Search results for "Infantile"

Laparoscopic surgery of deferential reflux in pediatric and adolescent varicocele

2009

BACKGROUND: This study aimed to assess whether deferential reflux in pediatric and adolescent varicocele can be successfully treated laparoscopically. MATERIALS AND METHODS: Since 2001 at our institution, 148 boys were evaluated for a left varicocele. Preoperatively,all the patients underwent ultrasound scan assessment of testicular volume and color-Doppler US (CDUS)to rule out reflux into the internal spermatic vein (ISV), deferential vein, or cremasteric vein. Boys with ISV reflux were treated by laparoscopic transperitoneal Palomo; boys with isolated deferential reflux or associated to ISV reflux were laparoscopically managed adding to the former procedure, coagulation or clipping of ref…

Principe de précaution et assistance médicale à la procréation : l'ICSI

2004

International audience

ACQUISIZIONE E SVILUPPO DEL LINGUAGGIO NEL BAMBINO BILINGUE. Aspetti dell'apprendimento in una prospettiva interculturale e plurilingue.

2008

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability

2017

Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells. We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including microcephaly, refractory infantile spas…

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

2021

Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of bot…

Duodenal perforation due to an abdominal drain placed after appendectomy in a child

2008

Insertion of abdominal drainage after appendectomy is controversial. We report on a case of duodenal perforation due to a silastic open drainage tube placed in the right para-colic gutter after appendectomy for perforated appendicitis. This case offers a clue against too liberal usage of abdominal drainage after appendectomy. Conservative management of bowel perforations secondary to abdominal drainages should be attempted in the absence of generalised peritonitis.

Efficacy of Periportal Infiltration and Intraperitoneal Instillation of Ropivacaine After Laparoscopic Surgery in Children

2009

Postoperative pain is less intense after laparoscopic than after open surgery. However, minimally invasive surgery is not a a pain-free procedure. Many trials have been done in adults using intraperitoneal and/or incisional local anesthetic, but similar studies have not yet been reported in the literature in children. Aim: The aim of this study was to evaluate the analgesic effect of periportal infiltration and intraperitoneal instillation of ropivacaine in children undergoing laparoscopic surgery. Materials and Methods: Thirty patients who underwent laparoscopic surgery were randomly allocated to one of three groups. Group A (n 10) received local infiltration of port sites with 10 mL of ro…

The quality of life in developing age children with celiac disease

2013

The moments that follow the diagnosis of celiac disease and the early stages of the gluten-free diet are extremely difficult and complex for parents and child, because they face an important change punctuated by self-denial and deprivation. The main objective of this research is to assess the impact of celiac disease on quality of life in subjects in developmental age, taking into account the perceptions of parents about the child's illness, with the aim to highlight the effect of disease on the child and the entire family.The study included both parents of 45 children aged between 2 and 10 years, with established celiac disease. To evaluate the effect of celiac disease on the lifestyle of …

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

2020

Abstract Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients…

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

2019

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Regarding the paucity of data in the literature, we describe the presented case with a view to further establishing: (1) a genotype/phenotype correlation in order to define a BFNE phenotype associated with favourable outcome; (2) a…