Penile anthropometry in North Indian children

Directory of Open Access Journals (Sweden)

Amilal Bhat

2015-01-01

Full Text Available Introduction: Physicians frequently encounter questions by parents regarding the normal size of a child′s penis. We evaluated normal variations of penile dimensions, correlation of penile length with height, weight, and body mass index (BMI of boys and analyzed the differences in penile dimensions from those reported from other countries. Materials and Methods: A cross-sectional study was conducted at our institution during October 2012-December 2012. A total of 250 subjects (birth to 10 years were evaluated and divided into 10 groups with 1-year interval taking 25 children in each. Penile dimensions measured twice by a single observer with Vernier calipers included the length of flaccid penis fully stretched and diameters at mid-shaft and corona. Diameters were multiplied by pi (π = 3.14 to calculate circumferences. Mean, standard deviation, and range were calculated. Height, weight, and BMI were noted and statistically correlated with the penile length using the Pearson correlation coefficient. Data were compared with similar studies reported on other populations in the past and individually evaluated with every study using Student′s t-test. Results: The mean values for the penile length, mid-shaft circumference, and coronal circumference were 3.34, 3.05, 3.29 cm during infancy, 4.28, 3.86, 4.11 cm during 4-5 years, and 5.25, 4.78, 5.05 cm during 9-10 years, respectively. The penile length increased with advancing age in successive age groups, but it did not have a direct correlation with either height, weight, or BMI. Penile dimensions in North Indian children were found to be statistically smaller in comparison with most studies from other countries. Conclusion: We provide the normal range and variations of penile dimensions in North Indian children.

Monthly mean wind stress along the coast of the north Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Shetye, S.R.; Shenoi, S.S.C.; Antony, M.K.; Krishnakumar, V.

Monthly-mean wind stress and its longshore and offshore components have been computed using the bulk aerodynamic method for each of a string of 36 two-degree-latitude by two-degree-longitude squares along the coast of the north Indian Ocean...

Coastal circulation in the North Indian Ocean: Coastal segment (14,S-W)

Digital Repository Service at National Institute of Oceanography (India)

Shetye, S.R.; Gouveia, A.D.

and as a result the circulation shows a distinct seasonal character. The nature of winds, precipitation, runoff, and tides in the region are summarized. Characteristics of large-scale near surface circulation and of water masses in the North Indian Basin...

The impact of summertime north Indian Ocean SST on tropical cyclone genesis over the western North Pacific

Science.gov (United States)

Zheng, Jiayu; Wu, Qiaoyan; Guo, Yipeng; Zhao, Sen

2017-04-01

In this study, we investigate the impact of interannual variability of boreal summertime (June-September) north Indian Ocean (NIO) sea surface temperature (SST) on the distribution of tropical cyclone (TC) genesis over the western North Pacific (WNP) using observational datasets. In the boreal summers with warm (cold) SST in the NIO, fewer (more) than normal TCs form over the entire WNP, with fewer (more) TCs forming north of 10°N and more (fewer) TCs forming south of 10°N. The warm (cold) SST in the NIO induces anomalous anticyclonic (cyclonic) vorticity north of 10°N and cyclonic (anticyclonic) vorticity south of 10°N, which contributes to the meridional seesaw-like distribution of WNP TC genesis. This study provides a new perspective to understand TC activities over the WNP and may help seasonal TC prediction.

Alu polymorphic insertions reveal genetic structure of north Indian populations.

Science.gov (United States)

Tripathi, Manorama; Tripathi, Piyush; Chauhan, Ugam Kumari; Herrera, Rene J; Agrawal, Suraksha

2008-10-01

The Indian subcontinent is characterized by the ancestral and cultural diversity of its people. Genetic input from several unique source populations and from the unique social architecture provided by the caste system has shaped the current genetic landscape of India. In the present study 200 individuals each from three upper-caste and four middle-caste Hindu groups and from two Muslim populations in North India were examined for 10 polymorphic Alu insertions (PAIs). The investigated PAIs exhibit high levels of polymorphism and average heterozygosity. Limited interpopulation variance and genetic flow in the present study suggest admixture. The results of this study demonstrate that, contrary to common belief, the caste system has not provided an impermeable barrier to genetic exchange among Indian groups.

SREBP-2 1784 G/C Genotype is Associated with Non-Alcoholic Fatty Liver Disease in North Indians

Directory of Open Access Journals (Sweden)

Surya Prakash Bhatt

2011-01-01

Full Text Available Background: Genetics of non-alcoholic fatty liver (NAFLD in Asian Indians has been inadequately investigated. This study aims to determine the association of the 1784G > C polymorphism in the SREBP-2 gene with NAFLD in Asian Indians in north India.

Evaluation of radiative fluxes over the north Indian Ocean

Science.gov (United States)

Ramesh Kumar, M. R.; Pinker, Rachel T.; Mathew, Simi; Venkatesan, R.; Chen, W.

2018-05-01

Radiative fluxes are a key component of the surface heat budget of the oceans. Yet, observations over oceanic region are sparse due to the complexity of radiation measurements; moreover, certain oceanic regions are substantially under-sampled, such as the north Indian Ocean. The National Institute of Ocean Technology, Chennai, India, under its Ocean Observation Program has deployed an Ocean Moored Network for the Northern Indian Ocean (OMNI) both in the Arabian Sea and the Bay of Bengal. These buoys are equipped with sensors to measure radiation and rainfall, in addition to other basic meteorological parameters. They are also equipped with sensors to measure sub-surface currents, temperature, and conductivity from the surface up to a depth of 500 m. Observations from the Moderate Resolution Imaging Spectroradiometer (MODIS) sensor onboard the National Aeronautics and Space Administration (NASA) AQUA and TERRA satellites have been used to infer surface radiation over the north Indian Ocean. In this study, we focus only on the shortwave (SW↓) fluxes. The evaluations of the MODIS-based SW↓ fluxes against the RAMA observing network have shown a very good agreement between them, and therefore, we use the MODIS-derived fluxes as a reference for the evaluation of the OMNI observations. In an early deployment of the OMNI buoys, the radiation sensors were placed at 2 m above the sea surface; subsequently, the height of the sensors was raised to 3 m. In this study, we show that there was a substantial improvement in the agreement between the buoy observations and the satellite estimates, once the sensors were raised to higher levels. The correlation coefficient increased from 0.87 to 0.93, and both the bias and standard deviations decreased substantially.

Hydrogeology and ground-water quality of glacial-drift aquifers, Leech Lake Indian Reservation, north-central Minnesota

Science.gov (United States)

Lindgren, R.J.

1996-01-01

Among the duties of the water managers of the Leech Lake Indian Reservation in north-central Minnesota are the development and protection of the water resources of the Reservation. The U.S. Geological Survey, in cooperation with the Leech Lake Indian Reservation Business Committee, conducted a three and one half-year study (1988-91) of the ground-water resources of the Leech Lake Indian Reservation. The objectives of this study were to describe the availability and quality of ground water contained in glacial-drift aquifers underlying the Reservation.

Cytokine gene polymorphisms and their association with cervical cancer: A North Indian study

Directory of Open Access Journals (Sweden)

Maneesh Kumar Gupta

2016-04-01

Conclusion: Therefore, the promoter polymorphisms in cytokine genes can be used as biomarkers to predict cervical cancer susceptibility in a north Indian population. However, such studies need to be carried out in different ethnic populations in order to discover the specific risk alleles, genotypes and combinations for disease prediction.

ECHOCARDIOGRAPHY BASED STUDY OF THE PREVALENCE AND PATTERN OF CONGENITAL HEART DISEASE (CHD IN 5-15 YEARS OLD SCHOOL GOING CHILDREN OF MANIPUR, A NORTH-EAST HILLY INDIAN STATE

Directory of Open Access Journals (Sweden)

Rajendra Singh Thangjam

2017-12-01

Full Text Available BACKGROUND CHD is the leading cause of morbidity and mortality in the developed world, while reports from India looking into the burden of the disease have been variable depending on the age group of subjects studied and the methodology involved. We were interested to find the prevalence and pattern of the disease in this north eastern Indian state of Manipur, which has a unique geographical and racial composition. MATERIALS AND METHODS This is a community based, prospective, cross sectional study where each and every child aged 5-15 years from randomly selected schools of Manipur were examined by 2D colour Doppler Echocardiography and physically as well, where the examiners were blinded, and the findings were noted independent of each other. The anthropometric parameters, clinical details and echocardiography findings were all recorded. RESULTS Of the 3600 children examined, 47 cases of CHD were detected, giving echocardiographic prevalence of 13 per 1000 where BAV (44% was found as the commonest lesion followed by VSD (17% and ASD (14%. Clinically detectable lesion was found in 21 subjects (VSD -8, ASD-7, PS-3, PDA -1, AVSD-1, BAV-1 with AR. Of the clinically detectable CHD, VSD was the commonest followed by ASD. In the subclinical CHD category, 20 cases of BAV, 4 cases of mild MVP without MR, 1 case of apical LV discompacta, 1 case of IASA were detected. CONCLUSION The echocardiography prevalence of congenital heart disease in school going children of Manipur is 13/1000. This highest ever reported prevalence of CHD in children is most probably related to the use of the highly sensitive investigative tool of Echocardiography in each subject of our study resulting in detection of clinically silent lesions.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment .... and plasma factor VII coagulant activity in Asian Indian families predisposed to .... Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Twentieth century North Atlantic climate change. Part II: Understanding the effect of Indian Ocean warming

Energy Technology Data Exchange (ETDEWEB)

Hoerling, M.P.; Xu, T.; Bates, G.T. [Climate Diagnostics Center NOAA, Boulder, CO 80305-3328 (United States); Hurrell, J.W.; Phillips, A.S. [National Center for Atmospheric Research, Boulder, CO (United States)

2004-09-01

Ensembles of atmospheric general circulation model (AGCM) experiments are used in an effort to understand the boreal winter Northern Hemisphere (NH) extratropical climate response to the observed warming of tropical sea surface temperatures (SSTs) over the last half of the twentieth Century. Specifically, we inquire about the origins of unusual, if not unprecedented, changes in the wintertime North Atlantic and European climate that are well described by a linear trend in most indices of the North Atlantic Oscillation (NAO). The simulated NH atmospheric response to the linear trend component of tropic-wide SST change since 1950 projects strongly onto the positive polarity of the NAO and is a hemispheric pattern distinguished by decreased (increased) Arctic (middle latitude) sea level pressure. Progressive warming of the Indian Ocean is the principal contributor to this wintertime extratropical response, as shown through additional AGCM ensembles forced with only the SST trend in that sector. The Indian Ocean influence is further established through the reproducibility of results across three different models forced with identical, idealized patterns of the observed warming. Examination of the transient atmospheric adjustment to a sudden ''switch-on'' of an Indian Ocean SST anomaly reveals that the North Atlantic response is not consistent with linear theory and most likely involves synoptic eddy feedbacks associated with changes in the North Atlantic storm track. The tropical SST control exerted over twentieth century regional climate underlies the importance of determining the future course of tropical SST for regional climate change and its uncertainty. Better understanding of the extratropical responses to different, plausible trajectories of the tropical oceans is key to such efforts. (orig.)

Impact of improved momentum transfer coefficients on the dynamics and thermodynamics of the north Indian Ocean

Science.gov (United States)

Parekh, Anant; Gnanaseelan, C.; Jayakumar, A.

2011-01-01

Long time series of in situ observations from the north Indian Ocean are used to compute the momentum transfer coefficients over the north Indian Ocean. The transfer coefficients behave nonlinearly for low winds (<4 m/s), when most of the known empirical relations assume linear relations. Impact of momentum transfer coefficients on the upper ocean parameters is studied using an ocean general circulation model. The model experiments revealed that the Arabian Sea and Equatorial Indian Ocean are more sensitive to the momentum transfer coefficients than the Bay of Bengal and south Indian Ocean. The impact of momentum transfer coefficients on sea surface temperature is up to 0.3°C-0.4°C, on mixed layer depth is up to 10 m, and on thermocline depth is up to 15 m. Furthermore, the impact on the zonal current is maximum over the equatorial Indian Ocean (i.e., about 0.12 m/s in May and 0.15 m/s in October; both May and October are the period of Wyrtki jets and the difference in current has potential impact on the seasonal mass transport). The Sverdrup transport has maximum impact in the Bay of Bengal (3 to 4 Sv in August), whereas the Ekman transport has maximum impact in the Arabian Sea (4 Sv during May to July). These highlight the potential impact of accurate momentum forcing on the results from current ocean models.

Music and Emotion-A Case for North Indian Classical Music.

Science.gov (United States)

Valla, Jeffrey M; Alappatt, Jacob A; Mathur, Avantika; Singh, Nandini C

2017-01-01

The ragas of North Indian Classical Music (NICM) have been historically known to elicit emotions. Recently, Mathur et al. (2015) provided empirical support for these historical assumptions, that distinct ragas elicit distinct emotional responses. In this review, we discuss the findings of Mathur et al. (2015) in the context of the structure of NICM. Using, Mathur et al. (2015) as a demonstrative case-in-point, we argue that ragas of NICM can be viewed as uniquely designed stimulus tools for investigating the tonal and rhythmic influences on musical emotion.

Music and Emotion—A Case for North Indian Classical Music

Directory of Open Access Journals (Sweden)

Jeffrey M. Valla

2017-12-01

Full Text Available The ragas of North Indian Classical Music (NICM have been historically known to elicit emotions. Recently, Mathur et al. (2015 provided empirical support for these historical assumptions, that distinct ragas elicit distinct emotional responses. In this review, we discuss the findings of Mathur et al. (2015 in the context of the structure of NICM. Using, Mathur et al. (2015 as a demonstrative case-in-point, we argue that ragas of NICM can be viewed as uniquely designed stimulus tools for investigating the tonal and rhythmic influences on musical emotion.

Assessment of health-promoting behavior and lifestyle of adolescents of a North Indian city

Directory of Open Access Journals (Sweden)

Sonika Raj

2013-01-01

Conclusions: The result of the study showed that North Indian students had reasonably good orientations toward health behaviors, with a mean score of 67.5. The topics related to diet, physical exercise, spiritual growth and philanthropy promotion should be incorporated within the curriculum of students for their all round personality development.

Lung function in North American Indian children: reference standards for spirometry, maximal expiratory flow volume curves, and peak expiratory flow.

Science.gov (United States)

Wall, M A; Olson, D; Bonn, B A; Creelman, T; Buist, A S

1982-02-01

Reference standards of lung function was determined in 176 healthy North American Indian children (94 girls, 82 boys) 7 to 18 yr of age. Spirometry, maximal expiratory flow volume curves, and peak expiratory flow rate were measured using techniques and equipment recommended by the American Thoracic Society. Standing height was found to be an accurate predictor of lung function, and prediction equations for each lung function variable are presented using standing height as the independent variable. Lung volumes and expiratory flow rates in North American Indian children were similar to those previously reported for white and Mexican-American children but were greater than those in black children. In both boys and girls, lung function increased in a curvilinear fashion. Volume-adjusted maximal expiratory flow rates after expiring 50 or 75% of FVC tended to decrease in both sexes as age and height increased. Our maximal expiratory flow volume curve data suggest that as North American Indian children grow, lung volume increases at a slightly faster rate than airway size does.

Remarks on the sea level records of the north Indian ocean

Digital Repository Service at National Institute of Oceanography (India)

Unnikrishnan, A.S.

variability in the tide gauge records along the coasts of the north Indian Ocean A. S. Unnikrishnan National Institute of Oceanography, Dona Paula, Goa, India 403004 e-mail: unni@nio.org Introduction Global sea-level rise has been relatively well... studied by making use of the coastal tide gauge data that are available (Woodworth and Player, 2003) through the Permanent Service for Mean Sea Level (PSMSL). However, studies on regional sea level rise have not gathered momentum, similar to those on a...

Incidental Learning of Melodic Structure of North Indian Music.

Science.gov (United States)

Rohrmeier, Martin; Widdess, Richard

2017-07-01

Musical knowledge is largely implicit. It is acquired without awareness of its complex rules, through interaction with a large number of samples during musical enculturation. Whereas several studies explored implicit learning of mostly abstract and less ecologically valid features of Western music, very little work has been done with respect to ecologically valid stimuli as well as non-Western music. The present study investigated implicit learning of modal melodic features in North Indian classical music in a realistic and ecologically valid way. It employed a cross-grammar design, using melodic materials from two modes (rāgas) that use the same scale. Findings indicated that Western participants unfamiliar with Indian music incidentally learned to identify distinctive features of each mode. Confidence ratings suggest that participants' performance was consistently correlated with confidence, indicating that they became aware of whether they were right in their responses; that is, they possessed explicit judgment knowledge. Altogether our findings show incidental learning in a realistic ecologically valid context during only a very short exposure, they provide evidence that incidental learning constitutes a powerful mechanism that plays a fundamental role in musical acquisition. Copyright © 2016 Cognitive Science Society, Inc.

Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice.

Science.gov (United States)

Li, Xihai; Liang, Wenna; Ye, Hongzhi; Weng, Xiaping; Liu, Fayuan; Lin, Pingdong; Liu, Xianxiang

2015-09-01

The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild‑type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression‑associated congenital dysplasia of the TMJ in mice.

[Heart surgery in Brazilian Indians].

Science.gov (United States)

Gomes, W J; Carvalho, A C; Vieira Filho, J P; Souza, R B; Palma, J H; Maluf, M A; Branco, J N; Buffolo, E

1997-01-01

Our experience with surgical treatment of heart diseases in Indians living in the Amazon rain forest in primitive stages was reviewed. From 1988 to 1995, 18 patients underwent cardiovascular surgical procedures at the São Paulo Hospital of the Escola Paulista de Medicina. Seven patients had valvar disease, nine congenital heart defects, one submitral aneurysm and one arrhythmia. Thirteen Indians came from tribes of the Amazon rain forest area: three from the Xavante, two from Waiapi, two from Tucano, two from Macuxi, two from Mayoruna, and one of each tribe of Xikrin, Guajajara, Terena, Surui, Galibi, Cinta-Larga and Pataxó. We performed 22 operations, with two hospital deaths. Follow-up was possible in 87.5% of cases, with one late death. The majority of cases were due to congenital heart defects and in this series it was noted the absence of operations to treat coronary artery disease. The incidence of valve disease was higher in accultured or semi-accultured Indians. The surgical treatment of cardiovascular disease has made possible to the surviving indians to return to and be accepted by their fellow tribesmen.

Enactments of Discursive Empowerment in Narratives of Medium of Education by North Indian Women

Science.gov (United States)

Sandhu, Priti

2010-01-01

In this study I examine how women in a north Indian city narratively construct their identities in relation to medium of education (MoE)--English only (EME), Hindi only (HME), and a combination of both. I specifically analyze how the participants discursively articulate empowerment or disempowerment while narrating stories connected to their MoEs.…

Indian Ledger Art.

Science.gov (United States)

Chilcoat, George W.

1990-01-01

Offers an innovative way to teach mid-nineteenth century North American Indian history by having students create their own Indian Ledger art. Purposes of the project are: to understand the role played by American Indians, to reveal American Indian stereotypes, and to identify relationships between cultures and environments. Background and…

Hunger and Nutrition Problems among American Indians: A Case Study of North Dakota. Hearing before the Select Committee on Hunger. House of Representatives, One Hundredth Congress, First Session (New Town, North Dakota, July 10, 1987).

Science.gov (United States)

Congress of the U.S., Washington, DC. House Select Committee on Hunger.

This document reports the oral and written testimony of 14 witnesses who discussed general health and nutrition problems among American Indians and focused on the high incidence of diabetes among North Dakota Indians. Diabetes was relatively rare among American Indians before 1940. Nearly one in three members of The Three Affiliated Tribes aged 40…

Association of Circulating Orexin-A Level With Metabolic Risk Factors in North Indian Pre Menopausal Women.

Science.gov (United States)

Gupta, Vani; Mishra, Sameeksha; Kumar, Sandeep; Mishra, Supriya

2015-01-01

The present study was designed to investigate the association between circulating Orexin-A level with metabolic risk factors in North Indian adult women. 342 women were enrolled for the case-control study, 172 women were with metabolic syndrome (mets) and 170 healthy control women were without metabolic syndrome, (womets) according to (NCEP ATP III criteria). Circulating Orexin-A level was determined by enzyme-linked immunosorbent assay. Observations indicated low levels of orexin-A (26.06 ± 6.09 ng/ml) in women with mets and other metabolic risk factors compared to women without metabolic syndrome (36.50 ± 10.42 ng/ml). Further, in women with metabolic syndrome, circulating Orexin A was significantly associated with waist circumference, triglyceride (negative correlation) and hyperdensity lipoprotein (positive correlation). Our study shows that circulating Orexin A was found to be significantly associated with hyperlipidemia, obesity and obesity-related disorders in North Indian premenopausal women.

The average Indian female nose.

Science.gov (United States)

Patil, Surendra B; Kale, Satish M; Jaiswal, Sumeet; Khare, Nishant; Math, Mahantesh

2011-12-01

This study aimed to delineate the anthropometric measurements of the noses of young women of an Indian population and to compare them with the published ideals and average measurements for white women. This anthropometric survey included a volunteer sample of 100 young Indian women ages 18 to 35 years with Indian parents and no history of previous surgery or trauma to the nose. Standardized frontal, lateral, oblique, and basal photographs of the subjects' noses were taken, and 12 standard anthropometric measurements of the nose were determined. The results were compared with published standards for North American white women. In addition, nine nasal indices were calculated and compared with the standards for North American white women. The nose of Indian women differs significantly from the white nose. All the nasal measurements for the Indian women were found to be significantly different from those for North American white women. Seven of the nine nasal indices also differed significantly. Anthropometric analysis suggests differences between the Indian female nose and the North American white nose. Thus, a single aesthetic ideal is inadequate. Noses of Indian women are smaller and wider, with a less projected and rounded tip than the noses of white women. This study established the nasal anthropometric norms for nasal parameters, which will serve as a guide for cosmetic and reconstructive surgery in Indian women.

Insulin secretion and action in North Indian women during pregnancy.

Science.gov (United States)

Arora, G P; Almgren, P; Thaman, R G; Pal, A; Groop, L; Vaag, A; Prasad, R B; Brøns, C

2017-10-01

The relative roles(s) of impaired insulin secretion vs. insulin resistance in the development of gestational diabetes mellitus depend upon multiple risk factors and diagnostic criteria. Here, we explored their relative contribution to gestational diabetes as defined by the WHO 1999 (GDM1999) and adapted WHO 2013 (GDM2013) criteria, excluding the 1-h glucose value, in a high-risk Indian population from Punjab. Insulin secretion (HOMA2-B) and insulin action (HOMA2-IR) were assessed in 4665 Indian women with or without gestational diabetes defined by the GDM1999 or adapted GDM2013 criteria. Gestational diabetes defined using both criteria was associated with decreased insulin secretion compared with pregnant women with normal glucose tolerance. Women with gestational diabetes defined by the adapted GDM2013, but not GDM1999 criteria, were more insulin resistant than pregnant women with normal glucose tolerance, and furthermore displayed lower insulin secretion than GDM1999 women. Urban habitat, illiteracy, high age and low BMI were independently associated with reduced insulin secretion, whereas Sikh religion, increasing age and BMI, as well as a family history of diabetes were independently associated with increased insulin resistance. Gestational diabetes risk factors influence insulin secretion and action in North Indian women in a differential manner. Gestational diabetes classified using the adapted GDM2013 compared with GDM1999 criteria is associated with more severe impairments of insulin secretion and action. © 2017 Diabetes UK.

Cephalometric norms for the upper airway in a healthy North Indian population

Directory of Open Access Journals (Sweden)

Dipti Shastri

2015-01-01

Full Text Available Objective: The aim was to obtain normative data for cephalometric measurements of the upper airway in the North Indian population. Design: Observational study. Setting: University department and teaching hospital out-patient clinic. Subjects and Methods: A total of 180 healthy patients were included out of which 90 were males (age range, 8-16 years, and 90 were females (age range, 8-16 years, with normal skeletal facial profile, no history of snoring, sleep apnea, upper airway disease, tonsillectomy or adenoidectomy, obesity, or pathology in the pharynx. Twenty cephalometric airway measurements, including size of the tongue, soft palate, nasopharynx, oropharynx, hypopharynx, and relative position of the hyoid bone and valleculae were obtained. Landmarks on cephalometric radiographs were digitized and measurements were made using a specially designed computer program. Error analysis of measurements was performed and comparison of measurements according to sex was made. Results: Significant sex dimorphism was seen for the majority of measurements, with the exception of minimal depth of the airway, oropharyngeal depth of the airway, and the soft palate angle with the hard palate. Conclusion: A minimum sagittal dimension of the upper airway was evident despite differences in measurements between sexes. Findings from this study should be a useful reference for the assessment of sleep apnea in the North Indian population.

Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice

Science.gov (United States)

LI, XIHAI; LIANG, WENNA; YE, HONGZHI; WENG, XIAPING; LIU, FAYUAN; LIN, PINGDONG; LIU, XIANXIANG

2015-01-01

The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild-type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression-associated congenital dysplasia of the TMJ in mice. PMID:26096903

On an Ethical Use of Neural Networks: A Case Study on a North Indian Raga

Directory of Open Access Journals (Sweden)

SHUKLA Ripunjai Kumar

2009-12-01

Full Text Available The paper gives an artificial neural network (ANN approach to time series modeling, the data being instance versus notes (characterized by pitch depicting the structure of a North Indian raga, namely, Bageshree. Respecting the sentiments of the artists’ community, the paper argues why it is more ethical to model a structure than try and “manufacture” an artist by training the neural network to copy performances of artists. Indian Classical Music centers on the ragas, where emotion and devotion are both important and neither can be substituted by such “calculated artistry” which the ANN generated copies are ultimately up to.

CHRNE Mutation and Congenital Myasthenia

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2009-01-01

Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

Spatial variability of the structure of the lower troposphere over north western Indian Ocean during 1983 summer monsoon

Digital Repository Service at National Institute of Oceanography (India)

RameshKumar, M.R.; Sadhuram, Y.; Michael, G.S.; Rao, L.V.G.

The spatial variability of the structure of the lower troposphere over the north western Indian Ocean during the period 12th July to 2nd September, 1983 has been studied using the upper air data collected during the first scientific cruise of @i...

An increase level of acylation stimulating protein is correlated with metabolic risk markers in North Indian obese women.

Science.gov (United States)

Mishra, Supriya; Gupta, Vani; Mishra, Sameeksha; Gupta, Vandana; Mahdi, Abbas Ali; Sachan, Rekha

2017-12-01

The present study was to investigate the association between serum acylation stimulating protein (ASP) level with metabolic risk factors in North Indian obese women. This is a case control study, total n=322 women aged between 20 and 45 years (n=162 with metabolic syndrome & n=160 without metabolic syndrome) were recruited for the study according to National Cholesterol Education Program Treatment Panel (NCEPATP) guidelines. Serum ASP level were determined by enzyme linked immunosorbent assay. Results indicated that circulating ASP and other metabolic risk factors (waist circumference, triglycerides, fasting plasma glucose etc) were significantly higher in women with metabolic syndrome (WmetS) than in women without syndrome (WometS) (pwomen with metabolic syndrome. Conclusively circulating ASP was found to be significantly associated with hyperlipidemia, obesity and obesity related disorders in North Indian obese women. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

A multianalytical approach to evaluate the association of 55 SNPs in 28 genes with obesity risk in North Indian adults.

