A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.

Introduction: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements.

Are weight or age limits for pediatric laparoscopic pyeloplasty? Results of a multicentric study.

Introduction: Anderson-Hynes pyeloplasty is the technique of choice for the treatment of pyeloureteral junction obstruction (PUJO) with an excellent success rate. Minimally invasive surgery has become the standard of care for the management of PUJO in children. Although it has been comparable to the open approach at all levels, its diffusion or employment in younger children has not been widely adopted.

Radiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.

Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically.

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Context: Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important.

Objective: We aimed to better understand the presentation and prevalence of pediatric DSD.

Latitudes and attitudes: A multinational study of laparoscopic pyeloplasty in children.

Purpose: The Anderson-Hynes technique has been the treatment of choice for primary ureteropelvic junction obstruction in children. Laparoscopic approach has shown similar outcomes to open, with advantages of shorter hospital stay and less pain. We reviewed the experience of 11 geographically diverse, tertiary pediatric urology institutions focusing on the outcomes and complications of laparoscopic pyeloplasty.

Validation of Hindi Translation of Survey of Well-Being of Young Children Tool in Indian Children.

Objective: To validate the Hindi translation of Survey of well-being of young children (SWYC), a screening questionnaire to detect developmental delay and emotional-behavior problems by primary caregivers in Indian children.

Methods: This cross-sectional observational study was done at the child development clinic of our private-sector tertiary care hospital. 180 children of either sex, 60 each in age group of 9, 18 and 24 months were enrolled in the study (30 high-risk and 30 low-risk in each group).

Paediatric kidney transplantation: Towards a framework for pretransplant urological evaluation.

The role of the urologist in paediatric kidney transplantation has evolved alongside advances in management for the various causes of end-stage kidney disease. Improvements in antenatal intervention and postnatal care have seen children with increasingly complex urological anomalies survive until transplant. Once solely responsible for the oversight of a child's surgical care, the paediatric urologist now works within a multidisciplinary transplant team, alongside transplant surgeons, paediatric nephrologists, transplant coordinators, psychologists, social workers, and transitional care specialists.

Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.

Introduction: Bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member have been reported, and a twin concordance study supported a genetic contribution to pathogenesis. Moreover, diverse chromosomal aberrations have been reported in a small subset of individuals with BEEC.

Justin H. Kelly and his procedure for bladder exstrophy and epispadias.

The operations involved in the repair of complete bladder exstrophy (CBE), familiarly known as the Kelly procedure, evolved over more than 100 years. Through repeated cycles of trial and error, some of the most prominent urologists in the world developed techniques that addressed each of the formidable surgical challenges presented by CBE and epispadias. A key figure is Justin H.

Surgical management, staging, and outcomes of Wilms tumours with intravascular extension: Results of the IMPORT study.

Purpose: To review surgical management, tumour stage and clinical outcomes in children with intravascular extension of Wilms tumour (WT) registered in a national clinical study (2012-19).

Methods: WTs with presence/suspicion of tumour thrombus in the renal vein (RV) or beyond on radiology, surgery or pathology case report forms were identified. Only cases where thrombus was confirmed by surgeon and/or reference pathologist were included.

Long-term active problems in patients with cloacal exstrophy: A systematic review.

Background: Cloacal exstrophy (CE) is the most severe end of the Exstrophy-Epispadias Complex malformations spectrum. Improvements in postnatal management and well-established operative techniques have resulted in survival rates approaching 100%. This systematic review aims to define the prevalence of long-term active medical problems affecting CE patients after the first decade of life.

Association of sense of coherence with oral health behaviors and gingival bleeding among adolescents.

Context: Adolescents experience many types of gingival and periodontal diseases, including gingivitis, localized or generalized aggressive periodontitis, and periodontal complications of various systemic diseases. The occurrence of periodontal diseases is not only related to biotic factors but may also be affected by nonbiotic factors such as oral health behaviors and practices. Various factors that influence an individual's health-related behaviors include a psychosocial construct named sense of coherence (SOC).

The bell-clapper deformity of the testis: The definitive pathological anatomy.

Introduction: The bell-clapper deformity (BCD) predisposes to intravaginal torsion (IVT) and is classically bilateral. The precise pathological definition of what constitutes a BCD is not clear. The current study aims to clarify the specific anatomic details of this anomaly.

Decreasing Target Behavior in a Child Using Functional Behavior Assessment and Differential Reinforcement.

Techniques of behavior modification were employed to address the target behavior of functional excessive coughing-psychogenic cough in a 12-y-old boy referred by a pediatrician who found no identifiable medical reasons. To identify the purpose that maintains the behavior, functional behavior assessment was carried out and in order to reduce the frequency of target behavior, extinction and differential reinforcement of behavior analysis was incorporated. The management resulted in significant decrease of the target behavior of coughing without any medical intervention.

Embryonal precursors of Wilms tumor.

Adult cancers often arise from premalignant clonal expansions. Whether the same is true of childhood tumors has been unclear. To investigate whether Wilms tumor (nephroblastoma; a childhood kidney cancer) develops from a premalignant background, we examined the phylogenetic relationship between tumors and corresponding normal tissues.

Spatiotemporal immune zonation of the human kidney.

Tissue-resident immune cells are important for organ homeostasis and defense. The epithelium may contribute to these functions directly or by cross-talk with immune cells. We used single-cell RNA sequencing to resolve the spatiotemporal immune topology of the human kidney.

Laparoscopic and robotic-assisted repair of retrocaval ureter in children: a multi-institutional comparative study with open repair.

Purpose: This retrospective study aimed to report a multi-institutional experience with laparoscopic and robotic-assisted repair of retrocaval ureter in children and to compare outcome of minimally invasive surgery (MIS) with open repair.

Methods: The records of all children, who underwent MIS and open repair of retrocaval ureters in six international pediatric urology units over a 5-year period, were retrospectively collected. Data were grouped according to the operative approach: a laparoscopic group (G1) included five patients, a robotic-assisted group (G2) included four patients, and an open group (G3) included three patients.