Upper body involvement in GNE myopathy assessed by muscle imaging.

Upper body muscle involvement has never been systematically investigated in GNE myopathy (GNEM). Aims of our study were to explore upper body involvement in GNEM patients by means of muscle MRI, to compare the degree of pathology with that of lower body and to validate the MRI pattern of the lower limbs in novel patients. MRI scans of 9 GNEM patients were retrospectively evaluated. T1-weighted and short-tau inversion recovery images were scored. As a result, serratus anterior was involved in all patients, followed by subscapularis and trapezius muscles. The majority of scans consistently showed hypotrophy of pectoralis minor. Conversely, cranial muscles including the tongue were always spared while pectoralis major and latissimus dorsi were relatively spared. We confirmed the known pattern of involvement in the pelvic girdle and limbs, that were more significantly affected than the upper girdle in all disease stages. Paraspinal muscles were also frequently affected displaying both a cranio-caudal and latero-medial gradient of severity along the body axis. Upper girdle MRI highlights a selective muscle involvement in GNEM, offering an added value in patients' diagnostic workup and deep stratification.

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.

BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.

Insulinoma: A Rare Cause of Hypoglycemia in Childhood.

BACKGROUND Insulinomas are pancreatic neuroendocrine tumors that cause non-ketotic hypoglycemia due to hyperinsulinism; they are extremely rare, especially in children. CASE REPORT We present a case of a sporadic insulinoma in an 11-year-old boy who had episodes of self-limited drowsiness and behavior changes over a 3-month period, thought to be caused by psychological issues. Non-ketotic hypoglycemia was confirmed at our center. A fasting blood test found inappropriately elevated insulin levels during hypoglycemia, undetectable ß-hydroxybutyrate, and increased C-peptide levels in line with insulin levels. Anti-insulin antibodies were negative and antidiabetic drugs untraceable. The glucagon-stimulation test was positive. Growth hormone, adrenocorticotropin hormone, and phosphorus and calcium metabolism were normal. Dual-phase computed tomography detected a lesion compatible with an insulinoma. Endoscopic ultrasound showed a homogenous lesion at the junction of the body and tail of the pancreas. Histologic analysis of a fine-needle aspiration biopsy was compatible with neuroendocrine neoplasia. Preoperatively, a fractional diet avoiding fast-absorbing carbohydrates maintained normal glucose blood levels. Enucleation was not possible, so the lesion was resected along with portions of the body and tail of the pancreas. The well-differentiated tumor measured 15 mm x 13 mm. Postoperative blood glucose levels were correct, allowing a normal diet. CONCLUSIONS In children with unspecific symptoms compatible with hypoglycemia, blood glucose must be evaluated to confirm low blood glucose levels. Determining blood ketone levels is important for the differential diagnosis. The diagnostic approach to pediatric insulinoma represents a challenge for multidisciplinary teamwork.

A route to small clusters: a twisted half-hexagram-shaped M4(OH)4 cluster and its capacity for hosting closed-shell metals.

By combining different oxidation states, coordination indices and bridging systems, it has been possible to obtain the structurally novel M4(OH)4 cluster core (M = transition metal) found in the organometallic compound (NBu4)2[PtIVPt(C6Cl5)8(µ2-OH)2(µ3-OH)2] (1). The cluster is formed by two (µ3-OH) and two (µ2-OH) units that bond platinum atoms in different oxidation states. The cluster core geometry can best be described as a half-hexagram. Compound 1 is an excellent precursor for preparing heterometallic clusters since it can host d10 or s2 Lewis-acid metal centers through Pt→M dative bonds, as demonstrated by its reaction with Ag(i) to produce the heterometallic [Ag2PtIVPt(C6Cl5)8(µ2-OH)2(µ3-OH)2] (2), which has four unbridged Pt-Ag bonds.

[Endometriosis Fertility Index, or classification of the American Society of Reproductive Medicine for postoperative endometriosis patients with infertility: Which is more relevant?]. / Endometriosis Fertility Index ou classification de l'American Society of Reproductive Medicine pour les patientes infertiles endométriosiques opérées. Lequel est le plus pertinent ?

The revised American Fertility Society classification system has been most used after surgery by all consensus on endometriosis fertility. However, it does not predict pregnancy. The EFI score has been recently developed to aim at predicting clinical pregnancy after surgery. Several study performed its external validation. It may be a useful new tool to counsel couples for personalized postoperative management.

