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Other Anomalies (other + anomaly)
Selected AbstractsElectrical conductivity and crustal structure beneath the central Hellenides around the Gulf of Corinth (Greece) and their relationship with the seismotectonicsGEOPHYSICAL JOURNAL INTERNATIONAL, Issue 3 2000V. N. Pham A deep magnetotelluric sounding (MTS) investigation in the western part of the Gulf of Corinth has revealed a complex electrical image of the crustal structure. The geotectonic structure of the Parnassos unit and the Transition zone in the central Hellenides, overthrusting the Pindos zone both towards the west and towards the south, has been clearly identified by its higher resistivity and its intrinsic anisotropy related to the N,S strike of the Hellenides range. Subsequent N,S extension of the Gulf introduced another heterogeneous anisotropy characteristic that corresponds to E,W-trending normal faults on both sides of the Gulf. The 2-D modelling of the MTS results reveals the existence of a relatively conductive layer about 4 km thick at a depth greater than 10 km in the middle crust. It corresponds to a ductile detachment zone suggested by microseismic and seismic studies (King et al. 1985; Rigo et al. 1996; Bernard et al. 1997a). It may be attributed to the phyllite series lying between the allochthonous Hellenic nappes and the autochthonous Plattenkalk basement. Towards the east, under the Pangalos peninsula, approaching the internal Hellenides, the detachment zone could root deeply into the lower crust. Some strong local electrical anomalies are observed, reaching the conductive layer in the middle crust, such as that under the Mamousia fault and under the front of the overthrust of the Transition zone on the Pindos zone. Other anomalies affect only the shallower zones such as that beneath the Helike fault and in the Psaromita peninsula. These shallower anomalies provide complementary information to the study of spatial and temporal variations of the seismic anisotropy in relation to the short- and long-term tectonic activity of the Gulf (Bouin et al. 1996; Gamar et al. 1999). [source] Hemiazygos Venous Additional Pulmonary Flow for Successful Total Cavo-pulmonary ConnectionCONGENITAL HEART DISEASE, Issue 5 2007Koichi Sughimoto MD ABSTRACT Patients who underwent only Glenn procedure after being deemed unsuitable candidates for Fontan completion are not small in number, and may develop arterio-venous (AV) pulmonary malformations during the follow-up period. We present the case of a 17-year-old woman with severe systemic desaturation 13 years after Glenn procedure and repair of total anomalous pulmonary venous return. Among other anomalies, the patient disclosed hemiazygos continuation to a persistent left superior vena cava. This case supports the concept that returning flow from the abdominal vein plays an important role in the well-balanced growth of the pulmonary artery and in the inhibition of the pulmonary AV malformation. [source] Coarctation of a Right Aortic ArchJOURNAL OF CARDIAC SURGERY, Issue 3 2006Thomas S. Maxey M.D. We report of a 4-year-old boy who presented with a history of a stenotic bicuspid aortic valve who upon further evaluation was found to have a coarctation of a right-sided aortic arch. The frequency with which other anomalies exist in either of the above conditions requires thorough cardiac evaluation and detailed imaging. Surgical repair of this anomaly can safely be undertaken through a right thoracotomy. [source] Prenatal identification of isolated bilateral radial dysplasiaJOURNAL OF CLINICAL ULTRASOUND, Issue 3 2009Alfredo Mancuso Abstract Radial aplasia or hypoplasia is characterized by complete or partial absence of the radius and/or radial ray structure occurring in 1:30,000 live births. It may be unilateral or bilateral of varying severity, and may be isolated or associated with other anomalies. We report an unusual case of isolated radial aplasia at 20 weeks' gestation with complete absence of the right radius and thumb associated with marked hypoplasia of the left radius. The intrauterine 2- and 3-dimensional findings, postnatal radiographic evaluation, and autopsy results are reported. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2009 [source] The effects of thermal effluent exposure on the gametogenesis of female fishJOURNAL OF FISH BIOLOGY, Issue 1 2000D. Luk High temperature in Swedish and Lithuanian thermal effluent areas influenced gametogenesis of female perch Perca fluviatilis, roach Rutilus rutilus and pike Esox lucius negatively, indicating reduced reproductive capacity. Oocyte atresia started during vitellogenesis in autumn, and was often followed by asynchronous egg cell development. Among other anomalies, multi-nucleus oocytes and hermaphroditism were observed. No significant impact was seen in silver bream Blicca bjoerkna. Ruffe Gymnocephalus cernuus reacted by a tendency to produce an additional mature oocyte generation during the spawning period. Ovaries in roach from coastal areas were