Spot urine samples to estimate 24-hour urinary calcium excretion in school-age children.

Urinary calcium/creatinine ratio (UCa/Cr) on a single spot urine sample is frequently used in children to evaluate calciuria, but its accuracy to estimate 24-h urinary calcium excretion (24hUCa) has not been properly assessed. We analyzed the correlation between UCa/Cr in various spot samples and 24hUCa among healthy children. A 24-h urine specimen and three spot urine samples (evening, first, and second morning) were collected in a convenience sample of children aged 6 to 16 years (n = 101).

Monitoring caffeine intake in children with a questionnaire and urine collection: a cross-sectional study in a convenience sample in Switzerland.

Purpose: The objectives of this study were (1) to estimate caffeine intake and identify the main sources of intake using a dietary questionnaire, (2) to assess 24-h urinary excretion of caffeine and its metabolites, and (3) to assess how self-reported intake estimates correlates with urinary excretion among children in Switzerland.

Methods: We conducted a cross-sectional study of children between 6 and 16 years of age in one region of Switzerland. The participants filled in a dietary questionnaire and collected a 24-h urine sample.

Urine Spot Samples Can Be Used to Estimate 24-Hour Urinary Sodium Excretion in Children.

Background: The gold standard to assess salt intake is 24-h urine collections. Use of a urine spot sample can be a simpler alternative, especially when the goal is to assess sodium intake at the population level. Several equations to estimate 24-h urinary sodium excretion from urine spot samples have been tested in adults, but not in children.

Estimation of salt intake and excretion in children in one region of Switzerland: a cross-sectional study.

Purpose: Salt intake among children in Switzerland is unknown. The objectives of this study were to determine salt excretion and to identify the main dietary sources of salt intake among children in one region of Switzerland.

Methods: We conducted a cross-sectional study using a convenient sample of children 6-16 years of age in Valais, Switzerland, between 2016 and 2018.

Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients.

Tumor mutation load (TML) has been proposed as a biomarker of patient response to immunotherapy in several studies. TML is usually determined by tumor biopsy DNA (tDNA) whole exome sequencing (WES), therefore TML evaluation is limited by informative biopsy availability. Circulating cell free DNA (cfDNA) provided by liquid biopsy is a surrogate specimen to biopsy for molecular profiling.

[Ritual circumcision : a society challenge].

Male circumcision is one of the most common surgical procedure in the world. At the world level, 30 % of the men are circumcised. The reasons of circumcisions are ritual for 97 %.

Long-term outcome of children with patent processus vaginalis incidentally diagnosed by laparoscopy.

Introduction: Patent processus vaginalis (PPV) might be incidentally diagnosed during laparoscopy. The aims of this study were to determine the prevalence and the natural history of PPV, i.e.

Hsa-miR-31-3p expression is linked to progression-free survival in patients with KRAS wild-type metastatic colorectal cancer treated with anti-EGFR therapy.

Purpose: To identify microRNAs (miRNA) that predict response to anti-EGFR antibodies in patients with wild-type KRAS metastatic colorectal cancer (mCRC).

Experimental Design: miRNA profiling was performed in a training set of 87 patients with mCRC refractory to chemotherapy treated with anti-EGFR antibodies. This included 33 fresh-frozen (FF) and 35 formalin-fixed paraffin-embedded (FFPE) samples retrospectively collected and 19 prospectively collected FF samples.

A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism.

Autism spectrum disorders (ASD) are highly heritable complex neurodevelopmental disorders with a 4:1 male: female ratio. Common genetic variation could explain 40-60% of the variance in liability to autism. Because of their small effect, genome-wide association studies (GWASs) have only identified a small number of individual single-nucleotide polymorphisms (SNPs).

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Background: Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism.

Total laparoscopic excision of retroperitoneal cystic lymphangioma.

Retroperitoneal cystic lymphangioma is a rare benign tumor of the retroperitoneal lymphatics that usually manifests in infancy. If surgical excision is used in treatment, it needs to be as complete as possible to reduce the risk of recurrence. Two pediatric patients, an 18-month-old girl and a 4-yearold boy, underwent laparoscopic excision of symptomatic retroperitoneal cystic lymphangiomas.

Ingestion of magnets: innocent in solitude, harmful in groups.

