OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transition zone of the primary cilia or the closely associated distal end of centrioles. These two structures are essential for the formation of functional cilia, and for signaling events during development. We report here causal compound heterozygous mutations of KIAA0753/OFIP in a patient with an OFD VI syndrome.

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH.

Metabolic syndrome and social deprivation: results of a French observational multicentre survey.

Background: Deprivation, a process that prevents people to assume their social responsibilities, is a main cause of inequalities in health. Metabolic syndrome has a growing prevalence in France.

Objectives: To assess the association between deprivation and the metabolic syndrome and to identify the most relevant waist circumference cut-off point.

Stent Thrombosis in Drug-Eluting or Bare-Metal Stents in Patients Receiving Dual Antiplatelet Therapy.

Objectives: This study sought to compare rates of stent thrombosis and major adverse cardiac and cerebrovascular events (MACCE) (composite of death, myocardial infarction, or stroke) after coronary stenting with drug-eluting stents (DES) versus bare-metal stents (BMS) in patients who participated in the DAPT (Dual Antiplatelet Therapy) study, an international multicenter randomized trial comparing 30 versus 12 months of dual antiplatelet therapy in subjects undergoing coronary stenting with either DES or BMS.

Background: Despite antirestenotic efficacy of coronary DES compared with BMS, the relative risk of stent thrombosis and adverse cardiovascular events is unclear. Many clinicians perceive BMS to be associated with fewer adverse ischemic events and to require shorter-duration dual antiplatelet therapy than DES.

A targeted functional RNA interference screen uncovers glypican 5 as an entry factor for hepatitis B and D viruses.

Unlabelled: Chronic hepatitis B and D infections are major causes of liver disease and hepatocellular carcinoma worldwide. Efficient therapeutic approaches for cure are absent. Sharing the same envelope proteins, hepatitis B virus and hepatitis delta virus use the sodium/taurocholate cotransporting polypeptide (a bile acid transporter) as a receptor to enter hepatocytes.

[Training of residents in obstetrics and gynecology: Assessment of an educational program including formal lectures and practical sessions using simulators].

Objectives: Evaluate an educational program in the training of residents in gynecology-obstetrics (GO) with a theory session and a practical session on simulators and analyze their learning curve.

Methods: Single-center prospective study, at the university hospital (CHU). Two-day sessions were leaded in April and July 2013.

Association of Cardiometabolic Multimorbidity With Mortality.

Importance: The prevalence of cardiometabolic multimorbidity is increasing.

Objective: To estimate reductions in life expectancy associated with cardiometabolic multimorbidity.

Design, Setting, And Participants: Age- and sex-adjusted mortality rates and hazard ratios (HRs) were calculated using individual participant data from the Emerging Risk Factors Collaboration (689,300 participants; 91 cohorts; years of baseline surveys: 1960-2007; latest mortality follow-up: April 2013; 128,843 deaths).

A New Integrated Clinical-Biohumoral Model to Predict Functionally Significant Coronary Artery Disease in Patients With Chronic Chest Pain.

Background: In patients with chronic angina-like chest pain, the probability of coronary artery disease (CAD) is estimated by symptoms, age, and sex according to the Genders clinical model. We investigated the incremental value of circulating biomarkers over the Genders model to predict functionally significant CAD in patients with chronic chest pain.

Methods: In 527 patients (60.

Antiplatelet therapy duration following bare metal or drug-eluting coronary stents: the dual antiplatelet therapy randomized clinical trial.

Importance: Despite antirestenotic efficacy of coronary drug-eluting stents (DES) compared with bare metal stents (BMS), the relative risk of stent thrombosis and adverse cardiovascular events is unclear. Although dual antiplatelet therapy (DAPT) beyond 1 year provides ischemic event protection after DES, ischemic event risk is perceived to be less after BMS, and the appropriate duration of DAPT after BMS is unknown.

Objective: To compare (1) rates of stent thrombosis and major adverse cardiac and cerebrovascular events (MACCE; composite of death, myocardial infarction, or stroke) after 30 vs 12 months of thienopyridine in patients treated with BMS taking aspirin and (2) treatment duration effect within the combined cohorts of randomized patients treated with DES or BMS as prespecified secondary analyses.

Detection of significant coronary artery disease by noninvasive anatomical and functional imaging.

Background: The choice of imaging techniques in patients with suspected coronary artery disease (CAD) varies between countries, regions, and hospitals. This prospective, multicenter, comparative effectiveness study was designed to assess the relative accuracy of commonly used imaging techniques for identifying patients with significant CAD.

