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We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.

Examining specific patterns of major cranio-facial alterations through cephalometric measurements in order to improve the Prader–Willi (PWS) syndrome diagnostic poses a major challenge of identifying interlinkages between numerous credentials. These interactions can be captured through probabilistic models of conditional independence between heterogeneous variables. Our research included 18 subjects (aged 4 to 28 years) genetically diagnosed with Prader–Willi syndrome and a healthy control group (matched age and sex). A morphometric and cephalometric analysis was performed upon all the subjects in order to obtain the needed specific data. We have, therefore, firstly deployed several integrated Gaussian graphical models (GGMs) to capture the positive and negative partial correlations and the intensity of the connections between numerous credentials configured to determine specific cranio-facial characteristics of patients with PWS compared to others without this genetic disorder (case-control analysis). Afterwards, we applied structural equation modelling (SEM) with latent class analysis to assess the impact of these coordinates on the prevalence of the Prader–Willi diagnostic. We found that there are latent interactions of features affected by external variables, and the interlinkages are strapping particularly between cranial base (with an important role in craniofacial disharmonies) and facial heights, as important characteristic patterns in determining the Prader–Willi diagnostic, while the overall patterns are significantly different in PWS and the control group. These results impact the field by providing an enhanced comprehensive perspective on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome that can be used as benchmarks in determining the diagnostic of this rare genetic disorder. Furthermore, the two innovative exploratory research tools applied in this paper are very useful to the craniofacial field to infer the connections/dependencies between variables (particularly biological variables and genes) on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome.

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Fetal aneuploidies screening was based for a long time on ultrasonographic and biochemical markers measurement. The risk calculated in accordance with second trimester biochemical markers (STBM) values relies on calculation of corrected MoM values. MoM (multiple of Medians) signify the deviation of a measured value from the expected value (Median). The Median is measured at the same gestational age in pregnancies which involve healthy fetuses. The correction of MoM includes an adjustment for certain parameters that influence the STBM value: demographical (ethnicity), behavioral (smoking status, weight), and others (mode of conceiving, etc.). In our article we aim to analyze: (1) the accuracy of software to calculate STBM corrected MoM values, (2) the effect of weight of pregnant women on STBM and (3) the capability of software to counterbalance this influence. Pregnant women (n=1242) were screened for aneuploidies based on an integrated test: first trimester ultrasound and STBM (AFP, hCG and uE3). The absolute value, multiple of median (MoM) and corrected multiple of median (MoMc) values were 33.94�0.45, 1.04�0.12 and 0.98�0.01 for AFP, 22530�477, 0.87�0.01 and 0.85�0.01 for hCG, respectively 0.97�0.03, 0.99�0.01 and 0.98�0.01 for uE3. The weight of pregnant women inversely correlates with absolute and MoM AFP, hCG and uE3 values. No correlation was found with AFP and hCG MoMc values. A very weak inverse correlation was found between weight and uE3 corrected MoM values. Our study confirms that there is a difference between provider and own calculated hCG MoMc values. The weight of pregnant women inversely correlates with STBM values. The software used for aneuploidies risk evaluation corrects the influence of weight of pregnant women, but a minimal influence on uE3 corrected MoM values is still present.

Spontaneous miscarriage is reported in approximately 15% of the clinically recognized pregnancies. Several reports have showed an increased risk of miscarriage in patients with thrombophilia, but due to the heterogeneity of study design the role thrombophilic factors and the use of anticoagulant therapy in prevention of pregnancy loss is still unclear. The current study includes 55 patients for which we ran a screening of the most commonly inherited thrombophilia mutations (FVL, FII, MTHFR C677T/A1298, PAI 4G/5G mutations). We found that most of the patients (92.72%) associated mutation in at least 2 of the genes evaluated. Only a small number of patients (7.27%) had a single variant identified. We have found high prevalence of the studied variants in the pregnant patients that experience pregnancy loss, with risk allele frequencies increased from 2 to 11 times as compared to the general population. We consider that evaluation of the trombophilic variants should be indicated for patients with pregnancy loss in order to establish a possible cause for the miscarriage.

Arterial stiffness is classified as a useful marker of early vascular damaging and a predictor of cardiovascular events in young people. We aimed to present the efficacy of a non invasive device in cardiovascular diseases prevention. Using the Arteriograph device, it was performed a cross sectional, non-invasive study in 313 healthy students. Non-invasive screening of apparently healthy young subjects with high WTH ratio values may be beneficial for detecting early, asymptomatic arterial atherosclerosis.

Values of first trimester biochemical markers (PAPP-A and free b-hCG) concentration are included in aneuploidies risk evaluation algorithm. Since both markers are produced by the fetus and placenta their concentration depends on the volume in which they are dissolved, respectively the weight of the pregnant women. Our study aimed to analyze the influence of maternal weight on first trimester biochemical markers concentration and the ability of the risk calculation software to correct this influence. Pregnancy-associated protein A (PAPP-A) and free � chorionic gonadotropin hormone (free � hCG) first trimester sera concentration respectively weight were measured in 1629 pregnant women. First trimester PAPP-A and free beta hCG concentrations inverse correlate with weight of pregnant women rho=-0.33, p[0.0001, respectively rho=-0.18, p[0.0001. Weight of pregnant women inversely correlates with multiple of median (MoM) values of first trimester markers too: rho=-0.38, p[0.0001 (PAPP-A), respectively rho=-0.17, p[0.0001 (free-b-hCG). The software counterbalances the influence of weight on biochemical markers values. PAPP-A corrected MoM (MoMc) values don�t inversely correlate with the weight (rho=-0.03, p=0.12), whereas free � hCG MoMc values showed an extremely weak inverse correlation (rho=-0.08, p=0.0008). The software counterbalances the influence of weight on PAPP-A values, whereas an extremely weak but insignificant inverse correlation between weight and free-beta hCG values persists after correction.