Frequency Of Anomalies Research Articles

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly (n = 24), collecting system abnormalities (n = 14), cryptorchidism (n = 11), nephrolithiasis (n = 5), cysts (n = 5), and dysplasia (n = 1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWS(IC1) group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWS(UPD) and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWS(IC2) had renal findings (p = 0.003). Cryptorchidism was associated with abdominal wall defects (p < 0.001) appearing more frequently in BWS(IC2) (p = 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation.

Differentiation of melanoma and benign nevi by fluorescence in-situ hybridization

Malignant melanoma is sometimes difficult to distinguish from benign nevus, and ancillary confirmatory studies would be of value in selected cases. To accurately differentiate melanoma from benign nevus, we investigated the utility of chromosomal anomalies in skin biopsy specimens using multitargeted fluorescence in-situ hybridization (FISH). Skin biopsy specimens were retrospectively collected from 63 patients diagnosed with benign compound nevus (n=32) or malignant melanoma (n=31); each diagnosis was independently confirmed before study by a second dermatopathologist. Unstained tissue sections were hybridized for 30 min using fluorescence-labeled oligo-DNA probes for chromosomes 6, 7, 11, and 20. Fluorescent signals for each chromosome were enumerated in 30 cells per case. Numeric chromosomal anomalies were found in 0% (0 of 32) of normal epidermis, 6% (two of 32) of compound nevi, and 94% (29 of 31) of melanomas (nevus vs. melanoma, P<0.0001). The mean number of cells with chromosomal changes was 23 in melanoma specimens, significantly higher than that in compound nevi (P<0.0001). The most frequent chromosomal anomaly in melanoma was gain of chromosome 11, followed consecutively by gains of chromosomes 7, 20, and 6. Chromosomal anomalies detected by FISH had an overall sensitivity of 94% and specificity of 94% in the separation of nevus and melanoma. With the use of oligo-DNA probes, multitargeted FISH directed against chromosomes 6, 7, 11, and 20 is highly sensitive and specific for separation of nevus and melanoma. Unlike other traditional FISH probes, oligo-DNA probes required shorter hybridization time, allowing faster diagnostic evaluation.

Frequency, origins and courses of anomalous coronary arteries in 607 Turkish children with tetralogy of Fallot

The aim of this study was to investigate the incidence, origins and courses of coronary artery anomalies using a combination of angiographic and surgical methods in Turkish children with tetralogy of Fallot (ToF). Seventy-seven patients in whom coronary artery anomalies had been identified by angiography and/or at operation out of 549 ToF and 58 Fallot-type double outlet right ventricle (total 607) patients, were enrolled in the study. Coronary artery anomalies were identified in 12.7% of the patients. The incidence was 12.2% (67/549) in patients with aortic overriding 50%, and 17.2% (10/58) with aortic overriding 〉 50% (p 〉 0.05). The incidence of anomalous coronary arteries crossing the right ventricular outflow tract (RVOT) was 7.91%. The commonest anomaly was the left anterior descending artery (LAD) or accessory LAD arising from the right coronary artery (RCA; n = 25). Other frequent anomalies were single coronary ostium (n = 21) and enlarged conal branch of RCA (n = 18). In 62.3% (48/77) of the patients with a coronary anomaly, the anomalous vessels were crossing the RVOT. The ratio of crossing the RVOT was 92.0% for LAD arising from the RCA, 66.7% for conal branch, and 42.9% for single coronary ostium. Two thirds of the anomalous coronary arteries were crossing the RVOT, and had surgical importance. The most frequent coronary artery anomaly that crossed the RVOT was the LAD or the accessory LAD arising from the RCA. Also, an enlarged conus artery should be considered as an anomaly because of its surgical importance, given its high rate of crossing the RVOT.

Mechanisms of summertime precipitation variability in the Bolivian Altiplano: present and future

