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Background: A worldwide increase in the prevalence of obesity has been observed in the past three decades, particularly in women of reproductive age. Female obesity has been clearly associated with impaired spontaneous fertility, as well as adverse pregnancy outcomes. Increasing evidence in the literature shows that obesity also contributes to adverse clinical outcomes following in vitro fertilization (IVF) procedures. However, the heterogeneity of the available studies in terms of populations, group definition and outcomes prevents drawing firm conclusions. A previous meta-analysis published in 2011 identified a marginal but significant negative effect of increased female body mass index (BMI) on IVF results, but numerous studies have been published since then, including large cohort studies from national registries, highlighting the need for an updated review and meta-analysis., Objective and Rationale: Our systematic review and meta-analysis of the available literature aims to evaluate the association of female obesity with the probability of live birth following IVF. Subgroup analyses according to ovulatory status, oocyte origin, fresh or frozen-embryo transfer and cycle rank were performed., Search Methods: A systematic review was performed using the following key words: ('obesity', 'body mass index', 'live birth', 'IVF', 'ICSI'). Searches were conducted in MEDLINE, EMBASE, Cochrane Library, Eudract and clinicaltrial.gov from 01 January 2007 to 30 November 2017. Study selection was based on title and abstract. Full texts of potentially relevant articles were retrieved and assessed for inclusion by two reviewers. Subsequently, quality was assessed using the Newcastle-Ottawa Quality Assessment Scales for patient selection, comparability and assessment of outcomes. Two independent reviewers carried out study selection and data extraction according to Cochrane methods. Random-effect meta-analysis was performed using Review Manager software on all data (overall analysis), followed by subgroup analyses., Outcomes: A total of 21 studies were included in the meta-analysis. A decreased probability of live birth following IVF was observed in obese (BMI ≥ 30 kg/m2) women when compared with normal weight (BMI 18.5-24.9 kg/m2) women: risk ratio (RR) (95% CI) 0.85 (0.82-0.87). Subgroups analyses demonstrated that prognosis was poorer when obesity was associated with polycystic ovary syndrome, while the oocyte origin (donor or non-donor) did not modify the overall interpretation., Wider Implications: Our meta-analysis clearly demonstrates that female obesity negatively and significantly impacts live birth rates following IVF. Whether weight loss can reverse this deleterious effect through lifestyle modifications or bariatric surgery should be further evaluated., (© The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

The purpose of this article is to review the technique of fetal chest ultrasound screening evaluation, the diagnostic work-up in the presence of fetal mediastinal shift and which ultrasound imaging features to look for. The first step in evaluating the fetal thorax is to confirm situs. Then, a median sagittal line is drawn from a four-chamber view to assist in spatial orientation followed by echotexture analysis of the structures of the thorax in the presence of mediastinal shift. We propose a systematic approach based on the direction of the mediastinal shift and echogenicity of the compressing hemithorax. When the hemithorax contralateral to the mediastinal shift is enlarged, which is the most frequent situation, diaphragmatic hernia and macrocystic congenital cystic adenomatoid malformation are the most likely etiologies when the mass is heterogeneous. Microcystic congenital cystic adenomatoid malformation, sometimes associated with sequestration, is the most frequent etiology when the mass is homogeneous. When the hemithorax ipsilateral to the mediastinal shift is small, which is less frequent, and the contralateral hemithorax is homogeneously isoechoic, then a diagnosis of lung hypoplasia-agenesis-aplasia should be considered., (Copyright © 2011 Elsevier Masson SAS and Éditions françaises de radiologie. All rights reserved.)

Background: It has been described that both the colon and distal ileum present with a physiological hypersignal on T1-weighted sequences during the second and third trimesters of pregnancy because of their protein-rich meconium content, it was unclear whether the normal characteristics that have been described on fetal MRI can be applied to gastrointestinal (GI) obstructions., Objective: To analyse the localisation value of T1 hypersignal within dilated bowel loops in fetuses with gastrointestinal tract obstruction., Materials and Methods: A retrospective 4-year multicentre study analysing cases of fetal GI obstruction in which MRI demonstrated T1 hypersignal content in the dilated loops. Data collected included gestational age (GA) at diagnosis, bowel appearance on US, CFTR gene mutations and amniotic levels of gastrointestinal enzymes. The suggested prenatal diagnosis was eventually compared to postnatal imaging and surgery., Results: Eleven patients were included. The median GA at US diagnosis was 23 weeks (range 13-32). In eight cases there was a single dilated loop, while several segments were affected in three. The median GA at MRI was 29 weeks (range 23-35). One case presented with cystic fibrosis mutations. Final prenatally suspected diagnoses were distal ileal atresia or colon in nine cases and proximal atresia in two. Postnatal findings were proximal jejunal atresia in nine cases and meconium ileus in two. In five cases the surgical findings demonstrated short bowel syndrome., Conclusion: In cases of fetal occlusion, T1 hypersignal should not be considered as a sign of distal ileal or colonic occlusion. The obstruction may be proximal, implying a risk of small bowel syndrome, which requires adequate parental counselling.

