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https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#1
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29043694/-long-term-results-of-hypospadias-surgery-urinary-and-sexual-function-and-psychological-impact
#2
J Rojas-Ticona, G Zambudio Carmona, L Delmas Benito, M Fernández-Ibieta, P Y Reyes Ríos, I Martínez Castaño, V Villamil, A Sánchez Sánchez, M J Guirao Piñera, J I Ruiz Jiménez
OBJECTIVES: To determine the current status of the patients operated on for hypospadias in our region, in order to adapt the surgical technique to their real needs. MATERIAL AND METHODS: A descriptive and observational study. Interviews were conducted with hypospadias surgery patients in our hospital between 1976 and 1996, focusing on their urinary and sexual function and psychological impact. We performed a descriptive statistical analysis and comparisons between types of hypospadias (SPSSv19)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29041822/when-i-do-i-become-someone-experiences-of-occupational-performance-in-young-adults-with-cerebral-palsy
#3
Lena Bergqvist, Ann-Marie Öhrvall, Kate Himmelmann, Marie Peny-Dahlstrand
PURPOSE: Persons with cerebral palsy, even if they have relatively good motor functions, have a lower level of independence and participation in everyday activities than persons of the same age without disabilities. However, there are few descriptions of how persons with cerebral palsy themselves perceive their performance of activities in everyday life. The aim of this study was to describe the perceptions that young adults with cerebral palsy have of occupational performance in everyday life...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29037457/epidemiology-and-burden-of-hpv-related-disease
#4
REVIEW
Beatriz Serrano, María Brotons, Francesc Xavier Bosch, Laia Bruni
Human papillomavirus (HPV) infection is recognized as one of the major causes of infection-related cancer in both men and women. High-risk HPV types are not only responsible for virtually all cervical cancer cases but also for a fraction of cancers of the vulva, vagina, penis, anus, and head and neck cancers. Furthermore, HPV is also the cause of anogenital warts and recurrent respiratory papillomatosis. Despite the availability of multiple preventative strategies, HPV-related cancer remains a leading cause of morbi-mortality in many parts of the world, particularly in less developed countries...
September 2, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29037233/cancer-incidence-in-germany-attributable-to-human-papillomavirus-in-2013
#5
Nina Buttmann-Schweiger, Yvonne Deleré, Stefanie J Klug, Klaus Kraywinkel
BACKGROUND: It is estimated that a total of 120,000 new cancer cases in men and in women in more developed countries could be avoided if exposure to HPV was prevented. We used the nationwide pool of German population-based cancer registry data to estimate the burden of HPV-attributable cancer in this population for the year 2013. METHODS: Incident cases of cervical cancer, squamous cell carcinoma of the anus, oropharynx (OP), as well as of the vulva, vagina and penis were classified as potentially HPV-associated and identified from the nationwide cancer registry data-pool...
October 16, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29036558/methrafo-medip-seq-methylation-estimate-using-a-random-forest-regressor
#6
Jun Ding, Ziv Bar-Joseph
Motivation: Profiling of genome wide DNA methylation is now routinely performed when studying development, cancer and several other biological processes. Although Whole genome Bisulfite Sequencing provides high-quality methylation measurements at the resolution of nucleotides, it is relatively costly and so several studies have used alternative methods for such profiling. One of the most widely used low cost alternatives is MeDIP-Seq. However, MeDIP-Seq is biased for CpG enriched regions and thus its results need to be corrected in order to determine accurate methylation levels...
July 13, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29032883/evaluating-the-accuracy-of-intraoperative-frozen-section-during-inguinal-lymph-node-dissection-in-penile-cancer
#7
Juan Chipollini, Dominic H Tang, Neil Manimala, Scott M Gilbert, Julio M Pow-Sang, Wade J Sexton, Michael A Poch, Philippe E Spiess
INTRODUCTION: Inguinal lymph node dissection is an integral part in the management of invasive penile tumors with intraoperative assessment often aiding decision-making during dissection. In this study, we evaluate the diagnostic value of intraoperative frozen section (FS) and analyze clinicopathologic factors that affect its accuracy. MATERIAL AND METHODS: We, retrospectively, reviewed 84 patients with squamous cell carcinoma of the penis who underwent inguinal lymph node dissection at our institution...