often infected by a microsporidian parasite Pleistophora mirandellae, causing severe damage to the gonad. Parasites were also detected in pike, but neither in perch nor in lake populations of roach. Fish living in open coastal environments did not avoid impact by moving out of the heated areas. There seems to be a conflict in some temperate fish between temperature preference behaviour and safeguarding normal reproduction. [source] Aplasia Cutis Congenita in a Defined Population from Northwest SpainPEDIATRIC DERMATOLOGY, Issue 6 2006Soledad Martinez-Regueira M.D. It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined population. A literature review of potential mechanisms implicated in the development of this condition was also conducted. A retrospective review of all case records of patients diagnosed with aplasia cutis congenita between January 1994 and December 2003 at Hospital Xeral-Calde, in the Lugo region of northwest Spain was undertaken. During the period of study four patients were diagnosed with this condition. Three of them were of the gypsy race. These three had aplasia cutis congenita associated with epidermolysis bullosa and deformed nails. The incidence of aplasia cutis congenita in our region was 2.8 cases per 10,000 newborns. It was found that the incidence of this disorder in northwest Spain was similar to that described in the literature. Careful study due to the frequent association of aplasia cutis congenita with other congenital anomalies and a complete obstetric and family history of all affected individuals are required to identify possible specific teratogens, intrauterine infections, chromosomal abnormalities, or history of this condition among relatives. [source] Clinical and molecular features of Joubert syndrome and related disorders,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 4 2009Melissa A. Parisi Abstract Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype,phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. © 2009 Wiley-Liss, Inc. [source] Genetic considerations in the prenatal diagnosis of overgrowth syndromesPRENATAL DIAGNOSIS, Issue 10 2009Neeta Vora Abstract Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of cavum velum interpositum cysts: significance and outcomePRENATAL DIAGNOSIS, Issue 10 2003Vered H. Eisenberg Abstract Objectives To describe a fetal cavum velum interpositum cyst (CVIC) and to review its clinical significance. Methods Description and follow-up of two cases with prenatal diagnosis of a midline cyst in the fetal brain, at the Chaim Sheba Medical Center. The cases were reviewed and followed-up by a multidisciplinary team that included sonographers, pediatric neurologists, pediatric neurosurgeons, radiologists, and clinical geneticists. Medline search of cases of cysts of the cavum velum interpositum as reported in the English literature. Results Two patients referred for consultation owing to midline cysts were diagnosed with isolated cysts of the cavum velum interpositum without other anomalies. Magnetic resonance imaging (MRI) of the fetal brain did not reveal any additional malformations in either case. Prenatal follow-up showed the cysts to be stable in one case and decreased in size in the other. Postnatal neurodevelopmental outcome to date is normal. (Range of follow-up: 6,24 months.) Eight cases reported in the literature as CVIC resulted in favorable prognosis in all without further intervention. However, one infant required ventriculoperitoneal shunting due to progressive hydrocephalus, but developed normally nonetheless. Conclusion Prenatal diagnosis of cysts of the cavum velum interpositum, which are isolated, single, stable in size, and not associated with other anomalies, is consistent with a favorable postnatal outcome. Copyright © 2003 John Wiley & Sons, Ltd. [source] Bilateral intravesical ureterocele associated with unilateral partial duplication of the ureter and other anomalies: proposal of a new variant to the classification of ureterocles based on a perinatal autopsy, review of the literature and embryologyAPMIS, Issue 10 2010SUNIL JAIMAN Jaiman S, Ulhøj BP. Bilateral intravesical ureterocele associated with unilateral partial duplication of the ureter and other anomalies: proposal of a new variant to the classification of ureterocles based on a perinatal autopsy, review of the literature and embryology. APMIS 2010; 118: 809,14. The aims of this study were to demonstrate a case of bilateral intravesical ureterocele associated with megacystis and mega-ureters, unilateral partial duplication of the ureter and unilateral segmental renal dysplasia of the upper pole and an accessory spleen and to propose an addition of the new variant to the classification of ureteroceles. A perinatal necropsy was conducted on the 21-week fetus by employing the Rokitansky procedure with evisceration performed in blocks. The autopsy revealed the aforementioned abnormalities without cardiac or neural anomalies. The amniocentesis report was normal. Ureterocele is a saccular expansion of