We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non-specific and electromyography revealed intense generalized myotonia. The myotonic episodes improved after introducing oral mexiletine and maintaining room temperature at 28 degrees C. The patient died at 20 months of age following a bronchopulmonary infection. A previously undescribed de novo heterozygous c.3891C > A change, which predicts p.N1297K in the SCN4A gene. Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. The cold-sensitive episodes of stiffness followed by weakness suggested the diagnosis of channelopathy in our patient. However, her neonatal onset, the triggering of severe episodes by exposure to modest decreases in temperature, involvement of respiratory muscles with prolonged apnea, early-onset muscle hypertrophy, psychomotor retardation, and fatal outcome are evocative of a distinct clinical subtype. Our observation expands the phenotypic spectrum of sodium channelopathies.

Background: We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester., Methods and Results: Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs, hypoplasia of the preaxial elements in all four limbs with accompanying accessory ossification centres in the feet, and severe calvarial underossification. A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. The degree of undermodelling and campomelia was reminiscent of another group of conditions that include atelosteogenesis types 1 and 3, caused by mutations in FLNB. Sequencing analysis did not reveal any pathogenic mutation in the three paralogous filamin genes: FLNA, FLNB and FLNC., Conclusion: Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies., (2006 John Wiley & Sons, Ltd.)

We report a new case of megalencephaly and polymicrogyria with post-axial polydactyly and hydrocephalus (MPPH syndrome) in an 18-month-old girl. She was the first child of healthy non-consanguineous parents and measurements at birth were +3 standard deviations (S.D.) for weight, +2 S.D. for length and +4 S.D. for OFC. Ultrasound scan at 24 weeks of gestation (WG) showed mild ventriculomagaly with unique umbilical artery and dacryocystocele. Clinical examination at birth revealed macrosomia with macrocephaly, facial dysmorphism, post-axial polydactyly at the right hand and both feet, and axial hypotonia with hypertonic arms and legs. At 18 months of age, weight was +2 S.D., length was +2 S.D. and OFC was +4 S.D. She remained hypertonic, could not sit and had no hand use. Cerebral magnetic resonance imaging showed stable ventriculomegaly and polymicrogyria located on the frontal and perisylvian region with white matter hypersignal on T2-weighted images. There was no associated visceral malformation. Standard and high-resolution cytogenetic examination, telomeric FISH and array-CGH studies were normal. This case represents the sixth observation of MPPH syndrome as described by Mirzaa et al. in 2004. We provide further neurological follow-up since three out of five index patients were aged 6 months or less. We postulate that macrosomia at birth might be a major feature (five/six cases), with advanced bone age in the two/two investigated cases. White matter abnormalities might be an occasional feature of this syndrome (three/six cases), as well as dacryocystocele, if not coincidental (one/six case). The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful.

Uncertainty is a parameter associated with the result of a measurement; this parameter characterizes the dispersion of the values that could reasonably be attributed to the sample. Data processing methods do not take into account the influence of the imprecision and deviation of the experimental points of the calibration system and their impact on the final result of a sample analysis. The aim of this work is: (a) to propose, for each run, a simple method to calculate the uncertainty due to the calibration system (Uc); and (b) to present a method to determine the "intra-assay total uncertainty" (Ut) and evaluate its impact on the final result for an analyte. Ten replicates of standards, controls, and two serum-male and female samples were measured in the same run with a manual kit for determination of testosterone. To calculate Ut, random duplicate responses were selected. For controls and samples, Ut was affected by Uc (2.91% to 6.59%) and by the uncertainty of the measurement of the sample (Us) (1.01 to 8.73%); this allowed us to determine that Ut had values from 3.73% to 9.87%. While Us affects the result of a given sample, Uc affects the result of all the samples with a similar response (cpm). In the method proposed, Ut involves Us and Uc, both factors that introduce variations into the result of a sample by random causes. Intraassay total uncertainty includes the most probable result for the analytical methodology selected.

Different molecular forms of circulating prolactin (PRL) are known to occur in several species. As no such information was available in dogs, we assessed the molecular profile of circulating PRL in bitches. Pooled sera from covertly (CTRL) and overtly pseudopregnant (PSPT) diestrous bitches with high or low (> 10 or < 10 ng x mL(-1), respectively) serum PRL (measured by ELISA) were analyzed by Sephadex G-100 and Concanavalin A-Sepharose column chromatography. Four serum PRL fractions were identified and termed big-big, big (> 67 kDa), native (23 kDa) and fragmented (< 20) kDa) PRL. The percentages of these fractions were roughly similar in CTRL and PSPT animals, irrespective of their serum PRL levels (higher in PSPT than in CTRL bitches). A large proportion of glycosylated PRL (between 69 and 100%) was also detected in these sera. We conclude that in dogs, circulating PRL occurs in multiple molecular forms, whose relative abundance is comparable in covertly and overtly pseudopregnant bitches.