Foreign body ingestion is frequent in children and generally associated with little morbidity. However, some foreign bodies are innocent when ingested as a single object, but may have harmful effect if numerous. We report a 9-year-old girl who swallowed 5 magnets, causing acute intestinal obstruction.

ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease.

Recent epidemiological, biological and genetic data indicate a relationship between cholesterol and Alzheimer's disease (AD) including the association of polymorphisms of ABCA1 (a gene that is known to participate in cholesterol and phospholipid transport) with AD prevalence. Based on these data, we postulated that genetic variation in the related and brain-specific ABCA2 gene leads to increase risk of AD. A large case-control study was conducted where the sample was randomly divided into a hypothesis-testing sample (230 cases/286 controls) and a validation sample (210 cases/233 controls).

[Management of simple cranial injuries and minor cranio-cerebral injuries in children].

Owing to the frequent occurrence of minor head injuries in their daily practice, pediatricians and primary care physicians have a constant concern about their management. Evaluation of a neurotraumatised children must take account of the epidemiological, anatomical, pathophysiological and clinical specificity of each age class. Recent publications of the American Academy of Pediatric, with evidence based medicine review of the literature and experts consensus have permitted to define precise guidelines for the management of children over and below 2 years of age.

Peritoneal schistosomiasis: an unusual laparoscopic finding.

Laparoscopic surgery is now a common procedure for the cure of appendicitis. Unexpected other laparoscopic findings can be a diagnostic challenge. The authors present a case in which, in addition to typical appendicitis, multiple whitish nodules were found diffusely on the peritoneal surfaces suggesting a differential diagnosis including miliary tuberculosis and carcinoma metastases.

Selective hepatic artery ligation for hepatic haemangioendothelioma: case report and review of the literature.

Although benign, hepatic haemangioendotheliomas (HHE) are rare vascular tumours of the infant which have a high mortality rate secondary to high output congestive heart failure. The management of these tumours is still controversial and none of the different medical or surgical options has been unanimously accepted. We report the case of a neonate with congestive heart failure (CHF) due to a localized HHE, treated successfully by selective ligation of the left hepatic artery branch irrigating the tumour, under perioperative ultrasound Doppler control.

Biliary atresia and orthotopic liver transplantation. 11 years of experience in Geneva.

Biliary atresia (BA) is a congenital malformation or an evolutive inflammatory process which, without treatment, leads to cirrhosis, hepatic failure and death within two years of birth. The literature gives a survival rate of 60% at five years and 25% to adulthood after an initial operation performed for BA. 30% of children do not survive beyond two years of age.

Intestinal obstruction caused by an ectopic fallopian tube in a child: case report and literature review.

The authors present the case of a prepubertal 14-year-old girl who was admitted for an acute abdominal pain, fever, and vomiting. She was in a poor general state, having recently suffered a weight loss of 5 kg. A plain abdominal x-ray disclosed signs of mechanical ileus.

Improvement of the effect of hepatocyte isograft in the Gunn rat by cotransplantation of islets of Langerhans.

Purpose: Hepatocyte transplantation (HcTX) has been investigated for many years as an alternative therapy to orthotopic liver transplantation to treat hepatic congenital enzymatic deficiency disease. The animal model most used is the Gunn rat, which presents a hyperbilirubinemia caused by the lack of uridine-diphosphate-glucuronyl-transferase. Some investigators have clearly described a hepatotrophic effect mediated by islets of Langerhans (IL) when transplanted with hepatocytes (Hc).

A silicone-coated nylon dressing reduces healing time in burned paediatric patients in comparison with standard sulfadiazine treatment: a prospective randomized trial.

Mepitel is a new grid like silicone coated nylon dressing containing no additional biological compounds. We describe a prospective randomized pilot study comparing Mepitel to the standard silver sulfadiazine cream (Flamazine) dressing for the topical treatment of paediatric burns. Seventy-six children presenting within 24 h of injury with a non previously treated burn were randomly assigned to Mepitel treatment (group M) or Flamazine treatment (group F).

Effects of glucose on chemically induced acute hepatic failure in rats.

Topic: Acute hepatic failure (AHF) is a physiopathological entity difficult to reproduce experimentally but necessary to evaluate new therapies such as bioartificial liver (BAL) or hepatocyte transplantation (HcTX). Two main animal models are available: surgical or chemical induction of an AHF. Many authors have assessed BAL or HcTX with such models and observed increased survival rate in the treated groups.