AbstractWater availability is a major constraint to rural agriculture in the Bolivian Altiplano. The ability of medium and high‐resolution CMIP3 models to simulate observed relationships between interannual Altiplano summer precipitation anomalies and large‐scale patterns of precipitation, 200‐hPa winds and 200‐hPa geopotential height is examined. Altiplano precipitation anomalies are known to be related to upper‐level wind anomalies, with westerly (easterly) anomalies associated with deficit (excess) rainfall. A majority of models are able to simulate an easterly/wet‐westerly/dry relationship in response to changes in the zonal flow produced by fluctuations in tropical tropospheric temperatures that affect the meridional temperature gradient, consistent with observations.The 21st century evolution of these relationships under conditions of greenhouse warming is also examined. Results indicate that wet anomalies will continue to require moisture transport from the east. However, expected changes in mean circulation (e.g. tropical tropospheric warming) will likely influence precipitation variability. Models that better simulate Altiplano precipitation variability project an increase in 200‐hPa westerly winds by 2050–2099, which are not favourable for precipitation in the Altiplano. The reduced frequency of summertime upper‐level easterly wind anomalies may explain projections for less frequent summertime rainfall. Models that better simulate Altiplano precipitation variability project reduced summertime precipitation, consistent with projections for more frequent westerly wind anomalies. Summertime soil moisture reductions are expected from about 2020 onward due to reductions in summer rainfall, increases in the runoff ratio, higher evapotranspiration rates, and reduced precipitation frequency. These findings are consistent with expected large‐scale changes in atmospheric circulation, providing confidence in the projections. These results have serious implications for water resources and food security in the Altiplano, but will require further testing with improved, higher‐resolution models. Copyright © 2011 Royal Meteorological Society

Epithelial integrity in palatal shelf elevation

The palate is the ceiling of the oral cavity that separates the nasal and oral cavities in mammals. Anterior two-thirds of the palate that has the bone and the rugae on the oral surface is the hard palate, and the posterior one-third of the palate lacks bone and is referred to as the soft palate. Palate development involves a sequential process of outgrowth, elevation, and fusion of palatal shelves. When these steps are interrupted or compromised, cleft palate, one of the most frequent human congenital anomalies, develops. In particular, during the elevation process, sufficient proliferation of palatal mesenchymal cells and concomitant synthesis of extracellular matrix (ECM) are required, and these are referred to as intrinsic factors. One of major extrinsic factors for this process is the functional maturation of masticatory muscles that are responsible for movement of the mandible and lingual muscles, such that the tongue can descend and sufficient space for shelf elevation is provided. In addition to these factors, recent findings have suggested that a third factor, epithelial integrity, may be an essential component for successful shelf elevation. For example, disruption of epithelial integrity can result in ectopic epithelial fusion between the palate and the mandible, or tongue, which anchors the palatal shelf to inhibit its elevation. Although most histological and molecular aspects of palatal elevation have been well reviewed, those of epithelial integrity have not been thoroughly elucidated. Therefore, in this review, features of epithelial integrity, and its contributing molecules, are described in relation to palatal shelf elevation in mice.

The Vacuum Bell For Treatment Of Pectus Excavatum: An Effectıve Tool For Conservatıve Therapy

Pectus Excavatum (PE) is the most common chest wall malformation and one of the most frequent major congenital anomalies, occurring in approximately 1 in every 300 births (1). In more than 85% of infants, the defect is already noticeable at birth. A later onset may be observed in patients with Marfan syndrome. Until the end of the last century, operations to correct PE deformities were largely based on the technique described by Ravitch (2). In 1998, a new technique of minimally invasive repair of PE (MIRPE) was first described by D. Nuss (3) to avoid several operative features of the modified Ravitch repair procedure. Today, the MIRPE technique is well established and represents a common used technique (4-9). The short operating time, smaller incisions and considerably less dissection has made the MIRPE procedure very appealing both to surgeons and patients, thereby resulting in a large increase of the number of patients requesting operative treatment, and consequently in an increase of the number of PE repairs. However, with the widespread use of the MIRPE procedure the character and number of complications has increased (4, 6-8, 10-12) (Table 1 and 2). Above all, recent studies report on an increasing number of near fatal complications (12-18). Additionally, in many cases of PE, the degree of pectus deformity does not immediately warrant surgery, yet patients may benefit from some type of nonsurgical treatment. Other patients are reluctant to undergo surgery because of the pain associated with postoperative recovery and the risk of imperfect results. Due to these facts, the introduction of the vacuum bell for conservative treatment of PE has made this alternative therapy a focus of interest of patients. The procedure of applying a vacuum to elevate the sternum was first used more than 100 years ago [19]. Despite the risks and unsatisfactory results after operative therapy for some patients, there has been little progress in the therapeutic use of the vacuum therapy during the last few decades. In the meantime, materials have improved and the vacuum devices can now exert strong forces. Our initial results using this method proved to be promising (20). Today, we report our ongoing experience using the vacuum bell for conservative treatment of PE. Note that a subset of these patients (the first 34 patients) was reported previously [20].