October 9, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/29024082/paraneoplastic-bullous-pemphigoid-associated-with-penile-squamous-cell-carcinoma
#8
Anuradha Bishnoi, Tarun Narang, Sanjeev Handa, Vikarn Vishwajeet, Uma Nahar Saikia, Rakesh Kapoor, Ravimohan S Mavuduru
A 43-year-old farmer presented to us for evaluation of multiple, itchy, tense vesicles and bullae, containing clear to hemorrhagic fluid, surmounting an urticarial background on his thighs and inguinal area for 20-days (Figure 1a). He was also undergoing evaluation for bilateral metastatic inguinal lymphadenopathy detected 3 months back that had revealed squamous cell carcinoma on cytology. Search for primary was still on. Genital examination incidentally revealed a bright red, well-defined, verrucous plaque on glans penis (Figure 1b)...
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29021172/genital-interactions-during-simulated-copulation-among-marine-mammals
#9
Dara N Orbach, Diane A Kelly, Mauricio Solano, Patricia L R Brennan
Genitalia are morphologically variable across many taxa and in physical contact during intromission, but little is known about how variation in form correlates with function during copulation. Marine mammals offer important insights into the evolutionary forces that act on genital morphology because they have diverse genitalia and are adapted to aquatic living and mating. Cetaceans have a fibroelastic penis and muscular vaginal folds, while pinnipeds have a baculum and lack vaginal folds. We examined copulatory fit in naturally deceased marine mammals to identify anatomical landmarks in contact during copulation and the potential depth of penile penetration into the vagina...
October 11, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29019335/leiomyosarcoma-of-penis-an-aggressive-and-exceptionally-rare-entity
#10
Vinita Trivedi, Muneer A, Rita Rani, Richa Chauhan, Usha Singh, Naveen Kuna
Penile leiomyosarcoma is a very rare disease of penile mesenchymal tissue, most of them are of vascular origin and pathologically classified into the superficial and deep type. Because of the small number of cases reported so far, the conclusions about treatment and prognosis are equivocal. Here we report a case of 40-year old patient who presented with leiomyosracoma of penis; despite adequate surgery patient developed local recurrence and distant metastasis indicating aggressive nature of leiomyosarcoma entity of penis...
September 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/29017517/traumatic-penile-amputation-a-case-report
#11
Tushar Patial, Girish Sharma, Pamposh Raina
BACKGROUND: Traumatic amputation of the penis is a rare surgical emergency. Although repair techniques have been well described in literature, failure of replantation and its causes are poorly understood and reported. Herein, we report the case of a 9 year old boy who underwent replantation of his amputated penis with delayed failure of the surgery, along with a discussion of recent advances in the management of this condition. CASE  PRESENTATION: A 9-year-old boy was referred to our hospital for traumatic amputation of the penis...
October 10, 2017: BMC Urology
https://www.readbyqxmd.com/read/29016638/penile-coital-injuries-in-men-decline-after-circumcision-results-from-a-prospective-study-of-recently-circumcised-and-uncircumcised-men-in-western-kenya
#12
Nelli Westercamp, Supriya D Mehta, Walter Jaoko, Timothy A Okeyo, Robert C Bailey
BACKGROUND: Penile coital injuries are one of the suggested mechanisms behind the increased risk of HIV among uncircumcised men. We evaluated the prevalence and correlates of self-reported penile coital injuries in a longitudinal community-based cohort of young (18-24 years old), newly circumcised and uncircumcised men in Western Kenya. METHODS: Self-reported penile coital injuries were assessed at baseline, 6, 12, 18 and 24 months of follow-up, and were defined as scratches, cuts or abrasions during sex, penile soreness during sex, and skin of the penis bleeding during sex...
2017: PloS One
https://www.readbyqxmd.com/read/29016354/congenital-cataract-with-lss-gene-mutations-a-new-case-report
#13
Xiaodan Chen, Li Liu
BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited. CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues...
October 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28992904/submucosal-collagen-injection-for-management-of-urinary-incontinence-following-urethral-stent-placement
#14
Scott Kilpatrick, Tracy Hill
An 8-year-old, entire, male British Bulldog was referred for a week-long history of severe stranguria and dysuria. A prostatic wash was diagnostic of prostatic carcinoma. A transluminal urethral stent was placed in the proximal urethra, which resulted in resolution of the urinary obstruction, however, the dog developed severe urinary incontinence after the procedure. Cystoscopically-guided submucosal collagen injections were performed immediately proximal to the os penis. The dog's incontinence resolved with a single collagen injection for the 10-month follow-up period...
