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Kimford J Meador
Fetal valproate exposure has been associated with the highest risk of congenital malformations among antiepileptic drugs.(1) Valproate's effect is dose-dependent(1) and has been associated with multiple specific malformations.(2,3) Vadja et al.(4) examined data from the Australian Pregnancy Registry (1999-2012 data), which included 1,705 pregnancies with 436 valproate exposures.(4) They found that the use and dosages of valproate have fallen over the last 5 years. The rates of spina bifida and hypospadius in those exposed dropped with reducing dosages of valproate, but the rates of other malformations did not...
September 10, 2013: Neurology
Imala D Alwis, Dulce M Maroni, Isabel R Hendry, Shyamal K Roy, Jeffrey V May, Wendell W Leavitt, William J Hendry
We assessed neonatal diethylstilbestrol (DES)-induced disruption at various endocrine levels in the hamster. In particular, we used organ transplantation into the hamster cheek pouch to determine whether abnormalities observed in the post-pubertal ovary are due to: (a) a direct (early) mechanism or (b) an indirect (late) mechanism that involves altered development and function of the hypothalamus and/or pituitary. Of the various disruption endpoints and attributes assessed: (1) some were consistent with the direct mechanism (altered uterine and cervical dimensions/organization, ovarian polyovular follicles, vaginal hypospadius, endometrial hyperplasia/dysplasia); (2) some were consistent with the indirect mechanism (ovarian/oviductal salpingitis, cystic ovarian follicles); (3) some were consistent with a combination of the direct and indirect mechanisms (altered endocrine status); and (4) the mechanism(s) for one (lack of corpora lutea) was uncertain...
December 2011: Reproductive Toxicology
Asish Kumar Basu, Goutam Guha, Sandipan Gupta, Ramtanu Bandyopadhyay
The conditions like gynaecomastia and hypospadius are not uncommon. Approximately 40% of normal men have palpable breast tissue. Hypospadius affects in excess of 1 in 300 boys. But the two conditions together occur very rarely and that too in the siblings. Two brothers in the same family of 16 and 14 years of ages reported with the complaints of bilateral gynaecomastia and hypospadius. USG of breasts of both the brothers revealed well developed duct system. LH, FSH, testosterone, oestradiol levels were within normal limits...
August 2010: Journal of the Indian Medical Association
X M Deng, W J Xiao, G Z Tang, M P Luo, K L Xu
We compared the minimum local analgesia concentration of ropivacaine for intra-operative caudal analgesia in pre-school and school age children. Fifty-one boys, undergoing hypospadius repair surgery, were stratified into pre-school or school age groups. After induction of anaesthesia, caudal block was performed with ropivacaine 1⁻¹ of the desired concentration. The first child in each group received ropivacaine 0.125%, and subsequent concentrations were determined by the analgesic response of the previous patient using Dixon's up-and-down method...
October 2010: Anaesthesia
Khaled R Al-Zaben, Ibraheem Y Qudaisat, Subhi M Al-Ghanem, Islam M Massad, Mahmoud M Al-Mustafa, Abdelkarim S Al-Oweidi, Sami A Abu-Halaweh, Hamdi M Abu-Ali, Mohammad M Saleem
BACKGROUND: The present study was designed to assess whether an intraoperative administration of dexmedetomidine would decrease the intraoperative and postoperative analgesic requirements for paediatric patients undergoing hypospadius surgery. METHODS: Forty-eight children (American Society of Anesthesiologists-1) aged 1-12 years undergoing hypospadius repair under general anaesthesia were randomly assigned into dexmedetomidine or placebo groups, D and P, respectively...
March 2010: European Journal of Anaesthesiology
Kotb A Metwalley, Hekma S Farghalley, Alaa A Abd-Elsayed
INTRODUCTION: Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18. The association between trisomy 18 and congenital hydrocephalus is very rare. CASE PRESENTATION: A 4-month-old male Egyptian baby boy was referred to Assiut University hospital for evaluation of his large-sized head. The initial clinical examination revealed facial dysmorphism including a prominent wide forehead, wide anterior fontanel, bushy eyebrows, synophrosis, small palpebral fissures, ocular hypertelorism, high arched palate, depressed nasal bridge, low-set ears, micrognathia, bilateral clenched hands with over lapping fingers, rocker-bottom feet and penile hypospadius...
2009: Journal of Medical Case Reports
Christopher B Griffith, Richard C Probert, Gail H Vance
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition...
November 2009: American Journal of Medical Genetics. Part A
Christina M Jacobsen, Laurie E Cohen
BACKGROUND: An 8.5-year-old boy was referred to a pediatric endocrinology clinic for evaluation of short stature. At birth, a chordee without hypospadius, 90-degree penile torsion and an undescended testis on the right had been observed. The boy had undergone surgical repair at 1 year of age and at that time an undescended 'nonfunctional' streak gonad and a horseshoe kidney had been noted. Subsequent karyotype analysis had revealed a 45,X0/46,XY karyotype with mosaicism. Since 4-5 years of age, the patient's height has been below the 3(rd) percentile, whereas his weight has been maintained at approximately the 3(rd) percentile...