Science.gov (United States)

Srivastava, Apurva; Mittal, Balraj; Prakash, Jai; Srivastava, Pranjal; Srivastava, Nimisha; Srivastava, Neena

2017-03-01

The aim of the study was to investigate the association of 55 SNPs in 28 genes with obesity risk in a North Indian population using a multianalytical approach. Overall, 480 subjects from the North Indian population were studied using strict inclusion/exclusion criteria. SNP Genotyping was carried out by Sequenom Mass ARRAY platform (Sequenom, San Diego, CA) and validated Taqman ® allelic discrimination (Applied Biosystems ® ). Statistical analyses were performed using SPSS software version 19.0, SNPStats, GMDR software (version 6) and GENEMANIA. Logistic regression analysis of 55 SNPs revealed significant associations (P obesity risk whereas the remaining 6 SNPs revealed no association (P > .05). The pathway-wise G-score revealed the significant role (P = .0001) of food intake-energy expenditure pathway genes. In CART analysis, the combined genotypes of FTO rs9939609 and TCF7L2 rs7903146 revealed the highest risk for BMI linked obesity. The analysis of the FTO-IRX3 locus revealed high LD and high order gene-gene interactions for BMI linked obesity. The interaction network of all of the associated genes in the present study generated by GENEMANIA revealed direct and indirect connections. In addition, the analysis with centralized obesity revealed that none of the SNPs except for FTO rs17818902 were significantly associated (P obesity risk in the North Indian population. © 2016 Wiley Periodicals, Inc.

Observed sea-level rise in the north Indian Ocean coasts during the past century

Digital Repository Service at National Institute of Oceanography (India)

Unnikrishnan, A.S.

Content-Type text/plain; charset=UTF-8 91 Observed sea-level rise in the north Indian Ocean coasts during the past century A. S. Unnikrishnan National Institute of Oceanography, Dona Paula, Goa-403004 unni@nio.org Introduction Sea-level... rise is one of the good indicators of global warming. Rise in sea level occurs mainly through melting of glaciers, thermal expansion due to ocean warming and some other processes of relatively smaller magnitudes. Sea level rise is a global...

40 CFR 147.1703 - EPA-administered program-Indian lands.

Science.gov (United States)

2010-07-01

... Carolina § 147.1703 EPA-administered program—Indian lands. (a) Contents. The UIC program for all classes of wells on Indian lands in the State of North Carolina is administered by EPA. This program consists of... these requirements. (b) Effective date. The effective date of the UIC program for Indian lands in North...

"Color Me Healthy." Risk Reduction for Indian Children through Good Nutrition.

Science.gov (United States)

Bode, Frances

Life expectancy among certain American Indian tribes is only 50 years of age as compared with 74.6 years for the general population. Leading causes of death among Indian infants continue to be respiratory, digestive, infective, parasitic disease, and congenital malformations. Child obesity, dental caries, atherosclerosis, iron deficiency anemia,…

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Science.gov (United States)

Malaichamy, Sivasankar; Sen, Parveen; Sachidanandam, Ramya; Arokiasamy, Tharigopala; Lancelot, Marie Elise; Audo, Isabelle; Zeitz, Christina; Soumittra, Nagasamy

2014-01-01

Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait and shows a good genotype-phenotype correlation. Clinically, CSNB is classified as the Riggs type and the Schubert-Bornschein type. The latter form is further sub-classified into complete and incomplete forms based on specific waveforms on the electroretinogram (ERG). There are no molecular genetic data for CSNB in the Indian population. Therefore, we present for the first time molecular profiling of eight families with complete CSNB (cCSNB). The index patients and their other affected family members were comprehensively evaluated for the phenotype, including complete ophthalmic evaluation, ERG, fundus autofluorescence, optical coherence tomography, and color vision test. The known gene defects for cCSNB, LRIT3, TRPM1, GRM6, GPR179, and NYX, were screened by PCR direct sequencing. Bioinformatic analyses were performed using SIFT and PolyPhen for the identified missense mutations. All eight affected index patients and affected family members were identified as having cCSNB based on their ERG waveforms. Mutations in the TRPM1 gene were identified in six index patients. The two remaining index patients each carried a GPR179 and GRM6 mutation. Seven of the patients revealed homozygous mutations, while one patient showed a compound heterozygous mutation. Six of the eight mutations identified are novel. This is the first report on molecular profiling of candidate genes in CSNB in an Indian cohort. As shown for other cohorts, TRPM1 seems to be a major gene defect in patients with cCSNB in India.

Insulin secretion and action in North Indian women during pregnancy

DEFF Research Database (Denmark)

Arora, G P; Almgren, P; Thaman, R G

2017-01-01

. RESULTS: Gestational diabetes defined using both criteria was associated with decreased insulin secretion compared with pregnant women with normal glucose tolerance. Women with gestational diabetes defined by the adapted GDM2013, but not GDM1999 criteria, were more insulin resistant than pregnant women......AIM: The relative roles(s) of impaired insulin secretion vs. insulin resistance in the development of gestational diabetes mellitus depend upon multiple risk factors and diagnostic criteria. Here, we explored their relative contribution to gestational diabetes as defined by the WHO 1999 (GDM1999...... independently associated with increased insulin resistance. CONCLUSIONS: Gestational diabetes risk factors influence insulin secretion and action in North Indian women in a differential manner. Gestational diabetes classified using the adapted GDM2013 compared with GDM1999 criteria is associated with more...

78 FR 62649 - Indian Gaming

Science.gov (United States)

2013-10-22

... DEPARTMENT OF THE INTERIOR Bureau of Indian Affairs [DR.5B711.IA000813] Indian Gaming AGENCY: Bureau of Indian Affairs, Interior. ACTION: Notice of Tribal-State Class III Gaming Compact taking effect. SUMMARY: This notice publishes the Class III Gaming Compact between the North Fork Rancheria of Mono...

Indians of North Carolina.

Science.gov (United States)

Bureau of Indian Affairs (Dept. of Interior), Washington, DC.

Published by the U.S. Department of the Interior, this brief booklet on the historical development of the Cherokee Nation emphasizes the Tribe's relationship with the Bureau of Indian Affairs and its improved economy. Citing tourism as the major tribal industry, tribal enterprises are named and described (a 61 unit motor court in existence since…

What's New in Congenital Scoliosis?

Science.gov (United States)

Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

Human Papillomavirus-mediated cervical cancer awareness and Gardasil vaccination: a pilot survey among North Indian women.

Science.gov (United States)

Pandey, Saumya; Chandravati

2013-10-01

Human Papillomavirus (HPV)-mediated cervical cancer is a leading cause of morbidity and mortality in women worldwide, including Indian women. Cervical cancer control and prevention strategies are being adopted in developing nations to reduce the increasing burden of HPV infection in the vaccine era. The present study, therefore, aimed to evaluate cervical cancer awareness and knowledge of Gardasil vaccination in North Indian women. A pilot survey was conducted among 103 women of North Indian ethnicity residing in Lucknow/adjoining areas in state of Uttar Pradesh, during routine screening/clinic visits from June 2012 to December 2012. The study subjects were interviewed in either Hindi or English; subsequently the awareness of HPV-mediated cervical cancer and knowledge of Gardasil vaccination was assessed in terms of "yes", "no" and "no response". The study was approved by the Institutional Review Board. Written informed consent was taken from the participants. Overall, the response of participants (n = 103) in our single-centre survey-based pilot study was well-defined. The response regarding HPV-mediated cervical cancer awareness in terms of "yes", "no" and "no response" among the study subjects was 43.7, 44.7 and 11.6 %, respectively. Furthermore, in response to knowledge of HPV vaccine Gardasil, out of 103 subjects, 28.1 % answered "yes" while 37.9 and 34.0 % stated "no" and "no response", respectively. Our pilot survey may help in assessing knowledge of HPV-mediated cervical cancer and Gardasil vaccination awareness in women, and accordingly develop cost-effective cervical cancer control and prevention/public health counseling sessions in a clinical setting.

Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature.

Science.gov (United States)

Lata, Jeevan; Verma, Nitin; Kaur, Amandeep

2015-09-01

In Indian scenario, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. The diagnostic findings of Gorlin-Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide. Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested.

Analysis of Tropical Cyclone Tracks in the North Indian Ocean

Science.gov (United States)

Patwardhan, A.; Paliwal, M.; Mohapatra, M.

2011-12-01

Cyclones are regarded as one of the most dangerous meteorological phenomena of the tropical region. The probability of landfall of a tropical cyclone depends on its movement (trajectory). Analysis of trajectories of tropical cyclones could be useful for identifying potentially predictable characteristics. There is long history of analysis of tropical cyclones tracks. A common approach is using different clustering techniques to group the cyclone tracks on the basis of certain characteristics. Various clustering method have been used to study the tropical cyclones in different ocean basins like western North Pacific ocean (Elsner and Liu, 2003; Camargo et al., 2007), North Atlantic Ocean (Elsner, 2003; Gaffney et al. 2007; Nakamura et al., 2009). In this study, tropical cyclone tracks in the North Indian Ocean basin, for the period 1961-2010 have been analyzed and grouped into clusters based on their spatial characteristics. A tropical cyclone trajectory is approximated as an open curve and described by its first two moments. The resulting clusters have different centroid locations and also differently shaped variance ellipses. These track characteristics are then used in the standard clustering algorithms which allow the whole track shape, length, and location to be incorporated into the clustering methodology. The resulting clusters have different genesis locations and trajectory shapes. We have also examined characteristics such as life span, maximum sustained wind speed, landfall, seasonality, many of which are significantly different across the identified clusters. The clustering approach groups cyclones with higher maximum wind speed and longest life span in to one cluster. Another cluster includes short duration cyclonic events that are mostly deep depressions and significant for rainfall over Eastern and Central India. The clustering approach is likely to prove useful for analysis of events of significance with regard to impacts.

The Sky Clears; Poetry of the American Indians.

Science.gov (United States)

Day, A. Grove

More than 200 authentic poems and lyrics of North American Indians are compiled in this anthology. The poetry was translated from tribal languages into English over the past 100 years by students of Indian language, lore, and life. The poems, taken from about 40 North American tribes, include songs of Eskimos of the Arctic coasts, totem-pole…

71th Annual Meeting | Annual Meetings | Events | Indian Academy of ...

Indian Academy of Sciences (India)

D. D. Sarma, Indian Institute of Science, Bengaluru Electronic ... A molecular genetic perspective on primary congenital glaucoma in India ... Joint Statement by the Three Science Academies of India on the teaching of the theory of evolution

Gorlin–Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature

Science.gov (United States)

Lata, Jeevan; Verma, Nitin; Kaur, Amandeep

2015-01-01

Objective: In Indian scenario, Gorlin–Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. Materials and Methods: The diagnostic findings of Gorlin–Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. Results: The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide. Conclusions: Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested. PMID:26604574

Gorlin–Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature

Directory of Open Access Journals (Sweden)

Jeevan Lata

2015-01-01

Full Text Available Objective: In Indian scenario, Gorlin–Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS] has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. Materials and Methods: The diagnostic findings of Gorlin–Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. Results: The most common features seen were keratocystic odontogenic tumors (100%, calcifications of falx cerebri (60%, palmar-plantar pits (80%, rib anomalies (80%, macroencephaly (60%, ocular hypertelorism (80%, and frontal bossing (60% in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide. Conclusions: Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. P. V. Ramchander. Articles written in Journal of Genetics. Volume 88 Issue 3 December 2009 pp 267-272 Research Article. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment · G. Padma P. V. Ramchander U. V. Nandur T. Padma.

Geosat altimeter derived sea surface wind speeds and significant wave heights for the north Indian Ocean and their comparison with in situ data

Digital Repository Service at National Institute of Oceanography (India)

Vethamony, P.; Vaithiyanathan, R.; Almeida, A.M.; Santanam, K.; Rao, L.V.G.; Sarkar, A.; Kumar, R.; Gairola, R.M.; Gohil, B.S.

Geosat altimeter data for the period November 1986-October 1987 over the north Indian Ocean have been processed to retrieve wind speeds and significant wave heights. Smoothed Brown algorithm is used to retrieve wind speeds from back...

The incidence of apparent congenital urogenital anomalies in North ...

African Journals Online (AJOL)

A. Bhat

2016-07-18

Jul 18, 2016 ... borns' birth weight and gestational age, the maternal age, parity and infertility treatment, ... has shown birth prevalence of congenital anomalies to vary sig- ... leading cause of fetal death, as well as of childhood and adult mor- ... Neonates ... dent factors predictive of reproductive disorders, with a p value.

History and Acculturation of the Dakota Indians.

Science.gov (United States)

Satterlee, James L.; Malan, Vernon D.

Relating the history of the Dakota Indians from their origins to the present time, this document also examines the effects of acculturation on these Sioux people. Beginning with the Paleo-Indians of North America, it details the structure of the Dakota culture and attempts to acculturate the Indians into white society. Historical and current…

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. G. Padma. Articles written in Journal of Genetics. Volume 88 Issue 3 December 2009 pp 267-272 Research Article. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment · G. Padma P. V. Ramchander U. V. Nandur T. Padma · More Details ...

Sex determination from hand and foot dimensions in a North Indian population.

Science.gov (United States)

Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

2011-03-01

Hands and feet are often recovered from the site of natural as well as man-made disasters because of bomb blasts, train accidents, plane crashes, or mass homicides. This study is intended to establish standards for determination of sex from the dimensions of hands and feet in a North Indian population. The data for this study comprise 123 men and 123 women aged between 17 and 20 years from the "Rajput" population of Himachal Pradesh in North India. Four anthropometric measurements viz. hand length, hand breadth, foot length, and foot breadth have been taken on both sides of each subject following international anthropometric standards. The hand index (hand breadth/hand length × 100) and the foot index (foot breadth/foot length × 100) were calculated. Sectioning points and regression models are derived for the hand and foot dimensions and the derived indices. The hand and foot dimensions show a higher accuracy in sex determination by sectioning point analysis when compared to hand and foot index. Of the hand and the foot dimensions, hand breadth and foot breadth showed better accuracy in sex determination. Hand index and foot index remain poor sex discriminators in the study. © 2011 American Academy of Forensic Sciences.

Indian Education in the American Colonies, 1607-1783.

Science.gov (United States)

Szasz, Margaret Connell

Indian schooling in colonial America was continuously immersed in the exchange between cultures that involved religion, land ownership, disease, alcohol, and warfare, and was molded by trade in furs and hides, and Indian slaves. In the past two decades American scholars have begun to reinterpret colonial North American Indian history and the…

Sensitivity to musical emotion is influenced by tonal structure in congenital amusia.

Science.gov (United States)

Jiang, Cunmei; Liu, Fang; Wong, Patrick C M

2017-08-08

Emotional communication in music depends on multiple attributes including psychoacoustic features and tonal system information, the latter of which is unique to music. The present study investigated whether congenital amusia, a lifelong disorder of musical processing, impacts sensitivity to musical emotion elicited by timbre and tonal system information. Twenty-six amusics and 26 matched controls made tension judgments on Western (familiar) and Indian (unfamiliar) melodies played on piano and sitar. Like controls, amusics used timbre cues to judge musical tension in Western and Indian melodies. While controls assigned significantly lower tension ratings to Western melodies compared to Indian melodies, thus showing a tonal familiarity effect on tension ratings, amusics provided comparable tension ratings for Western and Indian melodies on both timbres. Furthermore, amusics rated Western melodies as more tense compared to controls, as they relied less on tonality cues than controls in rating tension for Western melodies. The implications of these findings in terms of emotional responses to music are discussed.

Prevalence of dental anomalies in Indian population.

Science.gov (United States)

Patil, Santosh; Doni, Bharati; Kaswan, Sumita; Rahman, Farzan

2013-10-01

Developmental anomalies of the dentition are not infrequently observed by the dental practitioner. The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. A retrospective study of 4133 panoramic radiographs of patients, who attended the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 was done. The ages of the patients ranged from 13 to 38 years with a mean age of 21.8 years. The orthopantomographs (OPGs) and dental records were examined for any unusual finding such as congenitally missing teeth, impactions, ectopic eruption, supernumerary teeth, odontoma, dilacerations, taurodontism, dens in dente, germination and fusion, among others. 1519 (36.7%) patients had at least one dental anomaly. The congenitally missing teeth 673 (16.3%) had the highest prevalence, followed by impacted teeth 641 (15.5%), supernumerary teeth 51 (1.2%) and microdontia 41 (1.0%). Other anomalies were found at lower prevalence ranging from transposition 7 (0.1%) to ectopic eruption 30 (0.7%). The most prevalent anomaly in the Indian population was congenitally missing teeth (16.3%), and the second frequent anomaly was impacted teeth (15.5%), whereas, macrodontia, odontoma and transposition were the least frequent anomalies, with a prevalence of 0.2%, 0.2% and 0.1% respectively. While the overall prevalence of these anomalies may be low, the early diagnosis is imperative for the patient management and treatment planning. Key words:Dental anomaly, prevalence, panoramic radiography.

Oxygen isotope records of Globigerina bulloides across a north-south transect in the south-western Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Khare, N.; Chaturvedi, S.K.; Saraswat, R

, Washington, D.C). Lutjeharms, J.R.E., N.M. Walters and B.R. Allanson. 1985. Oceanic frontal systems and biologicalenhancement. p.11-21. In: Antarctic Nutrient Cycles and Food Webs. ed. by W.R. Siegfried et al., Springer-Verlag, NewYork. Matsumoto, K., J...: Ocean Sci. J.: 44(2); 2009; 117-123 OXYGEN ISOTOPE RECORDS OF GLOBIGERINA BULLOIDES ACROSS A NORTH-SOUTH TRANSECT IN THE SOUTH-WESTERN INDIAN OCEAN N. Khare 1* , S. K. Chaturvedi 2 and R. Saraswat 3 1. Ministry of Earth Sciences, Block...

American Indian Studies. Library Research Guide.

Science.gov (United States)

White, Phillip M.

This guide to sources for students at San Diego State University doing library research in topics related to American Indian Studies begins by noting that information on North American Indians can be found in a variety of subject disciplines including history, anthropology, education, sociology, health care, law, business, and politics. The…

Association between methylenetetrahydrofolate reductase (MTHFR C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case–control study

Directory of Open Access Journals (Sweden)

Amit Kumar

2016-10-01

Conclusion: Findings of the present study suggest that MTHFR C677T gene polymorphism might be a risk factor of IS mainly for SVD subtypes of IS in North Indian population. Further large prospective studies are required to confirm these findings.

Facial soft tissue thickness in North Indian adult population

Directory of Open Access Journals (Sweden)

Tanushri Saxena

2012-01-01

Full Text Available Objectives: Forensic facial reconstruction is an attempt to reproduce a likeness of facial features of an individual, based on characteristics of the skull, for the purpose of individual identification - The aim of this study was to determine the soft tissue thickness values of individuals of Bareilly population, Uttar Pradesh, India and to evaluate whether these values can help in forensic identification. Study design: A total of 40 individuals (19 males, 21 females were evaluated using spiral computed tomographic (CT scan with 2 mm slice thickness in axial sections and soft tissue thicknesses were measured at seven midfacial anthropological facial landmarks. Results: It was found that facial soft tissue thickness values decreased with age. Soft tissue thickness values were less in females than in males, except at ramus region. Comparing the left and right values in individuals it was found to be not significant. Conclusion: Soft tissue thickness values are an important factor in facial reconstruction and also help in forensic identification of an individual. CT scan gives a good representation of these values and hence is considered an important tool in facial reconstruction- This study has been conducted in North Indian population and further studies with larger sample size can surely add to the data regarding soft tissue thicknesses.

Indian monsoon variability on millennial-orbital timescales.

Science.gov (United States)

Kathayat, Gayatri; Cheng, Hai; Sinha, Ashish; Spötl, Christoph; Edwards, R Lawrence; Zhang, Haiwei; Li, Xianglei; Yi, Liang; Ning, Youfeng; Cai, Yanjun; Lui, Weiguo Lui; Breitenbach, Sebastian F M

2016-04-13

The Indian summer monsoon (ISM) monsoon is critical to billions of people living in the region. Yet, significant debates remain on primary ISM drivers on millennial-orbital timescales. Here, we use speleothem oxygen isotope (δ(18)O) data from Bittoo cave, Northern India to reconstruct ISM variability over the past 280,000 years. We find strong coherence between North Indian and Chinese speleothem δ(18)O records from the East Asian monsoon domain, suggesting that both Asian monsoon subsystems exhibit a coupled response to changes in Northern Hemisphere summer insolation (NHSI) without significant temporal lags, supporting the view that the tropical-subtropical monsoon variability is driven directly by precession-induced changes in NHSI. Comparisons of the North Indian record with both Antarctic ice core and sea-surface temperature records from the southern Indian Ocean over the last glacial period do not suggest a dominant role of Southern Hemisphere climate processes in regulating the ISM variability on millennial-orbital timescales.

Correlations between the North China Craton and the Indian Shield: Constraints from regional metallogeny

Directory of Open Access Journals (Sweden)

Caifeng Li

2015-11-01

Full Text Available The correlation between the North China Craton (NCC and the Indian Shield (IND has been a hot topic in recent years. On the basis of ore deposit databases, the NCC and IND have shown broad similarity in metallogenesis from the middle Archaean to the Mesoproterozoic. The two blocks both have three major metallogenic systems: (1 the Archaean BIF metallogenic system; (2 the Paleoproterozoic Cu-Pb-Zn metallogenic system; and (3 the Mesoproterozoic Fe-Pb-Zn system. In the north margin of the NCC and the west margin of the IND, the Archaean BIF-Au-Cu-Pb-Zn deposits had the same petrogenesis and host rocks, the Paleoproterozoic Cu-Pb-Zn deposits were controlled by active belts, and the Mesoproterozoic Fe-Pb-Zn deposits were mainly related to multi-stage rifting. Matching regional mineralization patterns and geological features has established the continental assembly referred to as “NCWI”, an acronym for the north margin of the NCC (NC and the west margin of the IND (WI during the middle Archaean to the Mesoproterozoic. In this assembly, the available geological and metallogenic data from the Eastern Block and active belts of NC fit those from the Dharwar craton and the Aravalli–Delhi–Vindhyan belt of WI, respectively. Moreover, the depositional model and environment of Paleoproterozoic metasedimentary manganese deposits in NCWI implied that the assembly may be located at low latitudes, where the conditions were favorable for dissolving ice and precipitating manganese deposits.

Clinical Spectrum, Risk Factors, and Behavioral Abnormalities among Dementia Subtypes in a North Indian Population: A Hospital-Based Study

Directory of Open Access Journals (Sweden)

Suman Kushwaha

2017-07-01

Full Text Available Background: As variability in the clinical profile of dementia subtypes had been reported with regional differences across the world, we conducted a retrospective hospital-based study in a North Indian population. Methods: We retrieved patient records from 2007 to 2014 for details of clinical evaluation, diagnosis, neuroimaging, biochemical investigations, and follow-up of 1,876 patients with dementia (PwD, and the data were analyzed using descriptive statistics. Results: Of the total PwD, Alzheimer disease (AD accounted for 30% followed by vascular dementia (VaD 26%, mixed dementia (MD 21%, Parkinson-related dementia 11%, frontotemporal dementia (FTD 7%, and infective dementia 5%. Of all PwD excluding the infective group (n = 1,777, 63% were men, 39% were from rural areas, 87% had behavioral abnormalities along with cognitive deficits, and 73% had impaired ADLs. Among dementia subtypes, a positive family history, cardiovascular and metabolic risk factors, and behavioral abnormalities were found to be distributed. However, there existed a predominance of specific behavioral pattern in each subtype. The mean duration of follow-up varied from 2.9 ± 2.3 (VaD to 3.6 ± 2.1 (AD and greater than 30% were found to be stable on treatment (except in dementia with Lewy body. Conclusions: This large hospital-based study provides a distribution pattern and clinical spectrum of dementia subtypes in a North Indian population.

Correlation of chronological, skeletal, and dental age in North Indian population

Directory of Open Access Journals (Sweden)

Madhurima Nanda

2017-01-01

Full Text Available Aim and Objectives: The aim of the study was to find out the correlation between chronological, dental, and skeletal age. Materials and Methods: Lateral cephalograms and orthopantomograms of 100 subjects of age ranging 9–14 years were obtained for the estimation of skeletal and dental age. Dental age was assessed using Demirjian's method; skeletal age was assessed using the new improved version of the cervical vertebral maturation method given by Baccetti, Franchi, and McNamara. Statistical analysis was carried out. Student's t-test and Spearman's coefficient correlation were used to assess the relation between chronological, skeletal, and dental age. Results: The Spearman's correlation coefficient was 0.777 (P < 0.001 between chronological and dental age, 0.516 (P < 0.001 between chronological and skeletal age, and 0.563 (P < 0.001 between dental and skeletal age. Conclusion: There is a good correlation between chronological and dental age in North Indian population which was higher for males as compared to females. A moderate correlation was found between chronological and skeletal age as well as between dental and skeletal age.

Diarrhea, stimulation and growth predict neurodevelopment in young North Indian children.

Science.gov (United States)

Kvestad, Ingrid; Taneja, Sunita; Hysing, Mari; Kumar, Tivendra; Bhandari, Nita; Strand, Tor A

2015-01-01

Infants and young children in low to middle-income countries are at risk for adverse neurodevelopment due to multiple risk factors. In this study, we sought to identify stimulation and learning opportunities, growth, and burden of respiratory infections and diarrhea as predictors for neurodevelopment. We visited 422 North Indian children 6 to 30 months old weekly for six months. Childhood illnesses were assessed biweekly. At end study, we assessed neurodevelopment using the Ages and Stages Questionnaire 3rd ed. (ASQ-3) and gathered information on stimulation and learning opportunities. We identified predictors for ASQ-3 scores in multiple linear and logistic regression models. We were able to explain 30.5% of the variation in the total ASQ-3 score by the identified predictors. When adjusting for child characteristics and annual family income, stimulation and learning opportunities explained most of the variation by 25.1%. Height for age (standardized beta: 0.12, pimportance of early child stimulation and general nutrition for child development. Our study also suggests that diarrhea is an additional risk factor for adverse neurodevelopment in vulnerable children.

Intergenerational relations and elder care preferences of Asian Indians in North Carolina.

