Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran

This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females). Anomalies of the musculoskeletal system had the highest incidence (0.38%), followed by central nervous system (0.28%) and genitourinary system (0.25%). The incidence of congenital malformations in different ethnic groups was 0.85%, 1.45% and 1.70% in native Fars, Turkman and Sistani groups respectively. Sex and ethnic background are factors in the rate of congenital malformations in this area

Prevalence of thoracic vertebral malformations in french bulldogs, pugs and english bulldogs with and without associated neurological deficits

Congenital vertebral malformations are common incidental findings in small breed dogs. This retrospective observational study evaluated the type and prevalence of thoracic vertebral malformations in 171 neurologically normal and 10 neurologically abnormal screw-tailed brachycephalic dogs. Neurologically normal dogs underwent CT for reasons unrelated to spinal disease, while affected dogs underwent MRI. Imaging studies were reviewed and vertebral malformations including hemivertebrae, block vertebrae, transitional vertebrae, and spina bifida were documented. The group of clinically normal dogs consisted of 62 French bulldogs, 68 Pugs and 41 English bulldogs. The group of affected dogs consisted of one French bulldog and nine Pugs. Overall, 80.7% of neurologically normal animals were affected by at least one vertebral malformation. There was a significant influence of breed, with thoracic vertebral malformations occurring more often in neurologically normal French bulldogs (P < 0.0001) and English bulldogs (P = 0.002). Compared to other breeds, hemivertebrae occurred more often in neurologically normal French bulldogs (93.5%; P < 0.0001 vs. Pugs; P = 0.004 vs. English bulldogs) and less often in neurologically normal Pugs (17.6%; P = 0.004 vs. English bulldogs). Neurologically normal Pugs were more often diagnosed with transitional vertebrae and spina bifida compared to other breeds (P < 0.0001 for both malformations). Of Pugs included in the study, 4.7% were diagnosed with clinically relevant thoracic vertebral malformations. When compared to the general veterinary hospital population, this was significantly more than the other two breeds (P = 0.006). This study indicates that thoracic vertebral malformations occur commonly in neurologically normal screw-tailed brachycephalic dogs. While hemivertebrae are often interpreted as incidental diagnostic findings, they appear to be of greater clinical importance in Pugs compared to other screw-tailed brachycephalic breeds

High-Flow Vascular Malformations in Children.

Children can have a variety of intracranial vascular anomalies ranging from small and incidental with no clinical consequences to complex lesions that can cause substantial neurologic deficits, heart failure, or profoundly affect development. In contrast to high-flow lesions with direct arterial-to-venous shunts, low-flow lesions such as cavernous malformations are associated with a lower likelihood of substantial hemorrhage, and a more benign course. Management of vascular anomalies in children has to incorporate an understanding of how treatment strategies may affect the normal development of the central nervous system. In this review, we discuss the etiologies, epidemiology, natural history, and genetic risk factors of three high-flow vascular malformations seen in children: brain arteriovenous malformations, intracranial dural arteriovenous fistulas, and vein of Galen malformations

Teratogenic effects of gabapentin on the skeletal system of Balb/C mice fetuses

Objectives: To evaluate the effects of gabapentin )GBP( administration on mice fetuses. Methods: This study was carried out in Birjand University of Medical Sciences during 2008. Thirty Balb/c pregnant mice were divided randomly into 3 groups: 2 experimental groups that received 25 mg/kg )I( and 50 mg/kg )II( of GBP intraperitoneally for the first 15 days of pregnancy, and a control group that received normal saline. External observations of day 18 fetuses and skeleton double staining were performed. Results: Both experimental groups showed similar disorders that can be categorized as the following: 1( decrease of fetal body weight and increase of fetal resorption, 2( macroscopic malformations, and 3( skeletal malformations. Fetal body weights were significantly lower, and fetus resorptions were significantly higher in both treated groups compared to the control group. Macroscopic malformations included exencephaly, limbs defects, brachygnathia, vertebral column deformity, and fetuses with severe retarded growth. Skeletal malformations included delayed ossification, scoliosis, calvaria deformity, and mandibular hypoplasia. Conclusion: This study revealed that GBP can induce previously unreported severe malformations if it is used continuously during the implantation, neurulation, and organogenesis stages of pregnancy. Therefore, it is suggested that great caution should be exercised in using GBP during the early stages of pregnancy until further studies are performed to better understand these effects

A developmental and genetic classification for malformations of cortical development: update 2012.

Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development

Symptomatic capillary telangiectasia of the pons and intracerebral developmental venous anomaly – a rare association [Simptomatska kapilarna teleangiektazija ponsa i intracerebralna razvojna venska anomalija: prikaz slučaja]

Various combinations of vascular malformations of the brain in one lesion have been reported, while others seem to be very rare. In this report, the authors discuss the case of a coexistence of an capillary telangiectasia of the pons and intracerebral venous anomaly. To our knowledge, this is the first report of coexistence of a capillary telangiectasia of the pons and intracerebral venous anomaly apparted from each other. These discrete vascular malformations of the brain raise attention on possible interrelations in the pathogenesis of these entities. We report a case of pontine capillary telangiectasia and intracerebral venous anomaly in a 42-year-old woman with a right side facial palsy. Hight field magnetic resonance imaging suggested presence of a capillary telangiectasia of the pons. Another lesion in the left frontal gyrus was attributable to the venous anomaly. Along with neuroradiological findings, results of the somatosensor evoked potentials, brain stem auditory potentials, laboratory analysis including blood, cerebrospinal fluid and urine investigation are demonstrated. Awareness of the magnetic resonance imaging finding of the capillary telangiectasias and of the venous anomalies may help in defining clinical correlates of this vascular malformations, while the follow up of these malformations might help to asses risk of vascular rupture. We and others previously selects capillary telangiectasia and venous anomaly in two discrete entities. Coexistence of these malformations in the brain apparted from each other appear to be very rare and raise attention on possible interactions in their natural history and pathogenesis

Bilateral intralobar pulmonary sequestration : a case report

Bronchopulmonary sequestration is a congenital lung malformation consisting of a non-functioning lung segment. Arterial supply to such a segment is found to be systemic rather than pulmonary, and by definition there is no communication with the tracheobronchial tree. It accounts for about 6% of all congenital pulmonary malformations. Bilateral bronchopulmonary sequestration is yet more uncommon. These malformations can be classified as either intralobar sequestration (the commoner type), or extralobar sequestration (in 14- 25%).peer-reviewe

Congenital malformations : a historical perspective in a Mediterranean community

Many important discoveries have been made in the last five decades in the field of hereditary mechanisms, environmental teratogenesis, prenatal diagnosis and medical/ surgical management of affected individuals with congenital malformations. The Maltese group of islands occupies a central position in the Mediterranean, being only 93 km away from Sicily and 290 km from Northern Africa. This location made the Islands an important meeting place for the various Mediterranean cultures throughout the ages. The history of malformations in the Maltese Islands reflects the cultural links with the mainland Mediterranean. The attitude towards congenital malformations can be divided into two periods - the Period of Superstitious Belief which reflected primitive man’s concepts and prevailed to at least the 17th century; and the Period of Modern Thought which began during the 18th century but made the most progress during the twentieth century.peer-reviewe

Characterization of atrazine-induced gonadal malformations in African clawed frogs (Xenopus laevis) and comparisons with effects of an androgen antagonist (cyproterone acetate) and exogenous estrogen (17beta-estradiol): Support for the demasculinization/feminization hypothesis.

Atrazine is a potent endocrine disruptor that both chemically castrates and feminizes male amphibians. It depletes androgens in adult frogs and reduces androgen-dependent growth of the larynx in developing male larvae. It also disrupts normal gonadal development and feminizes the gonads of developing males. Gonadal malformations induced by atrazine include hermaphrodites and males with multiple testes [single sex polygonadism (SSP)], and effects occur at concentrations as low as 0.1 ppb (microg/L). Here, we describe the frequencies at which these malformations occur and compare them with morphologies induced by the estrogen, 17beta-estradiol (E2) , and the antiandrogen cyproterone acetate, as a first step in testing the hypothesis that the effects of atrazine are a combination of demasculinization and feminization. The various forms of hermaphroditism did not occur in controls. Nonpigmented ovaries, which occurred at relatively high frequencies in atrazine-treated larvae, were found in four individuals out of more than 400 controls examined (1%). Further, we show that several types of gonadal malformations (SSP and three forms of hermaphroditism) are produced by E2 exposure during gonadal differentiation, whereas a final morphology (nonpigmented ovaries) appears to be the result of chemical castration (disruption of androgen synthesis and/or activity) by atrazine. These experimental findings suggest that atrazine-induced gonadal malformations result from the depletion of androgens and production of estrogens, perhaps subsequent to the induction of aromatase by atrazine, a mechanism established in fish, amphibians, reptiles, and mammals (rodents and humans)