Frequency Of Anomalies Research Articles

Coral community life histories and population dynamics driven by seascape bathymetry and temperature variability.

Temperature variability, habitat, coral communities, and fishing intensity are important factors influencing coral responses to climate change. Consequently, chronic and acute sea-surface temperatures (SSTs) and their interactions with habitat and fishing were studied along the East African coast (~400km) by evaluating changes over a ~25-year period in two major reef habitats-island and fringing reefs. These habitats had similar mean and standard deviation temperature measurements but differed in that islands had lower ocean heights and flatter and less right-skewed temperature distributions than fringing reefs. These patterns arise because islands are exposed to deep offshore water passing through deep channels while being protected from the open ocean storms and the strong inter-annual current temperature variability. Within these two seascapes, coral communities are shaped by population responses to the variable temperature distributions as determined by the taxa's associations with the competitive-stress-ruderal (CSR) life history groups. For example, competitive taxa were more abundant where temperature distributions were flat and lacked frequent warm water anomalies. In contrast, ruderal, weedy, and generalist taxa were more common where temperature distributions were centralized, standard deviations high, and warm water anomalies more frequent. Finally, stress-resistant taxa were more common in reefs with high temperature skew but flatter temperature distributions. The rare 1998 thermal anomaly impacted and disturbed the ruderal and stressed reef more than the competitive communities. Ruderal became more similar to stressed communities while the stressed community moved further from the mean before recovering towards the competitive community. Competitive taxa were more common on islands and the deeper fringing reef sites while ruderal were dominant in shallow fringing reef lagoons. Over time, islands were less disturbed than fringing reefs and maintained the highest coral cover, numbers of taxa, and most competitive or space-occupying taxa. However, some island reefs with a history of dynamite fishing aligned with the stress-resistant communities over the full study period. Compared to the in situ SST gauges at the study site, temperature proxies with global coverage were often good at estimating mean and standard deviations of the SSTs but much poorer at estimating the shape of the temperature distributions that reflect chronic and acute stress, as reflected by kurtosis and skewness metrics. Given that these stress variables were critical for understanding the impacts of rare climate disturbances, global climate models that use mean conditions are likely to be poor predictors of future impacts on corals, particularly their species and life history composition. Better predictions should be possible if appropriate chronic and acute stress metrics and their proxies are identified and used.

Prevalence of Microdontia among Patients Undergoing Orthodontic Treatment

Objective: This study was carried out to determine the prevalence of microdontia among patients undergoing orthodontic treatment. Materials and Methods: This was a cross-sectional study conducted at Sindh Institute of Oral Health Sciences, (JSMU) from January-2020 to May-2020. Pre-treatment casts were taken of 140 subjects. The mesiodistal dimension of each tooth was recorded through the vernier caliper. Frequency and percentage were calculated for the presence of microdontia. The test applied was Pearson’s Chi-square test to assess the relationship between microdontia and variables like age and gender. P-value <0.05 was taken as statistically significant. Data analysis was performed on SPSS version 22. Results: A total of 140 subjects were selected i.e. 105 (75%) females and 35 (25%) males aged range 13 -30 years with mean age 18.29 ± 3.88. Out of 42, single tooth microdontia was found in 3 (7.1%), more than one tooth microdontia, and generalized microdontia was present in 36 (85.7%) and 3 (7.1%) respectively. Microdontia was found to be more common in the maxilla (n=42, 100%) than the mandible (n=14, 33.3%). It was found more common in females (n=37, 35.2%) as compared to males (n=5, 14.3%). Statistically significant relationship was found among gender and prevalence of microdontia (p=0.019) with a statistically insignificant relationship between age and presence of microdontia (p=0.228). Conclusions: Microdontia was found to be a frequent dental anomaly, was more common in maxilla and females with a significant association with gender.