Science.gov (United States)

Sudha, S

2014-03-01

The US older population is growing in ethnic diversity. Persistent ethnic disparities in service use among seniors are linked to structural barriers to access, and also to family processes such as cultural preferences and intergenerational relations. There is sparse information on the latter issue for immigrant ethnic minority seniors. Information on the Asian group (the fastest growing senior sub-population) is extremely scarce, due to this group's diversity in national, linguistic, and cultural origins. We conducted a qualitative study among community-dwelling Asian Indian families (including at least one member aged 60 years and older) in North Carolina to examine preferences of seniors and the midlife generation regarding elder care, and the role of intergenerational relations in desired care for elders, exploring the theoretical perspective of intergenerational relationship ambivalence. Our results suggest that cultural preferences, ambivalence in intergenerational relations, and regulations on health service eligibility among immigrant/transnational seniors and midlife adults influence preferences for elder care.

Sensitivity to musical emotion is influenced by tonal structure in congenital amusia

OpenAIRE

Jiang, Cunmei; Liu, Fang; Wong, Patrick C. M.

2017-01-01

Emotional communication in music depends on multiple attributes including psychoacoustic features and tonal system information, the latter of which is unique to music. The present study investigated whether congenital amusia, a lifelong disorder of musical processing, impacts sensitivity to musical emotion elicited by timbre and tonal system information. Twenty-six amusics and 26 matched controls made tension judgments on Western (familiar) and Indian (unfamiliar) melodies played on piano and...

Pulmonary Function Tests In Young Healthy Subjects Of North India

Directory of Open Access Journals (Sweden)

Parag Rastogi

2004-06-01

Full Text Available Study Objectives : The diagnosis of disease done by skiagram can be substantiated by pulmonary function tests. Substantial data of Indians on PFTs is not available. The present study therefore has been planned on young healthy north Indians.Setting : 119 males and 49 female medical students of North India.Measurements : PFT's, T.V. FEV1, FVC, FER and PEFR were measured. P<0.05 was considered as significant.Results : In North Indian males, mean T. V was 437.56 ± 65.83 ml, FEV1 3.26 ±041 L, FVC 3.82 ± 0.48 L, FER 85.09 ± 2.42% and PEFR was 495.42 ± 101.82 L / min. In North Indian females, average T. V was 386.12 ± 37.90 ml, FEV1 2.39 ± 0.38 L, FVC 2.79 ± 0.43 L, FER 85.38 ± 257% and PEFR was 307.12 ± 75.74 L / min.Conclusions: Males in comparison to females had more value of PFTs. All the PFTs showed positive correlation with Height, Weight and Surface area except Tidal Volume and FER.

Giving Voice: A Course on American Indian Women.

Science.gov (United States)

Krouse, Susan Applegate

1997-01-01

Presents the story of the creation of an undergraduate course on the traditional and contemporary roles of women in North American Indian cultures. Notes that the course was designed around experiential learning precepts and the idea of "giving voice" to American Indian women. Lists texts used and evaluates course strengths. (DSK)

One hundred years of instrumental phonetic fieldwork on North America Indian languages

Science.gov (United States)

McDonough, Joyce

2005-04-01

A resurgence of interest in phonetic fieldwork on generally morphologically complex North American Indian languages over the last 15 years is a continuation of a tradition started a century ago with the Earle Pliny Goddard, who collected kymographic and palatographic field-data between 1906-1927 on several Athabaskan languages: Coastal Athabaskan (Hupa and Kato), Apachean (Mescalero, Jicarilla, White Mountain, San Juan Carlos Apache), and several Athabaskan languages in Northern Canada (Cold Lake and Beaver); data that remains important for its record of segmental timing profiles and rare articulatory documentation in then largely monolingual communities. This data in combination with new work has resulted in the emergence of a body of knowledge of these typologically distinct families that often challenge notions of phonetic universality and typology. Using the Athabaskan languages as benchmark example and starting with Goddard's work, two types of emergent typological patterns will be discussed; the persistence of fine-grained timing and duration details across the widely dispersed family, and the broad variation in prosodic types that exists, both of which are unaccounted for by phonetic or phonological theories.

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Earth System Science; Volume 118; Issue 5 ... Impact of vegetation on the simulation of seasonal monsoon rainfall over the Indian .... On the diurnal ranges of Sea Surface Temperature (SST) in the north Indian Ocean ... Groundwater flow modelling of Yamuna–Krishni interstream, a part of central ...

American Indian Studies. Library Research Guide. 2nd Edition.

Science.gov (United States)

White, Phillip M.

This guide to sources for San Diego (California) State University students doing library research on topics related to American Indian Studies begins by noting that information on North American Indians can be found in a variety of subject disciplines including history, anthropology, education, sociology, health care, law, business, and politics.…

Population and genomic lessons from genetic analysis of two Indian populations.

Science.gov (United States)

Juyal, Garima; Mondal, Mayukh; Luisi, Pierre; Laayouni, Hafid; Sood, Ajit; Midha, Vandana; Heutink, Peter; Bertranpetit, Jaume; Thelma, B K; Casals, Ferran

2014-10-01

Indian demographic history includes special features such as founder effects, interpopulation segregation, complex social structure with a caste system and elevated frequency of consanguineous marriages. It also presents a higher frequency for some rare mendelian disorders and in the last two decades increased prevalence of some complex disorders. Despite the fact that India represents about one-sixth of the human population, deep genetic studies from this terrain have been scarce. In this study, we analyzed high-density genotyping and whole-exome sequencing data of a North and a South Indian population. Indian populations show higher differentiation levels than those reported between populations of other continents. In this work, we have analyzed its consequences, by specifically assessing the transferability of genetic markers from or to Indian populations. We show that there is limited genetic marker portability from available genetic resources such as HapMap or the 1,000 Genomes Project to Indian populations, which also present an excess of private rare variants. Conversely, tagSNPs show a high level of portability between the two Indian populations, in contrast to the common belief that North and South Indian populations are genetically very different. By estimating kinship from mates and consanguinity in our data from trios, we also describe different patterns of assortative mating and inbreeding in the two populations, in agreement with distinct mating preferences and social structures. In addition, this analysis has allowed us to describe genomic regions under recent adaptive selection, indicating differential adaptive histories for North and South Indian populations. Our findings highlight the importance of considering demography for design and analysis of genetic studies, as well as the need for extending human genetic variation catalogs to new populations and particularly to those with particular demographic histories.

High risk association of IL-4 VNTR polymorphism with asthma in a North Indian population.

Science.gov (United States)

Birbian, Niti; Singh, Jagtar; Jindal, Surinder Kumar; Sobti, Ranbir Chander

2014-03-01

A case-control study was conducted to evaluate the role of IL-4 VNTR polymorphism in asthma that has been associated with various inflammatory diseases worldwide. This is the first case-control study conducted in India, investigating the role of IL-4 VNTR polymorphism in asthma pathogenesis. A case-control study was performed with a total of 824 adult subjects, inducting 410 asthma patients and 414 healthy controls from North India. The genotypes were identified by polymerase chain reaction. Statistical analysis for the IL-4 VNTR polymorphism revealed that the Rp1 allele was significantly associated with asthma with OR=1.47, 95% CI (1.11-1.94) and p=0.005. The Rp1/Rp1 homozygous mutant genotype posed a high risk towards asthma with OR=2.39, 95% CI (0.96-6.14) and p=0.040. The Rp2/Rp1 heterozygous genotype also posed a risk towards asthma with OR=1.39, 95% CI (1.00-1.94) and p=0.040. Most of the phenotypic traits were significantly associated with the disease. IL-4 VNTR polymorphism is a high risk factor for asthma in the studied North Indian population. Copyright © 2014 Elsevier Ltd. All rights reserved.

Prevalence and risk factors of gestational diabetes in Punjab, North India

DEFF Research Database (Denmark)

Arora, Geeti P; Thaman, Richa G; Prasad, Rashmi B

2015-01-01

of GDM comparing the previous WHO 1999 criteria to the WHO 2013 criteria in North India. METHODS: In a population-based screening programme, 5100 randomly selected North Indian women were studied using a cross-sectional design with a questionnaire, venous FPG and 2-h capillary plasma glucose (PG) after...... criteria, whereas only urban habitat, low adult height and increased age were independent risk factors of GDM using the 2013 criteria. CONCLUSIONS: Intervention studies are needed to justify the WHO 2013 GDM criteria increasing the prevalence four fold to include more than one third of North Indian...... pregnant women....

Genetic affinities of north and northeastern populations of India: inference from HLA-based study.

Science.gov (United States)

Agrawal, S; Srivastava, S K; Borkar, M; Chaudhuri, T K

2008-08-01

India is like a microcosm of the world in terms of its diversity; religion, climate and ethnicity which leads to genetic variations in the populations. As a highly polymorphic marker, the human leukocyte antigen (HLA) system plays an important role in the genetic differentiation studies. To assess the genetic diversity of HLA class II loci, we studied a total of 1336 individuals from north India using DNA-based techniques. The study included four endogamous castes (Kayastha, Mathurs, Rastogies and Vaishyas), two inbreeding Muslim populations (Shias and Sunnis) from north India and three northeast Indian populations (Lachung, Mech and Rajbanshi). A total of 36 alleles were observed at DRB1 locus in both Hindu castes and Muslims from north, while 21 alleles were seen in northeast Indians. At the DQA1 locus, the number of alleles ranged from 11 to 17 in the studied populations. The total number of alleles at DQB1 was 19, 12 and 20 in the studied castes, Muslims and northeastern populations, respectively. The most frequent haplotypes observed in all the studied populations were DRB1*0701-DQA1*0201-DQB1*0201 and DRB1*1501-DQA1*0103-DQB1*0601. Upon comparing our results with other world populations, we observed the presence of Caucasoid element in north Indian population. However, differential admixturing among Sunnis and Shias with the other north Indians was evident. Northeastern populations showed genetic affinity with Mongoloids from southeast Asia. When genetic distances were calculated, we found the north Indians and northeastern populations to be markedly unrelated.

75 FR 55824 - Land Acquisitions; Nisqually Indian Tribe

Science.gov (United States)

2010-09-14

... INFORMATION CONTACT: Ben Burshia, Bureau of Indian Affairs, Chief, Division of Real Estate Services, MS-4639... 18 North, Range 1 East, Willamette Meridian, lying northerly of the north right-of-way line of Yelm Highway SE and southwesterly of the southwest right-of-way line of Olympia-Yelm Road being State Highway...

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

Validation of a modified Hindi version of the Epworth Sleepiness Scale among a North Indian population

Directory of Open Access Journals (Sweden)

Geetika Bajpai

2016-01-01

Full Text Available Background: Since a majority of population in India does not drive automobiles, one item on the Epworth Sleepiness Scale (ESS requires modification and validation. In addition, data collected by us indicated that a majority of rural and urban Indians regularly spend time in prayer/spiritual activity. The main purpose of this study was to develop a cross-cultural adaptation of the ESS for a North Indian population, in Hindi language (ESS-I. The study also provides evidence of reliability and validity of the modified version. Methodology: The subjects included were normal volunteers aged 18-75 years (Group 1 (n = 70, compared with patients with complaints of excessive daytime sleepiness, who had undergone polysomnography (Group 2 (n = 22 and patients who had undergone multiple sleep latency test (Group 3 (n = 10. The study was carried out in four phases: Translation and retranslation of the original scale with modification of item 8 (mainly addition of option of question on "while offering prayers or in spiritual activity"; reliability (test-retest (n = 30; internal consistency (using Cronbach′s alpha index (n = 102; and sensitivity to change (n = 8. Results: Group 1 showed spiritual activity as a significantly more commonly practiced activity than driving. The Cronbach′s alpha for the modified version was 0.892 (excellent, and this was not improved by removing the modified item. The alpha value for Group 1 versus Groups 2 and 3 was 0.667 and 0.892, respectively. The scale was reliable over time (test-retest, and it was sensitive to sleepiness change in patients with obstructive sleep apnea during treatment. Conclusion: The ESS-I, is comparable to the original scale. It is reliable, valid, and change-sensitive. It is proposed that the modified version can be very useful for detecting sleepiness among Indian population, especially those who do not drive their own vehicles.

Time Series Observations in the North Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Shenoy, D.M.; Naik, H.; Kurian, S.; Naqvi, S.W.A.; Khare, N.

Ocean and the ongoing time series study (Candolim Time Series; CaTS) off Goa. In addition, this article also focuses on the new time series initiative in the Arabian Sea and the Bay of Bengal under Sustained Indian Ocean Biogeochemistry and Ecosystem...

Knife River Indian Villages National Historic Site: Teacher's Guide.

Science.gov (United States)

National Park Service (Dept. of Interior), Washington, DC. National Register of Historic Places.

This guide provides history and social studies teachers, at all grade levels, with information and activities about the American Indians of the Northern Plains who lived in the area of the Knife River where it enters the Missouri River. Located in what is now North Dakota, this area is the Knife River Indian Villages National Historic Site. The…

"The Bewitching Tyranny of Custom": The Social Costs of Indian Drinking in Colonial America.

Science.gov (United States)

Mancall, Peter C.

1993-01-01

Colonial accounts depict how the alcohol trade destabilized Indian communities in colonial British America during the seventeenth and eighteenth centuries. Despite the social costs of alcohol use within Indian communities, liquor remained a staple of Indian-colonist trade, perhaps because it facilitated the conquest of eastern North America. (LP)

The incidence of isolated penile torsion in North India: A study of 5,018 male neonates.

Science.gov (United States)

Bhat, Amilal; Bhat, Mahakshit; Kumar, Vinay; Goyal, Suresh; Bhat, Akshita; Patni, Madhu

2017-10-01

Congenital penile torsion is a three-dimensional deformity with helical rotation of the distal corporal bodies with the penile crurae remaining fixed to the pubic rami. The first case of congenital penile torsion (hypospadias) was described in 1857. Isolated penile torsion is an under-reported anomaly. The reported incidence of isolated penile torsion is 1.7-27% and severe torsion is 0.7%. There are no studies available from Indian subcontinent on the incidence of isolated penile torque. The objective of this study was to determine the overall incidence of isolated penile torque in a north Indian population. A prospective study of deliveries of male children was conducted at our institute between April 2014 and June 2015. Penile torsion was measured using a small protractor either by the deviation of the median raphae or the direction of the meatus. Data were collected on the incidence of congenital isolated penile torsion, including the degree and direction (left or right) of torsion. Torsion was classified as mild (900). Statistical analysis was done using the chi-square test with variables of age and parity of the mother and weight of the child. There were 99 cases of isolated penile torque among 5018 male neonates assessed for penile torque. The incidence of isolated penile torque was 19.7 per 1000 births. The degree of torsion varied from 30 to 110° (average 51.46°). Seventy-nine percent (79%) of them had left side and 21% had right side torque (4:1). The degree of torsion was mild in 30%, with 20% having left side torque and 10% having right side torque (2:1). A moderate degree of torsion was seen in 69%: 84% of them had left torque and only 16% had right sided torque (5:1). Only one patient had severe left torque. The incidence of isolated congenital penile torsion was highest in the maternal age group of >30 years followed by the 26-30-year age group, and was lowest in 21-25 year age group. In multiparous women, the incidence of isolated congenital penile

Post partum lymphocytic thyroiditis in North Indian population: a spectrum of thyroid dysfunction

International Nuclear Information System (INIS)

Sharma, Rajnish; Mondal, Anupam; Taneja, Vijay; Bansal, J.K.; Khanna, C.M.; Sharma, Manisha

1999-01-01

Two hundred and sixty one Indian women from Delhi and surrounding territory were prospectively evaluated to determine the frequency of post-partum thyroiditis upto 12 weeks of postpartum. Thirty one (11.8%) of the 261 cases included in our study developed thyroid disease. Twenty four (77%) of the patients who developed thyroiditis were found to have high titres of thyroid antibodies. Of these 24 patients, 21 (67.7%) tested positive for antimicrosomal antibodies and 17 (54.8%) tested positive for antithyroglobulin antibodies. Patients were found to have a spectrum of thyroid dysfunction. Transient hypothyroidism developed in 17 patients, I patient developed persistent hypothyroidism, 7 had transient thyrotoxicosis and 6 developed euthyroid goiters. Twenty two patients had goiters ranging from grade OB to grade II. Fine needle aspiration cytology showed chronic lymphocytic thyroiditis in 20 patients, while 2 had colloid goiter. It is concluded from our study that there is a significant incidence of post partum thyroid disease in the female population representative of North India, and most of the patients (93.5%) develop transient thyroid disorder. (author)

Genetic association of pro-inflammatory cytokine gene polymorphisms with coronary artery disease (CAD) in a North Indian population.

Science.gov (United States)

Mastana, Sarabjit; Prakash, Swayam; Akam, Elizabeth C; Kirby, Melissa; Lindley, Martin R; Sinha, Nakul; Agrawal, Suraksha

2017-09-10

Cytokines regulate the expression of inflammatory molecules which destabilize the atheromatic plaques. This study focuses on studying the association of inflammatory cytokine polymorphisms like TNF-α -308 (G/A), TNF-β +252 (A/G), IL-6 -174 (G/C) and IL-6 -597 (G/A), and IFN-ɣ +874 (T/A) with coronary artery disease (CAD) among north Indian patients. 143 CAD and 137 normal healthy controls were recruited in this study. DNA extraction was carried out by high salting out method. TNF-α -308 (G/A) (rs1800797), TNF-β +252 (A/G) (rs909253), IL-6 -174 (G/C) (rs1800795), IL6 -597 (G/A) (rs1800797), and IFN-ɣ +874 (T/A) (rs2430561) SNPs were genotyped by TaqMan®SNP genotyping assays. Different statistical analyses were performed using SPSS v 22.0 and SNPStats. p≤0.05 was considered significant. Significant risk association with CAD was found for TNF-α -308 (G/A) "A" allele (OR=5.6, CI 1.8-17.4, p=0.001) and TNF-β +252 (A/G) "G" allele (OR=3.4, CI=1.9-6.0, pCAD. TNF-α -308 (G/A), and TNF-β +252 (A/G) haplotype "GG" "AG" increased CAD risk significantly (GG haplotype, adjusted OR=2.6, CI 1.4-5.0, p=0.003 and AG haplotype OR=8.5, CI 2.2-33.35, p=0.002) after adjustments for age, sex, TC, TG, HDL, APOB, smoking and diet. The present study found significant risk association for TNF-α -308 (G/A), and TNF-β +252 (A/G) genotypes, alleles and haplotypes, with CAD in a North Indian population. Copyright © 2017 Elsevier B.V. All rights reserved.

Sea-level-rise trends off the Indian coasts during the last two decades

Digital Repository Service at National Institute of Oceanography (India)

Unnikrishnan, A.S.; Nidheesh, A.G.; Lengaigne, M.

The present communication discusses sea-level-rise trends in the north Indian Ocean, particularly off the Indian coasts, based on estimates derived from satellite altimeter and tide-gauge data. Altimeter data analysis over the 1993–2012 period...

Hydrological and chlorofluoromethane measurements of the Indonesian throughflow entering the Indian Ocean

Science.gov (United States)

Fieux, M.; Andrié, C.; Charriaud, E.; Ilahude, A. G.; Metzl, N.; Molcard, R.; Swallow, J. C.

1996-05-01

The Java Australia Dynamic Experiment high-resolution February-March 1992 conductivity-temperature-depth and chlorofluoromethane section obtained between Australia and Bali and on the sills between Flores, Sumba, Sawu, Roti, and the Australian continental shelf allows detailed examination of the water masses distribution and their inferred circulation. A sharp hydrological front between the Indonesian waters and the southern Indian Ocean waters is found between 13°S and 14°S in both seasons (February-March 1992 and August 1989). It separates the high-salinity surface waters to the south from the lower-salinity surface waters derived from the Indonesian Seas to the north. It reaches the surface in February 1992, whereas it was capped by a particularly low salinity surface layer in August 1989. Near Bali, the NW monsoon of February-March produces large intrusions of low-salinity water from the Java Sea, through Lombok Strait in the upper 100 m. At depth, the North Indian Intermediate Water, flowing along the Indonesian coast, brings salty, low-oxygen and low-chlorofluorocarbon water. It enters the Sawu Sea through Sumba Strait toward the east, while it undergoes strong mixing with the Indonesian Seas water. The primary pathway of the Indonesian waters is found north of the front and south of the North Indian Intermediate Water, between 13°S and 9°30'S, and the associated salinity minimum can be followed all across the Indian Ocean.

Prevalence and treatment gap in childhood epilepsy in a north Indian city: a community-based study.

Science.gov (United States)

Pandey, Swati; Singhi, Pratibha; Bharti, Bhavneet

2014-04-01

Epilepsy is one of the most common neurological disorders prevalent in childhood period. There is scarcity of epidemiological data, required to plan services in resource constrained developing nations. To study the prevalence and treatment gap in childhood epilepsy in north Indian city, in the age group of 1-18 years. A two stage stratified cluster sampling; probability proportionate to size (PPS) was employed. A ten question screening questionnaire was employed to identify the presence of epilepsy. Definitions provided by International League against Epilepsy (ILAE) were used to classify screen positive subjects as epilepsy and to calculate the treatment gap. The prevalence rate for epilepsy was 6.24/1000 population. Febrile seizures and neurocysticercosis were most common causes of symptomatic seizures in childhood. This study of epidemiology of epilepsy provides valuable aid in optimizing effective community approach, thereby improving outcomes of childhood epilepsy.

Diarrhea, stimulation and growth predict neurodevelopment in young North Indian children.

Directory of Open Access Journals (Sweden)

Ingrid Kvestad

Full Text Available Infants and young children in low to middle-income countries are at risk for adverse neurodevelopment due to multiple risk factors. In this study, we sought to identify stimulation and learning opportunities, growth, and burden of respiratory infections and diarrhea as predictors for neurodevelopment.We visited 422 North Indian children 6 to 30 months old weekly for six months. Childhood illnesses were assessed biweekly. At end study, we assessed neurodevelopment using the Ages and Stages Questionnaire 3rd ed. (ASQ-3 and gathered information on stimulation and learning opportunities. We identified predictors for ASQ-3 scores in multiple linear and logistic regression models.We were able to explain 30.5% of the variation in the total ASQ-3 score by the identified predictors. When adjusting for child characteristics and annual family income, stimulation and learning opportunities explained most of the variation by 25.1%. Height for age (standardized beta: 0.12, p<.05 and weight for height z-scores (std. beta: 0.09, p<.05 were positively associated with the total ASQ-3 score, while number of days with diarrhea was negatively associated with these scores (std. beta: -0.13, p<0.01.Our results support the importance of early child stimulation and general nutrition for child development. Our study also suggests that diarrhea is an additional risk factor for adverse neurodevelopment in vulnerable children.

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Science.gov (United States)

Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

1995-01-01

Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

Indian Ocean and Indian summer monsoon: relationships without ENSO in ocean-atmosphere coupled simulations

Science.gov (United States)

Crétat, Julien; Terray, Pascal; Masson, Sébastien; Sooraj, K. P.; Roxy, Mathew Koll

2017-08-01

The relationship between the Indian Ocean and the Indian summer monsoon (ISM) and their respective influence over the Indo-Western North Pacific (WNP) region are examined in the absence of El Niño Southern Oscillation (ENSO) in two partially decoupled global experiments. ENSO is removed by nudging the tropical Pacific simulated sea surface temperature (SST) toward SST climatology from either observations or a fully coupled control run. The control reasonably captures the observed relationships between ENSO, ISM and the Indian Ocean Dipole (IOD). Despite weaker amplitude, IODs do exist in the absence of ENSO and are triggered by a boreal spring ocean-atmosphere coupled mode over the South-East Indian Ocean similar to that found in the presence of ENSO. These pure IODs significantly affect the tropical Indian Ocean throughout boreal summer, inducing a significant modulation of both the local Walker and Hadley cells. This meridional circulation is masked in the presence of ENSO. However, these pure IODs do not significantly influence the Indian subcontinent rainfall despite overestimated SST variability in the eastern equatorial Indian Ocean compared to observations. On the other hand, they promote a late summer cross-equatorial quadrupole rainfall pattern linking the tropical Indian Ocean with the WNP, inducing important zonal shifts of the Walker circulation despite the absence of ENSO. Surprisingly, the interannual ISM rainfall variability is barely modified and the Indian Ocean does not force the monsoon circulation when ENSO is removed. On the contrary, the monsoon circulation significantly forces the Arabian Sea and Bay of Bengal SSTs, while its connection with the western tropical Indian Ocean is clearly driven by ENSO in our numerical framework. Convection and diabatic heating associated with above-normal ISM induce a strong response over the WNP, even in the absence of ENSO, favoring moisture convergence over India.

Influences of two types of El Niño event on the Northwest Pacific and tropical Indian Ocean SST anomalies

Science.gov (United States)

Hu, Haibo; Wu, Qigang; Wu, Zepeng

2018-01-01

Based on the HadISST1 and NCEP datasets, we investigated the influences of the central Pacific El Niño event (CP-EL) and eastern Pacific El Niño event (EP-EL) on the Sea Surface Temperature (SST) anomalies of the Tropical Indian Ocean. Considering the remote effect of Indian Ocean warming, we also discussed the anticyclone anomalies over the Northwest Pacific, which is very important for the South China precipitation and East Asian climate. Results show that during the El Niño developing year of EP-EL, cold SST anomalies appear and intensify in the east of tropical Indian Ocean. At the end of that autumn, all the cold SST anomaly events lead to the Indian Ocean Dipole (IOD) events. Basin uniform warm SST anomalies exist in the Indian Ocean in the whole summer of EL decaying year for both CP-and EP-ELs. However, considering the statistical significance, more significant warm SST anomalies only appear in the North Indian Ocean among the June and August of EP-EL decaying year. For further research, EP-EL accompany with Indian Ocean Basin Warming (EPI-EL) and CP El Niño accompany with Indian Ocean Basin Warming (CPI-EL) events are classified. With the remote effects of Indian Ocean SST anomalies, the EPI-and CPI-ELs contribute quite differently to the Northwest Pacific. For the EPI-EL developing year, large-scale warm SST anomalies arise in the North Indian Ocean in May, and persist to the autumn of the El Niño decaying year. However, for the CPI-EL, weak warm SST anomalies in the North Indian Ocean maintain to the El Niño decaying spring. Because of these different SST anomalies in the North Indian Ocean, distinct zonal SST gradient, atmospheric anticyclone and precipitation anomalies emerge over the Northwest Pacific in the El Niño decaying years. Specifically, the large-scale North Indian Ocean warm SST anomalies during the EPI-EL decaying years, can persist to summer and force anomalous updrafts and rainfall over the North Indian Ocean. The atmospheric

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis

International Nuclear Information System (INIS)

Yu, Bin; Mitchell, Grant A.; Richter, Andrea

2005-01-01

Cirhin (NP 1 16219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis. It is a 686-amino-acid WD40-repeat containing protein of unknown function that is predicted to contain multiple targeting signals, including an N-terminal mitochondrial targeting signal, a C-terminal monopartite nuclear localization signal (NLS) and a bipartite nuclear localization signal (BNLS). We performed the direct determination of subcellular localization of cirhin as a crucial first step in unraveling its biological function. Using EGFP and His-tagged cirhin fusion proteins expressed in HeLa and HepG2, cells we show that cirhin is a nucleolar protein and that the R565W mutation, for which all NAIC patients are homozygous, has no effect on subcellular localization. Cirhin has an active C-terminal monopartite nuclear localization signal (NLS) and a unique nucleolar localization signal (NrLS) between residues 315 and 432. The nucleolus is not known to be important specifically for intrahepatic cholestasis. These observations provide a new dimension in the study of hereditary cholestasis

The system of wind-driven seasonal coastal currents around the Indian subcontinent

Digital Repository Service at National Institute of Oceanography (India)

Shetye, S.R.

characteristic of the entire North Indian Ocean. It is a consequence of the occurrence of the monsoons. As the Sun moves towards the north during January-June as a part of its annual cycle, the Inter- Tropical Convergence Zone (ITCZ) follows it. When...

Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature

Directory of Open Access Journals (Sweden)

Dina Sameh Soliman

2018-03-01

Full Text Available Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our center when he had generalized fatigue and discoloration of hands. He presented with persistent polycythemia with elevated hemoglobin level. The patient was misdiagnosed in another center as polycythemia and treated with Imatinib. The diagnosis of PV was revisited and ruled out in view of negative JAK2, normal erythropoietin level and absence of features of panmyelosis. Clinical cyanosis and lowoxygen saturation in the presence of normal arterial oxygen tension was highly suggestive of methemoglobinemia. Arterial blood gas revealed a methemoglobin level of 38% (normal: 0-1.5%. Cytochrome B5 reductase (Methemoglobin reductase B was deficient at level of <2.6 U/g Hb (normal: 6.6-13.3, consistent with methemoglobin reductase (cytochrome b5 deficiency and hence the diagnosis of congenital methemoglobinemia was established. The role of Imatinib in provoking methemoglobinemia is questionable and association between Imatinib and methemoglobinemia never described before. In our case, there were no other offending drugs in aggravating the patients’ symptoms and cyanosis. The patient started on Vitamin C 500 mg once daily for which he responded well with less cyanosis and significant reduction of methemoglobin level. Congenital methemoglobinemia is a rare underreported hemoglobin disease and often clinically missed. Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here. 17 cases (~74% of type I and 6 cases (27% of type II. There is male predominance 73% versus 26% in females. Almost half of reported cases 12 cases (52% are Indian, 2 Japanese, 3 English, 2

Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

Science.gov (United States)

Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

2015-10-01

To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

INDIAN CHILDHOOD AND OTHER CHILDHOODS

Directory of Open Access Journals (Sweden)

Alceu Zoia

2010-12-01

Full Text Available This article aims to show how children of the Indian community Terena, from North Mato Grosso, live, how they are educated, and what are the conceptions of childhood among the members of this community. Taking childhood in various contexts, we seek to analyze how this education process has been carried out.

Vitamin B12 and Folic Acid Improve Gross Motor and Problem-Solving Skills in Young North Indian Children: A Randomized Placebo-Controlled Trial.

Science.gov (United States)

Kvestad, Ingrid; Taneja, Sunita; Kumar, Tivendra; Hysing, Mari; Refsum, Helga; Yajnik, Chittaranjan S; Bhandari, Nita; Strand, Tor A

2015-01-01

Deficiencies of vitamin B12 and folate are associated with delayed development and neurological manifestations. The objective of this study was to measure the effect of daily supplementation of vitamin B12 and/or folic acid on development in young North Indian children. In a randomized, double blind trial, children aged six to 30 months, received supplement with placebo or vitamin B12 and/or folic acid for six months. Children were allocated in a 1:1:1:1 ratio in a factorial design and in blocks of 16. We measured development in 422 children by the Ages and Stages Questionnaire 3rd ed. at the end of the intervention. Compared to placebo, children who received both vitamin B12 and folic acid had 0.45 (95% CI 0.19, 0.73) and 0.28 (95% CI 0.02, 0.54) higher SD-units in the domains of gross motor and problem solving functioning, respectively. The effect was highest in susceptible subgroups consisting of stunted children, those with high plasma homocysteine (> 10 μmol/L) or in those who were younger than 24 at end study. With the exception of a significant improvement on gross motor scores by vitamin B12 alone, supplementation of either vitamin alone had no effect on any of the outcomes. Our findings suggest that supplementation of vitamin B12 and folic acid benefit development in North Indian Children. ClinicalTrials.gov NCT00717730.

Congenital Hypothyroidism

Science.gov (United States)

... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

Directory of Open Access Journals (Sweden)

L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

Directory of Open Access Journals (Sweden)

D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

Stratification of zooplankton in the northwestern Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Paulinose, V.T.; Gopalakrishnan, T.C.; Nair, K.K.C.; Aravindakshan, P.N.

Study on stratification of zooplankton in the north western Indian Ocean was carried out with special reference to its relative abundance and distribution. Samples were collected using multiple plankton net, during first cruise of ORV Sagar Kanya...

Anatomic variations in intrahepatic bile ducts in a north Indian population.

Science.gov (United States)

Sharma, Vijay; Saraswat, Vivek Anand; Baijal, Sanjay Saran; Choudhuri, Gourdas

2008-07-01

In the present study, we described the anatomical variations in the branching patterns of intrahepatic bile ducts (IHD) and determined the frequency of each variation in north Indian patients. There are no data from India. The study group consisted of 253 consecutive patients (131 women) undergoing endoscopic retrograde cholangiograms for different indications. Anatomical variations in IHD were classified according to the branching pattern of the right anterior segmental duct (RASD) and the right posterior segmental duct (RPSD), presence or absence of first-order branch of left hepatic duct (LHD) and of an accessory hepatic duct. Anatomy of the IHD was typical in 52.9% of cases (n = 134), showing triple confluence in 11.46% (n = 29), anomalous drainage of the RPSD into the LHD in 18.2% (n = 46), anomalous drainage of the RPSD into the common hepatic duct (CHD) in 7.1% (n = 18), drainage of the right hepatic duct (RHD) into the cystic duct 0.4% (n = 1), presence of an accessory duct leading to the CHD or RHD in 4.7% (n = 12), individual drainage of the LHD into the RHD or CHD in 2.4% (n = 6), and unclassified or complex variations in 2.7% (n = 7). None had anomalous drainage of RPSD into the cystic duct. The branching pattern of IHD was atypical in 47% patients. The two most common variations were drainage of the RPSD into the LHD (18.2%) and triple confluence of the RASD, RPSD, and LHD (11.5%).

/sup 226/Ra in the western Indian Ocean

Energy Technology Data Exchange (ETDEWEB)

Chung, Y.

1987-09-01

/sup 226/Ra profiles have been measured in the western Indian Ocean as part of the 1977-78 Indian Ocean GEOSECS program. These profiles show a general increase in deep and bottom water Ra concentration from the Circumpolar region to the Arabian Sea. A deep Ra maximum which originates in the Arabian Sea and in the Somali basin at about 3000 m depth spreads southward into the Mascarene basin and remains discernible in the Madagascar and Crozet basins. In the western Indian Ocean, the cold Antarctic Bottom Water spreads northward under the possibly southward-flowing deep water, forming a clear benthic front along the Crozet basin across the Southwest Indian Ridge into the Madagascar and Mascarene basins. The Antarctic Bottom Water continues to spread farther north to the Somali basin through the Amirante Passage at 10/sup 0/S as a western boundary current. The benthic front and other characteristic features in the western Indian Ocean are quite similar to those observed in the western Pacific where the benthic front as a distinctive feature was first described by Craig et al. Across the Mid-Indian Ridge toward the Ceylon abyssal plain near the triple junction, Ra profiles display a layered structure, reflecting the topographic effect of the mid-ocean ridge system on the mixing and circulation of the deep and bottom waters. Both Ra and Si show a deep maximum north of the Madagascar Basin. Linear relationships between these two elements are observed in the deep and bottom water with slopes increasing northward. This suggests a preferential input of Ra over Si from the bottom sediments of the Arabian Sea and also from the flank sediments of the Somali basin.

A Report on: The National Seminar of American Indian Women [and] the North American Indian Women's Association Established by Delegates of this Seminar.

Science.gov (United States)

Extension Service (USDA), Washington, DC.

A report on the National Seminar of American Indian Women is presented. This meeting was planned to provide an opportunity for American Indian women to discuss the needs of Indian communities and expand their understanding of what constitutes an adequate community. The delegates were lay people selected from their home communities. Sixty-eight of…

Association of vitamin D receptor gene polymorphism (TaqI and Apa1) with bone mineral density in North Indian postmenopausal women.

Science.gov (United States)

Ahmad, Israr; Jafar, Tabrez; Mahdi, Farzana; Ameta, Keerti; Arshad, Md; Das, Siddharth Kumar; Waliullah, Shah; Rizvi, Imran; Mahdi, Abbas Ali

2018-06-15

Vitamin D receptor (VDR) gene has an important role as a candidate gene for the regulation of bone mass in osteoporosis. However, its association with bone mineral density (BMD) is controversial and has not been established in different ethnic populations. To enhance the understanding of VDR gene polymorphism in the context of BMD, we investigated the plausible genetic association of TaqI and ApaI polymorphism with BMD in North Indian postmenopausal women with osteoporosis.254 osteoporotic women (Age 55.82 ± 6.91) and 254 postmenopausal non osteoporotic women (Age 54.76 ± 6.26) were included in the study. VDR TaqI and ApaI polymorphism were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD was assessed by dual energy X-ray absorptiometry (DXA) at the lumbar spine (L 1 -L 4 ), hip, forearm and femoral neck. The average BMD with TT genotype was significantly lower at lumbar spine, hip and forearm. The Frequency of TT genotype and t allele was significantly high in osteoporotic women when compared with controls. The average BMD with Aa genotype was higher in ApaI. Furthermore, comparison of frequency distribution of genotype and allele for VDR ApaI between osteoporotic patients and controls did not show any significant difference. Our findings revealed that TaqI gene TT genotype was associated with low BMD in North Indian osteoporotic women. Moreover, TT genotype and t allele associated significantly with osteoporosis in postmenopausal women. Therefore, VDR TaqI gene is an important determinant of risk factor for osteoporosis. Copyright © 2018 Elsevier B.V. All rights reserved.

Cytomegalovirus Congenital Cataract

Directory of Open Access Journals (Sweden)

Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Oceanic and atmospheric conditions associated with the pentad rainfall over the southeastern peninsular India during the North-East Indian Monsoon season

Science.gov (United States)

Shanmugasundaram, Jothiganesh; Lee, Eungul

2018-03-01

The association of North-East Indian Monsoon rainfall (NEIMR) over the southeastern peninsular India with the oceanic and atmospheric conditions over the adjacent ocean regions at pentad time step (five days period) was investigated during the months of October to December for the period 1985-2014. The non-parametric correlation and composite analyses were carried out for the simultaneous and lagged time steps (up to four lags) of oceanic and atmospheric variables with pentad NEIMR. The results indicated that NEIMR was significantly correlated: 1) positively with both sea surface temperature (SST) led by 1-4 pentads (lag 1-4 time steps) and latent heat flux (LHF) during the simultaneous, lag 1 and 2 time steps over the equatorial western Indian Ocean, 2) positively with SST but negatively with LHF (less heat flux from ocean to atmosphere) during the same and all the lagged time steps over the Bay of Bengal. Consistently, during the wet NEIMR pentads over the southeastern peninsular India, SST significantly increased over the Bay of Bengal during all the time steps and the equatorial western Indian Ocean during the lag 2-4 time steps, while the LHF decreased over the Bay of Bengal (all time steps) and increased over the Indian Ocean (same, lag 1 and 2). The investigation on ocean-atmospheric interaction revealed that the enhanced LHF over the equatorial western Indian Ocean was related to increased atmospheric moisture demand and increased wind speed, whereas the reduced LHF over the Bay of Bengal was associated with decreased atmospheric moisture demand and decreased wind speed. The vertically integrated moisture flux and moisture transport vectors from 1000 to 850 hPa exhibited that the moisture was carried away from the equatorial western Indian Ocean to the strong moisture convergence regions of the Bay of Bengal during the same and lag 1 time steps of wet NEIMR pentads. Further, the moisture over the Bay of Bengal was transported to the southeastern peninsular

Tall Tales of North America.

Science.gov (United States)

Fresno City Unified School District, CA.

Designed for use in junior high school language arts classes, this learning activity packet introduces students to North American folklore. Selected readings cover Indian tales, real folk heroes (Davy Crockett and John Henry), imaginary folk heroes (Paul Bunyan and Pecos Bill), Black folk stories (Brer Rabbit), and tales of Washington Irving. Each…

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

OpenAIRE

Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

2014-01-01

We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right vent...

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Increasing Prevalence of Atrial Fibrillation and Permanent Atrial Arrhythmias in Congenital Heart Disease.

Science.gov (United States)

Labombarda, Fabien; Hamilton, Robert; Shohoudi, Azadeh; Aboulhosn, Jamil; Broberg, Craig S; Chaix, Marie A; Cohen, Scott; Cook, Stephen; Dore, Annie; Fernandes, Susan M; Fournier, Anne; Kay, Joseph; Macle, Laurent; Mondésert, Blandine; Mongeon, François-Pierre; Opotowsky, Alexander R; Proietti, Anna; Rivard, Lena; Ting, Jennifer; Thibault, Bernard; Zaidi, Ali; Khairy, Paul

2017-08-15

Atrial arrhythmias are the most common complication encountered in the growing and aging population with congenital heart disease. This study sought to assess the types and patterns of atrial arrhythmias, associated factors, and age-related trends. A multicenter cohort study enrolled 482 patients with congenital heart disease and atrial arrhythmias, age 32.0 ± 18.0 years, 45.2% female, from 12 North American centers. Qualifying arrhythmias were classified by a blinded adjudicating committee. The most common presenting arrhythmia was intra-atrial re-entrant tachycardia (IART) (61.6%), followed by atrial fibrillation (28.8%), and focal atrial tachycardia (9.5%). The proportion of arrhythmias due to IART increased with congenital heart disease complexity from 47.2% to 62.1% to 67.0% in patients with simple, moderate, and complex defects, respectively (p = 0.0013). Atrial fibrillation increased with age to surpass IART as the most common arrhythmia in those ≥50 years of age (51.2% vs. 44.2%; p congenital heart disease, with a predominantly paroxysmal pattern. However, atrial fibrillation increases in prevalence and atrial arrhythmias progressively become permanent as the population ages. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Congenital Heart Surgery Case Mix Across North American Centers and Impact on Performance Assessment.

Science.gov (United States)

Pasquali, Sara K; Wallace, Amelia S; Gaynor, J William; Jacobs, Marshall L; O'Brien, Sean M; Hill, Kevin D; Gaies, Michael G; Romano, Jennifer C; Shahian, David M; Mayer, John E; Jacobs, Jeffrey P

2016-11-01

Performance assessment in congenital heart surgery is challenging due to the wide heterogeneity of disease. We describe current case mix across centers, evaluate methodology inclusive of all cardiac operations versus the more homogeneous subset of Society of Thoracic Surgeons benchmark operations, and describe implications regarding performance assessment. Centers (n = 119) participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database (2010 through 2014) were included. Index operation type and frequency across centers were described. Center performance (risk-adjusted operative mortality) was evaluated and classified when including the benchmark versus all eligible operations. Overall, 207 types of operations were performed during the study period (112,140 total cases). Few operations were performed across all centers; only 25% were performed at least once by 75% or more of centers. There was 7.9-fold variation across centers in the proportion of total cases comprising high-complexity cases (STAT 5). In contrast, the benchmark operations made up 36% of cases, and all but 2 were performed by at least 90% of centers. When evaluating performance based on benchmark versus all operations, 15% of centers changed performance classification; 85% remained unchanged. Benchmark versus all operation methodology was associated with lower power, with 35% versus 78% of centers meeting sample size thresholds. There is wide variation in congenital heart surgery case mix across centers. Metrics based on benchmark versus all operations are associated with strengths (less heterogeneity) and weaknesses (lower power), and lead to differing performance classification for some centers. These findings have implications for ongoing efforts to optimize performance assessment, including choice of target population and appropriate interpretation of reported metrics. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

This screening approach may be a rapid preliminary method to test known loci for possible cosegregation with disease. pp 65-71 Perspectives. Candidate gene polymorphisms among North Indians and their association with schizophrenia in a case–control study · Prachi Semwal Suman Prasad Panchami G. Varma A. M. ...

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. RANA GOPAL SINGH. Articles written in Journal of Genetics. Volume 96 Issue 6 December 2017 pp 885-893 RESEARCH ARTICLE. Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations · SONAM RAJ RANA GOPAL ...

Occurrence of @iNeogloboquadrina pachyderma@@ new subspecies in the shelf-slope sediments of northern Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Setty, M.G.A.P.

~'N in the Bay of Bengal. Studies of hydrological conditions in the Indian Ocean reveal that the Subtropical Subsurface Water Mass is traceable as far north as the Gulf of Aden, and the Indian Ocean Deep Bottom Water Mass originating in the deepest...

Spiritual and religious aspects of torture and scalping among the Indian cultures in Eastern North America, from ancient to colonial times

Directory of Open Access Journals (Sweden)

Juha Hiltunen

2011-01-01

Full Text Available Only a few decades ago a common perception prevailed that the historic­al Native Americans were very prone to violence and warfare. Scalping and torture were seen as a specific custom attached into their ideology and sociocultural ethos. However in the 1960s a completely reversed picture started to emerge, following the course of other worldwide movements, such as ethnic rights, pan-Indianism, ecological conscience, revisionist historiography and so on. Immediately the Native American people came to be seen as the victims of the European colonialism and the Whites were the bad guys who massacred innocent women and children, either at Sand Creek or in Vietnam. Books were written in which the historians pointed out that the practice of scalping was actually not present in the Americas before the whites came. This theory drew sustenance from some early colonial accounts, especially from the Dutch and New England colonies, where it was documented that a special bounty was offered for Indian scalps. According to this idea, the practice of scalping among the Indians escalated only after this. On the other hand, the blame fell on the Iroquois tribesmen, whose cruel fighting spread terror throughout the seventeenth century, when they expanded an empire in the north eastern wilderness. This accords with those theorists who wanted to maintain a more balanced view of the diffusion of scalping and torture, agreeing that these traits were indeed present in Pre-Columbian America, but limited only to the Iroquoians of the east. Colonial American history has been rewritten every now and then. In the 1980s, and in the field of archaeology especially, a completely new set of insights have arisen. There has been a secondary burial of the myth of Noble Savage and a return of the old Wild Indian idea, but this time stripped of its cartoon stereo­typical attachments. The Indians are now seen as being like any other human beings, with their usual mixture of vices

Review of Excavating Occaneechi Town: Archaeology of an Eighteenth-Century Indian Village in North Carolina. 1998, edited by R.P. Stephen Davis Jr., Patrick C. Livingood, Trawick Ward, and Vincas P. Steponaitis. University of North Carolina Press. ISBN 0-8078-6503-6 [CD-ROM

Directory of Open Access Journals (Sweden)

Jonathan Bateman

1999-05-01

Full Text Available The CD-ROM Excavating Occaneechi Town: Archaeology of an Eighteenth-Century Indian Village in North Carolina has become a familiar site on my desk in the last few months. Not, I admit, because I have been avidly scouring its content on a regular basis, but because I have been putting off writing this review. A wealth of information can be an intimidating thing.

Pb-Sr-Nd isotopic data of Indian Ocean ridges: New evidence of large-scale mapping of mantle heterogeneities

International Nuclear Information System (INIS)

Hamelin, B.; Dupre, B.; Allegre, C.J.

1986-01-01

A Pb-Sr-Nd isotope study of South West and East Indian Ridges confirms that the Indian Ocean belongs to a specific regional isotopic domain, as previously suggested by the results from islands of this ocean. The isotopic domain defined by the Indian MORB is indeed different from that of the North Atlantic and East Pacific Oceans. This demonstrates that the convective circulation of the upper mantle does not allow a rapid homogenization from one region to the other. The isotopic data of the Indian ridges can be interpreted by a contamination model, in which the depleted upper mantle (identical to that under the North Atlantic) is contaminated by two different types of contaminant, one corresponding to the source of the ''central Indian Ocean'' islands (Amsterdam, St. Paul, Marion, Prince Edward, Reunion, Rodriguez, Mauritius), and the other to a source similar to that of Walvis or Ninety East aseismic ridges. These two contaminants would have contributed to the ridge volcanism in different proportion over time. (orig.)

On the role of convective systems over the northwest Pacific and monsoon activity over the Indian subcontinent

Digital Repository Service at National Institute of Oceanography (India)

RameshKumar, M.R.; Babu, A; Reason, C.

been examined in relation to breaks in monsoon conditions over the Indian sub-continent during contrasting monsoon years. A see-saw nature of convection between the NWP and north Indian Ocean was found during the years with excess monsoon rainfall...

Journal of Chemical Sciences | Indian Academy of Sciences

Indian Academy of Sciences (India)

DD should be arranged in favour of "Indian Academy of Sciences" payable at Bengaluru. For details, contact: Springer Distribution Centre GmbH. Customer Service Journals Haberstrasse 7, D-69126 Heidelberg Germany. Email: subscriptions@springer.com. For the Americas (North, South, Central and the Caribbean):

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

Evaluation of skeletal maturity in North Indian subjects using an objective method based on cervical vertebral bone age and assessment of its reliability as compared to hand wrist radiographic method

Directory of Open Access Journals (Sweden)

Sandeep Kumar

2016-01-01

Full Text Available Aim: To evaluate the skeletal maturity objectively and assess the reliability and validity of this method in North Indian subjects. Materials and Methods: Sixty subjects (8-16 years were taken and divided into two groups of 30 males and 30 females. For each subject, cervical vertebral bone age (VA was evaluated by the objective method described by Mito et al., and bone age (BA was estimated by Grave and Brown method of hand wrist radiograph. Correlations and average differences between various ages were determined. An analysis of variance and Tukey′s post-hoc tests were used to compare various ages at 5% significance level. Results: The correlations between cervical VAs and BAs were higher than other ages and also more in females than males. The analysis of female data showed no statistically significant difference (P > 0.05 whereas analysis of male data showed statistically significant difference (P < 0.05 between various ages. Conclusion: The findings of the present study suggest that this method of objectively evaluating skeletal maturation is reliable and can be applied to North Indian females only. The development of a new method to objectively evaluate cervical VA in males is needed.

Concentrations and isotopic compositions of neodymium in the eastern Indian Ocean and Indonesian straits

Science.gov (United States)

Jeandel, Catherine; Thouron, Danièle; Fieux, Michèle

1998-08-01

Four profiles of Nd concentration and isotopic composition were determined at two stations in the eastern Indian Ocean along a north/south section between Bali and Port-Hedland and at two others in the Timor and Sumba straits. Neodymium concentrations increase with depth, between 7.2 pmol/L at the surface to 41.7 pmol/L close to the bottom. The ɛ Nd of the different water masses along the section are -7.2 ± 0.2 for the Indian Bottom Waters and -6.1 ± 0.2 for the Indian Deep Waters. The intermediate and thermocline waters are less radiogenic at st-10 than at st-20 (-5.3 ± 0.3 and -3.6 ± 0.2, respectively). In the Timor Passage and Sumba Strait, ɛ Nd of the Indonesian waters is -4.1 ± 0.2 and that of the North Indian Intermediate Waters is -2.6 ± 0.3. These distinct isotopic signals constrain the origins of the different water masses sampled in the eastern Indian Ocean. They fix the limit of the nonradiogenic Antarctic and Indian contributions to the southern part of the section whereas the northern part is influenced by radiogenic Indonesian flows. In addition, the neodymium isotopic composition suggests that in the north, deep waters are influenced by a radiogenic component originating from the Sunda Arch Slope flowing deeper than 1200 m, which was not documented previously. Mixing calculations assess the conservativity of ɛ Nd on the scale of an oceanic basin. The origin of the surprising radiogenic signal of the NIIW is discussed and could result from a remobilization of Nd sediment-hosted on the Java shelf, requiring important dissolved/particulate exchange processes. Such processes, occurring in specific areas, could play an important role in the world ocean Nd budget.

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

Directory of Open Access Journals (Sweden)

Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Work, worksites, and wellbeing among North American Indian women: a qualitative study.

Science.gov (United States)

Christiansen, Karina; Gadhoke, Preety; Pardilla, Marla; Gittelsohn, Joel

2017-04-10

The purpose of this study was to understand what factors influenced work-family balance and related health behaviors among a sample of rural North American Indian women. We interviewed 89 women through both in-depth interviews and focus groups across four tribal communities in the American Southwest and Upper Midwest between July 2010 and August 2011. Interviews were transcribed, coded, and analyzed for emerging themes related to work- family demands placed on women and resources available to cope with those demands. Three prominent themes emerged: structural characteristics (the context of rural reservation life), role stressors (women's multiple and conflicting roles) and the influence of social support (communal nature of care in the family and institutional support in the workplace). We found that women in participating rural reservation communities often acted as primary caregivers for both immediate and extended family, and often placed the needs of others before themselves. The context of rural reservations, with high rates of unemployment, poverty, and chronic illnesses associated with the collective trauma of colonization, placed high demands on female caregivers. Social support from within the workplace, family, and cultural traditions helped some female caregivers balance the demands of home and work. Tribal worksites could be a resource for promoting health and work-life balance by being responsive to the particular demands placed on women that often interfere with engaging in positive health behaviors in general and tribal wellness programs in particular.

Historical Perspectives of Federal Educational Promises and Performance Among the Fort Berthold Indians.

