De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. Loss‐of‐function mutations of MECP2 are responsible for Rett syndrome (RTT), an X‐linked neurodevelopmental disorder affecting mainly girls. The availability of MECP2 testing has led to the identification of such mutations in girls with atypical RTT features and the recognition of milder forms. Furthermore, duplication of the entire gene has recently been described in boys with mental retardation and recurrent infections. We describe a girl with a heterozygous de novo MECP2 duplication. The patient, at the age of 19, has mental retardation with no autistic features. She is friendly but gets frequently anxious. She has neither dysmorphic features nor malformations. Her motor development was delayed with walking at 20 months. Speech is fluid with good pronunciation but is simple and repetitive. Diagnosis was made after single‐strand conformation analysis (SSCA) and multiplex ligation‐dependent probe amplification (MLPA) analysis of MECP2. Array comparative genomic hybridization (aCGH) analysis showed a duplication of 29 kb including MECP2 and part of IRAK1. Fluorescent in situ hybridization (FISH) has revealed that the duplicated region is inserted near the telomere of the short arm of chromosome 10. X‐chromosome inactivation in leukocyte DNA was not skewed. We conclude that it is likely that this MECP2 duplication is responsible for the mental retardation in this patient. This case broadens the phenotypic spectrum of MECP2 abnormalities with consequent implication in diagnosis and genetic counselling of girls with non‐syndromic mental retardation.     

蒙药如达溃疡散对大鼠乙酸性胃溃疡及其血清促胃液素的影响

目的:探讨如达溃疡散对大鼠乙酸性胃溃疡的作用及对其血清促胃液素(gastrin)含量的影响.方法:采用乙酸法复制胃溃疡模型,将大鼠随机分为对照组、如达溃疡散组、雷尼替丁组,观察如达溃疡散对大鼠胃溃疡的作用,并检测其对大鼠血清中促胃液素含量的影响.结果:与对照组相比,如达溃疡散能明显抑制溃疡的发生,抑制血清促胃液素含量.结论:如达溃疡散具有抗胃溃疡的作用,其作用机理可能是通过抑制促胃液素释放,进一步减少胃酸分泌来实现的.     

Practice MRI: Reducing the need for sedation and general anaesthesia in children undergoing MRI

The aim of this study was to evaluate the effectiveness of a practice magnetic resonance unit, in preparing children to undergo magnetic resonance procedures without general anaesthesia (GA) or sedation. The records of children who attended the practice MRI between February 2002 and April 2004 were retrospectively reviewed. Each record was assessed as to whether the child had passed or failed the practice MRI intervention. Those children who were considered to have passed and were proceeded to a clinical non‐GA MRI had the report of the clinical scan reviewed. If the scan had been reported as non‐diagnostic because of movement artefact it was classified as a failed scan, otherwise it was considered a pass. One hundred and thirty‐four children undertook a practice MRI (age range 4.1–16.1 years, median age 7.7 years, 47% boys) and 120/134 (90%) passed the practice session. In all, 117/120 (98%) subsequently had a clinical non‐GA MRI and 110/117 (94%) passed (median age 7.8 years, 47% boys). Preparation is a safe and effective method to reduce the need for sedation and GA in children undergoing a clinical MRI scan. It provides a positive medical experience for children, parents and staff, and results in cost savings for the hospital.     

Whole body protein metabolism in children with cancer

Whole body protein synthesis and catabolism were measured using the [ring-2H5]phenylalanine and [1-13C]leucine primed constant infusion technique in 32 paediatric patients with cancer at different stages of treatment. Rates of synthesis (S) and catabolism (C) derived from the [ring-2H5]phenylalanine and [1-13C]leucine models were 4.7 (SD 1.3) (S) and 6.0 (1.5) (C) g/d/kg, and 5.5 (0.8) (S) and 6.8 (1.2) (C) g/d/kg, respectively. These results show that these two tracer techniques give similar results in this study population. Comparison of these values with results previously reported for groups of control children using the [ring-2H5]phenylalanine model (S = 3.69 and 3.93; C = 4.09 and 4.28 g/d/kg) and the [1-13C]leucine model (S = 4.32; C = 4.85 g/d/kg) show that rates of synthesis and catabolism were higher in cancer patients than in controls. Thus whole body protein turnover is increased in children under treatment for cancer. Other indices of metabolism such as plasma amino acids and intermediary metabolites were also measured and showed that, although subjects were in isotopic steady state, there were significant metabolic changes during the course of the primed constant infusions used to measure protein turnover.     

Protein nutrition, faecal flora and iron metabolism: the role of milk-based formulae

This paper explores the role of milk-based formulae in achieving four aspects of nutritional health in infants and toddlers: in the suckling, to mimic the amino acid metabolism and the faecal flora of a breast-fed baby; in the weanling, to achieve adequate protein intakes in later infancy and beyond and to achieve satisfactory haemoglobin concentrations in the early toddler years. Milk-based formulae have two roles in infant nutrition: as so-called breast milk substitutes and as a safety net during the weaning period; the latter role may be the more important.     

PAROXYSMAL TACHYCARDIA IN INFANCY AND CHILDHOOD I. Paroxysmal Supraventricular Tachycardia

A 1 to 30 year follow-up study of 54 infants and children with paroxysmal supraventricular tachycardia is presented. In 28 cases the first attack occurred in infancy, and in 18 of these already in the first months of life. Nine patients had organic heart disease. The WPW syndrome was diagnosed in 30 cases. When first seen, most of the infants presented signs of incipient or manifest congestive heart failure, which was very unusual in the children, most of whom had only minor symptoms. Four children had experienced brief syncopes during attacks. Digitalis was effective against congestive heart failure and, when continued, may have prevented failure during subsequent attacks. Whether digitalis and other anti-arrhythmic agents facilitated conversion to sinus rhythm could not be established in this study. Vagal stimulation was only rarely effective. Preventive treatment with digitalis or other antiarrhythmic drugs seemed to have little if any effect on the frequency of recurrent attacks. Out of 23 infants who were followed for at least 5 years, 17 had been free from attacks during the last 3 years and 13 of these had had their last attack before the age of 6 months. Out of 23 children followed for 5 years or more, only 3 had been free from recurrences during the last 3 years. Patients with the WPW-syndrome had a somewhat higher incidence of recurrent attacks.     

Acute gastroenteritis: clinical features according to etiologic agents

The clinical manifestations in 595 children hospitalized with gastroenteritis during a 15-month time frame were studied. They were divided into eight groups according to etiologic agent: rotavirus (203 patients); Salmonellae (98); Escherichia coli (55); Campylobacter (36); Shigella (22); combined rotavirus and salmonellae (44); combined rotavirus and other bacteria (26); and no pathogen (111). The mean duration of diarrhea was shortest in the rotavirus and "no pathogen" groups (4.8 and 5.6 days, respectively) and longest with pure and mixed salmonella infections (12.3 and 12.9 days, respectively). Associated manifestations were most frequent with salmonellae and least frequent with rotavirus and E. coli infections. Malnutrition also was most common with salmonellae and lowest with rotavirus and E. coli. There were no differences in the frequency of hypernatremia. Hyponatremia was most frequently encountered with salmonella (25% compared to 9% in the rest of the patients). Evidence of septicemia was found in 22 patients, 21 of whom were in the salmonella groups. The four deaths in this series (0.7%) also were in the salmonellae groups. The clinical severity of salmonella infection in developing countries, particularly in young and malnourished children, warrants attention to more intensive management. The selective use of antibiotics may help reduce the mortality and morbidity of gastroenteritis.