Tratamiento temprano de alteraciones orofaciales con fisioterapia y placa palatina en niños con síndrome de Down

Down syndrome (DS) or trisomy 21 is the most frequent autosomal congenital anomaly, with a worldwide prevalence of 10/10,000; in Chile, the prevalence is 2.5/1,000 live births. People with DS present an open mouth with increased salivation, an everted lower lip, elevated and inactive upper lip, and lowering of the angle of the mouth on account of growth and development disorders, and muscular hypotonia. Objective: To evaluate the literature on the early treatment of orofacial alterations in children with DS to prevent or minimize them. Method: Search in PubMed and Scielo databases, regardless of the year of publication or language; 26 articles were selected. Results: There are positive effects on the orofacial motor function, observing significant changes in the most severe cases. Conclusions: A child with DS can benefit from early treatment, but there are insufficient comparable studies in terms of duration, age and type of therapy.

Type IA urethral duplication: a case report

Background: Urethral duplication is a rare congenital malformation mainly affecting men and boys. Although a number of theories have been proposed to describe this condition, the actual mechanism of this disorder is still not clear. The most frequent anomaly occurs in the sagittal plane, in which the duplicated urethra is in either dorsal or ventral position in relation to the orthotopic urethra. The therapeutic management of these conditions is complicated and depends on the presence of symptoms as well as the type of anomaly.Case Description: We present a case of urethral duplication in a 2 years old male child. The malformation was characterised by the presence of the meatus in the dorsal penoscrotal and accompanied by the sign of infection in it. Urethrography showed contrast stopped filling 2 cm from the meatus in the dorsal penoscrotal with a total dead-end impression as an accessory urethra and there was no abnormalities in the principal urethra looked from the contrast filled the penile urethra, bulbous urethra, prostatic urethra, and bladder. That was the form of Effmann Type IA urethral duplication. The dorsal accessory urethra was excised entirely without complication and he remains symptom-free eight months after surgery.Conclusion: In summary, urethral duplication is a rare clinical condition. It has many variants that were classified by Effman. Management depends on the anatomy of the duplication involved and the patient’s clinical symptoms.

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.

Congenital talipes equinovarus (clubfoot)

Congenital talipes equinovarus (clubfoot)

Multicentric Real Life Evaluation of the Impact of Next-Generation Sequencing on the Clinical Management of Chronic Myeloid Malignancies

