Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births.

The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.     

Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births.

The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non consanguineous marriages. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies we tried to answer to this question. In the population studied in North-Eastern France a consanguineous mating was known in 1.21% of the cases with congenital anomalies, vs. 0.27% in controls, (p < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 89 malformed children, 51 were seen in first-cousins mating (10.3 times more frequent than in offspring of non consanguineous couples), 17 in second-cousins marriages and 18 in more distant relatives mating. Three were uncle-niece marriage. Excluding known mendelian conditions these numbers were 73, 36, 17 and 17 respectively and the corresponding relative risk were 3.68, 3.01, 3.41 and 4.89 respectively. Therefore there is a negative dose-response effect between level of inbreeding and risk of congenital malformations. Consanguineous mothers were more often pregnant than non consanguineous mothers (p < 0.01) and they had more stillbirths than non consanguineous mothers. These results show that consanguinity is still a factor of birth defects and they must be taken into account for genetic counseling of inbred marriages, in developed countries.     

Periodicity and time trends in the prevalence of total births and conceptions with congenital malformations among Jews and Muslims in Israel, 1999-2006: a time series study of 823,966 births

BACKGROUND Congenital malformations (CMs) are a leading cause of infant disability. Geophysical patterns such as 2-year, yearly, half-year, 3-month, and lunar cycles regulate much of the temporal biology of all life on Earth and may affect birth and birth outcomes in humans. Therefore, the aim of this study was to evaluate and compare trends and periodicity in total births and CM conceptions in two Israeli populations. METHODS Poisson nonlinear models (polynomial) were applied to study and compare trends and geophysical periodicity cycles of weekly births and weekly prevalence rate of CM (CMPR), in a time-series design of conception date within and between Jews and Muslims. The population included all live births and stillbirths (n = 823,966) and CM (three anatomic systems, eight CM groups [n = 2193]) in Israel during 2000 to 2006. Data were obtained from the Ministry of Health. RESULTS We describe the trend and periodicity cycles for total birth conceptions. Of eight groups of CM, periodicity cycles were statistically significant in four CM groups for either Jews or Muslims. Lunar month and biennial periodicity cycles not previously investigated in the literature were found to be statistically significant. Biennial cycle was significant in total births (Jews and Muslims) and syndactyly (Muslims), whereas lunar month cycle was significant in total births (Muslims) and atresia of small intestine (Jews). CONCLUSION We encourage others to use the method we describe as an important tool to investigate the effects of different geophysical cycles on human health and pregnancy outcomes, especially CM, and to compare between populations.     

Predictive values for different cancers and inflammatory bowel disease of 6 common abdominal symptoms among more than 1.9 million primary care patients in the UK: A cohort study

BackgroundThe diagnostic assessment of abdominal symptoms in primary care presents a challenge. Evidence is needed about the positive predictive values (PPVs) of abdominal symptoms for different cancers and inflammatory bowel disease (IBD).Methods and findingsUsing data from The Health Improvement Network (THIN) in the United Kingdom (2000–2017), we estimated the PPVs for diagnosis of (i) cancer (overall and for different cancer sites); (ii) IBD; and (iii) either cancer or IBD in the year post-consultation with each of 6 abdominal symptoms: dysphagia (n = 86,193 patients), abdominal bloating/distension (n = 100,856), change in bowel habit (n = 106,715), rectal bleeding (n = 235,094), dyspepsia (n = 517,326), and abdominal pain (n = 890,490). The median age ranged from 54 (abdominal pain) to 63 years (dysphagia and change in bowel habit); the ratio of women/men ranged from 50%:50% (rectal bleeding) to 73%:27% (abdominal bloating/distension). Across all studied symptoms, the risk of diagnosis of cancer and the risk of diagnosis of IBD were of similar magnitude, particularly in women, and younger men. Estimated PPVs were greatest for change in bowel habit in men (4.64% cancer and 2.82% IBD) and for rectal bleeding in women (2.39% cancer and 2.57% IBD) and lowest for dyspepsia (for cancer: 1.41% men and 1.03% women; for IBD: 0.89% men and 1.00% women). Considering PPVs for specific cancers, change in bowel habit and rectal bleeding had the highest PPVs for colon and rectal cancer; dysphagia for esophageal cancer; and abdominal bloating/distension (in women) for ovarian cancer. The highest PPVs of abdominal pain (either sex) and abdominal bloating/distension (men only) were for non-abdominal cancer sites. For the composite outcome of diagnosis of either cancer or IBD, PPVs of rectal bleeding exceeded the National Institute of Health and Care Excellence (NICE)-recommended specialist referral threshold of 3% in all age–sex strata, as did PPVs of abdominal pain, change in bowel habit, and dyspepsia, in those aged 60 years and over. Study limitations include reliance on accuracy and completeness of coding of symptoms and disease outcomes.ConclusionsBased on evidence from more than 1.9 million patients presenting in primary care, the findings provide estimated PPVs that could be used to guide specialist referral decisions, considering the PPVs of common abdominal symptoms for cancer alongside that for IBD and their composite outcome (cancer or IBD), taking into account the variable PPVs of different abdominal symptoms for different cancers sites. Jointly assessing the risk of cancer or IBD can better support decision-making and prompt diagnosis of both conditions, optimising specialist referrals or investigations, particularly in women.

