keyword
MENU ▼
Read by QxMD icon Read
search

Hypospadia

keyword
https://www.readbyqxmd.com/read/29473028/results-of-onlay-preputial-flap-urethroplasty-for-the-single-stage-repair-of-mid-and-proximal-hypospadias
#1
Ricardo González, Anja Lingnau, Barbara Magda Ludwikowski
Aims: To report current results of preputial flap onlay urethroplasty using the principle of the total preputial flap (TPF) for the one-stage repair of mid- and proximal hypospadias. Methods: This study was a retrospective chart review of patients in a prospectively kept database of all hypospadias operations performed at two institutions from January 1 2011 to August 2017. Inclusion criteria: all patients who underwent hypospadias repair using a preputial only flap urethroplasty based on the principle of the TPF...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29464676/further-evidence-of-the-association-of-the-diacylglycerol-kinase-kappa-dgkk-gene-with-hypospadias
#2
Kamil Konrad Hozyasz, Adrianna Mostowska, Andrzej Kowal, Dariusz Mydlak, Alexander Tsibulski, Pawel P Jagodzinski
PURPOSE: Hypospadias is a common developmental anomaly of the male external genitalia. In previous studies conducted on West European, Californian, and Han Chinese populations the relationship between polymorphic variants of the diacylglycerol kinase kappa (DGKK) gene and hypospadias have been reported. The aim was to study the possible associations between polymorphic variants of the DGKK gene and hypospadias using an independent sample of the Polish population. MATERIALS AND METHODS: Ten single nucleotide polymorphisms in DGKK, which were reported to have an impact on the risk of hypospadias in other populations, were genotyped using high-resolution melting curve analysis in a group of 166 boys with isolated anterior (66%) and middle (34%) forms of hypospadias and 285 properly matched controls without congenital anomalies...
February 18, 2018: Urology Journal
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#3
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29454629/postoperative-pain-and-analgesia-administration-in-children-after-urological-outpatient-procedures
#4
A Schröder, F A Campbell, W A Farhat, J L Pippi Salle, D J Bägli, A J Lorenzo, M A Koyle
INTRODUCTION: There are limited data about pain patterns, analgesic requirements and factors predicting opioid requirements of children undergoing outpatient urologic surgery. This prospective study aimed to assess recovery profiles and pain medication requirements. METHODS: Patients between 6 months and 12 years of age were recruited prospectively between December 2013 and June 2014. Demographic and operative characteristics were collected. Following discharge home, the parents were asked to administer both acetaminophen and ibuprofen Q6H at a weight-adjusted dose, based on a schedule, until the end of postoperative day 2, and to administer the medication as required on postoperative day 3...
January 31, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29452340/congenital-abnormalities-of-the-male-reproductive-system-and-risk-of-autism-spectrum-disorders
#5
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/29452336/invited-commentary-male-reproductive-system-congenital-malformations-and-the-risk-of-autism-spectrum-disorder
#6
Laura A Schieve, Stuart K Shapira
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29450693/the-effect-of-assisted-reproductive-technology-on-the-incidence-of-birth-defects-among-livebirths
#7
Gil Shechter-Maor, Nicholas Czuzoj-Shulman, Andrea R Spence, Haim Arie Abenhaim
PURPOSE: Our study objective is to examine the association between births conceived with assisted reproductive technology (ART) and birth defects using a large database from the United States. METHODS: Using the Centers for Disease Control and Prevention's Period-linked birth-infant death data files and fetal death database for 2011-2013, we conducted a retrospective cohort study comprised of live births that occurred in the USA during that time. Multivariate logistic regression was used to estimate the association between ART and birth defects, both overall and by specific defects...
February 15, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29446546/de-novo-variants-in-myelin-regulatory-factor-myrf-as-candidates-of-a-new-syndrome-of-cardiac-and-urogenital-anomalies
#8
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R Braddock, Aida Telegrafi, Kristin G Monaghan, Elaine Zackai, Elizabeth J Bhoj
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis...
February 15, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29441220/inheritance-of-a-balanced-t-12-20-q24-33-p12-2-and-unbalanced-der-13-t-7-13-p21-3-q33-2-from-a-maternally-derived-double-balanced-translocation-carrier
#9
Jess F Peterson, Gabrielle C Geddes, Donald G Basel, Dana Schippman, John W Grignon, Peter vanTuinen, Ulrike P Kappes
We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29420188/human-3beta-hydroxysteroid-dehydrogenase-deficiency-associated-with-normal-spermatic-numeration-despite-a-severe-enzyme-deficit
#10
Bruno Donadille, Muriel Houang, Irene Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. Its estimated prevalence is less than 1/1,000,000 male neonates. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available on adult testicular function in such patients. Therefore, we evaluated gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. The patient presented at birth with neonatal salt wasting syndrome, a micropenis, perineal hypospadias and intrascrotal testes...
