in this population is documented, there is a lack of consensus regarding physical therapy approaches.
Methods: Cross-sectional observational study with 56 physiotherapists who answered a questionnaire.
Postpartum pyogenic sacroiliitis masquerading as sciatic neuropathy.
BMJ Case Rep
January 2025
Department of Orthopedics, SDM College of Medical Sciences and Hospital, Shri Dharmasthala Manjunatheshwara University, Dharwad, Karnataka, India.
Low back pain is common in women, especially during pregnancy and puerperium. Septic sacroiliitis, a rare cause of back pain in the postpartum period can mimic other common causes of low back pain like muscle strain, urinary tract infection, pelvic inflammatory disease, endometritis and intervertebral disc prolapse. The proximity of the sacroiliac joint to the sacral nerve plexus results in septic sacroiliitis frequently presenting with symptoms mimicking intervertebral disc prolapse.
View Article and Find Full Text PDFProgress in the genetics and epigenetics of pelvic floor disorder.
Gene
January 2025
Hangzhou Women's Hospital, Hangzhou, Zhejiang, China. Electronic address:
Pelvic floor disorder (PFD) is a common gynecological disorder, and with the ageing of the population, PFD has a serious impact on the physical and mental health of patients and their quality of life. The most prominent of these are pelvic organ prolapse (POP) and urinary incontinence (UI), about which the etiology is still unclear, and it is urgent to explore their pathogenesis. Advances in genetics and epigenetics have provided new insights into the pathophysiology of PFD.
View Article and Find Full Text PDFMitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.
Can J Cardiol
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be'er Sheva, Israel; Genetics Institute, Soroka University Medical Center, Be'er Sheva, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel. Electronic address:
Background: Mitral valve prolapse (MVP) is a common cardiac valvular anomaly that can be caused by mutations in genes of various biological pathways. Individuals of three generations of a kindred presented with apparently dominant heredity of isolated MVP.
Methods: Clinical evaluation and echocardiography for all complying family members (n=13).
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