Annie Herbert and co-workers study possible relevance of common abdominal symptoms for specialist referral in UK primary care.     

Possibilities of using ultrasonography for intravital study of topographic anatomy of the anterior abdominal wall in humans

The ultrasound investigation has been performed by means of the echodevices "Aloka-280" and "Aloka-650" (Japan), transducers of 3.5 and 5 MHz. Eighty-two persons of both sex at the age 16-72 years have been examined. The white line, m. rectus abdominis and m. vastus abdominis have been measured at three levels, as well as lateral amuscular spaces. The width of the abdominal white line is individually very variable; the area of the lateral amuscular spaces is greater to the right than to the left. In 20 persons examined they are absent. The thickness of the m. m. rectus abdominis increases from their superior parts to the inferior ones, and their width just the reverse, decreases in this direction. The state of the anterior abdominal wall muscles has been studied both at rest and under functional load. When the prelum abdominale is at the state of exertion, the muscles react differently: dimensions of the m. m. rectus abdominis at rest and under exertion significantly differ at all levels investigated; the m. m. vastus abdominis become thicker to a less degree. When the prelum abdominale is at the state of exertion, no correlation has been revealed between thickness of the m. m. rectus abdominis and degree of their thickening, as well as between width and manifestation of narrowing. A conclusion is made that the ultrasound method opens great possibilities for vital investigation of the anterior abdominal wall topography.     

Seasonal distribution of live births in a rural community in the southern United States

Births in Greene County, Alabama for the years 1980–1984 were examined and an overall seasonal trend was found with a peak from August through November. This trend was found to be most pronounced among women greater than 24 yeas old, and among multiparous women, and to be negatively correlated with seasonal variations in temperature and daylight. The phenomenon is likely multifactorial in origin, with sociocultural factors playing a considerable role. The influence of increasing maternal age and parity in the expression of the seasonal trend may be a function of age-related changes in families, with nuclear families acting as the most powerful potentiators of seasonality.     

Annotation of the M. tuberculosis hypothetical orfeome: adding functional information to more than half of the uncharacterized proteins

The genome of Mycobacterium tuberculosis (H37Rv) contains 4,019 protein coding genes, of which more than thousand have been categorized as 'hypothetical' implying that for these not even weak functional associations could be identified so far. We here predict reliable functional indications for half of this large hypothetical orfeome: 497 genes can be annotated based on orthology, and another 125 can be linked to interacting proteins via integrated genomic context analysis and literature mining. The assignments include newly identified clusters of interacting proteins, hypothetical genes that are associated to well known pathways and putative disease-relevant targets. All together, we have raised the fraction of the proteome with at least some functional annotation to 88% which should considerably enhance the interpretation of large-scale experiments targeting this medically important organism.     

CO2 fertilization contributed more than half of the observed forest biomass increase in northern extra-tropical land

The existence of a large-biomass carbon (C) sink in Northern Hemisphere extra-tropical ecosystems (NHee) is well-established, but the relative contribution of different potential drivers remains highly uncertain. Here we isolated the historical role of carbon dioxide (CO₂) fertilization by integrating estimates from 24 CO₂-enrichment experiments, an ensemble of 10 dynamic global vegetation models (DGVMs) and two observation-based biomass datasets. Application of the emergent constraint technique revealed that DGVMs underestimated the historical response of plant biomass to increasing [CO₂] in forests (${\beta }_{\text{Forest}}^{\mathrm{Mod}}$) but overestimated the response in grasslands (${\beta }_{\text{Grass}}^{\mathrm{Mod}}$) since the 1850s. Combining the constrained ${\beta }_{\text{Forest}}^{\mathrm{Mod}}$ (0.86 ± 0.28 kg C m⁻² [100 ppm]⁻¹) with observed forest biomass changes derived from inventories and satellites, we identified that CO₂ fertilization alone accounted for more than half (54 ± 18% and 64 ± 21%, respectively) of the increase in biomass C storage since the 1990s. Our results indicate that CO₂ fertilization dominated the forest biomass C sink over the past decades, and provide an essential step toward better understanding the key role of forests in land-based policies for mitigating climate change.     

