Embolization of congenital pulmonary arteriovenous malformations

Patients with arteriovenous pulmonary malformations are at risk of developing secondary brain disease such as transient ischemic attacks, strokes or abscesses. Lethal haemothorax and haemoptysis also occur. 12 of 14 malformations in five patients were treated using a total of eight procedures. One patient experienced a transient unilateral hemiparesis, otherwise no complications occurred. None of the 43 deployed occlusion coils was lost through the fistulas. Complete occlusion was achieved in all lesions where coils could be placed in a stable position. One patient suffered a minor recurrence. The use of interlocking detachable coils (IDC) which can be retracted or repositioned prior to full deployment is recommended.     

Genetics of limb development and congenital hand malformations

Differences in breeding values between dominance and additive models were examined theoretically and with field data. Data included 5.2 million records on stature from 3.0 million US Holsteins. The largest full-sib family had 29 animals, and 7% of all animals had at least one full sib. The dominance model, which accounted for dominance covariances, included the following effects: management, age, stage of lactation, permanent environment, animal additive, and parental dominance (one-quarter of dominance variance) as well as a regression coefficient for inbreeding percentage. Two reduced models were also assumed; in the first, the parental dominance effect was removed, and, in the second, the inbreeding regression coefficient was also removed. The correlations between breeding values in the three models were > 0.999, but breeding values of some animals from full-sib families changed > 5 standard deviations of parental dominance. The largest changes were observed for parents with large numbers of full-sib progeny, with limited information from parents, and without individual performance records. On average, the differences were up to four times larger for cows than for bulls and up to five times larger for dams than for sires. The greatest differences in breeding values between the dominance and the additive models were observed for dams with full-sib progeny, female full sibs, and low reliability bulls with full sibs in the extended family. Animals with large amounts of additive information as progeny-tested bulls were influenced little by the inclusion of dominance. Animals with a large proportion of information coming from animals with dominance relationships, such as cows originating via embryo transfer changed the most.     

MR cholangiography of congenital biliary malformations in infancy

We presented MR cholangiography (MRC) of congenital biliary malformations in infancy. MRC was obtained during induced sleeping. In two cases of congenital dilation of bile duct, MRC revealed cystic or spindle dilatation of intra- and extra hepatic bile ducts. In one biliary atresia, MRC revealed the serpentine gall bladder and cystic dilatation of the extrahepatic bile duct without connection to the dilated hilar bile duct. MR cholangiography, which can be obtained noninvasively, is useful for the diagnosis and the preoperative assessment of congenital biliary malformations in infancy.     

Toe transplantation in congenital malformations of the hand

Toe transfer is a well established procedure for thumb and finger reconstruction after mutilation. The indications in congenital malformations are a mater of controversy. Out of a personal series of 209 patients, 42 were children presenting a congenital malformation. Thirty six, with 46 transfers were available for review. There is only one failure at the beginning of our experience. The main indication was absence of pinch either due to absence of thumb (like in congenital band syndrome or some extreme cases of ulnar club hand or cleft hand) or absence of long finger (like in symbrachydactyly monodactylous type) or lack of both thumb and finger (like in peromelic type of symbrachydactyly). In this last type, we have been disappointed by the functional result of the distal implantation of two second toes taken from both feet; we have proposed a "stub" operation consisting in a second toe transfer on the anterior aspect of the radial epiphysis to take advantage of the mobility of the wrist and the availability of plenty tendon transfer (in this proximal situation). When planing to "built" an absent pincer, an early age is mandatory for operation (mean 12 months), to ensure a good cortical integration. A less frequent indication is a partial toe transfer with a vascularized epiphysis to provide growth and mobility in some cases of thumb hypoplasia (like in symbrachydactyly or Blauth and Manske type III b). Results are difficult to assess due to the early operation but if the mobility has been disappointing (mean 32 degrees), sensibility (mean 2PD 5 mm) and growth were excellent.     

Maternal occupation in the leather industry and selected congenital malformations

OBJECTIVE: Our purpose was to measure intra-amniotic pressure before and after decompression amniocentesis in twin-twin transfusion syndrome. STUDY DESIGN: Intra-amniotic pressures were measured during decompression amniocentesis on 18 occasions in 5 pregnancies complicated by twin-twin transfusion syndrome. The intra-amniotic pressure was determined with a water manometer before and after removal of amniotic fluid. For comparison, intra-amniotic pressure was determined in 10 uncomplicated gestations. RESULTS: Initial intra-amniotic pressures in twin-twin transfusion gestations (mean, 17.2 +/- 5.2 cm H2O; range, 5.5 to 33.0 cm H2O) were higher than those of the uncomplicated gestations (mean, 8.4 +/- 3.3 cm H2O; range, 3.5 to 13.5 cm H2O; p < 0.002). Intra-amniotic pressures following therapeutic amniocentesis (mean, 10.9 +/- 5.1 cm H2O; range, 3.5 to 23.0 cm H2O) were not different from those of the uncomplicated gestations (p = 0.16). CONCLUSION: The intra-amniotic pressure in twin-twin transfusion gestations is higher than that of the uncomplicated gestation. Decompression amniocentesis reduces intra-amniotic pressure to that of the uncomplicated gestation.     

