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https://www.readbyqxmd.com/read/29618007/subphenotype-meta-analysis-of-testicular-cancer-genome-wide-association-study-data-suggests-a-role-for-rbfox-family-genes-in-cryptorchidism-susceptibility
#1
Yanping Wang, Dione R Gray, Alan K Robbins, Erin L Crowgey, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Katherine Nathanson, Clare Turnbull, Zhaoming Wang, Marcella Devoto, Julia Spencer Barthold
STUDY QUESTION: Can subphenotype analysis of genome-wide association study (GWAS) data from subjects with testicular germ cell tumor (TGCT) provide insight into cryptorchidism (undescended testis, UDT) susceptibility? SUMMARY ANSWER: Suggestive intragenic GWAS signals common to UDT, TGCT case-case and TGCT case-control analyses occur in genes encoding RBFOX RNA-binding proteins (RBPs) and their neurodevelopmental targets. WHAT IS KNOWN ALREADY: UDT is a strong risk factor for TGCT, but while genetic risk factors for TGCT are well-known, genetic susceptibility to UDT is poorly understood and appears to be more complex...
March 29, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29601276/the-effect-of-a-hypnotic-based-animated-video-on-stress-and-pain-reduction-in-pediatric-surgery
#2
Zahi Arnon, Hosari Hanan, Jorge Mogilner
Presurgical stress and its negative influences on postsurgical recovery and pain are well documented in the medical literature. Hence, the reduction of stress is advisable. The present study aimed to reduce stress using a hypnotic-based animated video. Thirty children aged 3 to 16 years hospitalized for ambulatory surgery for undescended testes or umbilical/inguinal hernia were recruited for the study. They watched the video 1 time prior to surgery in the presence of their parents and reported their anxiety and pain pre- and postvideo watching on a visual analogue scale...
April 2018: International Journal of Clinical and Experimental Hypnosis
https://www.readbyqxmd.com/read/29581155/disorders-of-sex-development-timing-of-diagnosis-and-management-in-a-single-large-tertiary-center
#3
Ella Kohva, Päivi Miettinen, Seppo Taskinen, Matti Hero, Annika Tarkkanen, Taneli Raivio
BACKGROUND: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center. METHODS: DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts. RESULTS: Among the 550 DSD patients, 53...
March 26, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29574772/omental-calcification-necrotizing-enterocolitis-and-undescended-testes-after-fetal-abdomino-amniotic-shunting-performed-for-the-management-of-meconium-peritonitis-a-case-report
#4
Yun-Jung Lim, Hyun-Jin Jo, Mi Lim Chung
Prenatal ultrasonography (US) in a 39 year-old woman revealed massive fetal ascites. A fetal abdomino-amniotic shunting procedure was performed. Subsequently, plain radiographs demonstrated diffuse gaseous distention of the bowel and multiple punctate calcifications in the left upper abdomen. Postnatal US examination showed multiple echogenic foci in the liver and the left upper abdomen, bowel wall thickening in the right-sided abdomen, and undescended testes. There was no intra-abdominal free air or loculated fluid collections...
March 25, 2018: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/29511588/management-of-the-patients-with-persistent-m%C3%A3-llerian-duct-syndrome-is-the-ultimate-goal-testicular-descent
#5
Serpil Sancar, Esra Özçakır, Mete Kaya
Objective: Persistent Müllerian duct syndrome (PMDS) is a rare congenital disease characterized by the presence of rudimentary Müllerian structures within an intra-abdominal or hernial sac in a virilized male, often presenting as undescended testes. In this study, we aim to present a series of the PMDS patients who were managed by orchiopexy without removal of Müllerian remnants (MR). Material and methods: Between May 2010 and June 2017, we treated six cases diagnosed as PMDS in our department...
March 2018: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29453163/incidentally-discovered-persistent-m%C3%A3-llerian-duct-syndrome-in-a-45-year-old-male-presenting-with-germ-cell-tumor-and-bilateral-cryptorchidism-a-rare-case-report-and-review-of-the-literature
#6
Turki Z Al Harbi, Kareem Ayman Azzam, Ayman Azzam, Tarek Amin, Nasir Bakshi
INTRODUCTION: Persistent Müllerian Duct Syndrome (PMDS) is a rare sexual disease. It is characterized by the presence of female reproductive structures such as uterus, cervix, fallopian tubes and upper part of vagina in a normal genotypically and phenotypically male. The diagnosis is usually incidental since the patients will present with normal external genitalia and secondary sexual characteristics. Imaging techniques such as magnetic resonance imaging (MRI), computed tomography (CT) scan, or ultrasound (US) could help in the diagnosis...