Periodicity and time trends in the prevalence of total births and conceptions with congenital malformations among Jews and Muslims in Israel, 1999‐2006: A time series study of 823,966 births

BACKGROUND Congenital malformations (CMs) are a leading cause of infant disability. Geophysical patterns such as 2‐year, yearly, half‐year, 3‐month, and lunar cycles regulate much of the temporal biology of all life on Earth and may affect birth and birth outcomes in humans. Therefore, the aim of this study was to evaluate and compare trends and periodicity in total births and CM conceptions in two Israeli populations. METHODS Poisson nonlinear models (polynomial) were applied to study and compare trends and geophysical periodicity cycles of weekly births and weekly prevalence rate of CM (CMPR), in a time‐series design of conception date within and between Jews and Muslims. The population included all live births and stillbirths (n = 823,966) and CM (three anatomic systems, eight CM groups [n = 2193]) in Israel during 2000 to 2006. Data were obtained from the Ministry of Health. RESULTS We describe the trend and periodicity cycles for total birth conceptions. Of eight groups of CM, periodicity cycles were statistically significant in four CM groups for either Jews or Muslims. Lunar month and biennial periodicity cycles not previously investigated in the literature were found to be statistically significant. Biennial cycle was significant in total births (Jews and Muslims) and syndactyly (Muslims), whereas lunar month cycle was significant in total births (Muslims) and atresia of small intestine (Jews). CONCLUSION We encourage others to use the method we describe as an important tool to investigate the effects of different geophysical cycles on human health and pregnancy outcomes, especially CM, and to compare between populations. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.     

Surgical anatomy of the anterior abdominal wall in normal viscera, dolichoviscerosis and visceroptosis

There are three types in position of the abdominal internal organs: visceronorm, dolichoviscerosis and visceroptosis. The anterior abdominal wall also has its own anatomical peculiarities at every type of the internal organs position. Anatomical differences of its structure at visceronorm and dolichoviscerosis in comparison with visceroptosis are characterized as following: the area of aponeurotic formations of the anterior abdominal wall at dolichoviscerosis and visceroptosis increases and that of the muscular-decreases. Umbilical and inguinal rings are essentially dilated in comparison with those at visceronorm. It means that at dolichoviscerosis and visceroptosis there are anatomical prerequisites for development of external hernias in the anterior abdominal wall. A considerable mobility of the intestinal tract loops at dolichoviscerosis and visceroptosis results in certain disturbances of its function and their outlet into hernial sacs.     

The vascular anatomy of the lower anterior abdominal wall: a microdissection study on the deep inferior epigastric vessels and the perforator branches

The deep inferior epigastric artery provides the main blood supply to the lower abdominal wall. Microdissection of the artery, its main branches, and the perforator vessels was undertaken in 20 cadavers. The artery was found to be associated with two veins in most of the cases (90 percent). The lateral division of the deep inferior epigastric artery and the perforator vessels it gives are more dominant (80 percent of cases) than the medial perforators (20 percent of cases). The lateral perforators were greater in number (80) and more consistent than those that arose from the medial division (28). The musculocutaneous perforators are the most important perforators supplying the anterior abdominal wall. An average of 5.4 large perforators (>0.5 mm in diameter) were dissected in each case. These perforators are mostly contained in the area lying laterally and below the umbilicus, with an average distance of 4 cm from the umbilicus. The musculocutaneous perforators may have a direct or indirect course. Larger perforators (>0.5 mm in diameter) were found to have a direct course through the subcutaneous fat to the skin. Smaller perforators do not reach the skin but terminate at the level of the deep fat layer by branching after piercing the rectus sheath. The direct perforator vessels with their associated veins (microdissection) keep a consistent diameter before dividing at the subdermal level and end by contributing to the subdermal plexus.     

Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations.

Recent data indicate that there is increased risk of congenital cardiovascular malformations (CCVM) within families of probands diagnosed with congenital cardiovascular malformations that are due to altered embryonic blood flow (flow lesions). In the present study, regressive models recently developed by Bonney were used to compare specific models of inheritance and to test for etiologic heterogeneity among three subgroups of 375 flow-lesion families identified by the Baltimore-Washington Infant Study. When all families were analyzed as a single group, the best-fitting model was a simple recessive model with Mendelian transmission; race did not have a significant effect on estimated risk. Separate analyses of families of probands with left heart defects, right heart defects, and ventricular septal defects (VSD) confirmed this simple Mendelian recessive model as the model of choice. However, when race was included as a covariate in these genetic models, there was evidence for significant heterogeneity among the three subgroups. There was an increased risk to relatives of white probands with right heart defects and to relatives of black probands with VSD, while there was no effect of race among relatives of probands with left heart defects. These results strongly suggest that there is etiologic heterogeneity in the control of CCVM among flow-lesion families and that the patterns of familial aggregation differ among the races.