Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel''s diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.     

Sirenomelia: A new type,Showing VACTERL Association with thomas syndrome and a review of literature

Sirenomelia or “mermaid syndrome” is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome. Birth Defects Research (Part A) 97:123–132, 2013. © 2013 Wiley Periodicals, Inc.     

VACTERL association and maternal diabetes: A possible causal relationship?

BACKGROUND: Some factors(s)/features(s) of maternal insulin‐dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e., the association of vertebral and cardiac defects, tracheo‐esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature. CASE: We report on a 3‐year‐old boy presenting with a constellation of blastogenetic malformations strongly suggestive of VACTERL association. His mother was affected by insulin‐dependent diabetes since she was 7 years old and pregnancy history disclosed very high glucose and HbA1c levels, especially during the first 2 gestational months. CONCLUSIONS: In an attempt to properly counsel the parents, we reviewed the literature and identified four additional patients with VACTERL and first trimester exposure to maternal diabetes mellitus. Although this evidence does not strongly support a causal relationship between these two conditions, additional arguments may substantiate this hypothesis. The pathogenesis of diabetic embryopathy in relation to the VACTERL phenotype is also discussed. Birth Defects Research (Part A), 2008. © 2008 Wiley‐Liss, Inc.     

Prenatal sonographic evaluation and postnatal outcome of renal anomalies

OBJECTIVE:

To determine the prognosis of antenatally detected renal anomalies by sonographic evaluation.

MATERIALS AND METHODS:

This was a follow-up study of all antenatally detected renal anomalies from January 2008 to Dec 2009 referred to fetal medicine clinic. Prenatal evaluation was done and cases were divided into four groups depending upon their prenatal sonographic findings. Post natal follow-up was done up to one year in cases of live babies. Autopsy was carried out in still born fetus after consent.

RESULTS:

The renal anomaly was detected in 55 cases, which were fully followed. The prognosis was said to be poor for group I cases with gross extra renal anomaly along with the renal anomaly, and for group II in which there was organic renal pathology with loss of renal function suggested by non-visualization of bladder and almost absent liquor. Prognosis was guarded and depended upon the gestational age of presentation in group III, which had obstructive uropathy; prognosis was good in group IV cases, which were mild, unilateral or which presented late.

CONCLUSION:

Prenatal sonographic evaluation gives reasonably accurate picture of the prognosis and can be very helpful in counseling the parents regarding prognosis and help in deciding the timing and route of delivery.     

Evidence for inheritance in patients with VACTERL association

VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.     

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

BACKGROUND

Tracheo‐esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood.

CASE REPORT

We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene.

CONCLUSIONS

GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc.     

A rare combination of coronary anomalies

Coronary anomalies are found in less than 1% of diagnostic coronary angiograms. The clinical relevance of these anomalies varies from insignificant to potentially lethal. The major role of coronary angiography in interventional cardiology and coronary surgery underscores the importance of having knowledge of the variations in coronary anatomy and their clinical relevance. We report a rare case of a patient with a combination of coronary anomalies: coronary fistulae, a double circumflex coronary artery and anomalous origin of a circumflex artery from the proximal right coronary artery. (Neth Heart J 2009;17:387-9.)     

The association between renal function and tooth loss in Japanese community-dwelling postmenopausal women

doi: 10.1111/j.1741‐2358.2011.00481.x
The association between renal function and tooth loss in Japanese community‐dwelling postmenopausal women Objectives: This study examined whether low renal function is associated with the number of remaining teeth among community‐dwelling elderly Japanese. Background data: Many elderly individuals display both low renal function and tooth loss. Materials and Methods: Subjects comprised 405 randomly selected women (55–74 years old). Serum cystatin C level was used to assess renal dysfunction. Multiple linear regression analysis was used to evaluate the relationship between number of remaining teeth and serum cystatin C level, with number of remaining teeth as the dependent variable. Six variables were selected as independent variables in the final model: serum cystatin C; age; mean clinical attachment level; serum cross‐linked N‐telopeptide of type I collagen level; body mass index and smoking habits. Results: Multiple linear regression analysis revealed a significant relationship between number of remaining teeth and serum cystatin C level. The beta value for serum cystatin C level for the number of remaining teeth was ?0.11 (p = 0.018). Conclusion: This study indicates a relationship between serum cystatin C level and number of remaining teeth, suggesting that low renal function could be associated with tooth loss.     

Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis

The authors describe a dysmature female newborn, with multiple birth defects, who died soon after birth. At first polydactyly and hydrometrocolpos let think of a Kaufman syndrome, with autosomal recessive inheritance. But due to the presence of other malformations and since polydactyly is preaxial, the whole clinical and anatomical picture may be put into the frame of VACTERL association, mainly sporadic. Thus seemingly hydrometrocolpos and urogenital sinus have to be added, although rarely, to the other known defects of the VACTERL association.     

Analysis of secondary phenotypes in multigroup association studies

Although case-control association studies have been widely used, they are insufficient for many complex diseases, such as Alzheimer's disease and breast cancer, since these diseases may have multiple subtypes with distinct morphologies and clinical implications. Many multigroup studies, such as the Alzheimer's Disease Neuroimaging Initiative (ADNI), have been undertaken by recruiting subjects based on their multiclass primary disease status, while extensive secondary outcomes have been collected. The aim of this paper is to develop a general regression framework for the analysis of secondary phenotypes collected in multigroup association studies. Our regression framework is built on a conditional model for the secondary outcome given the multigroup status and covariates and its relationship with the population regression of interest of the secondary outcome given the covariates. Then, we develop generalized estimation equations to estimate the parameters of interest. We use both simulations and a large-scale imaging genetic data analysis from the ADNI to evaluate the effect of the multigroup sampling scheme on standard genome-wide association analyses based on linear regression methods, while comparing it with our statistical methods that appropriately adjust for the multigroup sampling scheme. Data used in preparation of this article were obtained from the ADNI database.     

Incidence of chromosomal anomalies in early bovine embryos derived from in vitro fertilization

The incidence of chromosomal anomalies in early bovine embryos derived from follicular oocytes fertilized in vitro using sperm separated by Percoll density gradient centrifugation was investigated. Overall, chromosomal anomalies were observed in 13.7% (138/1005) of embryos. There were 14 haploids (1.4%), 2 hypodiploids (0.2%), 6 hyperdiploids (0.6%), 101 triploids (10.0%), 12 tetraploids (1.2%), 2 diploid/triploid mosaics (0.2%), and 1 diploid/tetraploid mosaic (0.1%). The frequency of triploidy was caused mainly by polyspermy. There was a significant difference in the frequency of embryos with abnormal chromosomes between the two bulls used (P < 0.005), but Percoll centrifugation did not affect the observed incidence of anomalies. The frequency of chromosomal anomalies in embryos at each stage increased with delay or arrest of development. These results suggest that the incidence of chromosomal anomalies depended on the conditions of in vitro fertilization and the arrest of development.