Reference charts for fetal cerebellar vermis height: A prospective cross-sectional study of 10605 fetuses

A prospective cross-sectional study between September 2009 and December 2014 was carried out at ALTAMEDICA Fetal–Maternal Medical Centre, Rome, Italy. Of 25203 fetal biometric measurements, 12167 (48%) measurements of the cerebellar vermis were available. After excluding 1562 (12.8%) measurements, a total of 10605 (87.2%) fetuses were considered and analyzed once only. Parametric and nonparametric quantile regression models were used for the statistical analysis. In order to evaluate the robustness of the proposed reference charts regarding various distributional assumptions on the ultrasound measurements at hand, we compared the gestational age-specific reference curves we produced through the statistical methods used. Normal mean height based on parametric and nonparametric methods were defined for each week of gestation and the regression equation expressing the height of the cerebellar vermis as a function of gestational age was calculated. Finally the correlation between dimension/gestation was measured

The origin, development, and decline of Boston's adult entertainment district : the Combat Zone

Thesis (M.C.P.)--Massachusetts Institute of Technology, Dept. of Urban Studies and Planning, 1986.MICROFICHE COPY AVAILABLE IN ARCHIVES AND ROTCHBibliography: leaves 85-89.by Salvatore M. Giorlandino.M.C.P

Antenatal automatic diagnosis of cleft lip via unsupervised clustering method relying on 3D facial soft tissue landmarks

Objectives Ultrasound (US) is the first-choice device to detect different types of facial dysmorphisms. Anyway, at present no standard protocol has been defined for automatic nor semi-automatic diagnosis. Even though the practitioner's contribution is core, steps towards automatism are to be undertaken. We propose a methodology for diagnosing cleft lip on 3D US scans. Methods A bounded Depth Minimum Steiner Trees (D-MST) clustering algorithm is proposed for discriminating groups of 3D US faces relying on the presence/absence of a cleft lip. The analysis of 3D facial surfaces via Differential Geometry is adopted to extract landmarks. Thus, the extracted geometrical information is elaborated to feed the unsupervised clustering algorithm and produce the classification. The clustering returns the probability of being affected by the pathology, allowing physicians to focus their attention on risky individuals for further analysis. Results The feasibility is tested upon the available 3D US scans data and then deeply investigated for a large dataset of adult individuals. 3D facial Bosphorus database is chosen for the testing, which seven cleft lip-affected individuals are added to, by artificially creating the defect. The algorithm correctly separates left and right-sided cleft lips, while healthy individuals create a unique cluster; thus, the method shows accurate diagnosis results. Conclusions Even if further testing is to be performed on tailored datasets made exclusively of fetal images, this techniques gives hefty hints for a future tailored algorithm. This method also fosters the investigation of the scientific formalisation of the "normotype", which is the representative face of a class of individuals, collecting all the principal anthropometric facial measurements, in order to recognise a normal or syndromic fetus

Digenic origin of difference of sex development in a patient ahrbouring DHX37 and MAMLD1 variants

Background: The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed to genetic causes. Case Presentation. The present study investigated genetic causes implicated in a case of a 15-year-old 46, XY patient, raised as a girl. Genetic analysis by clinical exome sequencing (CES) showed a digenic inheritance due to two known pathogenic mutations in the DHX37 gene and the MAMLD1 gene, while we excluded variants with pathogenic significance in 209 DSD-related genes. Conclusions: Based on our literature review, this is the first case with the combined presence of pathogenic mutations in the MAMLD1 gene and DHX37 gene in a patient with gonadal dysgenesis

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Abstract Objective Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. Case Report We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13 th weeks of gestation after 1 st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17 th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. Conclusion New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p)

Clinical Experiences of Fetal Ovarian Cyst: Diagnosis and Consequence

Ovarian cysts are the most frequent, prenatally diagnosed intra-abdominal cysts. Fetal ovarian cyst often presents complication such as torsion and seems to be an indication for surgical intervention. In this study, we reviewed pre- and post-natal medical records and ultrasonography of 17 fetuses that were diagnosed with ovarian cysts. In a total of 17 cases, postnatal surgery was performed in 7 infants. Of these cases, four cases of ovarian cyst torsion were confirmed. In the remaining 10 fetuses, one case regressed completely during pregnancy, and the other nine cases including two complex cysts resolve spontaneously after birth. Postnatal symptomatic cysts or cysts with a diameter greater than 5 cm that do not regress or enlarge should be treated, but uncomplicated asymptomatic cysts less than 5 cm in diameter should only be observed and reassessed by serial ultrasonography. If they regress spontaneously, no surgical intervention is necessary independent of their sonographic findings

Discordance of Biomarker Expression Profile between Primary Breast Cancer and Synchronous Axillary Lymph Node Metastasis in Preoperative Core Needle Biopsy

Background: Breast cancer (BC) is a heterogeneous disease made up of clones with different metastatic potential. Intratumoral heterogeneity may cause metastases to show divergent biomarker expression, potentially affecting chemotherapy response. Methods: We investigated the immunohistochemical (IHC) and FISH profile of estrogen receptors (ER), progesterone (PR) receptors, Ki67, and HER2 in a series of BC-matched primary tumors (PTs) and axillary lymph node (ALN) metastases in pre-operative core needle biopsies (CNBs). Phenotypical findings were correlated to morphological features and their clinical implications. Results: Divergent expression between PTs and ALNs was found in 10% of the tumors, often involving multiple biomarkers (12/31, 39%). Most (52%) displayed significant differences in ER and PR staining. HER2 divergences were observed in almost three-quarters of the cases (23/31, 74%), with five (16%) switching from negativity to overexpression/amplification in ALNs. Roughly 90% of disparities reflected significant morphological differences between PTs and ALN metastases. Less than half of the discrepancies (12/31, 39%) modified pre/post-operative treatment options. Conclusions: We observed relevant discrepancies in biomarker expression between PTs and metastatic ALNs in a noteworthy proportion (10%) of preoperative BC CNBs, which were often able to influence therapies. Hence, our data suggest routine preoperative assessment of biomarkers in both PTs and ALNs in cases showing significant morphological differences

Management of prenatal ovarian cysts

Objectives: The aim of the present study was to analyze the antenatal and postnatal outcome of fetal ovarian cysts in relation to their ultrasonographic pattern and size. Methods: Sixteen fetal ovarian cysts were diagnosed in 16 fetuses and followed with serial ultrasonograms in utero and after birth until spontaneous or surgical resolution. Results: Eleven fetal ovarian cysts were simple cysts at first prenatal scan but 3 of the 11 became complex cysts at last prenatal scan and required postnatal laparoscopic surgery. Seven of the 11 simple cysts (63%) disappeared on follow up imaging by ultrasonograms or MRI during pregnancy or within 2 months after birth. The rate of spontaneous resolution of simple cysts was higher than that of complex cysts (40.0%). The mean maximum diameter of the ovarian cysts before delivery that were subsequently excised surgically at postnatal period (50±13.4 mm) was not different from that of ovarian cysts that resolved spontaneously (42.8±12.8 mm, P= 0.2918).Conclusion: In our study, cyst size did not predict the risk of ovarian loss. The opportunity of laparoscopic exploration versus conservative management needs to be investigated because some complex cysts resolved spontaneously in the postnatal period