the distal ureter. It is most commonly observed in females and children and usually affects the upper moiety of a complete pyeloureteral duplication. Four types of ureteroceles are described: (A) ureterocele with single ureter (10%); (B) ureterocele with total duplication and intravesical development (10%); (C) ureterocele with total duplication and extravesical development (62%); and (D) ureterocele with ectopic ureter (3%). One case in a new born with bilateral intravesical ureterocele associated with hydrouretero-nephrosis and hyperechogenic spots in kidneys has been reported, but bilateral intravesical ureterocele with unilateral incomplete pyeloureteral duplication has never been described in the literature. [source] GPR, ERT and magnetic investigations inside the Martyrium of St Philip, Hierapolis, TurkeyARCHAEOLOGICAL PROSPECTION, Issue 3 2009Luigia Nuzzo Abstract Hierapolis, Denizli, Turkey, was one of the most important Hellenistic-Roman cities in Asia Minor. Located about 250,km east of Izmir, the area is a UNESCO World Heritage Site because of its magnificent archaeological remains and the white travertine pool formations created by its peculiar geothermal setting. The Italian Archaeological Mission in more than 50 years of activity in Hierapolis has brought to light and restored important vestiges of the ancient city, helping to understand the urban layout in the various epochs of its development. In 2001,2003 geophysical surveys were performed by the University of Lecce in several areas inside the archaeological site of Hierapolis to support the archaeological excavations. This paper reports the results of the integrated geophysical surveys performed in 2003 inside the Martyrium of Saint Philip, a mausoleum built on the place where it is believed that the Apostle was martyred. Ground-penetrating radar (GPR), electrical resistivity tomography (ERT) and magnetic gradient investigations were carried out in the central octagonal room, whereas the accessible lateral rooms were surveyed with GPR and occasionally ERT. The acquisition was performed along a series of closely spaced lines and the processed data were visualized as two-dimensional vertical sections (GPR), map view (magnetic gradiometry), depth slices or three-dimensional volumes (GPR and ERT) to allow an integrated interpretation of the geophysical results. The analysis of the geophysical datasets revealed a series of anomalies in both the central and lateral rooms that could be ascribed to the building foundations and to other possible archaeological structures, probably related to earlier stages of the sacred building and to tombs, as well as other anomalies (voids, fractures) of presumable natural origin. Copyright © 2009 John Wiley & Sons, Ltd. [source] GPR survey to understand the stratigraphy of the Roman Ships archaeological site (Pisa, Italy)ARCHAEOLOGICAL PROSPECTION, Issue 1 2003M. T. Carrozzo Abstract Two surveys with ground-penetrating radar (GPR) were carried out in June and December 2000 at the Roman Ships archaeological site (Pisa, Italy). Both surveys were undertaken at selected locations, placed on the plan of excavation (,5 m from the ground surface), using a GSSI Sir System2 incorporating 35, 100, 200 and 500 MHz centre-frequency antennae. The main purpose of the two surveys was to test the value of radar in respect of penetration depth and, therefore, to reconstruct the geological stratigraphy, given the general not too favourable site conditions. The results showed that most of the GPR data acquired with the 35 MHz antenna were contaminated by strong reflections caused by above-ground objects near the survey lines. In fact, the archaeological area is protected on every side by iron barriers, around 6 m high, in order to guarantee the stability of the walls and to contain the present shallow groundwater. Therefore, it is very important to recognize the reflections through air (surface scattering) and not to confuse them with the reflections from underground geological features. For this purpose higher frequency antennae, less prone to surface scattering problems, although allowing shallower penetration depths, also have been used. Their higher resolution permitted the identification of some anomalies probably related to shallow stratigraphical boundaries, as well as other anomalies probably attributable to archaeological features. Moreover, the numerous measurements carried out in the second survey to estimate the velocity of propagation of the electromagnetic waves in the ground, contributed to a better interpretation of the geology of the site. Copyright © 2003 John Wiley & Sons, Ltd. [source] The association of split hand foot malformation (SHFM) and congenital heart defects,BIRTH DEFECTS RESEARCH, Issue 6 2008Alison M. Elliott Abstract BACKGROUND: Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs). METHODS: In total 48 SHFM1, 52 SHFM3, 48 SHFM4, 21 SHFM5, and four chromosome 8 patients were evaluated. In addition, we performed a literature review to identify "unmapped" SHFM