Syndrome de Klinefelter : qualité des gamètes et spermatogenèse

Klinefelter syndrome is defined by the presence of a supernumerary X chromosome in a phenotypic male. It is the most frequent gonosomic anomaly in infertile men with an incidence of 0.1 to 0.2% in newborn males. The presence of an additional X chromosome induces spermatogenic failure but when gametes are present, they are usually normal. The risk of transmission of the chromosomal anomaly remains low. In the literature, only one 47,XXY foetus resulting from more than a hundred births from fathers with Klinefelter syndrome, has been reported. One can estimate, that a TESE performed in half of the patients with non-mosaic 47,XXY will be positive and may enable IVF/ICSI to be achieved.

Percutaneous Nephrolithotomy Among Patients with Renal Anomalies: Patient Characteristics and Outcomes; a Subgroup Analysis of the Clinical Research Office of the Endourological Society Global Percutaneous Nephrolithotomy Study

This study compared the characteristics and outcomes of percutaneous nephrolithotomy (PCNL) in patients with and without renal malformations using the Clinical Research Office of the Endourological Society (CROES) PCNL Global Study database. The CROES PCNL Global Study collected prospective data for consecutive patients who were treated with PCNL at centers around the world during 1 year. Patient characteristics, operative data, and outcomes of PCNL in patients with renal anomalies and those with normal kidneys were compared. Of 5542 patients whose renal anatomy was recorded, 202 (3.6%) patients had a renal malformation. The most frequent anomalies were horseshoe kidneys (1.8%) and malrotated kidneys (1.3%). The prone position was the most frequently used position for patients with renal anomalies as was upper pole puncture. PCNL achieved stone-free rates of 76.6% in patients with anomalous kidneys and 76.2% in those with normal kidneys. The frequency of complications was similar in the two groups. Median operative time was significantly longer (87 min vs 75 min, P=0.037), and access for PCNL was unsuccessful in significantly more patients (5% vs 1.7%, P=0.001) in whom renal anomalies were present. In patients undergoing PCNL, the presence of renal malformation is likely to extend operative time. Stone-free rates as well as incidence of complications after PCNL are similar irrespective of the presence of renal anomalies.

Dental anomalies in the Japanese mole Mogera wogura from northeast China and the Primorsky region of Russia

Dental anomalies in the Japanese mole, Mogera wogura Temminck, 1842, from northeast China and the Primorsky region of Russia were examined based on 241 specimens. The most frequent dental anomaly was oligodonty, i.e., missing P2 (18 cases) or P3 (one case). Supernumerary teeth were observed in three cases, two of which were characterized by abnormal shapes. Morphological abnormalities in teeth (six cases) and an asymmetrically curved rostrum (one case) were also observed. Dental anomalies were found at higher frequencies in populations near the northern range limit of the species. This was not caused by size effects. We suggest that the high incidence of dental anomalies was the result of genetic drift, which increases in marginal populations. Considering the nature of subterranean mammals, our results suggest that the high frequency of dental anomalies in a marginal population could have initiated the evolution of dental formulae if parapatric or peripatric speciation occurs in such populations.

Prenatal detection and perinatal management of Taussig–Bing anomaly with coarctation of the aorta and singular coronary artery: a case report

We report on the rare case of prenatally detected Taussig-Bing anomaly complicated by a coarctation of the aorta and a singular coronary artery in an otherwise healthy boy. After initially successful arterial switch, a high-grade stenosis of the singular coronary artery leads to a severe biventricular heart failure 5 weeks after the procedure. Although immediate surgical intervention was carried out, the boy died due to already severely impaired myocardial function. This review discusses the perinatal management, typical diagnostic features, and frequent additional anomalies, as well as surgical strategies in complex Taussig-Bing anomaly.

Fetal Polydactyly

Records of 24 pregnancies with fetal polydactyly were reviewed for the type of polydactyly, family history, associated sonographic findings, genetic testing, and postnatal/postmortem examination findings. The importance of fetal polydactyly can be mainly elucidated by the family history and absent or associated anomalies on a specialized malformation scan. Fetal karyotyping diagnoses frequent chromosomal anomalies in about half of cases with additional malformations, and array comparative genomic hybridization may be a future means of detecting cryptic chromosomal aberrations. Syndromic disorders of monogenic origin demand a careful interdisciplinary clinical assessment for establishing a clinical diagnosis and prognosis for the outcome of the child.