September 2008: Nature Clinical Practice. Endocrinology & Metabolism
No abstract text is available yet for this article.
November 1949: United States Naval Medical Bulletin
T M MacLeod, S Adeniran
Body piercing has been practiced for many centuries and is thought to have its origins in the Hindu religion. As traditional ear piercings have given way to more adventurous anatomical sites, so too have the associated complications of these practices. We present the case of a 35 year old man who presented 12 months after a penile piercing with an extensive fistula of the glans penis resembling an acquired glanular hypospadius.
July 2004: British Journal of Plastic Surgery
M M Khalifa, S Cappon, D Soboleski, D Armstrong
We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities...
January 22, 2002: American Journal of Medical Genetics
H Ghanem, S Ghazy, A El-Meliegy
The objective of this retrospective study is to evaluate the surgical outcome of correction of congenital penile curvature, via multiple vertical incisions in the tunica albuginea that are sutured horizontally using simple inverted 2-0 PDS sutures. The study included 22 men with congenital penile curvature. The surgeries were performed in three general hospitals. The procedures straightened the penile shaft in all cases but a degree of curvature recurred in three cases. No operative or postoperative complications occurred and no reoperations were needed...
April 2000: International Journal of Impotence Research
T Costa, R Pashby, M Huggins, I E Teshima
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boys ages 3 and 5 with BPES and associated nonocular abnormalities. Karyotype, which had been previously reported as normal, was repeated using high-resolution banding techniques, to look specifically at 3q23...
September 1998: Journal of Pediatric Ophthalmology and Strabismus
S C Kulak, K Kozlowski, E V Semina, W G Pearce, M A Walter
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with non-ocular features including maxillary hypoplasia, micro and anodontia, redundant periumbilical skin, hypospadius (in males), and each has been genetically linked to chromosome 4q25...
July 1998: Human Molecular Genetics
W B Dobyns, R Guerrini, D K Czapansky-Beilman, M E Pierpont, G Breningstall, D H Yock, P Bonanni, C L Truwit
Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly...
October 1997: Neurology
J D Goldenberg, L D Holinger, F J Bressler, L R Hutchinson
The true bifid epiglottis is a rare congenital anomaly typically discovered during the evaluation of stridor in an infant or newborn. While it is not classified as a specific syndrome, there are frequent associations of other congenital anomalies with the bifid epiglottis. These include midline defects (such as microphallus, hypospadius, imperforate anus, and midline laryngeal cleft), endocrine disorders (including congenital hypopituitarism), and central nervous system neoplasms, including hypothalamic hamartoblastoma...
February 1996: Annals of Otology, Rhinology, and Laryngology
L W Huang, M R Chen, S P Lin, F Y Huang, M Y Ho, H A Kao, C H Hsu, H Y Hung, T C Tsai
Forty-six patients with two or more features of the VATER association admitted to the Mackay Memorial Hospital from May, 1983 to Mar, 1992 were retrospectively enrolled in this study. We compared the incidence of major features with that reported in the literature. Imperforate anus, congenital heart disease, and renal anomalies were the three most common major features in our study. Thirteen patients died. Heart failure was the major cause of mortality. We noted many patients associated minor features, and among them there was a relatively high ratio of cleft lip, cleft palate, and hypospadius...
January 1995: Zhonghua Minguo Xiao Er Ke Yi Xue Hui za Zhi [Journal]
J S Duker, J S Weiss, M Siber, F R Bieber, D M Albert
We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities...
January 15, 1985: American Journal of Ophthalmology
L H Finkelstein, L M Blatstein
Non-hair-bearing skin should be utilized when grafting is necessary in carrying out urethroplasty for stricture or hypospadius repair. Occasionally this is not possible, or hair-bearing skin is used inadvertently. Traditionally electrocoagulation has been the method used for epilation when intraluminal hair has become a problem, such as interfering with flow, being foci for recurring urinary tract infection, or acting as a nidus for calculus formation. Electrocautery is also used at the time of grafting in an attempt to prevent the growth of hair when hair-bearing skin is utilized...
1990: Lasers in Surgery and Medicine
A G Coran, T Z Polley
Proper gender assignment to a neonate born with ambiguous genitalia is a social emergency of the newborn period. Once an appropriate sex assignment has been made, the next critical step is performance, if needed, of a reconstructive procedure in a timely fashion. In an attempt to evaluate our experience with this unique group of patients, we have retrospectively reviewed the course of 69 children with ambiguous genitalia managed surgically at this institution between 1974 and 1989. This series consists of 32 genotypic females with congenital adrenal hyperplasia (CAH), 10 children with mixed gonadal dysgenesis (MGD), 10 male pseudohermaphrodites, 3 true hermaphrodites, 8 genotypic females with urogenital sinus anomalies (UGS), and 6 genotypic males with bilateral undescended testes and penoscrotal hypospadius...
July 1991: Journal of Pediatric Surgery
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