Methods And Results: A total of 475 patients with stable chest pain and intermediate likelihood of CAD underwent coronary computed tomographic angiography and stress myocardial perfusion imaging by single photon emission computed tomography or positron emission tomography, and ventricular wall motion imaging by stress echocardiography or cardiac magnetic resonance.

[Instrumental extractions using Thierry's spatulas: evaluation of the learning curve].

Objectives: To determine the learning curve of fetal extractions with Thierry's spatulas.

Patients And Methods: Single-center prospective study following the progress of six residents in obstetrics and gynecology in learning fetal extractions by Thierry's spatulas. The instrumental extractions procedures performed by the residents were evaluated by the senior obstetrician on call according to a validated scoring rubric.

Randomized, phase 2 trial of low-dose cytarabine with or without volasertib in AML patients not suitable for induction therapy.

Treatment outcomes for older patients with acute myeloid leukemia (AML) have remained dismal. This randomized, phase 2 trial in AML patients not considered suitable for intensive induction therapy compared low-dose cytarabine (LDAC) with or without volasertib, a highly potent and selective inhibitor of polo-like kinases. Eighty-seven patients (median age 75 years) received LDAC 20 mg twice daily subcutaneously days 1-10 or LDAC + volasertib 350 mg IV days 1 + 15 every 4 weeks.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation.

Dermatological spectrum of hand, foot and mouth disease from classical to generalized exanthema.

Background: Hand, foot and mouth disease (HFMD) is classically defined as a childhood fever accompanied by a rash with vesicles or erosions of the oral mucosa, hands, feet and sometimes the buttocks. Severe neurological complications are associated with enterovirus 71 outbreaks in Asia. Recently, it has been suggested that HFMD is related to coxsackie virus A6 (CV-A6) when there is an atypical rash.

[Diagnosis of fetal engagement by transperineal sonography: a preliminary Tunisian study].

Introduction: The assessment of fetal head engagement by digital examination is highly subjective even though this method remains the gold standard. Ultrasound could be a new way to specify the fetal head engagement with objective and reproductible measurements.

Objective: To compare the clinical data and the transperineal ultrasound results for the diagnosis of fetal head engagement.

[A case of intrahepatic gastrinoma].

The Zollinger-Ellison syndrome is due to an endocrine gastrin-secreting tumor, the gastrinoma. This tumor is often malignant and patients develop metastases in 25% of cases. The usual localizations of gastrinomas are at the head of the pancreas, the duodenal wall and the peripancreatic lymph nodes.

In situ intestinal ischemia-reperfusion injury in the pig: a model using the first jejunal artery for flushing.

Background: We describe a new surgical technique of in situ intestinal ischemia-reperfusion injury in the pig, which includes transection of the small bowel, extrinsic autonomic denervation, lymphatic disruption, and finally in-situ cold ischemia of the graft by flushing through the first jejunal artery.

Material And Methods: Ten female pigs were used for the study. All neural and lymphatic connections to the jejunoileum were transected.

[Intestinal transplantation].

Even though surgical techniques for isolated intestine, liver-intestine, and multivisceral transplantations were developed in the 1960's, very few patients were transplanted before 1990 because initial immunosuppression regimens were insufficient, making intestine transplantation impossible. Intestine transplantation resulted in death in most patients within days or months. The discouraging results of the first clinical trials were due to technical complications, sepsis, and the failure of conventional immunosuppression to control rejection.

Molecular epidemiology of an outbreak of multiresistant Klebsiella pneumoniae in a Tunisian neonatal ward.

During the first quarter of 1996, a major outbreak of clinical infection caused by multiresistant Klebsiella pneumoniae (MRKP) occurred in the neonatal ward of the 'Maternité Wassila Bourguiba' in Tunis, Tunisia. In total, 32 isolates of MRKP, comprising 23 clinical isolates and nine surveillance isolates, were recovered during this period and analysed for epidemiological relatedness. The isolates were compared with 17 other isolates of MRKP that were recovered during 1995.

[Surgical treatment of anterior rectoceles in women. The perioneal-vaginal approach].

Rectoceles are best repaired via a perineal approach. The transperineovaginal approach provides access to the outer side of the rectocele: the rectal hernia is repaired with two or three purse-string sutures and suture of the rectal fascia. Levatorplasty, performed without narrowing of the vagina, reinforces the repair and strengthens the lax pelvic floor.