keyword
https://read.qxmd.com/read/38643654/oies-complex-diagnosed-by-in-utero-ultrasound-a-case-report
#1
Amal Cherkaoui, Sara Tossi, Aicha Gotni, Asmaa Assal, Mohamed Jalal, Amine Lamrissi
INTRODUCTION AND IMPORTANCE: OEIS complex is a rare and complex anomaly of the genitourinary and intestinal tract. It includes Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects. PRESENTATION OF CASE: We are reporting a case of OEIS complex. CLINICAL DISCUSSION: Cloacal exstrophy is considered the most severe ventral abdominal wall defect. Diagnosis is primarily antenatal based on the presenting features on ultrasonography...
April 20, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38641829/kidney-and-urogenital-abnormalities-in-down-syndrome-a-meta-analysis
#2
JOURNAL ARTICLE
Caterina Maria Rossetti, Giacomo D Simonetti, Mario G Bianchetti, Sebastiano A G Lava, Giorgio Treglia, Carlo Agostoni, Gregorio P Milani, J Peter de Winter
BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size)...
April 20, 2024: Italian Journal of Pediatrics
https://read.qxmd.com/read/38639958/-progress-of-physical-therapy-for-chronic-prostatitis-chronic-pelvic-pain-syndrome
#3
JOURNAL ARTICLE
Lei Wang, Ming-Wei Zhan, Xue-Jun Shang
Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), as a common male urogenital system disease, has made significant progress in the field of physical therapy in recent years. With the characteristics of non-invasiveness, low side effects, clear effectiveness and high patient compliance, physical therapy has gradually become one of the vital methods for the treatment of CP/CPPS. In the physical therapy of chronic prostatitis, the commonly used methods mainly include prostate massage, biofeedback, magnetic therapy, ultrasound and shock wave therapy, hyperthermia, acupuncture and electrophysiological therapy...
December 2023: Zhonghua Nan Ke Xue, National Journal of Andrology
https://read.qxmd.com/read/38631940/long-term-outcome-of-gender-assignment-in-individuals-with-46-xy-dsd-assigned-female-sex-in-multicultural-society
#4
JOURNAL ARTICLE
Binyamin B Neeman, Jawdat Jaber, Stanislav Kocherov, Floris Levy-Khademi, Amicur Farkas, Boris Chertin
BACKGROUND: The decision regarding sex rearing in patients with Disorders of Sex Development (DSD) is heavily connected to the shared decision-making model within multidisciplinary team. Some of these patients might develop gender dysphoria, when they become adults. We have aimed to evaluate the long-term outcomes of patients with XY DSD who underwent female gender assignment at our center. METHODS: We have conducted a retrospective study of all 46, XY DSD patients who underwent female assignment in our institution over the last 30 years...
April 10, 2024: Journal of Pediatric Urology
https://read.qxmd.com/read/38609778/novel-minimally-invasive-abdominoplasty-for-selected-cases-of-prune-belly-syndrome-step-by-step-technique-description-and-clinical-indications
#5
JOURNAL ARTICLE
Roberto Iglesias Lopes, Afonso da Silva Alves Bento, Romulo Dos Santos Sobreira Nunes, Rafael Nascimento Vilares, Jéssica Goulart Pereira, Bruno Nicolino Cezarino, Francisco Tibor Dénes
BACKGROUND: Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, bilateral undescended testicles and genitourinary tract anomalies. A variable spectrum of abdominal wall laxity is observed in PBS. We present the first case of a novel technique using a minimally invasive abdominoplasty to specifically address patients with localized abdominal wall weakness in PBS. CASE PRESENTATION: A two-years-old child with PBS presented with recurrent febrile urinary tract infections...
April 5, 2024: Journal of Pediatric Urology
https://read.qxmd.com/read/38586679/aerococcus-urinae-infection-causing-malodorous-urine-in-a-child-a-case-report
#6
Rajesh Dudani, Amani Qasem, Kingsley Udom
Aerococcus urinae  ( A. urinae ) infection, primarily observed in elderly patients, is a rare yet emerging occurrence in the pediatric population. Advances in laboratory techniques have facilitated the increased identification of these bacteria in human infections. There have been only a few recent cases reported among children. The scarcity of literature on the clinical presentation and management of such infections in children presents a challenge for pediatricians. Here, we present the case of a 15-month-old male child with Down syndrome who presented with malodorous urine but lacked other typical symptoms of urinary tract infection...