Tratamiento de las malformaciones venosas con alambres de cobre

Vascular injuries of the skin constitute the most frequent congenital anomaly. They go from a simple pink stain, up to tumors that can cause great deformitie...

Supernumerary ectopic limb in lamb: a case report

Congenital malformations and defects of the limbs are among the most frequent congenital anomalies found in humans and animals. A 3-day-old female lamb was referred to the Veterinary Research and Teaching Hospital, University of Tehran, Iran with a supernumerary limb in the thoracic region. The accessory limb was undeveloped in this case. Radiographic examination of the extra limb in lateral view revealed its point of attachment to the body where it dangled from the sterna region. In the extra limb, the olecranon was absent and the lateral view revealed that two metacarpal and carpal bones and three digits were identified which were fused proximally but duplicated distally, which is abnormal in lambs. One of the distal extremities was joined to two complete digits, but the other distal margin was jointed to one digit (phalanx).

Frequency and distribution of developmental anomalies in the permanent teeth of a Turkish orthodontic patient population

Background/purpose The aims of this study were to determine the frequency and distribution of developmental anomalies in the permanent teeth of a Turkish orthodontic patient population and determine the relationships between gender and dental anomalies. Materials and methods A retrospective study was performed using pretreatment dental casts, panoramic radiographs, and intraoral photographs of 3165 Turkish orthodontic patients (1940 females and 1225 males) aged 9–25 years. These patients were analyzed for evidence of four types of developmental anomalies (tooth form, number, position, and structural dental anomalies). Descriptive characteristics of these dental anomalies, including gender, jaws, and sides of the jaw were recorded. The Pearson χ 2 test was used for the statistical analysis. Results In 452 (14.3%) of 3165 orthodontic patients, at least one permanent teeth anomaly was detected. Developmental dental anomalies were found in 15.05% of females compared with 13.06% of males. Impacted teeth were the most frequent dental anomaly (4.55%), followed by hypodontia (4.30%), peg-shaped lateral incisors (2.15%), ectopic eruption (1.52%), and hyperdontia (1.30%). Peg-shaped lateral incisors, hypodontia, oligodontia, transposition, transmigrant canines, ectopic eruption of canines, impacted teeth, and amelogenesis imperfecta were more common in females, whereas macrodontia and hyperdontia were more common in males. However, these differences were not statistically significant except for hypodontia and hyperdontia. Conclusion The prevalence of developmental dental anomalies was higher in females than males. Impacted teeth were the most common developmental dental anomaly in this Turkish orthodontic population, followed by hypodontia.

The Internal Mammary Artery Perforator (IMAP) Breast-Flap Harvested From an Asymmetric Hyperplastic Breast for Correction of a Mild Funnel Chest Deformity

Pectus excavatum deformity is the most frequent congenital anomaly of the thoracic wall. If the invasive surgical procedures of thoracoplasty are not indicated or the patient refuses them, alternative treatment options should be considered. In such cases, local or distant transposition of autologous tissue could be appropriate. This report presents a selected case of funnel chest deformity and concomitant unilateral breast hyperplasia. Both deformities were corrected simultaneously using a pedicled internal mammary artery perforator (IMAP) flap dissected from the hyperplastic breast. This is a safe, reliable, low-morbidity, one-stage option for adult women that uses an easy-to-harvest flap for simultaneous correction of mild funnel chest deformity and concomitant breast hyperplasia with a single resulting scar.

Congenital anomalies in the baboon (Papio spp.)

A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. We identified 198 congenital anomalies in 166 baboons from 9972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. The baboon has an overall frequency of congenital anomalies similar to humans and other non-human primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon.

Sequence variations in human ZP genes as potential modifiers of zona pellucida architecture

To examine putative associations between zona pellucida (ZP) anomalies and sequence variations in genes expressing structural ZP glycoprotein components, sequence data of 31 volunteers participating in IVF treatments were obtained and analyzed together with morphologic data of the respective oocytes. Our results suggest that some of the most frequent zona anomalies may be at least partly explained by sequence variations in genes expressing the four human ZP proteins, especially those in ZP2 and ZP3.