Anthelmintic induced congenital malformations in sheep embryos using netobimin

Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.     

A transpubic approach for reconstructive surgery of genitourinary injuries and congenital malformations

Four children were operated on by the transpubic approach for injury to the vagina or urethra and to correct malformations within the pelvis minor. One boy had posttraumatic stricture of the urethra, and a girl presented with disruption of the urethra and vagina. One of two boys who had congenital malformations was treated for epispadias and incontinence; the other for a large urethral diverticulum caused by anal atresia. Total reconstruction was achieved, and no complications of symphysis restoration were observed.     

Long-term survival in a patient with congenital laryngeal atresia and multiple malformations

A 74-year-old female with the chief complaint of lower abdominal and anal pain had been suffering from total incontinence due to cerebral palsy since her childhood. A giant stone was palpable on vaginal examination. A radiograph showed a giant calcification in the pelvis. Magnetic resonance imaging (MRI) revealed a giant vesico-vaginal stone, which occupied most of the bladder and vagina. Cystolithotomy was performed. The removed stone weighed 435 g, and measured 9.0 x 6.5 x 5.5 cm, and was composed of magnesium ammonium phosphate. To our knowledge only eight cases of female giant vesical stone have been reported. We herein report a rare case of vesico-vaginal stone unrelated to gynecological procedures.     

Associations between congenital malformations and childhood cancer. A register-based case-control study

This report describes a population-based case-control study that aimed to assess and quantify the risk of children with congenital malformations developing cancer. Three sources of data were used: the Victorian Cancer Register, the Victorian Perinatal Data Register (VPDR) and the Victorian Congenital Malformations/Birth Defects Register. Cases included all Victorian children born between 1984 and 1993 who developed cancer. Four controls per case, matched on birth date, were randomly selected from the VPDR. Record linkage between registers provided malformation data. A matched case-control analysis was undertaken. Of the 632 cancer cases, 570 (90.2%) were linked to the VPDR. The congenital malformation prevalence in children with cancer was 9.6% compared with 2.5% in the controls [odds ratio (OR) 4.5, 95% CI 3.1-6.7]. A strong association was found with chromosomal defects (OR=16.7, 95% CI 6.1-45.3), in particular Down's syndrome (OR=27.1, 95% CI 6.0-122). Most other birth defect groups were also associated with increased cancer risk. The increased risk of leukaemia in children with Down's syndrome was confirmed, and children with central nervous system (CNS) defects were found to be at increased risk of CNS tumours. The report confirms that children with congenital malformations have increased risks of various malignancies. These findings may provide clues to the underlying aetiology of childhood cancer, as congenital malformations are felt to be a marker of exposures or processes which may increase cancer risk. The usefulness of record linkage between accurate population-based registers in the epidemiological study of disease has also been reinforced.     

Analysis of 309 cases of esophageal atresia for associated congenital malformations

We describe a 50-year-old man with adult T-cell leukemia complicated by laryngeal tuberculosis whose tumor cells proliferate in response to IL-2 in a paracrine manner. On admission, the patient's white blood cell count was 17,900/mm3; 73% were abnormal lymphocytes with convoluted nuclei. FACS analysis showed that the tumor cells were CD4-negative, CD8-positive T cells. Southern blot analysis of tumor cells revealed integration of a defective HTLV-I genome lacking gag and pol genes. He was diagnosed with chronic ATL complicated by laryngeal tuberculosis. The primary leukemic cells expressed IL-2R alpha and IL-2R beta detected by FACS and Northern blot analysis and showed marked growth in response to exogenously added recombinant IL-2 in short-term cultures. Northern blot analysis did not show any IL-2 mRNA. We have previously demonstrated that primary leukemic cells from some ATL patients grow in response to IL-2 in an autocrine or paracrine manner. These results suggest that in CD8 ATL, IL-2 may be involved in a paracrine manner.     

Genetic-demographic structure and prevalence of congenital malformations in rural regions of the Kursk district

Investigation of the the genetics, demography, and epidemiology of congenital malformations (CMs) in Kursk oblast revealed statistically significant correlations between population parameters and the incidence of CM in the rural rations of the oblast. The general prevalence of CM and that of the separate CM forms ("guard" CM, multiple CM, hemangioma, congenital heart disease, congenital myelocele, talipes valgus, congenital femoral luxation, polydactyly, cryptorchism) increased with an increase in the average marital age of men and women of the reproductive part of the population and with an increase in the level of the populations homozygosity (an increase in the local consanguinity and ethnic marriage assortativeness, a decrease in the populations's migration activity, an increase in the proportion of genotypes homozygous for recessive genes, etc).