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.

[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.

[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.

[Effects of artificial shrinkage prior to vitrification in a closed system: a randomized controlled trial]. / Effets de la réduction artificielle du blastocèle avant vitrification en système fermé : étude contrôlée randomisée.

OBJECTIVE: To evaluate the effect of induced blastocoele shrinkage before vitrification in a closed carrier device. PATIENTS AND METHODS: Prior to vitrification, blastocyst cavity was artificially shrinked by laser pulse or not treated according to a 2:1 randomized procedure. A total of 185 warming cycles from April 2011 to March 2013 have been analyzed. Clinical pregnancy rate and survival rate were compared between the two groups. The mean (±SD) women age was 33.5±5.7 years for both groups. RESULTS: The pregnancy rate in the group with artificial reduction of the cavity was higher ([32/67] 47.7%) than in the control group but not significantly ([43/113] 38%). The survival rate in the artificial shrinkage group was significantly higher compared with the control group : 99% (102/103) and 91.8% (168/183) respectively (P=0.01). DISCUSSION AND CONCLUSION: This study reveals that artificial shrinkage of blastocoelic cavity by laser pulse before vitrification in a closed carrier device improves survival rate after warming.

Cell-free DNA in human follicular fluid as a biomarker of embryo quality.

STUDY QUESTION: Could cell-free DNA (cfDNA) quantification in individual human follicular fluid (FF) samples become a new non-invasive predictive biomarker for in vitro fertilization (IVF) outcomes? SUMMARY ANSWER: CfDNA level in human follicular fluid samples was significantly correlated with embryo quality and could be used as an innovative non-invasive biomarker to improve IVF outcomes. WHAT IS KNOWN ALREADY: CfDNA fragments, resulting from apoptotic or necrotic events, are present in the bloodstream and their quantification is already used as a biomarker for gynaecological and pregnancy disorders. Follicular fluid is important for oocyte development and contains plasma components and factors secreted by granulosa cells during folliculogenesis. CfDNA presence in follicular fluid and its potential use as an IVF outcome biomarker have never been investigated. STUDY DESIGN, SIZE, DURATION: One hundred individual follicular fluid samples were collected from 43 female patients undergoing conventional IVF (n = 26) or ICSI (n = 17). CfDNA level was quantified in each individual follicular fluid sample. PARTICIPANTS/MATERIALS, SETTING, METHODS: At oocyte collection day, follicles were aspirated individually. Only blood-free follicular fluid samples were included in the study. Follicle size was calculated based on the follicular fluid volume. Each corresponding cumulus-oocyte complex was isolated for IVF or ICSI procedures. Follicular fluid cfDNA was measured by quantitative PCR with ALU-specific primers. MAIN RESULTS AND THE ROLE OF CHANCE: Human follicular fluid samples from individual follicles contain measurable amounts of cfDNA (mean ± SD, 1.62 ± 2.08 ng/µl). CfDNA level was significantly higher in small follicles (8-12 mm in diameter) than in large ones (>18 mm) (mean ± SD, 2.54 ± 0.78 ng/µl versus 0.71 ± 0.44 ng/µl, respectively, P = 0.007). Moreover, cfDNA concentration was significantly and negatively correlated with follicle size (r = -0.34; P = 0.003). A weak significant negative correlation between DNA integrity and 17ß-estradiol level in follicular fluid samples at oocyte collection day was observed (r = -0.26; P = 0.008). CfDNA level in follicular fluid samples corresponding to top quality embryos was significantly lower than in follicular fluid samples related to poor quality embryos (P = 0.022). Similarly, cfDNA level was also significantly lower in follicular fluid samples related to embryos with low fragmentation rate (≤25%) than with high fragmentation rate (>25%) (P = 0.02). LIMITATIONS, REASONS FOR CAUTION: A larger study should be conducted in order to establish the predictive value of cfDNA level for embryo quality and to investigate whether follicular fluid cfDNA levels are correlated with embryo implantation rates and pregnancy outcomes. Moreover, the role of follicular fluid cfDNA on embryo quality should be studied to determine whether high cfDNA concentration in follicular fluid is only a consequence or also a cause of follicular dysfunction. WIDER IMPLICATIONS OF THE FINDINGS: CfDNA evaluation in individual follicular fluid samples might represent an innovative biomarker of embryo quality to use as a supplemental tool to predict embryo quality during IVF. STUDY FUNDING/COMPETING INTERESTS: This study was partially supported by the University Hospital of Montpellier and Ferring Pharmaceuticals. The authors of the study have no competing interests to report.