June 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28986092/population-based-hpv-vaccination-programmes-are-safe-and-effective-2017-update-and-the-impetus-for-achieving-better-global-coverage
#15
REVIEW
Julia M L Brotherton, Paul N Bloem
Persistent oncogenic human papillomavirus (HPV) is the cause of cervical cancer, as well as cancers of the anus, penis, vulva, vagina and oropharynx. There is good evidence that prophylactic HPV vaccines are immunogenic and effective against targeted-type HPV infections and type-specific genital lesions, including high-grade cervical intraepithelial neoplasia (CIN), when administered prior to HPV infection. There is good evidence that HPV vaccines are safe in population usage, with the most frequent adverse event being injection-site reactions...
September 6, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28982621/novel-use-of-fluorescence-lymphangiography-during-robotic-groin-dissection-for-penile-cancer
#16
Marc A Bjurlin, Lee C Zhao, Alexander P Kenigsberg, Alon Y Mass, Samir S Taneja, William C Huang
OBJECTIVE: To describe a novel technique of robotic inguinal lymphadenectomy with near infrared fluorescence imaging (NIRF) using indocyanine green (ICG) to facilitate lymph node identification during robotic groin dissection for penile cancer. MATERIALS AND METHODS: The patient is placed in lithotomy position with access to the groin. Three robotic ports and 1 assist port are placed in a V configuration below the tip of femoral triangle. Intradermal ICG is injected at the base of the penis (0...
September 2017: Urology
https://www.readbyqxmd.com/read/28982617/ointment-fistulography-introducing-a-novel-technique-for-single-or-multiple-urethrocutaneous-fistula-diagnosis-after-hypospadias-surgery
#17
Sarah Mozafarpour, Abdol-Mohammad Kajbafzadeh, Reza Abbasioun, Ali Akbar Habibi, Behnam Nabavizadeh
INTRODUCTION AND OBJECTIVE: Hypospadias is a common congenital malformation of the male genital tract. The most frequent complication after hypospadias repair is urethrocutaneous fistula.(1) Its incidence has been reported up to 35% worldwide.(2) The diagnosis of these fistulas is sometimes challenging particularly with tiny and multiple fistulas. Usually, parents complain of urinary spraying, sprinkling, or passing a single stream of urine from the undersurface of the penis after the surgery...
August 2017: Urology
https://www.readbyqxmd.com/read/28982169/the-effect-of-cavernous-nerve-traction-on-erectile-function-in-rats
#18
Hao Li, Liping Chen, Tao Wang, Shaogang Wang, Jihong Liu
We performed this study to evaluate the effect of cavernous nerve (CN) traction on erectile function in rats. Thirty-two 8- week-old Sprague-Dawley rats were divided into four groups: control, 1-minute CN traction, 2-minute CN traction, and 2-minute CN crush. CN traction was performed using a glass hook with a tensile force of 0.2 Newton. One month later, the mean arterial pressure (MAP) and intracavernosal pressure (ICP) in response to CN stimulation were measured to assess erectile function. The penis and major pelvic ganglion (MPG) were harvested to explore the expression of neuronal nitric oxide synthase (nNOS) and neurofilament, fibrosis and apoptosis...
2017: PloS One
https://www.readbyqxmd.com/read/28979612/-rupture-of-the-albuginea-of-the-corpora-cavernosa
#19
Hamza Dergamoun, Zayd El Boukili El Makhoukhi
The fractures of the penis are rare in our context and are most often secondary to false penile fracture. A more common cause has been described in the countries of the Middle East where people interrupt the erection due to a violent bending of their penis called "Taqaandan". We here report the case of a 21-year old patient with no particular previous history, presenting to the emergency department at the Medical Center Avicenna with pain and deformation of the penis following "Taqaandan" manoeuvre. After having heard a click the patient felt pain and had violent detumescence without associated urinary problems, thus excluding urethral involvement...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28972681/surgical-management-of-penile-carcinoma-in-situ-results-from-an-international-collaborative-study-and-review-of-the-literature
#20
Juan Chipollini, Sylvia Yan, Sarah R Ottenhof, Yao Zhu, Désirée Draeger, Adam S Baumgarten, Dominic H Tang, Chris Protzel, Ding-Wei Ye, Oliver W Hakenberg, Simon Horenblas, Nicholas A Watkin, Philippe E Spiess
OBJECTIVES: To evaluate recurrence after penile sparing surgery (PSS) in the management of carcinoma-in-situ (CIS) of the penis in a large multicenter cohort of patients. PATIENTS AND METHODS: We identified consecutive patients from 5 major, academic centers treated from June 1986 to November 2014 who underwent PSS for pathologically proven penile CIS. Primary outcome was local recurrence free survival (RFS) and estimated using the Kaplan-Meier method. RESULTS: A total of 205 patients were identified...
October 3, 2017: BJU International
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