Self-Mixing Interferometer for Acoustic Measurements through Vibrometric Calibration.

The Self-Mixing Interformeter (SMI) is a self-aligned optical interferometer which has been used for acoustic wave sensing in air through the acousto-optic effect. This paper presents how to use a SMI for the measurement of Sound Pressure Level (SPL) in acoustic waveguides. To achieve this, the SMI is first calibrated in situ as a vibrometer.

Sensitivity of an optical feedback interferometer for acoustic waves measurements.

This work presents a sensitivity study on the use of an optical feedback interferometer to measure acoustic pressure from plane waves. The sensitivity is established by linearising the interferometer's governing equations. It is shown to be independent of the acoustic wave frequency but dependent on configuration parameters such as the optical feedback parameter or the length of the laser through which the acoustic wave passes.

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

Background: Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the hepatocyte nuclear factor-1 alpha (HNF1A) gene, which induces the proliferation of adenoma cells in liver parenchyma. Liver adenomatosis has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of patients with HNF1A-maturity onset diabetes of the young (MODY), previously termed "MODY3," and herein describe its clinical, radiological, and pathological characteristics.

Cancellation of room reflections over an extended area using Ambisonics.

This paper investigates the compensation of room reflections based on Ambisonics. A multichannel room equalization method for Ambisonic playback systems is proposed. The compensation filters are designed to operate in the spherical harmonics domain, prior to the decoding step.

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D.

Methods: Cases were children with T1D from the French Isis-Diab cohort.

Expression and regulation of INTELECTIN1 in human granulosa-lutein cells: role in IGF-1-induced steroidogenesis through NAMPT.

INTELECTIN (ITLN) is an adipokine involved in the regulation of insulin sensitivity and inflammatory and immunity responses. Serum ITLN levels are lower in obese, diabetic, and polycystic ovary syndrome (PCOS) women than in control subjects. ITLN has never been studied in ovarian cells.

[Type 2 diabetes in France: epidemiology, trends of medical care, social and economic burden].

Between 2001 and 2007, treatments for type 2 diabetes have increased and therapeutic choices have improved. However glycemic control remains insufficient. Cardiovascular risk control has widely increased.

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.

Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners.

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

Objectives: Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue.

Material And Methods: Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency.

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

Context: Pituitary stalk interruption represents a frequent feature of congenital hypopituitarism, but only rare cases have been assigned to a known genetic cause.

Objective: Using a candidate gene approach, we tested several genes as potential causes of hypopituitarism with pituitary stalk interruption. We hypothesized that ectopic posterior pituitary may be a consequence of defective neuronal axon projections along the pituitary stalk or defective angiogenesis of hypophyseal portal circulation.

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

Familial isolated pituitary adenoma (FIPA) occurs in families and is unrelated to multiple endocrine neoplasia type 1 and Carney complex. Mutations in AIP account only for 15-25% of FIPA families. CDKN1B mutations cause MEN4 in which affected patients can suffer from pituitary adenomas.

Von Hippel-Lindau disease and aggressive GH-PRL pituitary adenoma in a young boy.

Von Hippel-Lindau disease is an autosomal dominant disorder involving the development of specific tumours in multiple organs, both benign and malignant. In the CNS, the syndrome is characterized by haemangioblastomas of the retina, spinal cord and brain. We report the case of a 15-year-old boy with the diagnosis of aggressive GH-PRL pituitary macroadenoma and a family history of VHL disease.

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Context: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway.

Objective: To evaluate the prevalence of TAC3/TACR3 mutations, characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH caused by deleterious TAC3/TACR3 biallelic mutations.

Reproducibility and validity of the French version of the long international physical activity questionnaire in patients with type 2 diabetes.

Background: Increasing physical activity and decreasing sedentary time are cornerstones in the management of type 2 diabetes (T2DM). However, there are few instruments available to measure physical activity in this population. We translated the long version of the International Physical Activity Questionnaire (IPAQ-L) into French and studied its reproducibility and validity in patients with T2DM.

Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.

Context: The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed.

Objective: The objective of the study was to describe the phenotypes of a large series of MODY3 patients and to reassess parameters that may improve its diagnosis.

Design, Setting, And Patients: This retrospective multicenter study included 487 unrelated patients referred because of suspicion of MODY3.