Las barreras percibidas en mujeres con incontinencia urinaria / No disponible

El objetivo de esta investigación es identificar las barreras que perciben mujeres con incontinencia urinaria (IU) para emprender una conducta encaminada a la resolución de su problema con la orina. Se trata de un estudio cualitativo con la participación de 34 mujeres de la provincia de Barcelona (España). Los datos se recogieron mediante entrevistas en profundidad y la técnica del grupo focal. La selección de la muestra fue intencional o de conveniencia y el análisis categorial temático se realizó a partir de las transcripciones de los discursos de las participantes. Los resultados muestran que entre las barreras percibidas respecto a la búsqueda de ayuda para su IU, están la falta de conciencia de la IU como enfermedad, unos conocimientos deficientes respecto a la misma y la propia actitud y práctica de algunos médicos. La falta de tiempo y el cansancio las impide autocuidarse. La pereza, la falta de voluntad o de constancia en la realización de los ejercicios del suelo pélvico obstaculizan su ejecución, así como el coste económico de los centros de rehabilitación privados. Se concluye que se debe empoderar a la mujer, apoyarla y ayudarla en la realización de las conductas promotoras de salud para su IU

The objective of this research is to identify the barriers they perceive women with urinary incontinence (UI) for preventing them from undertaking conduct aimed at solving your problem with urine. This is a qualitative study involving 34 women in the province of Barcelona (Spain). Data were collected through in-depth interviews and focus group technique. The sample selection was intentional or convenience categorical and thematic analysis was conducted from the transcripts of the speeches of the participants. The results show that perceived barriers regarding seeking help for UI, is the lack of awareness of the UI as a disease, a deficient knowledge about it and the right attitude and practice of some doctors. The lack of time and fatigue prevents them self-care. Laziness, lack of will or perseverance in performing pelvic floor exercises, impeding its implementation as well as the economic cost of private rehabilitation centers. It is concluded that should empower women, support and assist in the conduct of health promoting behaviors for IU

[Oncofertility program at the Montpellier university hospital 2 years after]. / Programme de préservation de la fertilité féminine au CHRU de Montpellier 2ans après.

OBJECTIVE: Female fertility preservation in the context of cancer management is crucial for patient's health care. The aim of this study was to evaluate the oncofertility practice at our university hospital of Montpellier since 2011. PATIENTS AND METHODS: The evaluation of management of young patients referred to Montpellier University Hospital from September 2011 to September 2013 for oncofertility counselling before cancer treatment. RESULTS: Seventy-one patients were referred to a specialized oncofertility center. Forty-two patients (59.1%) were included in the oncofertility program. Twenty-two patients (31%) were proposed for oocyte vitrification after COS protocol, eight patients (11.3%) for ovarian tissue cryoconservation, seven patients (9.9%) for GnRH injections, three patients (4.2%) ovarian transposition and two patients (2.8%) for embryo cryopreservation. Among the 42 indications of fertility preservation, only 18 will have finally taken place. CONCLUSION: Oncofertility counselling for young patients should now be part of the cancer management. It involves multidisciplinary teams. Further information of both oncologists and patients is needed to improve this new approach in the field of cancer treatments.

[Evaluation of urine postvoid residuals in post-partum period: a prospective and descriptive clinical study]. / Évaluation des résidus postmictionnels du postpartum: étude prospective descriptive.

INTRODUCTION: Few studies have evaluated urine postvoid residuals (PVRs) and their risk factors during the post-partum (PP) period. The aim of this prospective study was to screen postvoid residuals in a cohort of patients in PP, and to identify the risk factors. MATERIALS AND METHODS: For three months, patients in PP were given an evaluation of their PVR (ultrasounds method) after a spontaneous urination. Clinical data as regards delivery were collected. RESULTS: One hundred and sixty-eight patients were included. Among them, 61% had a urine volume at the first urination over 500 mL, and 52% presented with a pathological PVR (PVR over 150 mL for a urine volume over 150 mL). The median PVR was 153.50 mL. The median volume of the first spontaneous urination was 400 mL. Among patients with a pathological PVR, the total duration of the labor and the duration of its second phase were significantly longer (P=0.003 and P<0.05, respectively), and the volume of the first urination was higher. Indwelling catheterization during the delivery decreased the volume of the first spontaneous urination (volume over 500 mL in 28% vs 72% of patients, P=0.017) but was not associated with a decreased PVR in non-pathological deliveries. Instrumental deliveries were associated with higher PVRs than caesarean or physiological deliveries (244 mL, 180 mL et 156 mL; P=0.033). A bacteriuria was not significantly associated with PVR (54% vs 49%, P>0.05). CONCLUSION: We were able to identify risk factors for PVR in the PP, such as the duration of labor, instrumental delivery and elevated volume of the first urination after delivery.