Homoleptic organocobalt(III) compounds with intermediate spin.

Homoleptic organocobalt(III) compounds with formula [NBu4][Co(III)(C6X5)4] [X = F (3), Cl (4)] were obtained in reasonable yields by chemical oxidation of the corresponding divalent species [NBu4]2[Co(II)(C6X5)4] [X = F (1), Cl (2)]. The [Co(III)(C6X5)4](-)/[Co(II)(C6X5)4](2-) couples are electrochemically related by quasi-reversible, one-electron exchange processes at moderate potential: E1/2 = -0.29 (X = F) and -0.36 V (X = Cl) versus saturated calomel electrode. The [Co(III)(C6X5)4](-) anions in salts 3 and 4 show an unusual square-planar geometry as established by single-crystal X-ray diffraction methods. According to their stereochemistry, these Co(III) derivatives (d(6)) are paramagnetic non-Kramers systems with a large zero-field splitting contribution and no observable electron paramagnetic resonance (EPR) spectrum. The thermal dependence of their magnetic susceptibilities can be explained in terms of a spin-Hamiltonian formalism with S = 1 ground state (intermediate spin) and substantial spin-orbit contribution. The magnetic properties of the square-planar d(7) parent species [NBu4]2[Co(II)(C6X5)4] were also thoroughly studied both at microscopic (EPR) and macroscopic levels (alternating current and direct current magnetization measurements). They behave as S = 1/2 (low spin) systems with mainly (dz(2))(1) electron configuration and a certain degree of s-orbital admixture that has been quantified. The electronic structures of all four open-shell [Co(C6X5)4](q-) compounds (q = 1, 2) accounting for their respective magnetic properties are based on a common orbital energy-level diagram.

[Circulating nucleic acids and in vitro fertilization]. / Acides nucléiques circulants et fécondation in vitro.

During the last years, the use of circulating nucleic acids (microRNAs and cell-free DNA) as diagnostic and/or prognostic tools in cancerology was widely documented. Likewise, in obstetrics and gynecology, the development of non-invasive prenatal testing based on the assessment of these biomarkers confirmed their growing interest in this speciality. In human reproduction, several studies were interested in the microRNAs, small non-coding RNA sequences, present in the ovarian follicle and their implication in folliculogenesis. Some of these microRNAs, as well as the vesicles which transport them, are easily detectable in the bloodstream and could be used as reliable biomarkers of interest in infertility care. Cell-free DNA level varies according to physiopathology and reflect the proportion of apoptotic and/or necrotic events occurring in the body. As a result, its quantification could give an additional help to the practitioners for ovarian functional status evaluation. Furthermore, these circulating nucleic acids could also constitute new predictive biomarkers of oocyte and/or embryo quality and represent a promising perspective for the prevention of in vitro fertilization implantation failures. In conclusion, these circulating nucleic acids open the way to the development of new diagnostic and/or prognostic innovative tests in order to improve in vitro fertilization outcomes.

Mononuclear anionic AO(2)X(3) compounds with non-VSEPR structure.

The molybdenyl compound [NBu4][MoO2(C6F5)3] () has been obtained by low-temperature treatment of MoO2Cl2 with LiC6F5 in Et2O followed by addition of [NBu4]Br. This compound of the (AO2X3)(-) type shows an unusual five-coordinate structure not lying in the Berry-pseudorotation path: it can be described rather as an edge-capped tetrahedron (TE-5). The same kind of structure has been found by DFT calculations to be the most energetically favored for the mononuclear (MoO2X3)(-) model species, where X = H, Cl or CN. Compound exhibits marked stereochemical stability, as it shows no sign of exchange between chemically inequivalent C6F5 groups even at 150 °C in dmf solution ((19)F NMR spectroscopy).

[Sexual pain disorders in females and males]. / Douleurs sexuelles de l'homme et de la femme.

