Congenital abnormalities

A linear-shaped or "lying-down" adrenal gland is a sign often seen with the absence of the kidney in the renal fossa due to renal agenesis, renal ectopia, or horseshoe kidney. It is theorized that the presence of the kidney in the normal location within the renal fossa is important for the formation of the normal triangular inverted V or Y adrenal shape. There are exceptions to this rule whereby a kidney is missing from the renal fossa, yet a normal adrenal shape is present. This series looked at 18 cases of an empty renal fossa in fetal, neonatal, and pediatric patients and recorded the shape of the adrenal gland. Nine cases (50%) appropriately showed the linear or lying-down adrenal gland; 6 (33%) showed an exception to the rule, with a normally shaped adrenal gland; and 3 (17%) showed a pseudo exception in which the adrenal gland was linear but blended with the diaphragmatic crus to simulate a triangular adrenal gland. The sonographic characteristics of the crus are dif...

Assume a uniform, multidimensional grid of bivariate data, where each cell of the grid has a count ci and a baseline bi. Our goal is to find spatial regions (d-dimensional rectangles) where the ci are significantly higher than expected given bi. We focus on two ...

Background An estimated >2 million babies stillborn around the world each year lack visibility. Low- and middle-income countries carry 84% of the burden yet have the least data. Most births are now in facilities, hence routine register-recording presents an opportunity to improve counting of stillbirths, but research is limited, particularly regarding accuracy. This paper evaluates register-recorded measurement of hospital stillbirths, classification accuracy, and barriers and enablers to routine recording. Methods The EN-BIRTH mixed-methods, observational study took place in five hospitals in Bangladesh, Nepal and Tanzania (2017–2018). Clinical observers collected time-stamped data on perinatal care and birth outcomes as gold standard. To assess accuracy of routine register-recorded stillbirth rates, we compared birth outcomes recorded in labour ward registers to observation data. We calculated absolute rate differences and individual-level validation metrics (sensitivity, speci...

We have chosen a vertebrate model accessible during neurulation, the chick, for analysis of endogenous insulin signaling and its contribution to early embryonic cell survival. Unlike rodents, humans and chickens have a single preproinsulin gene, facilitating its prepancreatic expression characterization. We show that in vivo interference with embryonic insulin signaling using antisense oligonucleotides against the insulin receptor increases apoptosis during neurulation. In contrast, high glucose administration does not increase the level of apoptosis in culture or in vivo. Exogenous insulin and, remarkably, proinsulin achieve similar survival protective effects at 10−8 mol/l. The low abundant preproinsulin mRNA from the prepancreatic embryo is translated to a protein that remains as unprocessed proinsulin. This concurs with the absence of prohormone convertase 2 (PC2) in the embryo, whereas PC2 is present later in embryonic pancreas. A C-peptide–specific antibody stains proinsulin-c...

Palabras clave: Taussig-Bing, Damus-Kaye-Stansel, Rastelli. ABSTRACT Introduction: The double outlet right ventricle (DORV) is a rare malformation that represents 1-5% of all con- genital heart diseases. The Taussig-Bing syndrome is the second most fr

Objectives: We aimed to find answers to the following questions: What are the technical and biological prerequisites for easily obtainable three-dimensional (3D) images? What are the visualization rates for various fetal organ systems? What is the potential for assessing fetal malformations? What are the psychological effects of 3D imaging on the expectant mothers? Methods: Between January and June 1998, 433 pregnant women were prospectively examined with two-dimensional (2D) and 3D sonography. Results: 3D visualization in healthy fetuses was inferior in quality to 2D visualization, which also accounted for the comparison of 3D imaging versus 2 D imaging among fetuses affected with malformations. In only 1 case did 3D imaging yield a slightly better description of the given malformation. This did not result in a different therapeutical approach. Concerning the psychological effect of 3D imaging, a marked approval of the 3D method was recorded. Conclusions: These results show that th...

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Dogumsal gastro enterik kistler oldukca nadir gorulen konjenital mediastinal lezyonlardir. Enterik kistler cogunlukla erkeklerde ve erken cocukluk yaslarinda ozellikle de yenidogan doneminde daha sik gorulur. Posterior mediastende daha sik yerlesir. Bu makalede iki aydir solukluk, halsizlik, oksuruk, istahsizlik ve kilo kaybi ile basvuran, oniki yasinda bir erkek cocukta lenfomayi taklit eden mediastinal enterik kist olgusunu sunduk. Torasik enterik kistlerin cogu sag gorulmesine ragmen bizim olgumuzda daha cok sol tarafta yerlesiyor ve saga uzaniyordu. Gastro enterik kistler siklikla spinal kanalla yakin komsuluk icindedir ve onemli bir kisminda vertebral anomaliler eslik eder. Tani aninda yakinmasiz olsa bile histopatolojik inceleme icin gereken tanimlayici cerrahi ve total eksizyon her zaman zorunludur. A case of mediastinal enteric cyst mimicking lymphoma Congenital foregut cysts of the mediastinum are extremely rare lesions. They are more frequent in males and in infants. They ...

Background: To study association between consanguinity and neonatal congenital birth defects. Methods: In this case-control study 176 pregnant women of gestational ages above 18 weeks or women at time of delivery, were enrolled. 78 cases were women with neonates/fetuses having congenital birth defects compared with 78 matched controls; women with healthy neonates/fetuses. Odds ratios and adjusted odds ratios were calculated along with 95% confidence intervals. Results: Amongst 76 cases, Anencephaly (30.76%), Congenital Heart Disease (21.79%) and Hydrocephaly (17.90%) were leading congenital disorders observed in neonates/fetuses of study participants. When consanguinity in cases and controls was compared, it was found that consanguinity increased the risk of congenital defects by two-fold (Odds Ratio 2.23, 95% confidence interval 1.164.27 and p-value 0.01). Conclusions: Strong association exists between consanguinity and congenital malformations in our population.

to conduct an epidemiological descriptive study on malformed newborns residing in the Municipality of Gela during 1991-2002 to compare theprevalences observed with those reported by the registries operating in Sicily, in Italy and in the scientific literature. epidemiological descriptive study in the area of the Municipality of Gela, (Sicily, Italy). information on congenital anomalies occurred in livebirths and stillbirths residing in the Municipality of Gela were obtained from different sources: local hospital statistics, general paediatricians list of patients, the Sicilian Registry of Congenital Malformations (ISMAC), hospital discharge records of Catania University Hospital, previous investigation data, the Gela Hospital Obstetrics Department archive. 520 malformed cases out of 13060 newborns were ascertained, accounting for a prevalence rate of 398/10000 total births, approximately 2 times significantly higher than those reported by the Sicilian Registry ISMAC (182/10000) and ...

Background Paternal occupational exposures to potential health hazards are likely to affect congenital malformations through the spermatogenesis cycle. Purpose The aim of this case–control study was to assess the relationship between the risk of musculoskeletal con-genital malformations in offspring and paternal workplace exposure to potential health hazards during the precon-ception period. Method The study comprised 105 patients (cases) with a musculoskeletal congenital malformation(s) and 135 con-trols matched for age and demographic characteristics. Both parents of each case and control were interviewed in the hospital by a trained physician. They also completed a questionnaire focusing on the preconception period and on the 3-month period immediately before and after the pregnancy conception date, respectively, of the child under study. Results The odds of having a child with a congenital malformation was higher (P \ 0.05) if the father was occupationally exposed to pesticides,...