In a previous study, we demonstrated that oligoasthenozoospermic (OAZ) patients had two types of testosterone response to human chorionic gonadotrophin (HCG) administration: group 1 (OAZ-1) had an altered, monophasic (no first peak) response, and group 2 (OAZ-2) had a normal biphasic response. The objective of the present work was to study the luteinizing hormone (LH) pulsatility in OAZ-1 compared with both OAZ-2 and men of proven fertility (PF), in order partly to determine the possible aetiology of the blunted acute testosterone response to HCG in these patients. LH pulsatility was measured in 10 PF, 10 OAZ-1 and 10 OAZ-2 patients, in blood samples taken every 5 min for 6 h in PF, and for 4 h in OAZ patients. LH values were determined by a time-resolved immunofluorometric assay. Frequency and amplitude of the LH pulses were determined by a computer program. LH pulse frequency, expressed as pulses/4 h, was significantly lower in OAZ-1 (1.5+/-0.97) than in PF (2.4+/-0.63) and OAZ-2 (2.4+/-0.84) patients. In six OAZ-1 and two OAZ-2 patients, LH pulsatility was diminished, as they showed less than two pulses/4 h. No statistically significant differences in LH pulse amplitude were found. These results, together with a higher number of OAZ-1 cases found with decreased LH pulsatility, suggest that, at least in a subset of these men, quantitative and/or qualitative alterations of LH secretion might have occurred.

Secondary mixed lymphocyte reaction (MLR-II) was studied in A.TH anti A.TL and A.TL anti-A.TH combinations in which stimulation was mainly due to H-21-region differences. In both cases of MLR-II was specifically inhibited by the responder anti-stimulator Ia serum. The level of inhibition was dependent on the ratio of the amount of immune serum to the number of stimulating cells. The inhibitory activity and Ia antibodies were specifically absorbed and eluted together. The results confirm that the lymphocyte-activating determinants of the MLR-II (1) are carried by the Ia molecules and (2) are identical to the serologically defined Ia determinants. - Anti-Ia sera directed against private and public specificities of the stimulating cell induced a higher level of inhibition than anti-Ia sera directed only against public specificities, indicating that both private and public Ia specificities are involved in re-stimulation during MLR-II. - These results, in connection with others, suggest that the receptor of the proliferating T cell recognizes the same Ia determinant as the combining site of the Ia-recognizing antibody.

Serum radioimmunoassayable testosterone (T), cortisol and luteinizing hormone (LH) were determined before and after dexamethasone (DXM) administration in 35 patients with idiopathic hirsutism (IH). Blood samples were taken at 15-min intervals during 1 hour in both basal and post-DXM conditions. Testosterone values obtained in 5 normal women in the same conditions during the early follicular phase were (mean +/- SD): baseline, 2.26 +/- 0.49 nmol/l; post-DXM, 0.80 +/- 0.35 nmol/l. Serum T levels in the whole group of patients with IH were significantly higher than those in the control group (mean +/- SD): baseline, 3.30 +/- 1.80nmol/l; post-DXM, 1.67 +/- 1.49nmol/l. Patients with IH were divided into 4 groups according to T results in the DXM test (mean +/- SD in both basal and post-DXM conditions, respectively): group 1 (n = 13) 1.67 +/- 0.66 and 0.62 +/- 0.35nmol/l; group 2 (n = 11) 3.89 +/- 1.63 and 3.09 +/- 1.49nmol/l; group 3 (n = 6) 3.96 +/- 1.46 and 0.87 +/- 0.73nmol/l; and group 4 (n = 5) 5.45 +/- 1.25 and 2.05 +/- 0.38nmol/l. In all cases, maximal adrenal inhibition, as judged by serum cortisol, was obtained. No LH modifications after DXM were obtained in any of the cases. Our results demonstrate that there is no common androgenic abnormality in IH. It is possible to obtain normal or high circulating T levels. The findings of this study also suggest that the adrenals, to ovary or both may be the sources of high T levels.

A B10.S(7R) anti-B10.S(9R) serum (anti-IJEkCd) contained, as expected, antibodies specific for the I-E-subregion-encoded determinant Ia.7. However, tests on recombinant haplotypes demonstrated a series of unexpected weak extrareactions which could be interpreted to be directed against antigenic determinants encoded in the I-A subregion of the H-2 complex. The same type of extrareaction was observed in eluates from I-As, I-Ek cells coated with A.TH anti-A.TL (I-As, I-Ek anti-I-Ak, I-Ek) serum. This reactivity in serum and eluates could be interpreted as cross-reactivity between products of the I-E and I-A subregions.