Introduction Next generation sequencing (NGS) has allowed to improve knowledge about the genomic landscape of hematological malignancies. Somatic mutations (SM) are valuable new biomarkers but the utility of incorporating routine sequencing to guide diagnosis and therapeutic decisions remains challenging. We report here an observational multicentric study aimed at assessing the impact of SM testing by NGS in a real-life setting on the diagnosis and treatment of chronic myeloid malignancies (CMM). Patients and Method All patients who benefited from molecular assessment, between 10/2014 and 03/2019 in our University Hospital were included. All provided informed consent for data collection. All NGS requests were validated during a regional multidisciplinary concertation meeting. A custom targeted panel of 34 genes (145kbp i.e. ASXL1,BCOR, BCORL1, CBL, CSF3R, DNMT3A, ETV6, EZH2, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NPM1, NRAS, PIGA, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TNFAIP3, TP53, U2AF1, ZRSR2) was applied on DNA extracted from peripheral blood or bone marrow samples. DNA libraries, built with the Haloplex® target enrichment protocol (Agilent Technologies, Santa Clara, CA), were paired-end sequenced (150bp reads) with a MiSeq® Instrument (Illumina, San Diego, CA). Data analysis used an in-house pipeline including three variant callings (GATK HaplotypeCaller, VarScan and SAMTools). In a first group (A), NGS indication was to search for clonal hematopoiesis (CH), defined by the presence of at least one SM, in order to confirm or rule out a diagnosis of Idiopathic Cytopenia of Undetermined Significance (ICUS), Clonal Cytopenia of Undetermined Significance (CCUS), myelodysplastic syndrome (MDS), mixed myelodysplastic/myeloproliferative neoplasm (MDS/MPN), aplastic anemia (AA)/hypoplastic myelodysplasia (hMDS) or myeloproliferative neoplasm (MPN), based on recommendations of the WHO classification. In a second group (B), the theranostic impact of SM was studied. Prognostic SMs according to Bejar (2011) were used for MDS and MDS/MPN excluding chronic myelomonocytic leukemia that were analyzed with Itzykson score (2013) and/or CPSS-Mol score (Elena 2016). Prognostic SMs according to Vannucchi (2013) were used for myelofibrosis. Results The median age of the cohort was 60 years old (range: 10-87) with a median follow up of 1.1 years from molecular assessment to last follow-up. Within group A (94 patients), the most frequent blood count anomalies were cytopenia (68%), thrombocytosis (16%), and monocytosis (13%). The karyotype was normal in 77% and failed in 5% of the cases. Non-specific abnormalities (i.e. loss of chr Y, del 20q), were found in 8% of the cases. Before molecular assessment, the diagnoses proposed were ICUS (n=37), suspicion of MDS/MPN (n=16), AA/hMDS (n=16), or MPN (n=25). CH was detected in 31 patients comforting the diagnosis of CMM for 33% of group A (8 CCUS, 3 MDS, 7 MDS/MPN, 6 medullary hypoplasia, 7 MPN) patients. Considering the patients for whom no CH was detected (n=63), the initial suspected diagnosis of CMM was ruled out in 47 patients (i.e. 50% of group A). For the 16 remaining (i.e. 17% of group A), no firm diagnosis could be retained. Within group B (95 patients), NGS identified prognosis SM in 33% of the patients, i.e. poor prognosis SM in 24, including 8/40 MDS, 10/29 MDS/MPN and 6/17 myelofibrosis and good prognosis SM(SF3B1) in 7 of them, respectively 6/40 MDS and 1/29 MDS/MPN. Prognostic SMs had a therapeutic impact in 18/95 pts (19%). Indeed 13 patients with poor prognosis SM had a therapeutic change including 12 allogeneic stem-cell transplantation and 1 hypomethylating agent. Conversely, 5 patients with a good prognosis SM or absence of poor prognosis SM had a de-escalation of treatment intensity. Conclusion The use of NGS in daily practice had a clinical impact in both diagnostic and therapeutic decisions provided that the prescription is made in a critically explored context and not as a systematic test. In this "real life" cohort, the presence or absence of SM was a useful complement for integrated diagnoses in 83% of the patients, allowing to confirm (33%), or exclude (50%) a suspected condition. Moreover, in this cohort 34% of the patients had a SM with a reported prognostic impact and the treatment was modified in 19% of the cases. Yet, it remains necessary to integrate these results with other diagnostic criteria. Disclosures Peterlin: AbbVie Inc: Consultancy; Jazz Pharma: Consultancy; Astellas: Consultancy; Daiichi-Sankyo: Consultancy. Moreau:Janssen: Consultancy, Honoraria; Takeda: Consultancy, Honoraria; AbbVie: Consultancy, Honoraria; Celgene: Consultancy, Honoraria; Amgen: Consultancy, Honoraria. Le Gouill:Celgene: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Travel support; Roche-Genentech: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Travel support. Chevallier:Daiichi Sankyo: Honoraria; Incyte: Consultancy, Honoraria; Jazz Pharmaceuticals: Honoraria.

Long-term trends in the prevalence of congenital heart defects in patients with Down syndrome in southern Poland

IntroductionDown syndrome is one of the most common chromosomal abnormalities in humans. Patients have typical dysmorphic features and various congenital malformations. Congenital heart defects were reported as the most common of the latter, occurring in approximately 50% of the cases.The aimWe aimed to analyse the long-term trends in the prevalence of Down syndrome and related heart defects in the population of southern Poland (Krakow region)Material and methodsWe analysed 500 consecutive patients with Down syndrome who were born from 2006 through 2017 and were diagnosed at the Department of Medical Genetics, Jagiellonian University. Next, we compared our results with the data obtained in previous regional studies.ResultsThe prevalence of Down syndrome in the assessed period was 1.65 per 1,000 live births and was similar to the historical prevalence in our region. Cardiac malformations were detected in 57.6% of the patients and the common atrioventricular canal (CAVC) was the most frequent anomaly (35.1%). However, detailed analysis of the frequency of severe heart defects that usually require prompt surgical treatment in the course of infancy revealed that the percentage of CAVC has been significantly lower in recent years (p=0.033).ConclusionsThe prevalence of Down syndrome and the overall frequency of congenital heart defects have not significantly changed in recent years. However, the frequency of CAVC has decreased, which could be related to the technical progress in prenatal detection of this severe anomaly, and to the subsequent elective terminations of affected pregnancies. Further population studies are required to confirm the presence of this trend and elucidate its background.