Science.gov (United States)

Stockman, Wallace Henry

The study concerns Federal Indian Law--its social origins, its historical growth and direction, and its effectiveness among the 3 affiliated tribes (Mandan, Hidatsa, and Arikara) of the Ft. Berthold American Indian Reservation (population total 2,750, with a birth rate of 40 per 1,000 and a death rate of 9 per 1,000) located in North Dakota. It is…

Key aspects congenital infection

Directory of Open Access Journals (Sweden)

Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

Association of systemic risk factors with the severity of retinal hard exudates in a north Indian population with type 2 diabetes

Directory of Open Access Journals (Sweden)

Sachdev N

2010-01-01

Full Text Available Background: The various risk factors for diabetic retinopathy and its spectrum are still poorly understood in the Indian population. Aims: To study the association of various systemic risk factors with retinal hard exudates in type 2 diabetic north Indian patients and to measure the incidence of dyslipidemia in them. Settings and Design: A tertiary-hospital-based cross-sectional study. Materials and Methods: An observational case-study which included 180 type 2 diabetic patients (180 eyes of nonproliferative diabetic retinopathy (NPDR with clinically significant macular edema (CSME. In these patients the retinal hard exudates were graded on a central 500 fundus picture using modified Airlie House classification and divided into three groups of absent or minimal hard exudates (Group 1, hard exudates present (Group 2 and prominent hard exudates (Group 3. Their association with various risk factors, namely the age of onset of diabetes and its duration, gender, insulin therapy, and various systemic parameters like hypertension, blood hemoglobin, glycosylated hemoglobin, serum (s. creatinine levels, 24-h proteinuria and complete lipid profile including total s. cholesterol, low-density lipoprotein cholesterol (LDL, high-density lipoprotein cholesterol (HDL, very low-density lipoprotein cholesterol (VLDL and s. triglyceride (TG was studied. The incidence of dyslipidemia was also calculated among these groups of patients. Statistical Analysis: ANOVA test, linear regression analysis and Spearman′s correlation test. Results: On univariate analysis, the retinal hard exudates were significantly associated with s. creatinine (P=0.016, systolic blood pressure (P=0.014, s. cholesterol (P < 0.001, s. LDL (P=0.008 and s. TG (P=0.013 levels. While on linear regression analysis, s. cholesterol (P < 0.001 and s. LDL cholesterol (P=0.028 were found to be independent risk factors affecting the density of retinal hard exudates. On Spearman′s correlation test, the

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Seasonal variations of thermocline circulation and ventilation in the Indian Ocean

Science.gov (United States)

You, Yuzhu

1997-05-01

Two seasonal hydrographic data sets, including temperature, salinity, dissolved oxygen, and nutrients, are used in a mixing model which combines cluster analysis with optimum multiparameter analysis to determine the spreading and mixing of the thermocline waters in the Indian Ocean. The mixing model comprises a system of four major source water masses, which were identified in the thermocline through cluster analysis. They are Indian Central Water (ICW), North Indian Central Water (NICW) interpreted as aged ICW, Australasian Mediterranean Water (AAMW), and Red Sea Water (RSW)/Persian Gulf Water (PGW). The mixing ratios of these water masses are quantified and mapped on four isopycnal surfaces which span the thermocline from 150 to 600 m in the northern Indian Ocean, on two meridional sections along 60°E and 90°E, and on two zonal sections along 10°S and 6°N. The mixing ratios and pathways of the thermocline water masses show large seasonal variations, particularly in the upper 400-500 m of the thermocline. The most prominent signal of seasonal variation occurs in the Somali Current, the western boundary current, which appears only during the SW (summer) monsoon. The northward spreading of ICW into the equatorial and northern Indian Ocean is by way of the Somali Current centered at 300-400 m on the σθ=26.7 isopycnal surface during the summer monsoon and of the Equatorial Countercurrent during the NE (winter) monsoon. More ICW carried into the northern Indian Ocean during the summer monsoon is seen clearly in the zonal section along 6°N. NICW spreads southward through the western Indian Ocean and is stronger during the winter monsoon. AAMW appears in both seasons but is slightly stronger during the summer in the upper thermocline. The westward flow of AAMW is by way of the South Equatorial Current and slightly bends to the north on the σθ=26.7 isopycnal surface during the summer monsoon, indicative of its contribution to the western boundary current. Outflow

Genetics Home Reference: congenital hypothyroidism

Science.gov (United States)

... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. AMIT KUMAR MADESHIYA. Articles written in Journal of Genetics. Volume 96 Issue 1 March 2017 pp 53-64 RESEARCH ARTICLE. Association of IL-10 gene (−1082A>G, −819C>T and −592C>A) polymorphism and its serum level with metabolic syndrome of north Indian subjects.

Synthetic review on the genetic relatedness between North Africa ...

African Journals Online (AJOL)

Soumaya

the Horn of Africa and the Indian Ocean in the southeast. ... threatened until the Islamic Arabs expanded their religion and culture to the Maghreb, ... decline from the Middle East toward Central Asia, Caucasus, North Africa and Europe.

Congenital heat disease

International Nuclear Information System (INIS)

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

Evaluation of antioxidants and argpyrimidine in normal and cataractous lenses in north Indian population

Directory of Open Access Journals (Sweden)

Bharani K Mynampati

2017-07-01

Full Text Available AIM: To assess the level of glutathione, thioltransferase, and argpyrimidine in nuclear and cortical cataractous lenses as well as in the clear lenses in the north Indian population. METHODS: Human cataractous lenses were collected from the patients who underwent extracapsular cataract extraction surgery; clear lenses were collected from the freshly donated eye bank eyes. Antioxidant molecules such as glutathione and thioltransferase enzyme activity were measured; simultaneously in these lenses a blue fluorophore argpyrimidine, an advanced glycation end (AGE product level was assessed using high performance liquid chromatography (HPLC. RESULTS: The protein concentration was found to be present at higher levels in the control lenses compared to cataract lenses. A significant decrease in the glutathione level was observed in the nuclear cataractous lenses compared to cortical cataractous (P=0.004 and clear lenses (P≤0.005, but no significant change in the level of antioxidant enzyme thioltransferase was observed. Further, argpyrimidine a blue fluorophore (AGE was found to be significantly higher in the nuclear cataract (P=0.013 compared to cortical cataract lenses. CONCLUSION: Antioxidants such as glutathione significantly decrease in age-related nuclear and cortical cataract and an AGE, argpyrimidine are present at significantly higher levels in nuclear cataract.

Age related changes in size of thyroid follicle in north Indian population: A histologic study

Directory of Open Access Journals (Sweden)

Preeti Malik

2016-05-01

Full Text Available Due to increasing number of cases of thyroid gland disorders nowadays, there are rising trends of thyroid gland surgeries and interventions which requires comprehensive data regarding the gland. This study was done to find out the changes in the size of the thyroid follicle in different age groups. The age groups were Group A - upto 20 years, Group B – 21-50 years and Group C – above 50 years. The study was conducted on 60 human thyroid glands in the Department of Anatomy in collaboration with Department of Pathology, Pt. B. D. Sharma Post Graduate Institute of Medical Sciences, Rohtak in North Indian population. The diameter of the thyroid follicle was measured by Image Analyzer. The study revealed that the mean size of the thyroid follicle was found to be in Group A - 56.38±14.12 µm, Group B - 130.08±30.67 µm and Group C - 96.05±12.86 µm. The study concluded that the mean size of the thyroid follicle was found to be higher in Group B (21-50 years followed by Group C (above 50 years followed by Group A (below 20 years.

Cultural macroevolution on neighbor graphs : vertical and horizontal transmission among Western North American Indian societies.

Science.gov (United States)

Towner, Mary C; Grote, Mark N; Venti, Jay; Borgerhoff Mulder, Monique

2012-09-01

What are the driving forces of cultural macroevolution, the evolution of cultural traits that characterize societies or populations? This question has engaged anthropologists for more than a century, with little consensus regarding the answer. We develop and fit autologistic models, built upon both spatial and linguistic neighbor graphs, for 44 cultural traits of 172 societies in the Western North American Indian (WNAI) database. For each trait, we compare models including or excluding one or both neighbor graphs, and for the majority of traits we find strong evidence in favor of a model which uses both spatial and linguistic neighbors to predict a trait's distribution. Our results run counter to the assertion that cultural trait distributions can be explained largely by the transmission of traits from parent to daughter populations and are thus best analyzed with phylogenies. In contrast, we show that vertical and horizontal transmission pathways can be incorporated in a single model, that both transmission modes may indeed operate on the same trait, and that for most traits in the WNAI database, accounting for only one mode of transmission would result in a loss of information.

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Congenital orbital teratoma

Directory of Open Access Journals (Sweden)

Shereen Aiyub

2013-01-01

Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

The present case–control study was to evaluate the possible association between IL10 A1082G gene and OSCC in north Indian population. Analysis of IL10 A1082G genotype in 232 OSCC cases and 221 healthy controls of comparable age, gender, smokers, tobacco chewing and alcohol consumption. IL10 A1082G status ...

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Prevalence of congenital amusia.

Science.gov (United States)

Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

Do Human Papilloma Viruses Play Any Role in Oral Squamous Cell Carcinoma in North Indians?

Science.gov (United States)

Singh, Vineeta; Husain, Nuzhat; Akhtar, Naseem; Kumar, Vijay; Tewari, Shikha; Mishra, Sridhar; Misra, Sanjeev; Khan, M Y

2015-01-01

Oral squamous cell carcinoma (OSCC) is the most prevalent malignancy among males in India. While tobacco and alcohol are main aetiological factors, human papilloma virus (HPV) presence has surprisingly increased in head and neck Squamous Cell Carcinoma (HNSCC) in the past two decade but its frequency in OSCCS is still uncertain. We aim to explore the frequency of HPV and its major genotypes in North Indian patients and their association with clinicopathological and histopathological features and p16 expression pattern. The study group comprised 250 histologically proven cases of OSCC. HPV was detected by real time PCR in tumor biopsy specimens and confirmed by conventional PCR with PGMY09/ PGMY11 primers. Genotyping for high-risk types 16/ 18 was conducted by type specific PCR. p16 expression was assessed by immunohistochemsitry. HPV presence was confirmed in 23/250 (9.2%) OSCC cases, of which 30.4% had HPV 16 infection, 17.4%were positive for HPV 18 and 26.1% had co-infections. HPV presence was significantly associated with male gender (p=0.02) and habit of pan masala chewing (p=0.01). HPV positive cases also had a history of tobacco consumption in 91.3% cases. p16 over expression was observed in 39.1% of HPV positive cases but this was not significantly different from negative cases (p=0.54). The frequency of HPV in OSCC is low in North-India and majority of cases are associated with a tobacco habit. It appears that tobacco shows a confounding effect in HPV positive cases and use of p16 protein as a reliable marker to assess the potential etiological role of HPV in OSCC in our population is not suggested.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

A Bibliography on American Indians. Bibliographic Series No. 36.

Science.gov (United States)

Perry, Larry S.

The information sources on Indians of North and South America which are listed were selected from the holdings of the Arkansas University library. Materials are grouped by type, including bibliographies, biographies, catalogs and directories, documentary histories, laws and treaties, encyclopedias and guides, handbooks and sourcebooks, microfilm,…

Congenital Heart Defects and CCHD

Science.gov (United States)

... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Congenital amusias.

Science.gov (United States)

Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

Determination of gold and arsenic in Indian tobacco leaves

International Nuclear Information System (INIS)

Purkayastha, B.C.; Bhattacharyya, D.K.

1975-01-01

Two varieties of Indian Tobacco leaves have been analysed for gold and arsenic by neutron activation ( 76 As, 198 Au). Nicotiana rustica variety from North Bengal was found to contain 3.7x10 -1 ppm of gold and 4.0x10 -3 ppm of arsenic and the nicotiana tabaccum variety from Andhra Pradesh contains 1.26x10 -1 ppm of gold and 5.1x10 -3 ppm of arsenic, respectively. Unlike those in other countries Indian tobacco leaves seem to be enriched in the gold content and depleted in the arsenic content. The soil of North Bengal is richer in gold than the soil of Andhra Pradesh which requires further investigation, and the amount of arsenic in both soils is physiologically insignificant. Irradiation of leaf samples was done in a CIRUS reactor at a neutron flux of 10 13 n cm -2 s -1 for seven days. (F.G.)

Coral Bleaching and Associated Mortality at Mayotte, Western Indian ...

African Journals Online (AJOL)

Mamoudzou 97600, Mayotte. Keywords: coral, bleaching, mortality, Mayotte, Western Indian Ocean. Abstract—Bleaching and associated coral mortality were assessed on fringing and barrier reefs on the north and east coasts of Mayotte from 1-24 May 2010. Major bleaching was encountered; nearly 80% of the corals were ...

Congenital malaria in China.

Directory of Open Access Journals (Sweden)

Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

... in IL-10 gene (−819C>T and −592C>A), haplotypes (ACC and GTA) and serum level are significantly associated with risk of MetS. IL- 10 −819C>T and −592C>A polymorphic variants are also significantly associated with insulin level and homeostasis model assessment-insulin resistance in north Indian MetS subjects.

High prevalence of ACE DD genotype among north Indian end stage renal disease patients

Directory of Open Access Journals (Sweden)

Pandirikkal Baburajan Vinod

2006-10-01

Full Text Available Abstract Background The Renin-Angiotensin system (RAS is a key regulator of both blood pressure and kidney functions and their interaction. In such a situation, genetic variability in the genes of different components of RAS is likely to contribute for its heterogeneous association in the renal disease patients. Angiotensin converting enzyme-1 (ACE-1 is an important component of RAS which determines the vasoactive peptide Angiotensin-II. Methods In the present study, we have investigated 127 ESRD patients and 150 normal healthy controls from north India to deduce the association between ACE gene polymorphism and ESRD. The inclusion criteria for patients included a constantly elevated serum creatinine level above normal range (ranging from 3.4 to 15.8 and further the patients were recommended for renal transplantation. A total of 150 normal healthy controls were also genotyped for ACE I/D polymorphism. The criterion of defining control sample as normal was totally based on the absence of any kidney disease determined from the serum creatinin level. Genotyping of ACE I/D were assayed by polymerase chain reaction (PCR based DNA amplification using specific flanking primers Based on the method described elsewhere. Results The difference of DD and II genotypes was found highly significant among the two groups (p = 0.025; OR = 3.524; 95%CI = 1.54-8.07. The combined genotype DD v/s ID+II comparison validated that DD genotype is a high risk genotype for ESRD (p = 0.001; OR = 5.74; 95%CI limit = 3.4-8.5. However, no correlation was obtained for different biochemical parameters of lipid profile and renal function among DD and non DD genotype. Interestingly, ~87% of the DD ESRD patients were found hypertensive in comparison to the 65% patients of non DD genotype Conclusion Based on these observations we conclude that ACE DD genotype implicate a strong possible role in the hypertensive state and in renal damage among north Indians. The study will help in

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Congenital platelet function defects

Science.gov (United States)

... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

Directory of Open Access Journals (Sweden)

Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

Directory of Open Access Journals (Sweden)

Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Subclinical hypothyroidism in the first trimester of pregnancy in North India

Directory of Open Access Journals (Sweden)

Jubbin Jagan Jacob

2013-01-01

Full Text Available Subclinical hypothyroidism based on population and trimester specific cut-offs is reported to complicate 1-2% of all pregnancies. Using the recent Endocrine Society guidelines of 2.5 mIU/L of Thyroid Stimulating Hormone as the upper level of normal in the first trimester the reported prevalence of subclinical hypothyroidism is much higher. Recent publications have also emphasized that there is considerable racial variation in the prevalence of thyroid disorders in pregnancy. Among published literature North Indian women appear to have the highest rates of subclinical hypothyroidism in the first trimester of pregnancy. More widespread use of universal screening and trimester specific ranges in pregnancy for thyroid hormonal assays will lead to a large number of North Indian women requiring treatment for thyroid disorders in pregnancy.

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

The temporal and spatial variability of the various meteorological parameters over India and its different subregions is high. The Indian subcontinent is surrounded by the complex Himalayan topography in north and the vast oceans in the east, west and south. Such distributions have dominant influence over its climate and ...

Insects of terrestrial origin over Indian Ocean during north-east monsoon

Digital Repository Service at National Institute of Oceanography (India)

Pathak, S.C.; Kulshrestha, V.; Choubey, A; Parulekar, A

Airborne insects, carried by winds were trapped over the Indian Ocean (Latitude 14 degrees N to 4 degrees S; Longitude 60 degrees-76 degrees 34 minutes E), in the course of cruise 109, ORV Sagar Kanya (January 4-February 6, 1996). A total of 3...

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

Directory of Open Access Journals (Sweden)

Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Congenital Heart Information Network

Science.gov (United States)

... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Pb sbnd Sr sbnd Nd isotopic data of Indian Ocean ridges: new evidence of large-scale mapping of mantle heterogeneities

Science.gov (United States)

Hamelin, Bruno; Dupré, Bernard; Allègre, Claude J.

1986-01-01

A Pb sbnd Sr sbnd Nd isotope study of South West and East Indian Ridges confirms that the Indian Ocean belongs to a specific regional isotopic domain, as previously suggested by the results from islands of this ocean. The isotopic domain defined by the Indian MORB is indeed different from that of the North Atlantic and East Pacific Oceans. This demonstrates that the convective circulation of the upper mantle does not allow a rapid homogenization from one region to the other. The isotopic data of the Indian ridges can be interpreted by a contamination model, in which the depleted upper mantle (identical to that under the North Atlantic) is contaminated by two different types of contaminant, one corresponding to the source of the "central Indian Ocean" islands (Amsterdam, St. Paul, Marion, Prince Edward, Réunion, Rodriguez, Mauritius), and the other to a source similar to that of Walvis or Ninety East aseismic ridges. These two contaminants would have contributed to the ridge volcanism in different proportions over time.

Early detection of congenital syphilis

Directory of Open Access Journals (Sweden)

Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Genetics Home Reference: critical congenital heart disease

Science.gov (United States)

... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Dissolved inorganic carbon, temperature, salinity and other variables collected from discrete sample and profile observations using CTD, bottle and other instruments from the Hakuho Maru in the Indian Ocean, North Pacific Ocean and South Pacific Ocean from 2001-12-08 to 2002-01-19 (NODC Accession 0113547)

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — NODC Accession 0113547 includes biological, chemical, discrete sample, physical and profile data collected from Hakuho Maru in the Indian Ocean, North Pacific Ocean...

Dissolved inorganic carbon, temperature, salinity and other variables collected from discrete sample and profile observations using CTD, bottle and other instruments from the Hakuho Maru in the Indian Ocean, North Pacific Ocean and South Pacific Ocean from 2001-12-08 to 2002-01-19 (NODC Accession 0112347)

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — NODC Accession 0112347 includes biological, chemical, discrete sample, physical and profile data collected from Hakuho Maru in the Indian Ocean, North Pacific Ocean...

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

This paper describes the variability in the diurnal range of SST in the north Indian Ocean using in situ measurements and tests the suitability of simple regression models in estimating the diurnal range.SST measurements obtained from 1556 drifting and 25 moored buoys were used to determine the diurnal range of SSTs.

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

The Indian northeast monsoon is inherently chaotic in nature as the rainfall realised in the peninsular India depends substantially on the formation and movement of low-pressure systems in central and southwest Bay of Bengal and on the convective activity which is mainly due to the moist north-easterlies from Bay of ...

Chimpanzees prefer African and Indian music over silence.

Science.gov (United States)

Mingle, Morgan E; Eppley, Timothy M; Campbell, Matthew W; Hall, Katie; Horner, Victoria; de Waal, Frans B M

2014-10-01

[Correction Notice: An Erratum for this article was reported in Vol 40(4) of Journal of Experimental Psychology: Animal Learning and Cognition (see record 2014-35305-001). For the article, the below files were used to create the audio used in this study. The original West African akan and North Indian raga pieces were used in their entirety and the Japanese taiko piece was used from the 0:19 second mark through the end. The tempo of each piece was adjusted so that they maintained an identical base tempo of 90 beats per minute, then looped to create 40 minutes of continuous music. Additionally, the volume of the music was standardized at 50 dB so that the all music maintained the same average amplitude. All audio manipulations were completed using GarageBand © (Apple Inc.).] All primates have an ability to distinguish between temporal and melodic features of music, but unlike humans, in previous studies, nonhuman primates have not demonstrated a preference for music. However, previous research has not tested the wide range of acoustic parameters present in many different types of world music. The purpose of the present study is to determine the spontaneous preference of common chimpanzees (Pan troglodytes) for 3 acoustically contrasting types of world music: West African akan, North Indian raga, and Japanese taiko. Sixteen chimpanzees housed in 2 groups were exposed to 40 min of music from a speaker placed 1.5 m outside the fence of their outdoor enclosure; the proximity of each subject to the acoustic stimulus was recorded every 2 min. When compared with controls, subjects spent significantly more time in areas where the acoustic stimulus was loudest in African and Indian music conditions. This preference for African and Indian music could indicate homologies in acoustic preferences between nonhuman and human primates. .

Letter from North Dakota: Inviting the People to See

Science.gov (United States)

Strickler, Eve

1974-01-01

A descriptive account of the diverse experiences and reactions, both positive and negative, of a resource teacher for a Follow Through Program at an Indian elementary school in Fort Yates, North Dakota, and her attempts to promote teacher cooperation and engender local involvement in the school. (EH)

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

In this study, the sensitivity of numerical simulations of tropical cyclones to physics parameterizations is carried out with a view to determine the best set of physics options for prediction of cyclones originating in the north Indian Ocean. For this purpose, the tropical cyclone Jal has been simulated by the advanced (or state of ...

Congenital chylous ascites

International Nuclear Information System (INIS)

Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

Single nucleotide polymorphisms at interleukin (IL-1β + 3954 and vitamin D receptor (VDR TaqI in chronic periodontitis patients: A pilot study in North Indian population

Directory of Open Access Journals (Sweden)

Anika Daing

2015-01-01

Full Text Available Background: Increasing evidences support the role of genetic factors in susceptibility to chronic periodontitis. The aim of the present pilot study was to explore the association of two potential single nucleotide polymorphisms (SNPs: Interleukin (IL-1β + 3954 (rs1143634, C > T and vitamin D receptor (VDR TaqI (rs731236, T > C with chronic periodontitis in a North Indian population. Materials and Methods: Twenty-eight chronic periodontitis subjects and 47 periodontally healthy controls were recruited. Individual samples of venous blood were obtained from each subject. Genotyping was done by polymerase chain reaction, followed by restriction fragment length polymorphism (PCR-RFLP. Logistic regression and chi square test were used for genetic association analysis and a P value less than 0.05 taken as statistical significance. Statistical Analysis Used: Chi square test and odds ratio (OR was used. Results: Genotypes and alleles of SNP IL-1β + 3954 did not show a significant association (P > 0.05 with chronic periodontitis. Genotype CC and allele C of VDR TaqI were significantly associated with a higher risk for chronic periodontitis as compared to subjects with TT genotype (CC/TT OR = 4.615; 95% confidence interval [CI]: 1.17 to 18.078 P = 0.028 and allele T (C/T OR = 2.423; 95% CI: 1.179 to 4.980. Conclusion: In North Indian population, genotype CC and allele C of VDR TaqI were associated with risk of chronic periodontitis. No significant correlation was found for IL-1β + 3954 polymorphism and chronic periodontitis.

Congenital nystagmus and negative electroretinography

Directory of Open Access Journals (Sweden)

Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

Congenital and perinatal cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

Multifocal Congenital Hemangiopericytoma.

Science.gov (United States)

Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

Journal of Earth System Science | Indian Academy of Sciences

Indian Academy of Sciences (India)

The sediment records along the bedrock rivers of Kachchh register imprints of the Indian summer monsoon (ISM), which is the major source of moisture to the fluvial system in western India. The Rukmawati River originates from the Katrol Hill Range in the north and flows towards the south, into the Gulf of Kachchh. The field ...

ENSO modulation of interannual variability of dust aerosols over the northwest Indian ocean

Digital Repository Service at National Institute of Oceanography (India)

Banerjee, P.; PrasannaKumar, S.

Mineral dust is known to affect many aspects of the climate of the north Indian Ocean (IO) However, what controls its interannual variability over this region is largely unknown The authors study the mechanism controlling the interannual variability...

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome

Directory of Open Access Journals (Sweden)

Abramowicz Marc

2008-10-01

Full Text Available Abstract Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2. Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan. All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma. Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and

( Camelus dromedarius ) of North east sahel region of Nigeria

African Journals Online (AJOL)

The values for red blood cell count, haemoglobin concentration, packed cell volume and erythrocyte indices were similar to those obtained from camels in Sokoto (North West Region) Nigeria; and also in accord with values published in the literature for Indian camels. Total leucocyte counts were relatively higher but within ...

Serum level of orexin-A, leptin, adiponectin and insulin in north Indian obese women.

Science.gov (United States)

Mishra, Sameeksha; Gupta, Vani; Mishra, Supriya; Sachan, Rekha; Asthana, Akash

2017-12-01

Obesity is regulated by different metabolic factors like leptin, adiponectin insulin and neuropeptide orexin-A. The aim of this study is to assess the role of these hormones and their interrelationship with obesity in north Indian women. A total of 168 obese women with Body Mass Index (BMI)>30kg/m 2 and 150 lean women (BMIWomen with obesity were further subdivided into two groups according to their BMI, 71 overweight women with the BMI 25-29.9kg/m 2 (mean±S.D: 27.87±0.71) and the 97 obese women with BMI>30kg/m 2 (34.68±1.90). Orexin -A, leptin and adiponectin were estimated using quantitative sandwich enzyme linked immunoassay and insulin was estimated by using an immuno-radiometric assay. Orexin -A and adiponectin level were significantly lower however, leptin and inulin level were significantly higher in obese women as compared with control group. Further, the one- way group analysis showed that the orexin -A and adiponectin level were significantly lower but leptin and insulin level was significantly higher in obese women as compared to overweight and control group respectively. Result showed that the level of adiponectin, leptin, orexin-A and insulin play an important role in the regulation of energy expenditure. In obesity, the activity of these peptides is disturbed. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

Directory of Open Access Journals (Sweden)

Lalita Nemani

2014-01-01

Full Text Available We report a case of type-A Coffin-Siris syndrome (CSS with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD, subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.

Science.gov (United States)

Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

2014-09-01

We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

A new atlas of temperature and salinity for the North Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Chatterjee, A; Shankar, D.; Shenoi, S.S.C.; Reddy, G.V.; Michael, G.S.; Ravichandran, M.; Gopalakrishna, V.V.; Rao, E.P.R.; UdayaBhaskar, T.V.S.; Sanjeevan, V.N.

the available hydrographic data from the Indian Exclusive Economic Zone (EEZ), leading to the potential for improvement if the data from this region are included to prepare a new climatology. We use all the data that went into the preparation of the WOA...

A guide for identification and continuing care of adult congenital heart disease patients in primary care.

Science.gov (United States)

Ellison, S; Lamb, J; Haines, A; O'Dell, S; Thomas, G; Sethi, S; Ratcliffe, J; Chisholm, S; Vaughan, J; Mahadevan, V S

2013-03-10

Surgical and other advances in the treatment and care of congenital heart disease have resulted in a significant increase in the number of adults with congenital heart disease (ACHD), many of whom have no regular cardiology follow-up. Optimised care for ACHD patients requires continuity of specialist and shared care and education of practitioners and patients. The challenges for managing ACHD were identified by a Health Needs Assessment in the North West and are addressed within the UK Department of Health's ACHD Commissioning Guide. An ACHD model of care was recommended in the North West of England and developed by the three North West Cardiac & Stroke Networks. Within this, a Task Group focused on the role of primary care in the identification and continuing care of ACHD patients. A feasibility study demonstrated that existing diagnostic Read Codes can identify ACHD patients on general practice registers. An ACHD Toolkit was developed to provide algorithms to guide the appropriate management of ACHD patients through primary, secondary and/or specialist ACHD care and to improve education/knowledge amongst primary care staff about ACHD and its wider implications. Early findings during the development of this Toolkit illustrate a wide disparity of provision between current and optimal management strategies. Patients lost to follow-up have already been identified and their management modified. By focusing on identifying ACHD patients in primary care and organising/delivering ACHD services, the ACHD Toolkit could help to improve quality, timeliness of care, patient experience and wellbeing. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Views and attitudes towards blood donation: a qualitative investigation of Indian non-donors living in England

OpenAIRE

Joshi, D.; Meakin, R.

