Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

With next generation sequencing, physicians are faced with more complex and uncertain data, particularly incidental findings (IF). Guidelines for the return of IF have been published by learned societies. However, little is known about how patients are affected by these results in a context of oncogenetic testing.

A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells.

Signalling through gap junctions contributes to control insulin secretion and, thus, blood glucose levels. Gap junctions of the insulin-producing β-cells are made of connexin 36 (Cx36), which is encoded by the GJD2 gene. Cx36-null mice feature alterations mimicking those observed in type 2 diabetes (T2D).

Risk factors of postoperative vomiting in children receiving continuous intravenous morphine.

Background: Risk factors of postoperative vomiting (POV) have been less extensively explored in children compared to adults. We analyzed the risk factors of POV in children receiving continuous intravenous (i.v.

Islet-cell-to-cell communication as basis for normal insulin secretion.

The emergence of pancreatic islets has necessitated the development of a signalling system for the intra- and inter-islet coordination of beta cells. With evolution, this system has evolved into a complex regulatory network of partially cross-talking pathways, whereby individual cells sense the state of activity of their neighbours and, accordingly, regulate their own level of functioning. A consistent feature of this network in vertebrates is the expression of connexin (Cx)-36-made cell-to-cell channels, which cluster at gap junction domains of the cell membrane, and which adjacent beta cells use to share cytoplasmic ions and small metabolites within individual islets.

Connexin36 and pancreatic beta-cell functions.

Most cell types are functionally coupled by connexin (Cx) channels, i.e. exchange cytoplasmic ions and small metabolites through gap junction domains of their membrane.

Involvement of gap junctional communication in secretion.

Glands were the first type of tissues in which the permissive role of gap junctions in the cell-to-cell transfer of membrane-impermeant molecules was shown. During the 40 years that have followed this seminal finding, gap junctions have been documented in all types of multicellular secretory systems, whether of the exocrine, endocrine or pheromonal nature. Also, compelling evidence now indicates that gap junction-mediated coupling, and/or the connexin proteins per se, play significant regulatory roles in various aspects of gland functions, ranging from the biosynthesis, storage and release of a variety of secretory products, to the control of the growth and differentiation of secretory cells, and to the regulation of gland morphogenesis.

Conversely to its sibling Drosophila melanogaster, D. simulans overcomes the immunosuppressive effects of the parasitoid Asobara citri.

The endoparasitoid Asobara citri avoids Drosophila melanogaster immune defenses, thanks to immune suppressive effects. We investigated whether this parasitoid could also circumvent the immune reaction of D. simulans, a sibling species of D.

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Permanent neonatal diabetes (PND), requiring insulin within the first months of life, is unexplained at the molecular level in most cases. It has very recently been shown that heterozygous activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive K(+) channel involved in the regulation of insulin secretion, cause PND.

Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p.

The genetic background that predisposes the Japanese population to type 2 diabetes is largely unknown. Therefore, we conducted a 10-cM genome-wide scan for type 2 diabetes traits in the 359 affected individuals from 159 families, yielding 224 affected sib-pairs of Japanese origin. Nonparametric multipoint linkage analyses performed in the whole population showed one suggestive linked region on 11p13-p12 (maximum logarithm of odds score [MLS] 3.

Premedication with midazolam in children. Effect of intranasal, rectal and oral routes on plasma midazolam concentrations.

We report a study performed to compare the time and plasma drug concentrations necessary to achieve a similar state of sedation after midazolam premedication given by various routes in children of 2-5 years old. Children were randomly allocated to one of three groups to receive midazolam 0.2 mg.

An armoured endotracheal tube obstruction in a child.

The case of a child whose tracheal tube became obstructed intraoperatively 30 minutes after intubation is reported. It appears that this obstruction was related to the development of bubbles within the walls which expanded upon exposure to nitrous oxide and diffusion of that gas into the bubbles. The authors want to point out the risk of gas diffusion into the walls of the tube and the possibility that repeated sterilization may enhance the development of bubbles.

[Halogenated inhalation anesthesia with a semiclosed circle system].

Thirty-six patients were anaesthetized for a maxillofacial surgical procedure. Ventilation was controlled by a ventilator (Kontron ABT 4100) with a semi-closed circle system. The flow of fresh gases was 1,200 ml.

[An original intubation technic in a child with Pierre Robin syndrome].

Infants with Pierre Robin syndrome often present the anaesthesiologist with the challenge of upper airway obstruction and difficult tracheal intubation. An unconventional method for solving this problem was used in a 2 week old 2.2 kg term male infant who presented with severe micrognathia, a widely cleft palate and extreme glossoptosis.

[Anesthetic aspects of the primary treatment of labio-maxillo-palatal clefts].

This study of 97 operations discusses our anaesthetic experience for labio-maxillary clefts and the problems which arise for the anaesthetist during pre-inter and post surgical periods. This type of functional surgery is carried out on children between 4 and 23 months old, of which 22% presented with associated malformations. Paediatric anaesthetic characteristics in a maxillo-facial context are discussed in detail.

[Use of ventilation by oxygen injection in laryngeal microsurgery].

Thirty patients with a laryngeal polyp or other tumour, were operated on under the microscope. During the operation, which lasted from 10 to 30 minutes, ventilation was ensured by injection of oxygen at 3 to 4 atmospheric pressures through a naso-tracheal catheter. Anaesthesia was obtained by an association of propanidide, small doses of analgesic and succinycholine, constant rate syringes were used for maintenance of narcosis and curarisation.