With continued improvements in medical care and surgical reconstruction, more patients with classic bladder exstrophy (CBE) are living into adulthood, than ever before. With improved survival, a greater emphasis on adult issues and improving quality of life (QOL) for these individuals is of increasing importance. This review aims to summarize data on long-term considerations for the adult with exstrophy and to highlight areas of future research and collaboration. Key conclusions are that continence or dryness are achievable alongside the ability to enjoy sexual relationships and a good quality of life.
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http://dx.doi.org/10.1016/j.jpurol.2023.06.028 | DOI Listing |
J Med Ultrasound
April 2024
Department of Pathology, INHS Asvini, Mumbai, Maharashtra, India.
The case pertains to a 29-year-old male who presented with epigastric pain at the hospital. On evaluation, he was sonographically detected to have "comet tail" reverberation artifacts involving the echogenic floaters in the lumen of the urinary bladder. The patient was subsequently diagnosed with Type V hyperlipidemia and acute pancreatitis.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFOrthop Surg
January 2025
Department of Orthopedics, Ningbo No. 6 Hospital, Ningbo, Zhejiang, China.
Background: Postoperative spinal epidural hematoma (SEH) is a rare but serious complication following lumbar surgery, with cauda equina syndrome (CES) being one of its most devastating outcomes. While CES typically presents with a combination of bladder and/or bowel dysfunction, diminished sensation in the saddle area, and motor or sensory changes in the lower limbs, atypical cases with isolated urinary symptoms are less recognized and pose significant diagnostic challenges.
Case Presentation: We report the case of a 46-year-old male who developed CES following lumbar microdiscectomy, presenting solely with urinary retention, without the classic signs of lower limb weakness or perineal sensory loss.
Zhongguo Zhen Jiu
January 2025
Second Department of Acupuncture and Moxibustion, First Affiliated Hospital of Heilongjiang University of CM, Harbin 150040.
Objective: To analyze the disease patterns and acupoint selection characteristics of acupuncture for epilepsy in ancient acupuncture texts, providing references and ideas for clinical acupuncture treatment of epilepsy.
Methods: Texts from the (5th edition) regarding acupuncture for epilepsy are reviewed. The frequency of acupoints, meridian association, distribution, specific points, corresponding epilepsy subtypes, and needling techniques are statistically analyzed.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
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