2017-01-01

OBJECTIVE: To explore the views and attitudes of Indians living in England on blood donation. BACKGROUND: In light of the predicted shortages in blood supply, it is vital to consider ways in which to maximise donation rates. These include addressing the issue of lower donation rates among ethnic minorities, including Indians. However research specifically among minority ethnicities in UK is sparse. SETTING: General practice in North London. PARTICIPANTS: A convenience ...

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Genetic population structure of the malaria vector Anopheles baimaii in north-east India using mitochondrial DNA.

Science.gov (United States)

Sarma, Devojit K; Prakash, Anil; O'Loughlin, Samantha M; Bhattacharyya, Dibya R; Mohapatra, Pradumnya K; Bhattacharjee, Kanta; Das, Kanika; Singh, Sweta; Sarma, Nilanju P; Ahmed, Gias U; Walton, Catherine; Mahanta, Jagadish

2012-03-20

Anopheles baimaii is a primary vector of human malaria in the forest settings of Southeast Asia including the north-eastern region of India. Here, the genetic population structure and the basic population genetic parameters of An. baimaii in north-east India were estimated using DNA sequences of the mitochondrial cytochrome oxidase sub unit II (COII) gene. Anopheles baimaii were collected from 26 geo-referenced locations across the seven north-east Indian states and the COII gene was sequenced from 176 individuals across these sites. Fifty-seven COII sequences of An. baimaii from six locations in Bangladesh, Myanmar and Thailand from a previous study were added to this dataset. Altogether, 233 sequences were grouped into eight population groups, to facilitate analyses of genetic diversity, population structure and population history. A star-shaped median joining haplotype network, unimodal mismatch distribution and significantly negative neutrality tests indicated population expansion in An. baimaii with the start of expansion estimated to be ~0.243 million years before present (MYBP) in north-east India. The populations of An. baimaii from north-east India had the highest haplotype and nucleotide diversity with all other populations having a subset of this diversity, likely as the result of range expansion from north-east India. The north-east Indian populations were genetically distinct from those in Bangladesh, Myanmar and Thailand, indicating that mountains, such as the Arakan mountain range between north-east India and Myanmar, are a significant barrier to gene flow. Within north-east India, there was no genetic differentiation among populations with the exception of the Central 2 population in the Barail hills area that was significantly differentiated from other populations. The high genetic distinctiveness of the Central 2 population in the Barail hills area of the north-east India should be confirmed and its epidemiological significance further

Genetic population structure of the malaria vector Anopheles baimaii in north-east India using mitochondrial DNA

Directory of Open Access Journals (Sweden)

Sarma Devojit K

2012-03-01

Full Text Available Abstract Background Anopheles baimaii is a primary vector of human malaria in the forest settings of Southeast Asia including the north-eastern region of India. Here, the genetic population structure and the basic population genetic parameters of An. baimaii in north-east India were estimated using DNA sequences of the mitochondrial cytochrome oxidase sub unit II (COII gene. Methods Anopheles baimaii were collected from 26 geo-referenced locations across the seven north-east Indian states and the COII gene was sequenced from 176 individuals across these sites. Fifty-seven COII sequences of An. baimaii from six locations in Bangladesh, Myanmar and Thailand from a previous study were added to this dataset. Altogether, 233 sequences were grouped into eight population groups, to facilitate analyses of genetic diversity, population structure and population history. Results A star-shaped median joining haplotype network, unimodal mismatch distribution and significantly negative neutrality tests indicated population expansion in An. baimaii with the start of expansion estimated to be ~0.243 million years before present (MYBP in north-east India. The populations of An. baimaii from north-east India had the highest haplotype and nucleotide diversity with all other populations having a subset of this diversity, likely as the result of range expansion from north-east India. The north-east Indian populations were genetically distinct from those in Bangladesh, Myanmar and Thailand, indicating that mountains, such as the Arakan mountain range between north-east India and Myanmar, are a significant barrier to gene flow. Within north-east India, there was no genetic differentiation among populations with the exception of the Central 2 population in the Barail hills area that was significantly differentiated from other populations. Conclusions The high genetic distinctiveness of the Central 2 population in the Barail hills area of the north-east India should be

Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

Directory of Open Access Journals (Sweden)

Diana Bancin

2015-03-01

Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

Congenital cataract screening

Directory of Open Access Journals (Sweden)

Zhale Rajavi

2016-01-01

Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

An atlast of XBT thermal structures and TOPEX/POSEIDON sea surface heights in the north Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Gopalakrishna, V.V.; Ali, M.M.; Araligidad, N.; Shenoi, S.S.C.; Shum, C.K.; Yi, Y.

the Indian XBT Program were used to plot the sub-surface thermal structures of the Indian Ocean for 1993 to 2003. Since these in situ measurements are just along the ship tracks, sea surface height observations from the TOPEX altimeter were also plotted over...

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

2003-01-01

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

Congenital hearing impairment

Energy Technology Data Exchange (ETDEWEB)

Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

2006-04-15

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hearing impairment

International Nuclear Information System (INIS)

Robson, Caroline D.

2006-01-01

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

Congenital rubella syndrome and delayed manifestations

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

INTELLECTUAL AND ACADEMIC PERFORMANCE OF CHILDREN WITH CONGENITAL HYPOTHYROIDISM IN RELATION TO TIME OF DIAGNOSIS

Directory of Open Access Journals (Sweden)

Madhava Vijaya Kumar

2016-12-01

Full Text Available BACKGROUND Context- Congenital hypothyroidism is an important cause of preventable mental retardation in children. Since, neonatal screening is not done routinely in India, many cases are diagnosed late. Earlier, the diagnosis and initiation of treatment, better will be the outcome. The aim of the study is to assess the effect of time of onset of treatment in intellectual and scholastic performances in children with congenital hypothyroidism. MATERIALS AND METHODS Children were classified into 3 groups. Group 1 were diagnosed and treatment initiated within one month of birth. Group 2, between 1 and 6 months and group 3 after 6 months. General intelligence and IQ were assessed by Malin’s intelligence scale for Indian children. Scholastic performance were evaluated by academic evaluation scale for slow learners and ADHD were diagnosed by DSM-IV criteria. Settings and Design- The study was done in the Paediatric Endocrinology Clinic of Institute of Maternal and Child Health, Department of Paediatrics, Government Medical College, Kozhikode. Study population included children of age group 6-9 years with congenital hypothyroidism. Statistical Methods Used- Statistical analysis was done with SPSS software version 16. The statistical analysis was done by ANOVA test. RESULTS IQ and intellectual outcomes were better in group 1 where treatment was initiated within one month. Similarly, poor academic abilities and increased incidence of ADHD were noted in children in whom diagnosis was made late. CONCLUSION Later the diagnosis more will be the intellectual and scholastic backwardness in children underscoring the importance of universal newborn screening.

Health in adults with congenital heart disease.

Science.gov (United States)

Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

2016-09-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

International Nuclear Information System (INIS)

Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

2013-01-01

Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

Association of MTHFR and PPARγ2 gene polymorphisms in relation to type 2 diabetes mellitus cases among north Indian population.

Science.gov (United States)

Raza, Syed Tasleem; Abbas, Shania; Ahmed, Faisal; Fatima, Jalees; Zaidi, Zeashan Haider; Mahdi, Farzana

2012-12-15

Type 2 diabetes mellitus is a multifactorial and polygenic disease, which is considered as a major life threatening problem all over the world. There has been a worldwide effort in the identification of susceptibility genes for type 2 diabetes mellitus and its complications. At present, adequate data is not available dealing with MTHFR (rs1801133) and PPARγ2 (rs1801282) gene polymorphisms and its association with type 2 diabetes mellitus cases among north Indian populations. Thus, we conceived the need for further studies to investigate MTHFR and PPARγ2 gene polymorphisms and their susceptibility to type 2 diabetes mellitus in north Indian population. In this study, a total 175 subjects including 87 type 2 diabetes mellitus cases and 88 controls were enrolled. MTHFR and PPARγ2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The MTHFR gene CC, CT, TT genotype frequencies obtained were 40%, 43%, and 17% in type 2 diabetes mellitus cases and 56%, 29%, and 15% in healthy controls respectively. The OR for CC was 0.54 (95%CI 0.29-0.98, P=0.041, χ(2)=4.18, power=0.98), for CT 1.76 (95%CI 0.94-3.30, P=0.07, χ(2)=3.2, power=0.96), and for TT 1.2 (95%CI 0.53-2.70, P=0.66, χ(2)=0.198, power=0.76). The PPARγ2 gene GG CG, CC genotype frequencies obtained were 28%, 41%, and 31% in cases and 40%, 39%, and 21% in healthy controls respectively. OR for GG was 0.58 (95%CI 0.30-1.09, P=0.08, χ(2)=2.9, power=0.96), for CG 1.12 (95%CI 0.61-2.05, P=0.71, χ(2)=0.137, power=0.778), and for CC 1.63 (95%CI 0.82-3.23, P=0.156, χ(2)=2.01, power=0.92). It might be recommended that MTHFR CC genotype seems to be a good marker for the early identification of population at risk of type 2 diabetes mellitus. While we have detected significant difference in allelic frequencies of PPARγ2 C (Proline) and G (Alanine), but at genotypic level significant difference was not detected in this case

Hip dysplasia and congenital hip dislocation

Energy Technology Data Exchange (ETDEWEB)

Lingg, G.; Nebel, G.; von Torklus, D.

1981-11-01

In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Pseudoamblyopia in Congenital Cyclotropia

Directory of Open Access Journals (Sweden)

Antonio Frattolillo

2017-01-01

Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

Congenital toxoplasmosis.

Science.gov (United States)

Kieffer, François; Wallon, Martine

2013-01-01

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

Radiographic observation of congenital diaphragmatic hernia

International Nuclear Information System (INIS)

Rhee, Chung Sik

1973-01-01

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

Radiographic observation of congenital diaphragmatic hernia

Energy Technology Data Exchange (ETDEWEB)

Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

1973-12-15

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

A new atlas of temperature and salinity for the North Indian Ocean

Indian Academy of Sciences (India)

The most used temperature and salinity climatology for the world ocean, including the Indian Ocean, is the World Ocean Atlas (WOA) (Antonov et al 2006, 2010; Locarnini et al 2006, 2010) because of the vast amount of data used in its preparation. The WOA climatology does not, however, include all the available ...

Etiological evaluation of primary congenital hypothyroidism cases.

Science.gov (United States)

Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

2017-06-01

Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Characterization of stem rust resistance gene Sr2 in Indian wheat ...

African Journals Online (AJOL)

SONY

2013-05-01

May 1, 2013 ... accelerating wheat production in the last forty years and ensured food security of the Nation. In the present investigation, Sr2 specific molecular markers were used to assess their efficacy for assessing the deployment of Sr2 gene in Indian wheat cultivars of highly productive north-west plains and stem rust ...

Congenital syphilis: literature review

Directory of Open Access Journals (Sweden)

Eduardo Chaida Sonda

2013-01-01

Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

Views and attitudes towards blood donation: a qualitative investigation of Indian non-donors living in England

OpenAIRE

Joshi, Dhaara; Meakin, Richard

2017-01-01

Objective To explore the views and attitudes of Indians living in England on blood donation. Background In light of the predicted shortages in blood supply, it is vital to consider ways in which to maximise donation rates. These include addressing the issue of lower donation rates among ethnic minorities, including Indians. However research specifically among minority ethnicities in UK is sparse. Setting General practice in North London. Participants A convenience sample of 12 non-donor India...

Leadership Preferences of Indian and Non-Indian Athletes.

Science.gov (United States)

Malloy, D. C.; Nilson, R. N.

1991-01-01

Among 86 Indian and non-Indian volleyball competitors, non-Indian players indicated significantly greater preferences for leadership that involved democratic behavior, autocratic behavior, or social support. Indians may adapt their behavior by participating in non-Indian games, without changing their traditional value orientations. Contains 22…

Differential Protein Expression in Congenital and Acquired Cholesteatomas.

Directory of Open Access Journals (Sweden)

Seung-Ho Shin

Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

2007-06-15

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Genetics of Congenital Heart Disease: Past and Present.

Science.gov (United States)

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Comorbid Conditions in Neonates With Congenital Heart Disease.

Science.gov (United States)

Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

A climatological model of North Indian Ocean tropical cyclone genesis, tracks and landfall

Science.gov (United States)

Wahiduzzaman, Mohammad; Oliver, Eric C. J.; Wotherspoon, Simon J.; Holbrook, Neil J.

2017-10-01

Extensive damage and loss of life can be caused by tropical cyclones (TCs) that make landfall. Modelling of TC landfall probability is beneficial to insurance/re-insurance companies, decision makers, government policy and planning, and residents in coastal areas. In this study, we develop a climatological model of tropical cyclone genesis, tracks and landfall for North Indian Ocean (NIO) rim countries based on kernel density estimation, a generalised additive model (GAM) including an Euler integration step, and landfall detection using a country mask approach. Using a 35-year record (1979-2013) of tropical cyclone track observations from the Joint Typhoon Warning Centre (part of the International Best Track Archive Climate Stewardship Version 6), the GAM is fitted to the observed cyclone track velocities as a smooth function of location in each season. The distribution of cyclone genesis points is approximated by kernel density estimation. The model simulated TCs are randomly selected from the fitted kernel (TC genesis), and the cyclone paths (TC tracks), represented by the GAM together with the application of stochastic innovations at each step, are simulated to generate a suite of NIO rim landfall statistics. Three hindcast validation methods are applied to evaluate the integrity of the model. First, leave-one-out cross validation is applied whereby the country of landfall is determined by the majority vote (considering the location by only highest percentage of landfall) from the simulated tracks. Second, the probability distribution of simulated landfall is evaluated against the observed landfall. Third, the distances between the point of observed landfall and simulated landfall are compared and quantified. Overall, the model shows very good cross-validated hindcast skill of modelled landfalling cyclones against observations in each of the NIO tropical cyclone seasons and for most NIO rim countries, with only a relatively small difference in the percentage of

Mediterranean climate change and Indian Ocean warming

International Nuclear Information System (INIS)

Hoerling, M.; Eischeid, J.; Hurrel, J.

2006-01-01

General circulation model (GCM) responses to 20. century changes in sea surface temperatures (SSTs) and greenhouse gases are diagnosed, with emphasis on their relationship to observed regional climate change over the Mediterranean region. A major question is whether the Mediterranean region's drying trend since 1950 can be understood as a consequence of the warming trend in tropical SSTs. We focus on the impact of Indian Ocean warming, which is itself the likely result of increasing greenhouse gases. It is discovered that a strong projection onto the positive polarity of the North Atlantic Oscillation (NAO) index characterizes the atmospheric response structure to the 1950-1999 warming of Indian Ocean SSTs. This influence appears to be robust in so far as it is reproduced in ensembles of experiments using three different GCMs. Both the equilibrium and transient responses to Indian Ocean warming are examined. Under each scenario, the latitude of prevailing mid latitude westerlies shifts poleward during the November-April period. The consequence is a drying of the Mediterranean region, whereas northern Europe and Scandinavia receive increased precipitation in concert with the poleward shift of storminess. The IPCC (TAR) 20. century coupled ocean-atmosphere simulations forced by observed greenhouse gas changes also yield a post-1950 drying trend over the Mediterranean. We argue that this feature of human-induced regional climate change is the outcome of a dynamical feedback, one involving Indian Ocean warming and a requisite adjustment of atmospheric circulation systems to such ocean warming

Mouthwatering but erosive? A preliminary assessment of the acidity of a basic sauce used in many Indian dishes.

Science.gov (United States)

Ghai, Nandini; Burke, F J Trevor

2012-12-01

The aim of this study was to assess whether some types of Indian cuisine may contain erosive components. Indian dishes were prepared by a previously published method and their pH measured using a pH probe. The results indicated: (i) that some components of Indian cooking, such as tomatoes and red chilli powder, had the potential to erode enamel; (ii) that the pH of some foods was reduced with increasing temperature; and (iii) that all the basic masalas made and tested had a pH of less than 4.5. Within the limitations of the study, it may be concluded that the basic sauce/masala used in north Indian dishes may have erosive potential. This information could be considered useful when advising patients who eat Indian curries about causes of acid erosion of their teeth.

Increasing incidence of Rocky Mountain spotted fever among the American Indian population in the United States.

Science.gov (United States)

Holman, Robert C; McQuiston, Jennifer H; Haberling, Dana L; Cheek, James E

2009-04-01

To examine trends of Rocky Mountain spotted fever (RMSF) incidence among American Indians compared with other race groups, a retrospective analysis of national RMSF surveillance data reported to the National Electronic Telecommunications System for Surveillance and the Tickborne Rickettsial Disease Case Report Forms system were used. The RMSF incidence for American Indians, which was comparable to those for other race groups during 1990-2000, increased at a disproportionate rate during 2001-2005. The average annual incidence of RMSF reported among American Indians for 2001-2005 was 16.8 per 1,000,000 persons compared with 4.2, 2.6, and 0.5 for white, black, and Asian/Pacific Islander persons, respectively. Most cases in American Indians were reported from Oklahoma (113.1 cases per 1,000,000), North Carolina (60.0), and Arizona (17.2). The incidence of RMSF increased dramatically among American Indians disproportionately to trends for other race groups. Education about tick-borne disease and prevention measures should be addressed for high-risk American Indian populations.

Genetics Home Reference: severe congenital neutropenia

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

Genetic Counseling for Congenital Heart Defects

Science.gov (United States)

... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

Genetics Home Reference: congenital dyserythropoietic anemia

Science.gov (United States)

... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

Water-Quality Monitoring and Biological Integrity Assessment in the Indian River Lagoon, Florida: Status, Trends, and Loadings (1988-1994).

Science.gov (United States)

Sigua; Steward; Tweedale

2000-02-01

/ The Indian River Lagoon (IRL) system that extends from Ponce DeLeon Inlet to Jupiter Inlet is comprised of three interconnected estuarine lagoons: the Mosquito Lagoon (ML), the Banana River Lagoon (BRL), and the Indian River Lagoon (subdivided into North Indian River Lagoon, NIRL and the South Indian River Lagoon, SIRL). The declines in both the areal coverage and species diversity of seagrass communities within the IRL system are believed to be due in part to continued degradation of water quality. Large inflows of phosphorus (P) and nitrogen (N) -laden storm-water from urban areas and agricultural land have been correlated with higher chlorophyll a production in the central, south central, and the south segments of the lagoon. In a system as large and complex as the lagoon, N and P limitations are potentially subject to significant spatial and temporal variability. Total Kjeldahl nitrogen (TN) was higher in the north (1.25 mg/liter) and lower in the south (0.89 mg/liter). The reverse pattern was observed for total P (TP), i.e., lowest in the north (0.03 mg/liter) and highest at the south (0.14 mg/liter) ends of the IRL. This increased P concentration in the SIRL appears to have a significantly large effect on chlorophyll a production compared with the other segments, as indicated by stepwise regression statistics. This relationship can be expressed as follows: South IRL [chlorophyll a] = -8.52 + 162.41 [orthophosphate] + 7.86 [total nitrogen] + 0.38 [turbidity]; R(2) = 0.98**.

Effect of coppicing height on the regeneration and productivity of certain firewood shrubs in alkaline soils of north Indian plains

Energy Technology Data Exchange (ETDEWEB)

Misra, P.N.; Tewari, S.K.; Singh, Dheer; Katiyar, R.S. [National Botanical Research Inst., Lucknow (India)

1995-12-31

Four shrubs, viz. Hibiscus tiliaceus, Leucaena leucocephala, Vitex negundo and Sesbania sesban, were evaluated for their performance as firewood crops in coppiced stands of varying cutting heights (15, 30 and 45 cm) in repeated annual harvests (4) on alkaline soils of the North Indian plains. The dry wood yield of Leucaena and Sesbania ranged between 22.9-42.6 and 9.9-18.0 tonnes ha{sup -1} year{sup -1}, respectively. Leucaena showed progressive increases in yield from coppiced stumps up to the 4th harvest while Sesbania showed a reduction after the third harvest mainly due to the high degeneration (60%) of coppiced stumps. Degeneration was low (< 10%) in Leucaena and Vitex. The coppicing heights generally did not show any significant effect on the growth and productivity. The number of coppice shoots per stump increased with stump height and production of coppice shoots was maximum in Vitex and minimum in Leucaena. The average diameter of coppice shoots tended to decrease with increasing coppicing height of the stumps. (author)

Prevalence of duodenal ulcer-promoting gene (dupA) of Helicobacter pylori in patients with duodenal ulcer in North Indian population.

Science.gov (United States)

Arachchi, H S Jayasinghe; Kalra, Vijay; Lal, Banwari; Bhatia, Vikram; Baba, C S; Chakravarthy, S; Rohatgi, S; Sarma, Priyangshu M; Mishra, V; Das, Bimal; Ahuja, Vineet

2007-12-01

The duodenal ulcer (DU)-promoting gene (dupA) of Helicobacter pylori has been identified as a novel virulent marker associated with an increased risk for DU. The presence or absence of dupA gene of H. pylori present in patients with DU and functional dyspepsia in North Indian population was studied by polymerase chain reaction (PCR) and hybridization analysis. One hundred and sixty-six patients (96 DU and 70 functional dyspepsia) were included in this study. In addition, sequence diversity of dupA gene of H. pylori found in these patients was analyzed by sequencing the PCR products jhp0917 and jhp0918 on both strands with appropriate primers. PCR and hybridization analyses indicated that dupA gene was present in 37.5% (36/96) of H. pylori strains isolated from DU patients and 22.86% (16/70) of functional dyspepsia patients (p dupA was significantly associated with the cagA-positive genotype (p dupA gene with DU in this population. The dupA gene can be considered as a novel virulent marker for DU in this population.

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

Congenital laryngeal anomalies,

Directory of Open Access Journals (Sweden)

Michael J. Rutter

2014-12-01

Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

Congenital hypothyroidism: insights into pathogenesis and treatment

OpenAIRE

Cherella, Christine E.; Wassner, Ari J.

2017-01-01

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

Exhumation history of the NW Indian Himalaya revealed by fission track and 40Ar/39Ar ages

Science.gov (United States)

Schlup, Micha; Steck, Albrecht; Carter, Andrew; Cosca, Michael; Epard, Jean-Luc; Hunziker, Johannes

2011-01-01

New fission track and Ar/Ar geochronological data provide time constraints on the exhumation history of the Himalayan nappes in the Mandi (Beas valley) — Tso Morari transect of the NW Indian Himalaya. Results from this and previous studies suggest that the SW-directed North Himalayan nappes were emplaced by detachment from the underthrusted upper Indian crust by 55 Ma and metamorphosed by ca. 48–40 Ma. The nappe stack was subsequently exhumed to shallow upper crustal depths (

Congenital rubella

Science.gov (United States)

... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

Adult Congenital Heart Disease: Scope of the Problem.

Science.gov (United States)

Mazor Dray, Efrat; Marelli, Ariane J

2015-11-01

This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

Science.gov (United States)

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Molecular and Genetic Studies of Congenital Myopathies

Science.gov (United States)

2018-03-21

Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

Profiles in congenital heart disease

International Nuclear Information System (INIS)

Freed, M.D.; Keane, J.F.

1986-01-01

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

Pulse and entrainment to non-isochronous auditory stimuli: the case of north Indian alap.

Directory of Open Access Journals (Sweden)

Udo Will

Full Text Available Pulse is often understood as a feature of a (quasi- isochronous event sequence that is picked up by an entrained subject. However, entrainment does not only occur between quasi-periodic rhythms. This paper demonstrates the expression of pulse by subjects listening to non-periodic musical stimuli and investigates the processes behind this behaviour. The stimuli are extracts from the introductory sections of North Indian (Hindustani classical music performances (alap, jor and jhala. The first of three experiments demonstrates regular motor responses to both irregular alap and more regular jor sections: responses to alap appear related to individual spontaneous tempi, while for jor they relate to the stimulus event rate. A second experiment investigated whether subjects respond to average periodicities of the alap section, and whether their responses show phase alignment to the musical events. In the third experiment we investigated responses to a broader sample of performances, testing their relationship to spontaneous tempo, and the effect of prior experience with this music. Our results suggest an entrainment model in which pulse is understood as the experience of one's internal periodicity: it is not necessarily linked to temporally regular, structured sensory input streams; it can arise spontaneously through the performance of repetitive motor actions, or on exposure to event sequences with rather irregular temporal structures. Greater regularity in the external event sequence leads to entrainment between motor responses and stimulus sequence, modifying subjects' internal periodicities in such a way that they are either identical or harmonically related to each other. This can be considered as the basis for shared (rhythmic experience and may be an important process supporting 'social' effects of temporally regular music.

Pulse and entrainment to non-isochronous auditory stimuli: the case of north Indian alap.

Science.gov (United States)

Will, Udo; Clayton, Martin; Wertheim, Ira; Leante, Laura; Berg, Eric

2015-01-01

Pulse is often understood as a feature of a (quasi-) isochronous event sequence that is picked up by an entrained subject. However, entrainment does not only occur between quasi-periodic rhythms. This paper demonstrates the expression of pulse by subjects listening to non-periodic musical stimuli and investigates the processes behind this behaviour. The stimuli are extracts from the introductory sections of North Indian (Hindustani) classical music performances (alap, jor and jhala). The first of three experiments demonstrates regular motor responses to both irregular alap and more regular jor sections: responses to alap appear related to individual spontaneous tempi, while for jor they relate to the stimulus event rate. A second experiment investigated whether subjects respond to average periodicities of the alap section, and whether their responses show phase alignment to the musical events. In the third experiment we investigated responses to a broader sample of performances, testing their relationship to spontaneous tempo, and the effect of prior experience with this music. Our results suggest an entrainment model in which pulse is understood as the experience of one's internal periodicity: it is not necessarily linked to temporally regular, structured sensory input streams; it can arise spontaneously through the performance of repetitive motor actions, or on exposure to event sequences with rather irregular temporal structures. Greater regularity in the external event sequence leads to entrainment between motor responses and stimulus sequence, modifying subjects' internal periodicities in such a way that they are either identical or harmonically related to each other. This can be considered as the basis for shared (rhythmic) experience and may be an important process supporting 'social' effects of temporally regular music.