Anthropological analysis of the phenomenon of atlas occipitalisation exemplified by a skull from twardogóra (17th c.)—southern Poland

ABSTRACTOccipitalisation of the atlas is one of the most frequent osseous anomalies of the atlas. It is characterised by the adhesion of the first cervical vertebra with the basilar part of the occipital bone. The most probable cause of the occipitalisation is a congenital disorder. The atlanto‐occipital fusion may lead to narrowing of the space for medulla oblongata, spinal cord and vertebral artery. This in turn may lead to many physiological symptoms. The skull from Twardogóra, Southern Poland, showed partial atlanto‐occipital fusion and presented an asymmetry in structure and shape of apertures for the vessels and nerves around the foramen magnum. Copyright © 2011 John Wiley &amp; Sons, Ltd.

Association of Interatrial Septal Abnormalities with Cardiac Impulse Conduction Disorders in Adult Patients: Experience from a Tertiary Center in Kosovo

Interatrial septal disorders, which include: atrial septal defect, patent foramen ovale and atrial septal aneurysm, are frequent congenital anomalies found in adult patients. Early detection of these anomalies is important to prevent their hemodynamic and/or thromboembolic consequences. The aims of this study were: to assess the association between impulse conduction disorders and anomalies of interatrial septum; to determine the prevalence of different types of interatrial septum abnormalities; to assess anatomic, hemodynamic, and clinical consequences of interatrial septal pathologies. Fifty-three adult patients with impulse conduction disorders and patients without ECG changes but with signs of interatrial septal abnormalities, who were referred to our center for echocardiography, were included in a prospective transesophageal echocardiography study. Interatrial septal anomalies were detected in around 85% of the examined patients. Patent foramen ovale was encountered in 32% of the patients, and in combination with atrial septal aneurysm in an additional 11.3% of cases. Atrial septal aneurysm and atrial septal defect were diagnosed with equal frequency in 20.7% of our study population. Impulse conduction disorders were significantly more suggestive of interatrial septal anomalies than clinical signs and symptoms observed in our patients (84.91% vs 30.19%, P=0.002). Right bundle branch block was the most frequent impulse conduction disorder, found in 41 (77.36%) cases. We conclude that interatrial septal anomalies are highly associated with impulse conduction disorders, particularly with right bundle branch block. Impulse conduction disorders are more indicative of interatrial septal abnormalities in earlier stages than can be understood from the patient’s clinical condition.

Reproductive Outcome in Women with Congenital Uterine Anomalies

Background: Mullerian duct malformations delineate a group of congenital anomalies that result from arres-ted development, or incomplete fusion of the mesone-phric ducts. In many patients, uterine anomalies have been related with infertility, recurrent pregnancy loss, prematurity and other obstetric complications which increase perinatal morbidity and mortality rates, where as in others these malformations are asymptomatic and have normal reproductive performance. Purpose: To determine the reproductive outcome in women with congenital uterine anomalies. Design: Descriptive cross sectional survey. Main Outcome Measures: Miscarriages, Preterm delivery, Ecotpic pregnancy, Term delivery. Material and Methods: A total of 1600 infertile women in the age group of 25 - 35 years were rec-ruited in the outpatient department of Gynae and Obs-tetrics in Sharif Medical City Hospital from June, 2008 to June, 2009. The patients included in study were the women presenting with either primary or secondary infertility, bad obstetrical history, recurrent miscar-riage, preterm deliveries, and ectopic pregnancies. Combined finding of trans-vaginal ultrasonography and hysterosalpingography were used to diagnose con-genital uterine anomalies. 48 women were diagnosed with congenital uterine anomalies. Eight patients of primary infertility with uterine anomalies were excluded. The retrospective analysis of 40 cases with secon-dary infertility and uterine anomalies was done for reproductive performance. Results: Among 1600 infertile women, the average age of the study group was 30 years ± SD 4.77. Forty eight patients were diagnosed with congenital uterine abnormalities. Among infertile population the most frequent uterine anomalies was bicornuate uterus (45.83%) followed by arcuate uterus (33.33%). The overall frequency of congenital uterine anomalies was 3%. Women with secondary infertility (83.3%) had higher frequency of mullerian duct anomalies in com-parison to women with primary infertility (16.7%). In all these abnormalities, miscarriages (25%) and pre-term delivery (22.5%) were quite common. ( P <.0750). The reproductive potential of the bicornuate uterus showed a live birth rate of (67%) and, arcuate uterus of (42.8%). Unicornuate and Septate uterus were associ-ated with poor obstetrical outcome. Conclusion: Congenital uterine anomalies are rela-tively frequent among infertile population and are associated with higher miscarriages and preterm births but may be compatible with normal reproductive out-come. Key Words: Uterine anomalies, preterm birth, mis-carriages.