patients with CHD to evaluate the various etiologies of this combination of findings. The London Dysmorphology Database also served as a resource to identify syndromes with this combination of phenotypic findings. Only patients presenting with both SHFM and CHD were included in the analysis. Classification of CHD among mapped and unmapped SHFM patients was performed utilizing the revised Clark classification. A closer inspection of the types of CHD found in this patient group was performed in order to investigate possible pathogenetic mechanisms. RESULTS: CHDs were found in 10% of SHFM1 patients, 47% of SHFM5 patients, but were not reported in SHFM2, SHFM4 patients, or patients mapped to chromosome 8. Forty-two syndromic cases and 15 cases of unrecognized syndromes were identified. CONCLUSIONS: The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms/genetic players are involved. Candidate genes for SHFM1 and SHFM5 include members of the DLX homeobox gene family. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source] An in ovo chicken model to study the systemic and localized teratogenic effects of valproic acidBIRTH DEFECTS RESEARCH, Issue 4 2002Amy I. Whitsel Background The antiepileptic valproic acid (VPA) is a teratogen whose embryopathic mechanism(s) remain uncertain. Elucidating potential cellular and molecular effects of VPA is complicated by systemic application paradigms. We developed an in ovo model to reproduce the teratogenic effects of VPA and a localized VPA application procedure to determine whether VPA can selectively effect abnormal development in one region of the embryo. Methods VPA was applied topically to chicken embryos in ovo at different embryonic stages. Embryos were later evaluated for gross and skeletal anomalies. Pax-2 and Pax-6 protein expression in the developing eye was also evaluated because VPA-induced eye anomalies are similar to those seen by the disruption of Pax-2 and Pax-6. For localized application, a thin sheet of the synthetic polymer Elvax was impregnated with VPA. A small piece of the VPA-impregnated polymer was applied directly to the presumptive wing bud region in Stage 10,17 embryos. Embryos were examined for gross and skeletal anomalies. Sham controls were employed for all experiments. Results Chicken embryos exposed to VPA in ovo demonstrated increased mortality, growth delay and anomalies similar to ones previously seen in humans: neural tube, cardiovascular, craniofacial, limb and skeletal. Pax-2 and Pax-6 protein expression was qualitatively diminished in the eye. Localized wing bud VPA exposure caused structural abnormalities in the developing wing in the absence of other anomalies in the embryos. These wing defects were similar to those observed after topical whole-embryo VPA application. Conclusions These results indicate that at least one mechanism for the teratogenicity of VPA involves a direct effect on developing tissue. The nature of the abnormalities observed implies that this effect may be mediated by disruption of genes that regulate pattern formation. Teratology 66:153,163, 2002. © 2002 Wiley-Liss, Inc. [source] Is screening for vesicoureteral reflux mandatory in infants with antenatal renal pelvis dilatation?ACTA PAEDIATRICA, Issue 12 2006KARL-JOHAN LIDEFELT Abstract Aim: To determine whether postnatal ultrasound (US) can guide the use of voiding cystourethrography (VCUG) in infants with antenatally detected renal pelvis dilatation (ARPD). Methods: 14000 pregnant women consecutively underwent routine US examination during the second trimester. US examinations later in pregnancy were performed as follow-up of previous anomalies or on obstetrical indications. One hundred and six fetuses with ARPD ,5 mm were identified. Two postnatal US examinations were performed in the newborns: on the 5th to 7th day and during the 3rd week of life. The findings were considered normal when renal pelvis dilatation (RPD) was ,7 mm on both US examinations, and no calyceal or ureteric dilatation or signs of renal dysplasia or other anomalies were present. VCUG was done 6 to 8 wk after birth. Results: In 53 of 103 analysable infants, the postnatal ultrasonographic findings were normal. The VCUG was abnormal in three of these 53 infants, all with vesicoureteral reflux (VUR) grade I. Of 50 infants who had abnormal US examinations, six had VUR, four of which were grade IV and V reflux. Conclusion: In infants with ARPD who undergo two postnatal US examinations with RPD ,7 mm and have no other abnormalities, VCUG is unnecessary. [source] Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complicationsACTA PAEDIATRICA, Issue 3 2006Richard M Lindley Abstract Aim: To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. Methods: We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. Results: 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2,16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long-term functional outcome. Conclusion: Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death. [source] | ||||||||||||||||