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Association of glutathione S-transferase (GSTM1, T1 and P1 gene polymorphisms with type 2 diabetes mellitus in north Indian population

Directory of Open Access Journals (Sweden)

Bid H

2010-01-01

Full Text Available Background: Diabetes mellitus is associated with an increased production of reactive oxygen species (ROS and a reduction in antioxidant defense. The oxidative stress becomes evident as a result of accumulation of ROS in conditions of inflammation and Type 2 diabetes mellitus (T2DM. The genes involved in redox balance, which determines the susceptibility to T2DM remain unclear. In humans, the glutathione S-transferase (GST family comprises several classes of GST isozymes, the polymorphic variants of GSTM1, T1 and P1 genes result in decreased or loss of enzyme activity. Aims: The present study evaluated the effect of genetic polymorphisms of the GST gene family on the risk of developing T2DM in the North Indian population. Settings and Design: GSTM1, T1 and P1 polymorphisms were genotyped in 100 T2DM patients and 200 healthy controls from North India to analyze their association with T2DM susceptibility. Materials and Methods: Analysis of GSTM1 and GSTT1 gene polymorphisms was performed by multiplex polymerase chain reaction (PCR and GSTP1 by PCR-Restriction Fragment Length Polymorphism (RFLP. Statistical Analysis: Fisher′s exact test and χ2 statistics using SPSS software (Version-15.0. Results: We observed significant association of GSTM1 null (P=0.004, OR= 2.042, 95%CI= 1.254-3.325 and GSTP1 (I/V (P=0.001, OR= 0.397, 95%CI=0.225-0.701 with T2DM and no significant association with GSTT1 (P=0.493. The combined analysis of the three genotypes GSTM1 null, T1 present and P1 (I/I demonstrated an increase in T2DM risk (P= 0.005, OR= 2.431 95% CI=1.315-4.496. Conclusions: This is the first study showing the association of a combined effect of GSTM1, T1 and P1 genotypes in a representative cohort of Indian patients with T2DM. Since significant association was seen in GSTM1 null and GSTP1 (I/V and multiple association in GSTM1 null, T1 present and P1 (I/I, these polymorphisms can be screened in the population to determine the diabetic risk.

Congenital Heart Disease: Vascular Risk Factors and Medication

NARCIS (Netherlands)

H.P.M. Smedts (Dineke)

2011-01-01

textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

Genetics Home Reference: Fukuyama congenital muscular dystrophy

Science.gov (United States)

... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

[Sex differences in congenital heart disease].

Science.gov (United States)

Aubry, P; Demian, H

2016-12-01

Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

Symptoms of Autism among Children with Congenital Deafblindness

Science.gov (United States)

Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

Cyanotic congenital heart disease and atherosclerosis

DEFF Research Database (Denmark)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

2017-01-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

Sequential segmental classification of feline congenital heart disease.

Science.gov (United States)

Scansen, Brian A; Schneider, Matthias; Bonagura, John D

2015-12-01

Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

The impact of Indian Ocean high pressure system on rainfall and stream flow

International Nuclear Information System (INIS)

Rehman, S.; Nasir, H.; Zia, S.S.; Ansari, W.A.; Salam, K.; Tayyab, N.

2012-01-01

Centre of Action approach is very useful in getting insight of rainfall and stream flow variability of specific region. Hameed et al. showed that Inter-annual variability of Gulf Stream north wall is influenced by low Icelandic pressure system and has more statistically significant correlation than North Atlantic Oscillation (NAO) with longitude of Icelandic low. This study also aims to explore possible relationships between rainfall and stream flow in Collie river catchment in Southwest Western Australia (SWWA) with Indian Ocean high pressure dynamics. The relationship between rainfall and stream flow with Indian Ocean high pressure system have been investigated using correlation analysis for early winter season (MJJA), lag correlation for MJJA versus SOND rainfall and stream flow are also calculated and found significant at 95% confidence level. By investigating the relationship between COA indices with rainfall and stream flow over the period 1976-2008, significant correlations suggests that rainfall and stream flow in Collie river basin is strongly influenced by COA indices. Multiple correlations between rainfall and stream flow with Indian Ocean high pressure (IOHPS and IOHLN) is 0.7 and 0.6 respectively. Centers of Action (COA) indices explain 51% and 36% of rainfall and stream flow respectively. The correlation between rainfall and stream flow with IOHPS is -0.4 and -0.3 whereas, with IOHLN is -0.47 and -0.52 respectively. (author)

Impacts of increasing ozone on Indian plants

International Nuclear Information System (INIS)

Oksanen, E.; Pandey, V.; Pandey, A.K.; Keski-Saari, S.; Kontunen-Soppela, S.; Sharma, C.

2013-01-01

Increasing anthropogenic and biogenic emissions of precursor compounds have led to high tropospheric ozone concentrations in India particularly in Indo-Gangetic Plains, which is the most fertile and cultivated area of this rapidly developing country. Current ozone risk models, based on European and North American data, provide inaccurate estimations for crop losses in India. During the past decade, several ozone experiments have been conducted with the most important Indian crop species (e.g. wheat, rice, mustard, mung bean). Experimental work started in natural field conditions around Varanasi area in early 2000's, and the use of open top chambers and EDU (ethylene diurea) applications has now facilitated more advanced studies e.g. for intra-species sensitivity screening and mechanisms of tolerance. In this review, we identify and discuss the most important gaps of knowledge and future needs of action, e.g. more systematic nationwide monitoring for precursor and ozone formation over Indian region. -- Tropospheric ozone is an increasing threat to food production in India

Congenital asymmetric crying face: a case report

Directory of Open Access Journals (Sweden)

Semra Kara

2011-12-01

Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

76 FR 58533 - Notice of Filing of Plats of Survey; North Dakota

Science.gov (United States)

2011-09-21

...] Notice of Filing of Plats of Survey; North Dakota AGENCY: Bureau of Land Management, Interior. ACTION..., Bureau of Indian Affairs, Great Plains Region, Aberdeen, South Dakota and was necessary to determine... Dakota T. 152 N., R. 65 W. The plat, in two sheets, representing the dependent resurvey of a portion of...

76 FR 44946 - Notice of Filing of Plats of Survey; North Dakota

Science.gov (United States)

2011-07-27

...] Notice of Filing of Plats of Survey; North Dakota AGENCY: Bureau of Land Management, Interior. ACTION..., Bureau of Indian Affairs, Great Plains Region, Aberdeen, South Dakota and was necessary to determine... Dakota T. 152 N., R. 64 W. The plat, in one sheet, representing the dependent resurvey of a portion of...

Congenital Syphilis Masquerading as Leukemia

OpenAIRE

Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

2017-01-01

As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

Angle closure glaucoma in congenital ectropion uvea

Directory of Open Access Journals (Sweden)

Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

Effects of controlled school-based multi-component model of nutrition and lifestyle interventions on behavior modification, anthropometry and metabolic risk profile of urban Asian Indian adolescents in North India.

Science.gov (United States)

Singhal, N; Misra, A; Shah, P; Gulati, S

2010-04-01

To study the effectiveness of a multi-component intervention model of nutrition and lifestyle education on behavior modification, anthropometry and metabolic risk profile of urban Asian-Indian adolescents in North India. Two schools matched for student strength and middle socioeconomic strata were randomly allocated to intervention and control group. Changes in nutrition-related knowledge, attitude, lifestyle practices, food frequency and body image of eleventh-grade students (15-17 years) in both schools were tested using a validated questionnaire. Anthropometric and biochemical measurements were made using standard methods. Segmental body composition analysis was carried out using an 8-electrode multifrequency bioelectrical impedance method of body fat estimation. At 6 months follow-up, significant improvement in several domains of knowledge was observed in intervention children (n=99; males=60; females=39) as compared with control school children (n=102; males=61; females=41). In the intervention group, significantly lower proportion of children consumed aerated drinks (15.1%; Phabits and lifestyle practices, and resulted in beneficial changes in anthropometric and biochemical profiles of the Asian Indian adolescents. This model should be applied on countrywide basis to prevent obesity and diabetes.

Heart transplantation in adults with congenital heart disease.

Science.gov (United States)

Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

2017-05-01

With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital scoliosis: an up-to-date

Science.gov (United States)

Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

2015-01-01

Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

Familial aggregation of congenital hydrocephalus in a nationwide cohort

DEFF Research Database (Denmark)

Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

2012-01-01

The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

Congenital anomalies in Primorsky region.

Science.gov (United States)

Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

Indian sports nicknames/logos: affective difference between American Indian and non-Indian college students.

Science.gov (United States)

LaRocque, Angela R; McDonald, J Douglas; Weatherly, Jeffrey N; Ferraro, F Richard

2011-01-01

The use of American Indian (AI) words and images in athletic teams' nicknames, logos, and mascots remains a controversial issue. This study investigated the emotional impact of the University of North Dakota's "Fighting Sioux" nickname/logo on 33 AI and 36 majority culture (MC) students enrolled at the university. Participants completed the Multiple Affect Adjective Checklist-Revised (MAACL-R) before viewing two slide presentations of Fighting Sioux-related images: one neutral (i.e., non-controversial) and one controversial. Participants completed the MAACL-R after each presentation. They also completed the Nickname and Logo Distress Scale, and AI participants completed the Northern Plains Biculturalism Inventory to assess their degree of cultural orientation. Results showed that AIs experienced higher negative affect following both slide presentations than did MC participants. MC participants' affect was only changed following the controversial slide presentation. The findings suggest AI students may experience significantly higher levels of psychological distress when viewing even neutral images of AI nicknames/logos.

78 FR 9729 - Eastern States: Filing of Plat of Survey, North Carolina

Science.gov (United States)

2013-02-11

... DEPARTMENT OF THE INTERIOR Bureau of Land Management [LLES956000-L14200000-BJ0000] Eastern States..., on pages 318 through 319 a notice entitled ``Eastern States: Filing of Plats of Survey''. In said... Boundary, lands held in trust for the Eastern Band of Cherokee Indians, Swain County, in the State of North...

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Nutrient characteristics of the water masses and their seasonal variability in the eastern equatorial Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Sardessai, S.; Shetye, S.; Maya, M.V.; Mangala, K.R.; PrasannaKumar, S.

. (Position of Fig 1.) 3. Results and Discussion 3.1. Water masses in the area of observation You and Tomczak (1993) has reviewed the water masses in the Indian Ocean identified by the earlier workers ( Sverdrup et al. 1942; Mamalev, 1975; and Shcherbinin... at 200 m at 5° S in the meridional region of our observations and flows down to 800 m to the north and termed as Indian central water (ICW) (You and Tomczak, 1993). (position of Fig.2) 3.2. Seasonal variability of water masses The seasonal...

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

2007-01-01

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

Science.gov (United States)

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-05-01

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Congenital segmental dilatation of the colon

African Journals Online (AJOL)

Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

NARCIS (Netherlands)

Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

2011-01-01

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

Congenital tumors of the central nervous system

International Nuclear Information System (INIS)

Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

2010-01-01

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

A comparison of antenatal classifications of 'overweight' and 'obesity' prevalence between white British, Indian, Pakistani and Bangladeshi pregnant women in England; analysis of retrospective data.

Science.gov (United States)

Garcia, Rebecca; Ali, Nasreen; Guppy, Andy; Griffiths, Malcolm; Randhawa, Gurch

2017-04-11

Maternal obesity increases women's risk of poor birth outcomes, and statistics show that Pakistani and Bangladeshi women (who are born or settled) in the UK experience higher rates of perinatal mortality and congenital anomalies than white British or white Other women. This study compares the prevalence of maternal obesity in Indian, Pakistani, Bangladeshi and white British women using standard and Asian-specific BMI metrics. Retrospective cross-sectional analysis using routinely recorded secondary data in Ciconia Maternity information System (CMiS), between 2008 and 2013. Mothers (n = 15,205) whose ethnicity was recorded as white British, Bangladeshi, Pakistani or Indian. Adjusted standardised residuals and Pearson Chi-square. Percentage of mothers stratified by ethnicity (Indian, Pakistani, Bangladeshi and white British) who are classified as overweight or obese using standard and revised World Health Organisation BMI thresholds. Compared to standard BMI thresholds, using the revised BMI threshold resulted in a higher prevalence of obesity: 22.8% of Indian and 24.3% of Bangladeshi and 32.3% of Pakistani women. Pearson Chi-square confirmed that significantly more Pakistani women were classified as 'obese' compared with white British, Indian or Bangladeshi women (χ 2  = 499,88 df = 9, p women stratified by maternal ethnicity of white British, Indian, Pakistani and Bangladeshi. Using revised anthropometric measures in Indian, Pakistani and Bangladeshi women has clinical implications for identifying risks associated with obesity and increased complications in pregnancy.

Partial pressure (or fugacity) of carbon dioxide, salinity and other variables collected from Surface underway observations using Carbon dioxide (CO2) gas analyzer, Shower head chamber equilibrator for autonomous carbon dioxide (CO2) measurement and other instruments from NATHANIEL B. PALMER in the Indian Ocean, North Pacific Ocean and others from 2000-02-15 to 2001-01-25 (NCEI Accession 0157250)

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — NCEI Accession 0157250 includes Surface underway, chemical, meteorological and physical data collected from NATHANIEL B. PALMER in the Indian Ocean, North Pacific...

Japanese family with congenital factor VII deficiency.

Science.gov (United States)

Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

2015-10-01

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

Polymicrogyria and Congenital Parvovirus B19 Infection

Directory of Open Access Journals (Sweden)

Grant S. Schulert

2011-12-01

Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

Science.gov (United States)

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Association of ECRG2 TCA short tandem repeat polymorphism with the risk of oesophageal cancer in a North Indian population.

Science.gov (United States)

Jain, Meenu; Kumar, Shaleen; Ghoshal, Uday C; Mittal, Balraj

2008-06-01

Oesophageal cancer-related gene (ECRG2) is a tumour suppressor gene and it has been suggested that a triplet TCA short tandem repeat (STR) in the noncoding region of exon 4 plays a role in genetic susceptibility to oesophageal cancer. In the present study, ECRG2 STR polymorphism was studied in 134 patients with oesophageal cancer and 194 controls, using PCR and polyacrylamide gel electrophoresis. The results showed a higher frequency of the ECRG2 TCA (3)/TCA (4) genotype in cancer patients than in controls (odds ratio 2.6, 95% CI 1.0-6.4, p = 0.03). The association of the ECRG2 TCA (3)/TCA (4) genotype with clinical characteristics showed an increased risk for squamous cell histology (2.8, 95% CI 1.1-7.1, p = 0.03), while no association with tumor location or lymph node involvement was observed. Interaction of tobacco, alcohol and occupational exposure with the ECRG2 genotypes did not show modulation of risk. In conclusion, the ECRG2 TCA (3)/TCA (4) genotype is associated with the risk of oesophageal carcinoma in a North Indian population.

Extra-cardiac manifestations of adult congenital heart disease.

Science.gov (United States)

Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

2016-10-01

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

Images of American Indians in Environmental Education: Anthropological Reflections on the Politics and History of Cultural Representation

Science.gov (United States)

Willow, Anna J.

2010-01-01

For hundreds of years, North America's colonizers worked systematically to eradicate the indigenous cultural practices, religious beliefs, and autonomous political systems many venerate. This article illustrates that imperialist nostalgia underlies and directs portrayals of American Indians in environmental education today. Whether unconsciously…

Newborn screening for congenital hypothyroidism in Henan province, China.

Science.gov (United States)

Zhao, De-Hua; Shen, Yong; Gong, Jiao-Mei; Meng, Yun; Su, Li; Zhang, Xia

2016-01-15

Congenital hypothyroidism is the most common congenital endocrine disorder. The study aimed to determine the congenital hypothyroidism incidence by newborn screening programs in Henan Province, China. The screening programs for congenital hypothyroidism are based on the measurement of TSH in dried blood spots. The TSH concentration was measured in the dry blood spot specimen using a DELFIA fluoroimmunoassay. The TSH cutoff concentration was 8mU/l. The total coverage and the incidence of congenital hypothyroidism were 24.85% (5,142,148/20,694,441) and 0.37‰ (1992/5,142,148), respectively. The coverage and the incidence of CH were only 0.58% (4526/784,580) and 0.22‰ (1/4526) in 1997, respectively. However, the coverage and the incidence of CH were increased to 74.67% (1,203,278/1,611,582) and 0.32‰ (389/1,203,278). There were no significant differences in the number of congenital hypothyroidism between males and females (P>0.05). The number of congenital hypothyroidism was increased year after year. The newborn screening program for CH is successful and quite effective. Copyright © 2015 Elsevier B.V. All rights reserved.

Multi year changes of Aerosol Optical Depth in the monsoon region of the Indian Ocean since 1986 as seen in the AVHRR and TOMS data

Directory of Open Access Journals (Sweden)

J. P. George

2008-02-01

Full Text Available Aerosol Optical Depth (AOD data based on AVHRR and TOMS was analyzed to find out the changes in the Indian Ocean from 1981 to 2004. Four regions covering Indian Ocean north of 10° S were studied in detail. The results strongly suggest that the mean value of AOD in these regions decreased from 1986–1990 to 1995–1999. The Arabian Sea and Bay of Bengal show increase thereafter whereas in the equatorial part it decreased further, during 2000–2004. The drop in AOD from the first to second period is evident in AVHRR and TOMS in the case of the Arabian Sea (North West Indian Ocean. The decrease in this case is prominent in summer. These results in general agree with the recently reported global decrease in AOD, "global brightening" and also the reversal of trend in some of the anthropogenic emissions.

Congenital imprinting disorders

DEFF Research Database (Denmark)

Eggermann, Thomas; Netchine, Irène; Temple, I Karen

2015-01-01

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

Congenital tumors of the central nervous system

Energy Technology Data Exchange (ETDEWEB)

Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

2010-06-15

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

CCT and sonographic findings in congenital craniopharyngioma

Energy Technology Data Exchange (ETDEWEB)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-11-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature.

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Renal anomalies in congenital heart disease

International Nuclear Information System (INIS)

Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

1987-01-01

In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

Congenital maxillary double lip

Directory of Open Access Journals (Sweden)

Dinesh Singh Chauhan

2012-01-01

Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

Epidemiology of congenital diaphragmatic hernia in Europe

DEFF Research Database (Denmark)

McGivern, Mark R.; Best, Kate E.; Rankin, Judith

2015-01-01

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

CCT and sonographic findings in congenital craniopharyngioma

International Nuclear Information System (INIS)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-01-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature. (orig.)

Role of MMP-3 and MMP-9 and their haplotypes in risk of bladder cancer in North Indian cohort.

Science.gov (United States)

Srivastava, Priyanka; Mandhani, Anil; Kapoor, Rakesh; Mittal, Rama D

2010-11-01

Matrix metalloproteinases (MMPs) play critical roles in cancer development and progression. Nonsynonymous single nucleotide polymorphisms (SNPs) in functional domain of MMP-3 and MMP-9 contribute appreciably to cancer predisposition and aggression. To test this proposition we examined whether six SNPs of the MMP-3 and MMP-9 genes are associated with risk of bladder cancer (BC) in a North Indian population. Six SNPs of MMP-3 and MMP-9 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a case-control study including 200 BC patients and 200 age/gender/ethnicity-matched controls. Increased risk for BC susceptibility was observed in MMP-3 (1171) 5A/5A [P = 0.022; odds ratio (OR), 3.46; 95% confidence interval (CI), 1.20-9.98], MMP-9 (Q279R) QQ (P = 0.048; OR, 1.92; 95%CI, 1.01-3.66), MMP-9 (P574R) PR (P BCG)-treated non-muscle-invasive BC (NMIBC) patients (log-rank P = 0.025). Our data suggested that MMP-3-1171 5A/5A and MMP-9 (Q279R) QQ, MMP-9 (P574R) PR, PR + RR, and R allele are associated with high risk of BC.

Prediction of tropical cyclone over North Indian Ocean using WRF model: sensitivity to scatterometer winds, ATOVS and ATMS radiances

KAUST Repository

Dodla, Venkata B.

2016-05-03

Tropical cyclone prediction, in terms of intensification and movement, is important for disaster management and mitigation. Hitherto, research studies were focused on this issue that lead to improvement in numerical models, initial data with data assimilation, physical parameterizations and application of ensemble prediction. Weather Research and Forecasting (WRF) model is the state-of-art model for cyclone prediction. In the present study, prediction of tropical cyclone (Phailin, 2013) that formed in the North Indian Ocean (NIO) with and without data assimilation using WRF model has been made to assess impacts of data assimilation. WRF model was designed to have nested two domains of 15 and 5 km resolutions. In the present study, numerical experiments are made without and with the assimilation of scatterometer winds, and radiances from ATOVS and ATMS. The model performance was assessed in respect to the movement and intensification of cyclone. ATOVS data assimilation experiment had produced the best prediction with least errors less than 100 km up to 60 hours and producing pre-deepening and deepening periods accurately. The Control and SCAT wind assimilation experiments have shown good track but the errors were 150-200 km and gradual deepening from the beginning itself instead of sudden deepening.

Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

Science.gov (United States)

Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

2015-11-01

Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Radiocarbon Content of Dissolved Organic Carbon in the South Indian Ocean

Science.gov (United States)

Bercovici, S. K.; McNichol, A. P.; Xu, L.; Hansell, D. A.

2018-01-01

We report four profiles of the radiocarbon content of dissolved organic carbon (DOC) spanning the South Indian Ocean (SIO), ranging from the Polar Front (56°S) to the subtropics (29°S). Surface waters held mean DOC Δ14C values of -426 ± 6‰ ( 4,400 14C years) at the Polar Front and DOC Δ14C values of -252 ± 22‰ ( 2,000 14C years) in the subtropics. At depth, Circumpolar Deep Waters held DOC Δ14C values of -491 ± 13‰ ( 5,400 years), while values in Indian Deep Water were more depleted, holding DOC Δ14C values of -503 ± 8‰ ( 5,600 14C years). High-salinity North Atlantic Deep Water intruding into the deep SIO had a distinctly less depleted DOC Δ14C value of -481 ± 8‰ ( 5,100 14C years). We use multiple linear regression to assess the dynamics of DOC Δ14C values in the deep Indian Ocean, finding that their distribution is characteristic of water masses in that region.

Congenital heart defects in children with oral clefts

Directory of Open Access Journals (Sweden)

Nahvi H.

2007-09-01

Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

Magnetic resonance imaging of congenital heart disease

International Nuclear Information System (INIS)

Fletcher, B.D.; Jacobstein, M.D.

1988-01-01

Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

International Nuclear Information System (INIS)

Sudheer, K.R.; Jaikrishan, G.; Andrews, V.J.; Koya, P.K.M.; Seshadri, M.; Jagadeesan, C.K.; Madhusoodhanan, M.

2012-01-01

Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

A rare combination: congenital factor VII deficiency with Chiari malformation.

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

Towards understanding the low prevalence of Helicobacter pylori in Malays: genetic variants among Helicobacter pylori-negative ethnic Malays in the north-eastern region of Peninsular Malaysia and Han Chinese and South Indians.

Science.gov (United States)

Maran, Sathiya; Lee, Yeong Yeh; Xu, Shu Hua; Raj, Mahendra Sundramoorthy; Abdul Majid, Noorizan; Choo, Keng Ee; Zilfalil, Bin Alwi; Graham, David Y

2013-04-01

To identify gene polymorphisms that differ between Malays, Han Chinese and South Indians, and to identify candidate genes for the investigation of their role in protecting Malays from Helicobacter pylori (H. pylori) infection. Malay participants born and residing in Kelantan with a documented absence of H. pylori infection were studied. Venous blood was used for genotyping using the Affymetrix 50K Xba I kit. CEL files from 141 Han Chinese and 76 South Indians were analyzed to compare their allele frequency with that of the Malays using fixation index (FST ) calculation. The single nucleotide polymorphisms (SNPs) with the highest allele frequency (outliers) were then examined for their functional characteristics using F-SNP software and the Entrez Gene database. In all, 37 Malays were enrolled in the study; of whom 7 were excluded for low genotyping call rates. The average FST estimated from the genome-wide data were 0.038 (Malays in Kelantan vs the South Indians), 0.015 (Malays in Kelantan vs Han Chinese) and 0.066 (Han Chinese vs South Indians), respectively. The outlier gene variants present in Malays with functional characteristics were C7orf10 (FST  0.29988), TSTD2 (FST  0.43278), SMG7 (FST  0.29877) and XPA (FST  0.43393 and 0.43644). Genetic variants possibly related to protection against H. pylori infection in ethnic Malays from the north-eastern region of Peninsular Malaysia were identified for testing in subsequent trials among infected and uninfected Malays. © 2012 The Authors. Journal of Digestive Diseases © 2012 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

Increased arterial stiffness in children with congenital heart disease.

Science.gov (United States)

Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

2018-01-01

Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

2016-01-01

Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

Introduction to the Congenital Heart Defects: Anatomy of the Conduction System.

Science.gov (United States)

Moore, Jeremy P; Aboulhosn, Jamil A

2017-06-01

The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Comparison between the incidence of right and left sided congenital torticollis

International Nuclear Information System (INIS)

Aslam, S.; Bashir, M.S.; Hussain, S.I.

2013-01-01

Congenital torticollis is an intriguing condition of unknown origin, characterized by unilateral shortening and tightness of the sternocleidomastoid muscle. Patients usually present with head tilt, facial asymmetry and plagiocephaly. A sternomastoid mass or tumor may or may not be clinically apparent. Untreated, cervical function and facial cosmesis may be severely compromised. Objective: My study is aimed at establishing a comparison between the incidence of right versus left sided congenital torticollis. Method: This observational study included 30 patients of congenital torticollis that completed the questionnaire. The data was collected from patients coming to the Physiotherapy and Orthopedic departments of Children Hospital, Lahore. Results: Results showed that right side was involved in 19 (63.3%) patients and left side was involved in 11 (36.7%) patients. Out of 30 patients, 14 (46.7%) were male, of which 8 had right sided congenital torticollis and 6 had left sided congenital torticollis, and 16 (53.3%) were female, of which right sided congenital torticollis and 5 had left sided congenital torticollis. Conclusion: Hence it is concluded that incidence of right sided congenital torticollis is more common than left sided congenital torticollis. The incidence of con-genital torticollis is higher in females than in males. (author)

CT appearance of congenital defect resembling the Hangman's fracture

International Nuclear Information System (INIS)

Williams, J.P. III; Baker, D.H.; Miller, W.A.

1999-01-01

Purpose. Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. Methods. We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. Results. The CT demonstrated an atypical appearance of a congenital defect. Conclusion. This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described. (orig.)

Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

OpenAIRE

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

The changing epidemiology of congenital heart disease

NARCIS (Netherlands)

van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

2011-01-01

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

P450 Pharmacogenetics in Indigenous North American Populations

Directory of Open Access Journals (Sweden)

Lindsay M. Henderson

2018-02-01

Full Text Available Indigenous North American populations, including American Indian and Alaska Native peoples in the United States, the First Nations, Métis and Inuit peoples in Canada and Amerindians in Mexico, are historically under-represented in biomedical research, including genomic research on drug disposition and response. Without adequate representation in pharmacogenetic studies establishing genotype-phenotype relationships, Indigenous populations may not benefit fully from new innovations in precision medicine testing to tailor and improve the safety and efficacy of drug treatment, resulting in health care disparities. The purpose of this review is to summarize and evaluate what is currently known about cytochrome P450 genetic variation in Indigenous populations in North America and to highlight the importance of including these groups in future pharmacogenetic studies for implementation of personalized drug therapy.