First data from the new, unified database of the Hungarian case-control surveillance of congenital abnormalities

The Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA) is one of the largest case-control data sets of CA-surveillance in the world. We unified all data collected in the HCCSCA between 1980 and 2009 into a new, validated single database that is now open for examination. The details of this unified database are given in this paper. The total number of cases and control newborns is 32,345 and 57,231, respectively. The overall prevalence of CAs recorded in the HCCSCA was 10.7/1000 live-births. Data available for each pregnancy are: CA(s), gender, birth year/month/date, birth weight, gestational age, area of mother’s living, maternal age, paternal age, birth order, mother’s and father’s qualification, employment status and type of employment, mother’s marital status, outcome of previous pregnancies, maternal diseases during pregnancy (according to pregnancy months), drug intake during pregnancy (according to pregnancy months), folic acid and/or pregnancy vitamin supplement intake (according to pregnancy months), mother’s smoking habits and alcohol consumption patterns. The most frequent anomalies detected were ventricular septal defect (2864), atrial septal defect (1895), polydactyly (1499), hypospadias (1083), and unilateral cleft lip ± palate (961). According to ICD-10, 701 diseases have been found to affect case mothers during pregnancy. Eight hundred and sixteen drugs were identified that had been taken by mothers during pregnancy. The authors are absolutely open for any scientific cooperation based on this database.

P5685Abnormal anatomy of the coronary sinus in congenitally corrected transposition of the great arteries (double discordance): a pitfall for transvenous cardiac resynchronization therapy?

Abstract Background Congenitally corrected transposition of the great arteries (ccTGA) or double discordance is a rare congenital heart defect associating discordant atrioventricular and ventriculoarterial connections. Late prognosis depends on the progressive failure of the systemic right ventricle (RV). A possible cause for systemic RV dysfunction could be ventricular asynchrony. Cardiac resynchronization therapy (CRT) may thus be indicated in some cases. However, the cardiologists may experience some problems with the coronary sinus (CS) when implanting a 3-lead CRT transvenous system in these patients. Aim of the study To evaluate the anatomy of the CS and cardiac veins in specimens with ccTGA, in order to assess the feasibility of transvenous CRT. Material and methods Among the anatomic collection of the French Centre of Reference for complex CHD, 51 heart specimens had ccTGA with 2 ventricles. There were 33 post-natal and 18 fetal hearts. Hearts were reviewed with special attention paid to the course and drainage of the CS and cardiac veins. Segmental anatomy, location of the ventricular septal defect (VSD), status of the pulmonary outflow tract and anomalies of the atrioventricular valves were reviewed. Results Segmental anatomy was {S,L,L} in 46/51 hearts, {S,L,D} in 2 and {I,D,D} in 3. There was a VSD in 40 (outlet in 25, inlet in 11, both in 2, muscular in 2), pulmonary atresia in 13, subpulmonary stenosis in 6, abnormal tricuspid valve in 20/48 including Ebstein anomaly in 6, straddling in 9 (3 had replacement). The CS was always located behind the morphologically left atrium (LA). However, its anatomy was normal, with normal drainage into the morphologically right atrium, in only 25/51 (49% of cases). The CS was of reduced length with normal orifice in 17. Orifice was atretic with normal size CS in 2, and CS was completely absent in 6 with direct drainage of coronary veins into the LA. At least 1 available vein was found in all cases with patent CS orifice. Conclusion CS in ccTGA is always located behind the morphologically LA. However, its anatomy is abnormal in half of cases. The most frequent anomalies are reduced length (33%) and absent CS or atretic orifice (15.5%). The anatomy of CS should therefore be assessed by imaging techniques (multislice CT imaging or CS venography) before considering transvenous CRT in these patients.