March 2024: Curēus
https://read.qxmd.com/read/38582728/prevalence-of-and-factors-associated-with-burnout-in-pediatric-urology-fellows
#7
JOURNAL ARTICLE
Emily A Reeson, Daniel Salevitz, Bernice Alcanzo, Chung Yon Lin, Gwen M Grimsby
INTRODUCTION: The 2016 AUA census found 39% of practicing urologists experienced burnout. Burnout is a syndrome of emotional exhaustion, depersonalization, and decreased feelings of personal accomplishment due to workplace stress. Despite the demands of training, little is known about the prevalence of burnout in pediatric urology fellows. OBJECTIVE: To determine the prevalence of burnout in pediatric urology fellows and factors associated with higher levels of burnout...
March 18, 2024: Journal of Pediatric Urology
https://read.qxmd.com/read/38553529/predictors-of-non-persistence-in-women-with-overactive-bladder-syndrome
#8
JOURNAL ARTICLE
Sheng-Mou Hsiao
Persistence is important for the success in the treatment of women with overactive bladder syndrome (OAB). We aimed to identify the predictors of non-persistence in women with OAB after first-line medical treatment. All consecutive women with OAB (n = 608), who underwent urodynamic studies and received first-line medical treatment (5 mg of solifenacin or 25 mg of mirabegron per day) in a referral medical center, were reviewed. Mirabegron (hazard ratio [HR] = 0.711) was associated with a higher persistence rate, compared to solifenacin...
March 29, 2024: Scientific Reports
https://read.qxmd.com/read/38552818/safety-testing-of-ovaprene-an-investigational-non-hormonal-monthly-vaginal-contraceptive
#9
JOURNAL ARTICLE
Christine Mauck, Andrea Thurman, Jeffrey T Jensen, Courtney A Schreiber, Jeff Baker, Melody Y Hou, Steven Chavoustie, Clint Dart, Hongsheng Wu, Jacques Ravel, Pawel Gajer, Betsy C Herold, Terry Jacot, Nadene Zack, Jessica Hatheway, Dave Friend
OBJECTIVE: Evaluate safety of Ovaprene, an investigational non-hormonal vaginal contraceptive designed for monthly use. STUDY DESIGN: Open-label, multicenter study enrolling heterosexually-active women with previous permanent contraception who underwent assessments during five menstrual cycles: baseline postcoital test cycle, diaphragm postcoital test cycle, Ovaprene safety cycle, and two Ovaprene postcoital test cycles. Safety outcomes included treatment emergent adverse events (TEAEs), systemic laboratory findings, pelvic examinations, colposcopies, Nugent scores, determination of community state types of vaginal microbiota, and anti-Escherichia coli activity and inflammatory markers in cervicovaginal fluids...
March 27, 2024: Contraception
https://read.qxmd.com/read/38547923/-myrf-mutation-leads-to-a-single-manifestation-of-sexual-development-and-mimics-partial-androgen-insensitivity-syndrome-a-case-report-and-literature-review
#10
JOURNAL ARTICLE
Duoduo Zhang, Qinjie Tian
OBJECTIVE: To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation. METHODS: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS). RESULTS: On examination, the patient's vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism...
March 15, 2024: Gynecological Endocrinology
https://read.qxmd.com/read/38534022/correction-to-setting-up-a-multi-disciplinary-klinefelter-syndrome-clinic-lessons-learnt-and-shared-by-s-rintoul-hoad-et%C3%A2-al
#11
(no author information available yet)
No abstract text is available yet for this article.
March 27, 2024: BJU International
https://read.qxmd.com/read/38532895/cryptorchidism-and-puberty
#12
REVIEW
Wiwat Rodprasert, Helena E Virtanen, Jorma Toppari
Cryptorchidism is the condition in which one or both testes have not descended adequately into the scrotum. The congenital form of cryptorchidism is one of the most prevalent urogenital anomalies in male newborns. In the acquired form of cryptorchidism, the testis that was previously descended normally is no longer located in the scrotum. Cryptorchidism is associated with an increased risk of infertility and testicular germ cell tumors. However, data on pubertal progression are less well-established because of the limited number of studies...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38529421/study-of-vulvovaginal-atrophy-and-genitourinary-syndrome-of-menopause-and-its-impact-on-the-quality-of-life-of-postmenopausal-women-in-central-india
#13
JOURNAL ARTICLE
Samiksha C Ulhe, Neema Acharya, Aarav Vats, Awantika Singh
Background Urogenital health is a necessary part of health for all women, especially in the postmenopausal age group. We suspected that the increased incidence of vulvovaginal atrophy (VVA) had some or other effects on the quality of life of older women. So, we aimed to study VVA/genitourinary syndrome of menopause (GSM) and its impact on the quality of life of postmenopausal women in Central India. Despite its significant prevalence and detrimental impact on women's health, VVA/GSM is underdiagnosed and undertreated...