Ultrasound Brain Tissue Pulsatility is decreased in middle aged and elderly type 2 diabetic patients with depression.

We used Tissue Pulsatility Imaging (TPI) to compare the Brain Tissue Pulsatility (BTP) in depressed (n=11) and non-depressed (n=13) type-2 diabetic non-demented patients aged 50 years and older. Both maximum and mean BTP were significantly decreased in depressed diabetic subjects compared to non-depressed diabetic subjects.

A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.

Objective: The calcium-sensing receptor (CASR) has an important role in calcium homoeostasis by controlling PTH secretion and renal calcium handling. Inactivating mutations in the CASR gene (HGNC ID: 1514) cause familial hypocalciuric hypercalcaemia (FHH). We present a case of FHH patient to describe a novel mutation in the CASR.

Trends in the quality of care for elderly people with type 2 diabetes: the need for improvements in safety and quality (the 2001 and 2007 ENTRED Surveys).

Aim: This study aimed to characterize the sociodemographic data, health status, quality of care and 6-year trends in elderly people with type 2 diabetes.

Methods: This study used two French cross-sectional representative surveys of adults of all ages with all types of diabetes (Entred 2001 and 2007), which combined medical claims, and patient and medical provider questionnaires. The 2007 data in patients with type 2 diabetes aged 65 years or over (n=1766) were described and compared with the 2001 data (n=1801).

Low high density lipoprotein cholesterol: prevalence and associated risk-factors in a large French population.

Purpose: High density lipoprotein-cholesterol (HDL-C) is a strong predictor of cardiovascular risk. We investigated the distribution of HDL-C in a French general population according to age, sex, and the risk factors associated with low HDL-C values.

Methods: A group of 18,483 men and 22,047 women 16-79 years of age were investigated during a medical check-up.

[BRAF V600E mutation in papillary thyroid carcinoma: prevalence and detection in fine needle aspiration specimens].

Unlabelled: BRAF V600E mutation in papillary thyroid carcinoma (PTC): prevalence and detection in fine needle aspiration (FNA) specimens.

Background And Objective: The activating mutation of the BRAF gene, T1799A, is the most common and specific genetic alteration in PTC. In the present study, our aims were to confirm these data and investigate the feasibility of BRAF mutation detection in FNA specimens.

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

Pseudohypoparathyroidism (PHP) covers a heterogeneous group of disorders, which have in common resistance to parathyroid hormone (PTH). However, they differ in many aspects such as site of the defect in signal transduction, clinical picture (with or without Albright's hereditary osteodystrophy (AHO)), extension of hormone resistance, and the tissue activity of protein Gs. PHP type Ic, a rare subtype, is characterized by resistance to several hormones, the presence of AHO, and normal activity of protein Gs.

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Context: Germline mutations in SDHx genes cause hereditary paraganglioma.

Objective: The aim of the study was to assess the indications for succinate dehydrogenase (SDH) genetic testing in a prospective study.

Design: A total of 445 patients with head and neck and/or thoracic-abdominal or pelvic paragangliomas were recruited over 5 yr in 20 referral centers.

Adiponectin increases insulin-like growth factor I-induced progesterone and estradiol secretion in human granulosa cells.

Objective: To identify adiponectin and its receptors (AdipoR1 and AdipoR2) in human granulosa cells (GC) and to study the effects of recombinant human adiponectin on P and E(2) secretion from these cells.

Design: The effects of recombinant human adiponectin on the secretion of P and E(2) by cultured human GCs were investigated.

Setting: Academic institutions.

Usefulness of adrenal scintigraphy in the follow-up of adrenocortical incidentalomas: a prospective multicenter study.

Objectives: Prognostic factors for progression of benign adrenocortical adenomas (AI) remain poorly known. We assessed the usefulness of (131)I-6-beta-iodomethylnorcholesterol scintigraphy (IMS) to predict the occurrence of adrenal hyperfunction or mass enlargement.

Design: Fifty-one consecutive inpatients with unilateral AI and normal 24-h urinary free cortisol (UFC) were enrolled in a multicenter observational prospective study to investigate the relationship between the scintigraphic pattern and the progression of biological abnormalities of the hypothalamo-pituitary-adrenal axis or tumor size.