Impact of sea surface temperature anomalies on giant clam population dynamics in Lakshadweep reefs: Inferences from a fourteen years study

Abstract Frequent sea surface temperature (SST) anomalies may have global consequences on marine biodiversity conservation through their potential impacts on fragile coral reefs and associated organisms such as the giant clams. However, effects of SST anomalies on giant clam population dynamics is not clearly understood as their slow life-history traits require long-term population studies for unravelling these patterns. Here, we have examined the effects of SST anomalies on Tridacna maxima by monitoring their populations in Lakshadweep archipelago across a 14 year period (2004–2017). We monitored T. maxima density annually in three reefs (Agatti, Bangaram-Tinakkara and Kavaratti) using 100 m × 8 m belt transects. The annual patterns of density change rate (λt) against time since bleaching were modelled and used to develop stochastic population growth models under different scenarios of bleaching incidence. Our study was preceded by one and intercepted by two El Nino events (1998, 2010 and 2016). Mean summer SST > 30 °C triggered T. maxima bleaching. Population density showed large inter-annual variations that were synchronous between reefs, showing gradual increase in density during 2004–2010, and decrease during 2010–2017. SST anomalies did not cause immediate clam mortality. However, T. maxima population change rate (λ) was 0.91 ± 0.05SE immediately after bleaching and increased by 0.02 ± 0.01SE per year, resulting in positive growth only after five years since bleaching. Time-series analysis of SST data (1965–2016) indicated increasing incidence of anomalous temperature (β = 0.09 ± 0.04SE). Population growth models showed stable density trend after 50 years under past bleaching incidence (20% yr−1), but declining density (R = −0.05 ± 0.02), high risk of quasi-extinction (0.31–0.61 across reefs), and low density (geometric mean: 9–15 individuals ha−1 across reefs) under the prevailing high bleaching incidence (40% yr−1). Thus, climate change induced frequent SST anomalies are likely to compromise the viability of giant clam populations.

Mineralogical and mechanical characterization of rammed earth external renderings of the south of Portugal

External renderings play an essential role in the longevity of rammed earth constructions. The most frequent anomalies in these constructions occur due to the interaction between the substrate and the external rendering, as a result of the different characteristics and behaviours of these materials. Their chemical and mechanical compatibility is essential to enhance the longevity of these constructions. In this study the external renderings of 15 old rammed earth constructions, located in the Barlavento algarvio, South Portugal, were characterized by wet chemical analysis, X-ray diffractometry, simultaneous thermogravimetric and differential thermal analysis, compressive strength and modulus of elasticity. The compressive strength tests were also applied to the rammed earth substrates. The results are presented and discussed. The mineralogical and mechanical compatibility between the renderings and the substrates is evaluated. The key characteristics are identified in order to design a more compatible replacement rendering.

Frequency of spinal anomalies in young and middle-aged patients with dorsopathy according to system analysis of roentgenograms