February 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29452340/congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#7
Ran S Rotem, Gabriel Chodick, Michael Davidovitch, Russ Hauser, Brent A Coull, Marc G Weisskopf
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29429771/gonocyte-transformation-in-a-congenitally-cryptorchid-rat-is-normal-and-may-be-similar-to-the-situation-reported-in-human-acquired-cryptorchidism
#8
Moshe Loebenstein, John Hutson, Ruili Li
BACKGROUND: In congenital undescended testis (UDT) in humans, thermal insult damages early germ cell development during mini-puberty (3-6months) causing increased risk of both cancer and infertility. In rodents however, UDT causes infertility but not cancer. In the TS rat with congenital UDT we hypothesized that early germ cell development would be normal as UDT only becomes manifest at 3-4weeks (and the germ cells only become sensitive to thermal injury) after minipuberty is complete at 1week...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29401475/overexpression-of-ubiquitin-carboxyl-terminal-hydrolase-1-uchl1-in-boys-with-cryptorchidism
#9
Dorota Toliczenko-Bernatowicz, Ewa Matuszczak, Marzena Tylicka, Beata Szymańska, Marta Komarowska, Ewa Gorodkiewicz, Wojciech Debek, Adam Hermanowicz
BACKGROUND: The ubiquitin-proteasome system regulate p53, caspase and Bcl-2 family proteins, and is crucial for the degradation of the defective germ cells in testes. Purpose: to evaluate the concentration of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in the blood plasma of boys with cryptorchidism and if there is any correlation with patient age. METHODS: Patients-50 boys aged 1-4 years (median = 2,4y.) with unilateral cryptorchidism. Exclusion criteria were: previous human chorionic gonadotropin treatment, an abnormal karyotype, endocrine or immunological disorders or any long-term medication...
2018: PloS One
https://www.readbyqxmd.com/read/29369248/experience-of-using-shear-wave-elastography-imaging-in-evaluation-of-undescended-testes-in-children-feasibility-reproducibility-and-clinical-potential
#10
Mehmet Sedat Durmaz, Mesut Sivri, Tamer Sekmenli, Canan Kocaoğlu, İlhan Çiftçi
We aimed to determine the difference in tissue stiffness, which might reflect histologic damage, by comparing the potential of the shear wave elastography (SWE) values of operated undescended testes (OUT) with those of undescended testes (UT) and normal testes. A total of 120 patients (235 testes) were enrolled in the current study. Quantitative SWE values were measured by manually drawing contours of the entire testis structure with a free region of interest. A group of 66 OUT were classified as group A. Operation age and the period passed over the operation time and SWE values were compared among the testes assigned to group A...
January 23, 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29330774/a-collection-of-xy-female-cell-lines
#11
Fumio Kasai, Malcolm A Ferguson-Smith
Discordance between sexual phenotype and the 46,XY sex chromosome complement may be found in certain disorders of sexual development (DSD). Many of these DSD patients with female external genitalia and secondary sex characteristics have undescended testes and male internal genitalia. Causative mutations involving genes of the sex determining pathway, including the androgen receptor, SRY and the 5-alpha-reductase genes, are well-known, but the origin of other cases remain unresolved. In this report, we introduce our collection of lymphoblastoid lines derived from female patients with a 46,XY karyotype...
April 2018: Human Cell
https://www.readbyqxmd.com/read/29248966/comparison-of-superb-micro-vascular-imaging-smi-and-conventional-doppler-imaging-techniques-for-evaluating-testicular-blood-flow
#12
Mehmet Sedat Durmaz, Mesut Sivri
PURPOSE: Superb micro-vascular imaging (SMI) is a new blood flow (BF) technique recently developed to outface the limitations of conventional Doppler imaging techniques (CDIT). SMI can observe micro-vascular BF and low-velocity BF. SMI is available in two modes as color SMI (cSMI) and monochrome SMI (mSMI). To evaluate testicular BF, we have compared color Doppler (CD), power Doppler (PD), cSMI, and mSMI techniques. PATIENTS AND METHODS: A total of 156 patients (310 testes) were included in the study...
December 16, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/29243340/testicular-sperm-extraction-after-laparoscopic-orchiectomy-for-bilateral-postpubertal-intra-abdominal-cryptorchidism-what-chance-of-sperm-retrieval
#13
G Cito, P A Della Camera, S Degli Innocenti, M E Coccia, G Nesi, A Cocci, S Morselli, A Minervini, M Carini, M Serni, M Gacci, A Natali
Infertility occurs in up to 54% of men with bilateral undescended testes. Orchiectomy is considered the best therapeutic approach, especially when cryptorchidism is diagnosed in adulthood, due to a high risk of malignancy. A 33-year-old man was referred with a clinical presentation of empty scrotum and an ultrasonography and magnetic resonance imaging evaluation of intra-abdominal bilateral cryptorchidism. Follicle-stimulating hormone was 23.20 IU/L, luteinising hormone was 14.10 IU/L, total testosterone was 12...