February 2, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29416276/role-of-uroflowmetry-before-and-after-hypospadias-repair
#11
Rajat Piplani, Satish K Aggarwal, Simmi K Ratan
Aims: To study the role of uroflowmetry in the preoperative and early postoperative period in children undergoing hypospadias repair. Materials and Methods: Twenty-six cases undergoing hypospadias repair over 1 year (tubularized incised plate [TIP] Snodgrass [17 patients], TIP with Snodgraft [5 patients], Duckett's onlay flap [2 patients], and Duckett's tube [2 patients] urethroplasty) were prospectively evaluated with preoperative ultrasound and uroflowmetry and postoperative uroflowmetry at 3 months after the surgery and at 6 and 9 months interval if these dates fell within the study period on follow-up...
January 2018: Urology Annals
https://www.readbyqxmd.com/read/29398588/preliminary-report-surgical-outcomes-following-genitoplasty-in-children-with-moderate-to-severe-genital-atypia
#12
K J Bernabé, N J Nokoff, D Galan, D Felsen, C E Aston, P Austin, L Baskin, Y-M Chan, E Y Cheng, D A Diamond, R Ellens, A Fried, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, A M Delozier, L L Mullins, B Palmer, A Paradis, P Reddy, K J Scott Reyes, M Schulte, J M Swartz, E Yerkes, C Wolfe-Christensen, A B Wisniewski, D P Poppas
INTRODUCTION: Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. OBJECTIVE: The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia...
February 1, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29396778/fetal-valproate-syndrome-the-irish-experience
#13
Hamizah Mohd Yunos, Andrew Green
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge...
February 3, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29381913/the-hypospadias-classification-affected-the-surgical-outcomes-of-staged-oral-mucosa-graft-urethroplasty-in-hypospadias-reoperation-an-observational-study
#14
Dachao Zheng, Shi Fu, Wenji Li, Minkai Xie, Jianhua Guo, Haijun Yao, Zhong Wang
The staged graft urethroplasty is a recommended technique for repairing complex hypospadias. This retrospective study aimed to investigate the outcomes of this technique in hypospadias patients undergoing reoperation and to analyze the underlying contributing factors including age, meatus location, and graft and suture type.We retrospectively analyzed 40 hypospadias patients undergoing reoperation who received a staged oral graft urethroplasty, including 15 buccal mucosal grafts and 25 lingual mucosal grafts...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29378665/identification-of-novel-candidate-genes-for-46-xy-disorders-of-sex-development-dsd-using-a-c57bl-6j-y-pos-mouse-model
#15
Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E Segura, Ascia Eskin, Matthew S Bramble, Valerie A Arboleda, Ruth Baxter, Stanley F Nelson, Emmanuèle C Délot, Vincent Harley, Eric Vilain
BACKGROUND: Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia. In order to identify the underlying genetic etiology, we had performed exome sequencing in a subset of DSD cases with 46,XY karyotype and were able to identify the causative genetic variant in 35% of cases. While the genetic etiology was not ascertained in more than half of the cases, a large number of variants of unknown clinical significance (VUS) were identified in those exomes...
January 30, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29371155/sox2-not-always-eye-malformations-severe-genital-but-no-major-ocular-anomalies-in-a-female-patient-with-the-recurrent-c-70del20-variant
#16
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c...
January 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29352738/persistent-pain-following-common-outpatient-surgeries-in-children-a-multicenter-study-in-italy
#17
Valeria Mossetti, Karen Boretsky, Marinella Astuto, Bruno G Locatelli, David Zurakowski, Rodolfo Lio, Roberta Nicoletti, Valter Sonzogni, Micol Maffioletti, Noemi Vicchio, Giorgio Ivani
INTRODUCTION: The prevalence of persistent postsurgical pain in children is over 20% after major surgeries; however, data are scarce on the prevalence, character, and risk factors among children undergoing common ambulatory surgeries. The primary aim of this study was to evaluate the prevalence of persistent pain following pediatric ambulatory surgery at 1, 3, and 6 months. Secondary aims were to identify risk factors and characterize the pain and consequences of persistent postsurgical pain...
January 20, 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#18
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330019/parental-decisional-regret-and-views-about-optimal-timing-of-female-genital-restoration-surgery-in-congenital-adrenal-hyperplasia
#19
Konrad M Szymanski, Benjamin Whittam, Martin Kaefer, Heather Frady, Jessica T Casey, Vi T Tran, Mark P Cain, Richard C Rink
PURPOSE: The role of female genital restoration surgery (FGRS) in girls with congenital adrenal hyperplasia (CAH) is controversial, with no long-term parent-reported outcomes available. Decisional regret (DR) affects most parents after their children's treatment of pediatric conditions, including hypospadias. We aimed to assess parental DR after FGRS in infancy or toddlerhood and explore optimal timing for surgery. MATERIALS AND METHODS: One-hundred and six parents of females with CAH undergoing FGRS before 3 years old and followed at our institution (1999-2017) were invited to enroll online...
December 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#20
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
keyword
keyword
25912
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"