Introduction. Before the discovery of X-rays, the developmental anomalies of the musculoskeletal system were studied by anatomists. The X-ray method contributed to the signifi cant progress in the research and to the improvement of the diagnostics of developmental anomalies in vivo, including in the spine. Goal of research — to assess the frequency of anomalies and their types at all levels of the spine in patients suffering from dorsopathy.Materials and methods. Roentgenograms of all spinal regions of 399 patients aged 29–49 (169 men and 230 women) who came to see manual therapists and osteopaths about dorsopathy were studied with the use of the system analysis method.Results. The analysis showed that anomalies in the development of the spine occur in more than 80% of young and middle-aged patients who came to see an osteopath or a manual therapist, i. e. in 8 patients out of 10. Most patients (¹⁄³ of patients) had one developmental anomaly in the whole spine. Two developmental anomalies at different age periods occured on average in every fourth patient. Three spinal developmental anomalies were less common and were diagnosed in ¹⁄6 of patients. Four to six developmental anomalies throughout the spinal column were found in ¹⁄10 of middle-aged patients with dorsopathy. Cervical ribs, sacralization and the open channel of the sacrum were the most frequent anomalies. In patients with sacralization, symmetrical bilateral sacralization was as frequent as asymmetrical sacralization. An enlarged transverse process of LV was found on the left 3 times more often than on the right in patients with asymmetrical sacralization.Conclusion. Models of the system analysis of roengenograms of the spine are a reliable source of information for analyzing the frequency and localization of developmental anomalies at all levels of the spine.

Cervical vertebrae anomalies and cleft lip and palate: a systematic review and meta-analysis.

This study investigated the association of congenital cervical vertebrae anomalies (CVA) with the prevalence of cleft lip and palate (CLP) specifying the most frequent associations. A meta-analysis was based on the Preferred Reporting Items of Systematic reviews and Meta-Analyses guideline. A search of the PubMed, Embase, Web of Science, Science Direct, Scopus and Lilacs database was performed until March 2018. Clinical studies that evaluated CVA in individuals with CLP (experimental group) and without CLP (control group) was included. For the statistical analysis, the software Comprehensive Meta-Analysis (Biostat; Englewood, NJ) was used, with a p-value < 0.05 considered significant. A total of 10 articles were included, for a total of 2566 individuals with CLP and 2301 individuals without CLP. The meta-analysis indicated statistically significant differences and the group of individuals with CLP had an increased number of CVA when compared to the group of individuals without CLP (p < 0.05; 95% confidence interval, 2.41-6.11; heterogeneity: Q-value 32.8, I2 72.6%). This study indicated that CVA are associated with the presence of CLP. Among the patients with CVA the most frequent anomalies were the deficiency of the posterior arch, followed by the fusion of cervical vertebrae. Individuals with cleft palate and those with unilateral cleft lip and palateCLP had an increased prevalence of CVA.

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (P = 4.0 × 10-8); additionally, a rare damaging mutation in SOX11, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (P = 8.2 × 10-12). Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A, and CTNNA1, encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.

Prevalence of Dental Anomalies in Orthodontic Patients Referred To Dental School of Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Aim: The prevalence of dental anomalies in different ethnic groups is different. The aim of this study was to evaluate the prevalence of dental anomalies associated with different malocclusions in Yazd. Iran. Methods: In this retrospective study the census method was used (with the confidence interval of 95% and the error margin of 5%). Dental records of 450 orthodontic patients referred to dental school of Shahid Sadoughi University of Yazd, Iran between 2010 and 2015 were collected. Dental records were classified into skeletal class I, II and III malocclusions (based on ANB angle measurements on cephalograms) searching for dental anomalies related to number, size and position. Data were analyzed using t-test, ANOVA and chi-square tests. Results: A total of 405 patients, (251 females 62%, 154 males 38%) with the mean age of 15.5 ± 4.1 were assessed. 49% of patients had at least one anomaly. The most frequent anomaly was impaction (24.9%). Hypodontia was found in 14.5% of patients and mandibular wisdom tooth was the most commonly missing tooth. 2.9% of patients had supernumerary which the maxillary anterior presented the higher number of it. The frequency of dental anomalies was not different between males and females. There was no correlation between type of malocclusion and frequency of dental anomalies except for hypodontia which was significantly higher in class I malocclusion.Conclusion: The most common anomaly seen in patients referred to the school of dentistry was impaction.