March 2018: Andrologia
https://www.readbyqxmd.com/read/29236968/use-of-ultrasound-for-the-palpable-undescended-testis-a-wasteful-practice
#14
Carolyn Wayne, Luis A Guerra, Jiefei Yao, Mélise A Keays, Michael P Leonard
Background: Many primary care physicians order an ultrasound (US) before referral to specialist care for suspected undescended testis; however, the value of this practice is questionable. Objective: To determine the proportion of boys referred for suspected undescended testis who had accompanying US, the cost of this practice and the accuracy of US for testis localization when compared with physical examination by a pediatric urologist. Methods: This was a retrospective chart review at a pediatric urology service, including all patients referred for suspected undescended testis from 2008 to 2012...
December 10, 2017: Family Practice
https://www.readbyqxmd.com/read/29202353/giant-interparietal-inguinal-hernia-with-undescended-testis-a-rare-case-report
#15
Anil Kumar, Shiv Shankar Paswan, Anita Paswan, Rekha Kumari, Vimal Bhandari
INTRODUCTION: An interparietal inguinal hernia is a rare form of hernia. In this type of hernia, the sac passes between the layers of the abdominal wall of the inguinal canal area. Although its treatment is very simple but pre-operative diagnosis is really a challenging issue. PRESENTATION OF CASE: A 62 years old male patient presented with complaint of a large swelling over right lower abdomen with absence of right testes since birth. The lump was measured 26×22cm in size...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29201487/primary-malignancy-in-a-supernumerary-testicle-presenting-as-a-large-pelvic-mass
#16
Justin Noroozian, Daniel Farishta, Daniel Ballow, Joseph Sonstein, Eduardo Orihuela, Eduardo Eyzaguirre
Supernumerary testis, also known as polyorchidism, is a condition characterized by the presence of more than two testes. Another condition of the testes is seminoma, a common cause of testicular germ cell tumor. A 35-year-old male was transferred to our hospital with a diagnosis of abdominal mass causing abdominal pain. On physical exam, he had a palpable undescended left testicle in the left inguinal canal, which was determined to be seminoma. The mass was surgically removed, and the patient underwent chemotherapy...
2017: Case Reports in Urology
https://www.readbyqxmd.com/read/29199091/nonpalpable-testes-ultrasound-and-contralateral-testicular-hypertrophy-predict-the-surgical-access-avoiding-unnecessary-laparoscopy
#17
Christoph Berger, Bernhard Haid, Tanja Becker, Mark Koen, Judith Roesch, Josef Oswald
INTRODUCTION: In up to 20% of patients presenting with undescended testes, one or both are non-palpable. Whereas the most reliable means to exclude an abdominal testis is laparoscopy, there has been a lot of debate about the role of inguinal ultrasound (US) in detecting non-palpable inguinal testis. While we do not aim to add another paper claiming the benefits of US, we wanted to determine the excess capability of US to determine the correct surgical approach - inguinal or laparoscopy...
November 30, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29198187/unusual-presentation-of-prune-belly-syndrome-a-case-report
#18
Abayneh Girma Demisse, Ashenafi Berhanu, Temesgen Tadesse
BACKGROUND: Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia...
December 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29197914/testicular-volume-and-elasticity-changes-in-young-children-with-undescended-testes
#19
Hyun Joo Shin, Yong Seung Lee, Haesung Yoon, Myung-Joon Kim, Sang Won Han, Ha Yan Kim, Jinae Lee, Mi-Jung Lee
AIMS: To evaluate the differences and changes of testicular volume and elasticity in normal (NL) testes and undescended testes (UDTs) of children using shear wave elastography (SWE). MATERIALS AND METHODS: Testicular ultrasound images from children younger than 60 months old were retrospectively reviewed. Testicular volumes and elasticities were compared between the UDT group and NL group. In patients with unilateral UDT (uUDT), we also compared the values between uUDT and contralateral grossly normal (CGN) testis groups...
November 29, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/29137935/prostatic-adenocarcinoma-in-the-setting-of-persistent-m%C3%A3-llerian-duct-syndrome-a-case-report
#20
Zulfia McCroskey, Tracie M Koen, David J Lim, Mukul K Divatia, Steven S Shen, Alberto G Ayala, Jae Y Ro
Persistent Müllerian Duct Syndrome (PMDS) is a form of disordered sex development in which rudimentary Müllerian structures are identified in phenotypically and genotypically normal males. It is caused by defects in the anti-Müllerian hormone (AMH) system. Since patients with PMDS present with undescended testes, testosterone production by Leydig cells later in life is often decreased. The role of androgens in prostate cancerogenesis is well known. Cryptorchid testes and diminished testosterone levels in post pubertal life in patients with PMDS play a protective role against prostate cancer, and hence, prostate cancer is a rare event in patients with PMDS...
November 11, 2017: Human Pathology
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