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Quality of Life and Continence in Patients with Spina Bifida
Purpose:Spina bifida (SB) is the most common congenital cause of incontinence in childhood. This study attempts to determine the relationships between urinary/faecal incontinence, methods ofExpand
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Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis.
BACKGROUND/PURPOSE Inflammatory myofibroblastic tumor (IMT) is considered as an intermediate neoplasm that may present malignant features. Differential diagnosis with other tumor processes isExpand
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Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias
Background Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severeExpand
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Intussusception in infants and children: feasibility of ambulatory management
Abstract To evaluate the ambulatory management of ileo-colic intussusception in infants and children, a retrospective study over 3 years of 113 children treated for ileo-colic intussusception in aExpand
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Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
PURPOSE Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology.Expand
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Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
In recent years, considerable advances have been made in our understanding of genetics of mammalian gonad development; however, the underlying genetic aetiology in the majority of patients with 46,XYExpand
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The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery.
PURPOSE Little is known about long-term outcomes of conservative gonadal surgery in true hermaphroditism. We present our experience with evaluation and treatment of a large series of children withExpand
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Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls.
PURPOSE The Mayer-Rokitansky-Kuster-Hauser syndrome (Rokitansky syndrome) is a frequently misdiagnosed congenital anomaly of the female genital tract. Of several surgical treatments sigmoidExpand
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Keyhole sign: how specific is it for the diagnosis of posterior urethral valves?
Posterior urethral valves (PUV) are the most common cause of renal impairment in boys during early childhood. Although antenatal suspicion of this pathology has become quite common in recent years,Expand
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A multicenter evaluation of urinary incontinence management and outcome in spina bifida.
PURPOSE We describe urinary continence management and outcome in patients with spina bifida to identify the procedures that are most successful. MATERIALS AND METHODS In a multicenter retrospectiveExpand
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