Benchmarking the Indian National CartoDEM against SRTM for 1D hydraulic modelling

ABSTRACTAccurate forecasts are a necessity in a world with frequent flood disasters and climatic anomalies. Studies have demonstrated that one of the primary sources of uncertainty in flood modelling is the topographic input data, the bathymetry in particular. As high-resolution elevation/bathymetry datasets are often unavailable in developing regions, the present study benchmarks the freely available Indian National Digital Elevation Model (DEM) CartoDEM, against the currently preferred global DEM, SRTM, for 1D-hydrodynamic modelling. Techniques for improving simulated Water Surface Elevation (WSE) profiles, while using cross-sections derived from these free DEMs are proposed. A distributed vertical error characterization using ground surveyed control points was performed and used to correct the DEM-extracted cross-sections. The approach was tested by simulating a 25-year return period flood in a reach of the Erai River, near Chandrapur city in Maharashtra, India. The results show an improvement of ∼84% in the root-mean-squared-error value for the WSE generated by the SRTM after correction, while the CartoDEM degraded by ∼41%. It was observed that while the uncorrected CartoDEM performs better than the uncorrected SRTM, the converse is true after the bias correction.

Reduced models for computing pressure drop across stenosis

Stenosis, defined by a partial or full obstruction of arteries is one of the most frequent anomalies in the cardiovascular system. In clinical studies, blood pressure drop across the stenosis gives...

Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study

BackgroundCongenital heart defects (CHD) are the most common types of birth defects. The prevalence of CHD, mostly from retrospective studies, ranges between 2.1 and 10.7/1000 live births. For physicians to provide appropriate health care, it is important to know the prevalence of CHD within their patient populations. In this prospective study, we assessed the prevalence, risk factors, types, and survival of CHD among babies born to Saudi mothers over a three-year period.MethodsIn this prospective cohort study, all women delivered at Prince Sultan Military Medical City, Saudi Arabia over a three-year period and were recruited during their antenatal care visits or at delivery. Antenatal foetal anomaly scan, postnatal clinical examination, echocardiography, cardiac catheterization, and follow-up to 2 years of age were used to assess the patterns, prevalence, and survival of babies with CHD. A case-control study was nested within the original cohort to assess risk factors for CHD.ResultsOf 28,646 eligible births, 424 babies were diagnosed with CHD (14.8/1000 births), and 91 of these babies had severe CHD (3.2/1000 births). Associated non-cardiac anomalies were found in 40.1% (170 of 424) of these babies. Trisomy 21 was the most frequent chromosomal anomaly. Within the first 2 years of life, 74 of 424 babies died (17.4%). Among mothers with infants who had CHD without associated non-cardiac anomalies, risk factors for CHD included maternal age ≥ 31 years, body mass index ≥30, insulin-dependent diabetes, and an occupation of an unemployed housewife.ConclusionIn the Saudi population we studied, the prevalence of CHD was higher than reported in other populations in the Middle East and in Europe. Plans to ameliorate modifiable risk factors and improve prenatal diagnosis of CHD are needed.

Prevalence and survival of patients with anorectal malformations: A population-based study

BackgroundAnorectal malformations (ARMs) are the most frequent congenital intestinal anomalies. The aim of this study was to describe the epidemiology of anorectal defects between 1981 and 2014 and to evaluate patients' survival. MethodsA population-based study using data collected by an Italian, regional registry of birth defects and by the local Pediatric Surgery Units. ResultsA total of 428 individuals with ARM were identified, with an overall prevalence of 3.09 per 10,000 births. Characteristics associated with decreased survival were low birth weight (<2500 g) (HR 6.4; 95% CI, 2.3–17.9), the presence of two or more additional major defects (HR 7.9; 95% CI, 2.2–27.8), and birth before year 2000 (HR 4.7; 95% CI, 1.8–11.8). The 10-year survival probability was 100% for individuals with isolated ARM, regardless of their birth weight. Survival of patients with non-isolated ARM varied according to their year of birth and birth weight: 73.3% (≥2500 g) and 23.8% (<2500 g) in children born before 2000; 97.9% (≥2500 g) and 68.8% (<2500 g) in children born after year 2000. ConclusionsThis study found a significant improvement in the survival of individuals with anorectal malformations over the past decades and identified the strongest predictors of mortality. Level of evidence (prognosis study)Level II.