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Long-term follow-up of children who underwent severe hypospadias repair using an online survey with validated questionnaires.
Fraumann SA, Stephany HA, Clayton DB, Thomas JC, Pope JC, Adams MC, Brock JW, Tanaka ST
(2014) J Pediatr Urol 10: 446-50
MeSH Terms: Adolescent, Adult, Child, Child, Preschool, Follow-Up Studies, Humans, Hypospadias, Infant, Male, Patient Satisfaction, Penile Erection, Prognosis, Retrospective Studies, Severity of Illness Index, Sexual Behavior, Surveys and Questionnaires, Urologic Surgical Procedures, Male, Young Adult
Show Abstract · Added February 19, 2015
OBJECTIVE - Few studies of hypospadias repair in childhood have used validated questionnaires to investigate outcomes of cosmesis, urinary function, and sexual function in adulthood. We sought to investigate long-term outcomes in adult patients who had undergone severe hypospadias repair as children using an existing web-based application available to multiple institutions in order to develop an online patient survey of previously validated questionnaires.
MATERIALS AND METHODS - Patients aged 18 years or older who underwent severe hypospadias repair between 1992 and 1997 at our institution were contacted to complete an online survey. Through medical chart reviews, we analyzed the location of meatus, type of repair, and complications. The online survey included questions about penile appearance, and validated questionnaires to assess urinary and sexual function.
RESULTS - Of 58 patients who met the inclusion criteria, we contacted 19, and 13 completed the survey. Fifty-nine percent had complications, with an average of 2.2 procedures per patient. Most (85.0%) were satisfied with penile appearance, although 38.0% had residual penile curvature. Hypospadias patients had mean lower orgasmic function than normal controls. Mean scores for urinary function and other domains of sexual function were similar to normal controls.
CONCLUSIONS - Although the majority of adult patients were satisfied with the outcomes of penile appearance, urinary function, and sexual function, our online survey suggests decreased lower orgasmic function as measured by validated questionnaire. An online survey accessible to multiple institutions with validated questionnaires may facilitate assessment of long-term hypospadias results.
Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
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18 MeSH Terms
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL
(2011) Science 331: 1571-6
MeSH Terms: Animals, Cataract, Cell Line, Chick Embryo, Crystallins, Cytoplasmic Granules, Embryonic Development, Female, Gene Expression Regulation, Developmental, Gene Knockdown Techniques, Glaucoma, Humans, Hypospadias, Lens, Crystalline, Male, Mice, Mutation, Organogenesis, Protein Biosynthesis, RNA, Messenger, RNA-Binding Proteins, Ribonucleoproteins, Spermatogenesis
Show Abstract · Added February 15, 2016
The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. TDRD7 is a Tudor domain RNA binding protein that is expressed in lens fiber cells in distinct TDRD7-RGs that interact with STAU1-ribonucleoproteins (RNPs). TDRD7 coimmunoprecipitates with specific lens messenger RNAs (mRNAs) and is required for the posttranscriptional control of mRNAs that are critical to normal lens development and to RG function. These findings demonstrate a role for RGs in vertebrate organogenesis.
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23 MeSH Terms
Training residents in hypospadias repair: variations of involvement.
DeLair SM, Tanaka ST, Yap SA, Kurzrock EA
(2008) J Urol 179: 1102-6
MeSH Terms: Clinical Competence, Education, Medical, Graduate, Educational Measurement, Fellowships and Scholarships, Health Care Surveys, Humans, Hypospadias, Infant, Internship and Residency, Male, Urologic Surgical Procedures, Male
Show Abstract · Added February 19, 2015
PURPOSE - Hypospadias repair is a complex and seminal procedure that has defined the subspecialty of pediatric urology. We sought to determine the degree of training and opinions regarding the need for fellowship training to achieve necessary competence in hypospadias repair.
MATERIALS AND METHODS - An electronic survey was sent to 518 urology residents and recent graduates, and to 168 practicing pediatric urologists. Nonresponders were resent the survey 2 additional times. The survey consisted of basic questions on level of training or years in practice. Residents and practicing pediatric urologists were asked about the level of resident participation for each step of the hypospadias procedure, and opinions on the necessity of fellowship training. Data were analyzed for statistical differences with Wilcoxon rank sum and multiple and logistic regression tests.
RESULTS - Surveys were completed by 89 pediatric urologists and 208 urology residents or recent graduates (response rate 53% and 40%, respectively). Approximately 70% of residents and attending physicians report that less than 50% of the overall hypospadias procedure is performed by the resident. There appears to be agreement between residents and attending physicians regarding the perceived amount of resident participation for all steps of the procedure except glanular mobilization. Additionally, 71% of residents and 86% of attending physicians believe that a pediatric fellowship is necessary to perform hypospadias surgery.
CONCLUSIONS - The majority of residents and attending physicians report limited resident participation in hypospadias surgery. Residents and attending physicians have significant agreement on perceived participation. Our data do not corroborate the program data regarding the role of urology residents in hypospadias repair. The majority of residents and pediatric urologists believe specialized training is required to perform hypospadias surgery.
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11 MeSH Terms
Mutation of HOXA13 in hand-foot-genital syndrome.
Mortlock DP, Innis JW
(1997) Nat Genet 15: 179-80
MeSH Terms: Abnormalities, Multiple, Amino Acid Sequence, Codon, DNA, DNA Mutational Analysis, Female, Foot Deformities, Congenital, Hand Deformities, Congenital, Homeodomain Proteins, Humans, Hypospadias, Male, Molecular Sequence Data, Pedigree, Point Mutation, Protein Binding, Protein Structure, Tertiary, Structure-Activity Relationship, Syndrome, Urethra, Uterus
Show Abstract · Added June 9, 2010
There are several human syndromes which involve defects of the limbs and the Müllerian ducts or its derivatives. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Stern et al. Additional reports describing other affected families have also been published. Limb anomalies include short first metacarpals of normal thickness, small distal phalanges of the thumbs, short middle phalanges of the fifth fingers, and fusion or delayed ossification of wrist bones. In the feet, the great toe is shorter due to a short first metatarsal and a small, pointed distal phalanx. Uterine anomalies are common in females with HFG, and typically involve a partially divided (bicornuate) or completely divided (didelphic) uterus, representing defects of Müllerian duct fusion. Urinary tract malformations in affected HFG females include a displaced urethral opening and malposition of ureteral orifices in the bladder wall; affected males may have hypospadias (ventrally misplaced urethral opening) of variable severity. We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA.
1 Communities
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21 MeSH Terms