February 2024: Curēus
https://read.qxmd.com/read/38494470/dysautonomia-in-anti-hu-paraneoplastic-neurological-syndromes
#14
JOURNAL ARTICLE
Macarena Villagrán-García, Antonio Farina, Joaquín Arzalluz-Luque, Lucia Campetella, Sergio Muñiz-Castrillo, Marie Benaiteau, Elise Peter, Pauline Dumez, Valentin Wucher, Maroua Dhairi, Géraldine Picard, Marie Rafiq, Dimitri Psimaras, Véronique Rogemond, Bastien Joubert, Jérôme Honnorat
BACKGROUND AND OBJECTIVES: Dysautonomia has been associated with paraneoplastic neurological syndrome (PNS)-related mortality in anti-Hu PNS, but its frequency and spectrum remain ill-defined. We describe anti-Hu patients with dysautonomia, estimate its frequency, and compare them to patients without dysautonomia. METHODS: Patients with anti-Hu antibodies diagnosed in the study centre (1990-2022) were retrospectively reviewed; those with autonomic signs and symptoms were identified...
March 17, 2024: Journal of Neurology
https://read.qxmd.com/read/38488284/myrf-a-unique-transmembrane-transcription-factor-from-proteolytic-self-processing-to-its-multifaceted-roles-in-animal-development
#15
REVIEW
Yingchuan B Qi, Zhimin Xu, Shiqian Shen, Zhao Wang, Zhizhi Wang
The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond the well-established role in myelination. Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans causes MYRF-related Cardiac Urogenital Syndrome, underscoring its importance in animal development; however, these mechanisms are largely unexplored...
March 15, 2024: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://read.qxmd.com/read/38479558/olsler-weber-rendu-syndrome
#16
JOURNAL ARTICLE
Luis Gabriel Vázquez-Lavista, Valeria González-Ramos, Marcela Janka-Zires, José Arturo Ramírez-Muciño, Fania Arroyo-Ortiz
No abstract text is available yet for this article.
March 11, 2024: Urology
https://read.qxmd.com/read/38469267/global-regional-and-national-burdens-of-reproduction-related-congenital-birth-defects-1990-2019
#17
JOURNAL ARTICLE
Lin Shen, Jie Li, Hanwang Zhang, Yiqing Zhao
BACKGROUND: Reproduction-related congenital birth defects (RCBDs), including Klinefelter syndrome (KS), Turner syndrome (TS), and urogenital congenital anomalies (UCA), can lead to severe physical and psychosocial disorders. The global impact of RCBDs on children and adults is unknown, which limits high-quality development of populations and increases in life expectancy per capita . METHODS: Annual incidence rates, prevalence rates (PR), and disability-adjusted life year (DALY) rates were collected for KS, TS, and UCA for 204 countries and territories, including at birth, for children younger than 1 year, and age-standardized (AS) for all ages...
2024: Frontiers in Public Health
https://read.qxmd.com/read/38461587/youssef-s-syndrome-a-rare-complication-of-caesarean-section-a-case-report
#18
Hamidou Soumana Diaouga, Maimouna Chaibou Yacouba, Rahamatou Madeleine Garba, Issa Salifou, Maman Sani Ousmane Manzo, Madi Nayama
INTRODUCTION AND IMPORTANCE: Youssef's syndrome or vesico-uterine fistula is an abnormal communication between the bladder and the uterus. It complicating of dystocic delivery, caesarean section and uterine rupture. The prevalence is globally 1-4 % of all obstetric fistulas. In Niger, it accounts for 6.4 % of iatrogenic urogenital fistulas. The best treatment is transvesical or transperitoneal surgery to close the bladder and uterus separately, with or without retaining the uterus...
March 9, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38451296/incidence-of-tethered-cord-syndrome-in-neurofibromatosis-types-1-and-2-pediatric-patients-a-population-level-analysis
#19
JOURNAL ARTICLE
Debarati Bhanja, Zachary Freedman, Bao Y Sciscent, Camille Moeckel, Lekhaj Daggubati, Elias Rizk
PURPOSE: Tethered spinal cord syndrome (TCS) is characterized by cutaneous attachments on the filum terminale that stretch the spinal cord, leading to musculoskeletal and urogenital sequelae. While the neurocutaneous associations with TCS remain undefined, a recent study reports a high incidence of TCS among a pediatric neurofibromatosis (NF) cohort. This present study utilizes a population-level database to estimate TCS incidence among pediatric patients with neurofibromatosis types 1 and 2 (NF1, NF2)...
March 7, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38450833/lumbar-syndrome-oeis-complex-overlap-a-case-series-and-review
#20
L Barrios, S Chamlin, Kim M Keppler-Noreuil, K L Rialon, Paul Austin, A Alhajjat, D Bowen, Denise W Metry, D H Siegel
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis...
March 7, 2024: American Journal of Medical Genetics. Part A
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