INTRODUCTION: The occurrence of pain during sex is one of the most common complaints in gynecological and sexological practice but nonetheless one of the most difficult problems to deal with and treat effectively. METHODS: A literature review was conducted on Medline considering the articles listed until January 2012 dealing with sexual pain in women and men. RESULTS: The different descriptions of painful intercourse (dyspareunia, vestibulo-vulvodynies, vaginismus) are not separate entities but the result of the interaction of many factors including genital pain, emotional and behavioral responses to penetration, caresses, desire and excitement, in a context of possible organic pathology (infection, endometriosis, inflammatory or dermatological disease, morphological or pelvic abnormality, hormonal deficiency) sometimes associated with chronic pain phenomena self-sustained by neurogenic inflammation. The clinical expression of sexual pain is as variable as its causes are many. The etiological investigation is essential but should not omit the sexological context and the need for appropriate management. The neurogenic inflammation and hypersensitivity impose an algological approach associated to etiological and sexological treatment. CONCLUSION: Chronic sexual pains, whether they are superficial or deep, can be the sign of organic or psycho-sexual (primary or secondary) disorders. The development of a "therapeutic program" helps patients, allows them to restore self-confidence and leads to the disappearance of the symptom in more than half cases.

[Sex-related injuries]. / Traumatismes sexuels.

OBJECTIVE: To describe the injuries occurring during consensual or not sexual intercourses, or during particular sexual practices and their medical, surgical and forensic care. METHODS: We reviewed the literature using PubMed database to clarify the diagnostic and therapeutic approach of: (1) in men: fracture of the corpora cavernosa, penile and urethral foreign bodies (piercing, rings) as well as amputation of penis; (2) in women: trauma during consensual or not sexual intercourses. RESULTS: In men, the most common pathology is the rupture of the tunica albuginea of the corpora cavernosa on the erect penis. The diversity of sexual practices, however, exposes urologists to meet trauma less ordinary: strangulation of the penis by rings, genital piercing complications or introduction of foreign bodies into the urethra or under the skin. Less common are traumatic amputations of the penis. In women, sexual trauma are often benign in their clinical presentation but generally occur in the context of sexual violence and require psychological support, forensic and prevention of sexually transmitted infections. CONCLUSION: The literature is mainly based on expert opinion and single-center retrospective series. We summarized for each situation epidemiology, diagnosis and treatment.

Surgical management of endometriosis.

Endometriosis is a complex disease of young women in reproductive age. It's responsible for dysmenorrhea, dyspareunia, chronic pelvic pain and infertility. Medical and surgical treatments have different aims. Hormonal suppression tends to stop natural evolution of the disease and surgery enables macroscopic excisions of endometriotic implants. Outcomes depend on the stage and the preoperative symptoms. This article summarizes a review of surgical management of endometriosis describing surgical indications, techniques, and outcomes in terms of pain and fertility.

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio-scapulo-humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and lumbar lordosis; pelvic muscles were mostly spared. An extensive muscle MRI assessment including neck, shoulder, abdominal, pelvic and lower limb muscles documented radiological features typical of DM1 and FSDH. Molecular genetic studies confirmed that the proband carried both a pathologically expanded DMPK allele, inherited from his father, and a de novo shortened D4Z4 repeat fragment at 4q35 locus.

Muscle MRI in female carriers of dystrophinopathy.

BACKGROUND AND PURPOSE: Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for prenatal diagnosis. Muscle biopsy is currently the diagnostic instrument of choice in sporadic patients. We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy. METHODS: Evaluation of pelvic and lower limb MRI scans of 12 dystrophinopathy carriers was performed. RESULTS: We found a frequent involvement of the quadratus femoris, gluteus maximus and medius, biceps femoris long head, adductor magnus, vasti and paraspinal muscles, whilst the popliteus, iliopsoas, recti abdominis, sartorius, and gracilis were relatively spared. Asymmetry was a major feature on MRI; it could be detected significantly more often than with sole clinical examination and even in patients without weakness. CONCLUSIONS: The pattern we describe here is similar to that reported in Duchenne and Becker muscular dystrophy, although asymmetry represents a major distinctive feature. Muscle MRI was more sensitive than clinical examination for detecting single muscle involvement and asymmetry. Further studies are needed to verify the consistency of this pattern in larger cohorts and to assess whether muscle MRI can improve diagnostic accuracy in carriers with normal dystrophin staining on muscle biopsy.