Clustering Indian Ocean Tropical Cyclone Tracks by the Standard Deviational Ellipse

Directory of Open Access Journals (Sweden)

Md. Shahinoor Rahman

2018-05-01

Full Text Available The standard deviational ellipse is useful to analyze the shape and the length of a tropical cyclone (TC track. Cyclone intensity at each six-hour position is used as the weight at that location. Only named cyclones in the Indian Ocean since 1981 are considered for this study. The K-means clustering algorithm is used to cluster Indian Ocean cyclones based on the five parameters: x-y coordinates of the mean center, variances along zonal and meridional directions, and covariance between zonal and meridional locations of the cyclone track. Four clusters are identified across the Indian Ocean; among them, only one cluster is in the North Indian Ocean (NIO and the rest of them are in the South Indian Ocean (SIO. Other characteristics associated with each cluster, such as wind speed, lifespan, track length, track orientation, seasonality, landfall, category during landfall, total accumulated cyclone energy (ACE, and cyclone trend, are analyzed and discussed. Cyclone frequency and energy of Cluster 4 (in the NIO have been following a linear increasing trend. Cluster 4 also has a higher number of landfall cyclones compared to other clusters. Cluster 2, located in the middle of the SIO, is characterized by the long track, high intensity, long lifespan, and high accumulated energy. Sea surface temperature (SST and outgoing longwave radiation (OLR associated with genesis of TCs are also examined in each cluster. Cyclone genesis is co-located with the negative OLR anomaly and the positive SST anomaly. Localized SST anomalies are associated with clusters in the SIO; however, TC geneses of Cluster 4 are associated with SSTA all over the Indian Ocean (IO.

Congenital neutropenia: diagnosis, molecular bases and patient management

Directory of Open Access Journals (Sweden)

Chantelot Christine

2011-05-01

Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

MR imaging of congenital heart disease

International Nuclear Information System (INIS)

Kersting-Sommerhoff, B.A.; Diethelm, L.; Teitel, D.F.; Sommerhoff, C.P.; Higgins, C.B.

1988-01-01

Sensitivity and specificity of MR imaging for the evaluation of congenital heart disease was assessed in 51 patients (31 male and 20 female, aged 3-69 years), with a total of 115 congenital heart lesions. The true diagnosis was established by angiocardiography, catheterization, or surgery. Sensitivity at a specificity level of 90% was determined by means of receiver operating characteristic curves for great vessel relationships (100%), thoracic aorta anomalies (94%), atrial (91%) and ventricular (100%) septal defects, visceroatrial situs (100%), loop (100%), right ventricular outflow obstructions (95%), aortic valve (52%), mitral valve (62%), and tricuspid valve (76%). Spin-echo MR imaging is a reliable method for the noninvasive evaluation of congenital heart disease but is limited in the assessment of some valvular anomalies

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

International Nuclear Information System (INIS)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M.

2007-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

Energy Technology Data Exchange (ETDEWEB)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M. [Pusan National University Hospital, Pusan (Korea, Republic of)

2007-07-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography.

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

Health in adults with congenital heart disease

NARCIS (Netherlands)

Cuypers, Judith A. A. E.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

2016-01-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many

Cardiovascular magnetic resonance in congenital heart disease

International Nuclear Information System (INIS)

Cazacu, A.; Ciubotaru, A.

2010-01-01

The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

An Insight to the Structure of the North East Indian Retail Sector

OpenAIRE

Hazarika, Bhabesh

2015-01-01

Retail trade plays a major role in all economies all over the world. The performance of the sector has important implications towards the economic development of a country. Towards the end of 2008-09, while the world economy got shrank, the Indian economy was not much hampered due to its strong consumer demand. Retail demand,, bar some exceptions, has proven to be more resilient than that was expected for many emerging countries during the economic downturn of 2008-09. In India, the concept a...

The heart: Congenital disease

International Nuclear Information System (INIS)

Higgins, C.B.

1987-01-01

The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

Frequency of Congenital Cardiac Malformations in the Neonates with Congenital Hypothyroidism

Directory of Open Access Journals (Sweden)

yazdan ghandi

2018-05-01

Full Text Available Background: Congenital hypothyroidism (CH is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥10 mlU/ml and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life.Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43.04% and 45 males (53.96%, and the control group consisted of 43 females (54.43% and 36 males (45.57%. The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants with the prevalence of 22.7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1.3%, eight infants had atrial septal defect (10.1%, three infants had patent ductus arteriosus (3.8%, three neonates had endocardial cushion defect (3.8%, two neonates had pulmonary stenosis (2.5%, and one infant had dilated cardiomyopathy (1.3%. Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3 had Down syndrome, and no significant association was observed between TSH and thyroxine (T4 in the presence of CHD.Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Science.gov (United States)

Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

1983-06-01

Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

Magnetic resonance imaging in congenital superior oblique palsy

International Nuclear Information System (INIS)

Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

1996-01-01

MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

Inter-annual variability of sea surface temperature, wind speed and sea surface height anomaly over the tropical Indian Ocean

Digital Repository Service at National Institute of Oceanography (India)

Muraleedharan, P.M.; Pankajakshan, T.; Sathe, P.V.

Being land-locked at the north, the Indian Ocean and its surrounding atmosphere behave in such a way that the ocean-atmosphere interaction over this domain is different from that over the other oceans, exhibiting a peculiar dynamics. The sparse data...

Prenatal education for congenital toxoplasmosis.

Science.gov (United States)

Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

2015-10-23

Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

Congenital anophthalmia: current concepts in management.

Science.gov (United States)

Quaranta-Leoni, Francesco M

2011-09-01

The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. This study highlights the most recent advances for the treatment of congenital anophthalmia based on personal experience and the review of recent literature. Hydrogel socket expanders may be positioned as an out-patient procedure with topical anaesthesia, using cyanoacrylate glue as opposed to temporary tarsorraphy. Increased orbital volume has been confirmed by computed tomography (CT) scan or magnetic resonance imaging (MRI) following early dermis-fat graft in children with congenital anophthalmia. An orbital tissue expander made of an inflatable silicone globe sliding on a titanium T-plate and secured to the lateral orbital rim appears to be effective to stimulate orbital bone growth and development. Congenital anophthalmia has a complex cause with both genetic and environmental factors involved. The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible. Socket expansion with self-inflating expanders is a useful technique, although custom-made conformers may produce similar results. Dermis-fat grafts are another reasonable option as an orbital implant, following adequate lid and socket expansion.

Decompression syndrome (Caisson disease) in an Indian diver.

Science.gov (United States)

Phatak, Uday A; David, Eric J; Kulkarni, Pravin M

2010-07-01

Acute decompression syndrome (Caisson's disease) is an acute neurological emergency in divers. It is caused due to release of nitrogen gas bubbles that impinge the blood vessels of the spinal cord and brain and result in severe neurodeficit. There are very few case reports in Indian literature. There are multiple factors in the pathogenesis of Acute decompression syndrome (Caisson's disease) such as health problems in divers (respiratory problems or congenital heart diseases like atrial septal defect, patent ductus arteriosus etc), speed of ascent from the depth and habits like smoking that render divers susceptible for such neurological emergency. Usually, immediate diagnosis of such a condition with MRI is not possible in hospitals in the Coastal border. Even though, MRI is performed, it has very low specificity and sensitivity. Facilities like hyperbaric oxygen treatment are virtually non-existent in these hospitals. Therefore, proper education of the divers and appropriate preventive measures in professional or recreational divers is recommended.

Decompression syndrome (Caisson disease in an Indian diver

Directory of Open Access Journals (Sweden)

Phatak Uday

2010-01-01

Full Text Available Acute decompression syndrome (Caisson′s disease is an acute neurological emergency in divers. It is caused due to release of nitrogen gas bubbles that impinge the blood vessels of the spinal cord and brain and result in severe neurodeficit. There are very few case reports in Indian literature. There are multiple factors in the pathogenesis of Acute decompression syndrome (Caisson′s disease such as health problems in divers (respiratory problems or congenital heart diseases like atrial septal defect, patent ductus arteriosus etc, speed of ascent from the depth and habits like smoking that render divers susceptible for such neurological emergency. Usually, immediate diagnosis of such a condition with MRI is not possible in hospitals in the Coastal border. Even though, MRI is performed, it has very low specificity and sensitivity. Facilities like hyperbaric oxygen treatment are virtually non-existent in these hospitals. Therefore, proper education of the divers and appropriate preventive measures in professional or recreational divers is recommended.

Genetics Home Reference: congenital central hypoventilation syndrome

Science.gov (United States)

... Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr ...

Optimization of physical rehabilitation in congenital clubfoot

Directory of Open Access Journals (Sweden)

M.L. Golovakha

2013-09-01

Full Text Available The aim of the study was to improve the results of treatment of children with typical form of congenital clubfoot by optimizing of physical rehabilitation. The study included the following objectives: to make the algorithm work with the child, to justify the basis of physical rehabilitation, to study its effects, to develop a framework of implementation and optimization of the physical rehabilitation of children with congenital clubfoot. In the course of the study were 62 children involved with the typical form of congenital clubfoot: the main group (n = 42 and control group (n = 42. Age children from 4 years to 7 years. Physical rehabilitation was a logical continuation of treatment. Optimization analysis was performed by clinical examination, radiometric data and indicators of functional methods of research. Comparative analysis of the results of the physical rehabilitation of children with congenital clubfoot in both groups showed a trend more pronounced positive changes in children the main group in all respects.

Normative Data of Corpus Callosal Morphology in a North-West Indian Population- An autopsy and MRI study

Directory of Open Access Journals (Sweden)

Tulika Gupta

2009-01-01

The values of different CC parameters observed were almost similar to the values reported in the other two Indian studies. However, Indian values were found to be more than the Japanese values for length, height and most of the widths of CC. The length and width of CC were found to be less than those of Caucasian population. Generation of this data will help in comparing the CC structure of different sex and ages, to study variations from the normal and may help in surgical planning. Keywords:autopsy brains; corpus callosum; magnetic resonance imaging; morphometric data.

Mesenchymal neoplasia and congenital pulmonary cysts

International Nuclear Information System (INIS)

Weinberg, A.G.; Currarino, G.; Moore, G.C.; Votteler, T.P.

1980-01-01

A malignant mesenchymoma exibiting a varied spectrum of differentation developed within a congenital pulmonary cyst 6 1/2 years after the cyst was first recognized. Related tumors with a similar gross appearance have been previously described and have included rhabdomyosarcomas and so-called pulmonary blastomas. There is a low but distinct risk for the developement of mesenchymal sarcomas within congenital peripheral pulmonary cysts. (orig.) [de

Congenital hydranencephaly: report of an adolescent in the north of Mexico

International Nuclear Information System (INIS)

Barrón Muñoz, María de los Ángeles; Hernández Reyes, Cecilia; Serna Valdés, Raquel Emilia; Torres Flores, Jorge

2016-01-01

Background: hydranencephaly is the total or almost total absence of the cerebral hemispheres with persistent cerebrospinal fluid, which affects individuals around the world regardless of gender or ethnicity. There is no effective and curative treatment, and most patients die before reaching the third year of life, although some exceptions can come of age, always requiring multidisciplinary support. Objective: to present the case of an adolescent male with congenital hydranencephaly. Clinical case: a 11-year-old male from 11 who was admitted at the age of 5 referred to as holoprosencephaly. He was born by caesarean section at 38 weeks of gestation due to rupture of membranes with normal somatometry and Apgar 5, requiring advanced neonatal resuscitation maneuvers. At 30 days head circumference increased to 39 cm and was increasing, reaching 54 cm at 6 months of age. The patient has no control head and trunk, and he was not capable of bipedalism, or developed language or sound emission. A brain scan performed on admission revealed brain parenchyma islets and meninges, corresponding to hydranencephaly. The case is presented by the infrequency with which patients reach adolescence. Conclusions: hydranencephaly is a disease that is usually fatal, and cases that survive have severe and disabling neurological sequeles. Although some genetic syndromes associated with hydranencephaly are known, most cases are usually sporadic with no other manifestations. Though the hope that the case presented shows greater progress in their neurological development is not encouraging, physical, occupational and pulmonary therapy may allow better quality of life. (author)

Red Women, White Policy: American Indian Women and Indian Education.

Science.gov (United States)

Warner, Linda Sue

This paper discusses American Indian educational policies and implications for educational leadership by Indian women. The paper begins with an overview of federal Indian educational policies from 1802 to the 1970s. As the tribes have moved toward self-determination in recent years, a growing number of American Indian women have assumed leadership…

Genetic and Epigenetic Factors at COL2A1 and ABCA4 Influence Clinical Outcome in Congenital Toxoplasmosis

Science.gov (United States)

Jamieson, Sarra E.; de Roubaix, Lee-Anne; Cortina-Borja, Mario; Tan, Hooi Kuan; Mui, Ernest J.; Cordell, Heather J.; Kirisits, Michael J.; Miller, E. Nancy; Peacock, Christopher S.; Hargrave, Aubrey C.; Coyne, Jessica J.; Boyer, Kenneth; Bessieres, Marie-Hélène; Buffolano, Wilma; Ferret, Nicole; Franck, Jacqueline; Kieffer, François; Meier, Paul; Nowakowska, Dorota E.; Paul, Malgorzata; Peyron, François; Stray-Pedersen, Babill; Prusa, Andrea-Romana; Thulliez, Philippe; Wallon, Martine; Petersen, Eskild; McLeod, Rima; Gilbert, Ruth E.; Blackwell, Jenefer M.

2008-01-01

Background Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. Methods and Findings In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting. Conclusions These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite. PMID:18523590

Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

Directory of Open Access Journals (Sweden)

Sarra E Jamieson

2008-06-01

Full Text Available Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute.In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.

Congenital syphilis

International Nuclear Information System (INIS)

Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

1983-01-01

In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

Demographic features of subjects with congenital glaucoma

Science.gov (United States)

Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

2014-01-01

Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

Deprivation amblyopia and congenital hereditary cataract.

Science.gov (United States)

Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

2013-01-01

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

A systematic review of trends and patterns of congenital heart ...

African Journals Online (AJOL)

Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in children in ...

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

2010-01-01

Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

International Nuclear Information System (INIS)

Sajid, N.; Ahmed, N.; Mahmood, S.

2010-01-01

The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

Congenital lobar emphysema: Is surgery routinely necessary ...

African Journals Online (AJOL)

Congenital lobar emphysema (CLE) is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery.

Resurgence of diphtheria in rural areas of North Karnataka, India

OpenAIRE

Mahantesh V Parande; Subarna Roy; B G Mantur; Aisha M Parande; Rupali S Shinde

2017-01-01

Background: A diphtheria outbreak was identified from Vijayapura (formerly Bijapur) district in the South Indian state of Karnataka in 2011. There was a surge in the number of throat swab samples received under the Integrated Disease Surveillance Programme (IDSP) in North Karnataka since then. Objectives: A microbiological study was undertaken to generate information on the status of resurgence of the disease in the region. Materials and Methods: Throat swabs from 432 suspected cases of dipht...

Four novel ELANE mutations in patients with congenital neutropenia.

Science.gov (United States)

Kurnikova, Maria; Maschan, Michael; Dinova, Evgeniya; Shagina, Irina; Finogenova, Natalia; Mamedova, Elena; Polovtseva, Tatyana; Shagin, Dmitry; Shcherbina, Anna

2011-08-01

Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders. We investigated the prevalence of ELANE mutations in a group of 16 patients from 14 families with congenital neutropenia. Five patients had typical manifestations of CyN, and 11 patients had SCN. Seven different heterozygous ELANE mutations were found, including four novel mutations. Copyright © 2011 Wiley-Liss, Inc.

Renal abnormalities in congenital chloride diarrhea

International Nuclear Information System (INIS)

Al-Hamad, Nadia M.; Al-Eisa, Amal A.

2004-01-01

Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

Common congenital malformations of the brain

International Nuclear Information System (INIS)

Naidich, T.P.; Zimmerman, R.A.

1987-01-01

In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

Antenatal diagnosis of congenital deafness.

Science.gov (United States)

Isaacson, G

1988-01-01

Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

MRI of congenital urethroperineal fistula

Energy Technology Data Exchange (ETDEWEB)

Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

2010-12-15

We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

MRI of congenital urethroperineal fistula

International Nuclear Information System (INIS)

Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael; Park, John

2010-01-01

We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

International Nuclear Information System (INIS)

Li Xin; Li Minglin; Yang Zhiyong

1997-01-01

To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

A randomized controlled trial to evaluate the effects of high Protein Complete (lActo VEgetaRian (PACER diet in non-diabetic obese Asian Indians in North India

Directory of Open Access Journals (Sweden)

Swati Bhardwaj

2017-12-01

There was significant weight loss along with improvements in cardio-metabolic risk factors among both the groups post intervention. Percent reductions in the intervention group for weight (6.1± 2.9; p < 0.001, WC (3.9 ± 1.7; p < 0.001, FPG (5.9 ± 3.2; p < 0.001, total cholesterol (10.2 ± 6.3: p < 0.001, serum triacylglycerol (13.6 ± 10.6; p < 0.001 and low-density lipoprotein cholesterol (11.9 ± 7.1; p < 0.001] were significantly greater than the control diet group. In summary, intervention with a PACER diet (high protein, high fat and moderately low carbohydrate, lacto-vegetarian diet showed significant improvement in weight loss, body composition and cardio-metabolic profile as compared to a standard vegetarian diet among obese Asian Indians in north India.

Interlukin-10 gene polymorphisms (-819T/C and -1082A/G and Type 2 diabetes mellitus in North Indian population

Directory of Open Access Journals (Sweden)

Sushma Verma

2016-12-01

Full Text Available Diabetes is a metabolic disorder characterized by chronic hyperglycemia and impaired cytokine levels leading to inflammation. Interlukin-10 (IL-10 is an anti-inflammatory cytokine which acts as macrophage deactivator affecting the synthesis of TNF-a, IL-1, IL-6, IL-8 and GM-CSF. Single-nucleotide polymorphisms (SNPs viz. -592A/C, -819T/C and -1082A/G in IL-10 promoter are associated with IL-10 production. Low IL-10 levels in T2DM cases may be regulated by such gene variants. The present study was undertaken to evaluate the association of two genetic polymorphisms viz. IL-10 -819T/C and -1082A/G with T2DM in a North Indian population. Blood samples from 402 subjects (201 each of controls and T2DM cases were collected after ethical approval and individual written consent. All subjects were genotyped by polymerase chain reaction-restriction length polymorphism (PCR-RFLP using specific primers and restriction enzymes. Genotypic, allelic, carriage rate frequencies were calculated and haplotypic analysis performed by SPSS (version 21.0 and SHEsis (online version. All biochemical parameters except WHR and TG showed significant association with T2DM (P [Dis Mol Med 2016; 4(4.000: 68-76

Price and Volatility Spillovers across North American, European and Asian Stock Markets: With Special Focus on Indian Stock Market

OpenAIRE

Priyanka Singh; Brajesh Kumar; Pandey, Ajay

2008-01-01

This paper investigates interdependence of fifteen world indices including an Indian market index in terms of return and volatility spillover effect. Interdependence of Indian stock market with other fourteen world markets in terms of long run integration, short run dependence (return spillover) and volatility spillover are investigated. These markets are that of are Canada, China, France, Germany, Hong-Kong, Indonesia, Japan, Korea, Malaysia, Pakistan, Singapore, Taiwan, United Kingdom and U...

Genetically caused congenital anomalies of reproductive system

Directory of Open Access Journals (Sweden)

L. F. Kurilo

2013-01-01

Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

A dated phylogeny of the palm tribe Chamaedoreeae supports Eocene dispersal between Africa, North and South America

DEFF Research Database (Denmark)

Cuenca-Navarro, Argelia; Lange, Conny Bruun Asmussen; Borchsenius, Finn

2008-01-01

The palm tribe Chamaedoreeae reaches its higher diversity in Central America, however, its distribution ranges from the north eastern part of Mexico to Bolivia with a disjunction to the Mascarene Islands in the Indian Ocean. The disjunct distribution of Chamaedoreeae is generally considered a res...

Congenital Amputation Involving the Hands and Feet: A Case Report

African Journals Online (AJOL)

There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

Establishment of sexual dimorphism in north indian population by odontometric study of permanent maxillary canine teeth

Directory of Open Access Journals (Sweden)

Shalini Gupta

2014-01-01

Full Text Available Aim: To investigate whether sexual dimorphism can be established by odontometric study of permanent maxillary canine teeth as well as inter-canine width in north Indian population. Study Design: The study was carried out at department of oral and maxillofacial pathology, King George′s Medical University, Lucknow, India on students and patients reporting at OPD. Out of total 180 subjects examined 90 subjects were female and 90 were male. Impressions of the upper arch were made using alginate and casts poured in dental stone. The mesiodistal diameter (MD of the crown of permanent maxillary canine both on right and left sides and inter-canine width were measured. From these measurements, maxillary canine index was calculated. The percentage of sexual dimorphism (SD was assessed for all the parameters. Results: In the present study, the MD of maxillary canine for both right (P = 0.001 and left side (P = 0.005 was significantly higher among male subjects than females, Similar observation was found for inter-canine width too (P = 0.0001. However, the maxillary canine index for right and left was almost similar (P > 0.05 for both male and female subjects. The SD in right and left MDs of maxillary canine was 4.2% and 3.6% respectively. For, inter-canine width it was maximum (13.7%. However, SD in right and left canine index showed negative values (−2.1% and -0.9% respectively. Conclusion: There was SD in MD and inter-canine width of permanent maxillary canine teeth. SD was more on right permanent maxillary canine teeth than left permanent maxillary canine.

CT diagnosis of congenital anomalies of the central nervous system

International Nuclear Information System (INIS)

Mori, Koreaki

1980-01-01

In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

Seasonal water mass distribution in the Indonesian throughflow entering the Indian Ocean

Science.gov (United States)

Coatanoan, C.; Metzl, N.; Fieux, M.; Coste, B.

1999-09-01

A multiparametric approach is used to analyze the seasonal properties of water masses in the eastern Indian Ocean. The data were measured during two cruises of the Java Australia Dynamic Experiment (JADE) program carried out during two opposite seasons: August 1989 (SE monsoon) and February-March 1992 (NW monsoon). These cruises took place at the end of a La Niña event and during an El Niño episode, respectively. Seven sources have been identified in the studied region for the 200-800 m layer: the Subtropical Indian Water, the Indian Central Water, the modified Antarctic Intermediate Water, the Indonesian Subsurface Water, the Indonesian Intermediate Water, the Arabian Sea-Persian Gulf Water (AS-PGW), and the Arabian Sea-Red Sea Water (AS-RSW). The selected tracers are potential temperature, salinity and oxygen with mass conservation and positive mixing coefficients as constraints. The analysis indicates the proportion of each water source along the Australia-Bali section and into the Indonesian channels. Although no large changes are observed for Indonesian waters, significant seasonal variations are found for the southern and northern Indian Ocean water. During the NW monsoon, the contribution of the AS-RSW increases at the entrance of the Indonesian archipelago whereas the contribution of the south Indian waters decreases in the northwest Australia basin. In a complementary study, nutrients are introduced into the multiparametric analysis in order to more clearly separate the signature of the north Indian waters (AS-PGW, AS-RSW) and to provide supplementary information on the biological history of the water masses, which is compared to large-scale primary production estimates.

Radiological findings of congenital urethral valves

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Kook, Shin Ho

1990-01-01

Congenital urethral valve is the common cause of hydronephrosis in newborn infants and the most common cause of bladder outlet obstruction in male children. We reviewed and analysed radiological findings and associated anomalies of 16 cases of congenital urethral valve which were examined during the period from January 1985 to December 1989. The most frequent age was under one year old (56%). The main symptoms were urinary dribbing (37.5%), weak stream (25%) and urinary frequency and incontinence (25%). Anterior urethral valve (AUV) was 5 cases (31%) and posterior urethral valve (PUV) was 11 cases(69%), in which 10 cases were Type I and one case was Type III. Bladder wall thickening was seen in all cases and its severity was partly correlated with the degree of vesicoureteral reflux (VUR). VUR was observed in 12 cases (75%), and relatively severe in older age group. The degree of VUR was milder in AUV than PUV. Hydronephrosis was more severe in PUV than in anterior one, and its degree was correlated with the severity of VUR. Associated anomalies were ectopic urethral opening (2 cases), PDA (1 case), congenital megacolon (1 case) and patent urachus (1 case) in PUV. So early diagnosis and treatment of congenital urethral valve is essential to the prevention of renal damage

Evaluation of congenital heart disease by magnetic resonance imaging

International Nuclear Information System (INIS)

Roos, A. de; Roest, A.A.W.

2000-01-01

Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

Petrogenesis and tectonic association of rift-related basic Panjal dykes from the northern Indian plate, North-Western Pakistan: evidence of high-Ti basalts analogous to dykes from Tibet

Science.gov (United States)

Sajid, Muhammad; Andersen, Jens; Arif, Mohammad

2017-10-01

Rift related magmatism during Permian time in the northern margin of Indian plate is represented by basic dykes in several Himalayan terranes including north western Pakistan. The field relations, mineralogy and whole rock geochemistry of these basic dykes reveal significant textural, mineralogical and chemical variation between two major types (a) dolerite and (b) amphibolite. Intra-plate tectonic settings for both rock types have been interpreted on the basis of low Zr/Nb ratios (primitive mantle using Dy/Yb, La/Yb, Sm/Yb and La/Sm ratios show that amphibolite formed by smaller degrees (< 5%) of partial melting than the dolerites (< 10%). The trace elements ratios suggest the origination of dolerites from the subcontinental lithospheric mantle with some crustal contamination. This is consistent with a petrogenetic relationship with Panjal trap magmatism, reported from Kashmir and other parts of north western India. The amphibolites, in contrast, show affinity towards Ocean Island basalts (OIB) with a relatively deep asthenospheric mantle source and minimal crustal contribution and are geochemically similar to the High-Ti mafic dykes of southern Qiangtang, Tibet. These similarities combined with Permian tectonic restoration of Gondwana indicate the coeval origin for both dykes from distinct mantle source during continental rifting related to formation of the Neotethys Ocean.

Association of DD genotype of angiotensin-converting enzyme gene (I/D) polymorphism with hypertension among a North Indian population.

Science.gov (United States)

Rana, Garima; Yadav, Suniti; Joshi, Shipra; Saraswathy, K N

2018-01-01

Hypertension, a major risk factor for cardiovascular diseases, is among the leading causes of morbidity and mortality worldwide. Genetic predisposition to the risk of developing hypertension due to angiotensin-converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism (through altered serum ACE activity) is well documented among various populations. The present study investigated the possible association between ACE (DD) genotype and hypertension using a nested case-control study design including 451 individuals (of either sex in the age group 30-65 years) from a rural North Indian population practicing agriculture and lacto-vegetarianism. Blood Pressure was classified using JNC-7 criterion. Age- and sex-matched individuals were selected from normotensive (N-122), pre-hypertensive (N-123), hypertensive not on medication (N-122), and hypertensive on medication (N-84) categories. Amplification of DNA and genotyping of PCR product was done using standard protocols. From the analysis, comparatively higher frequency of individuals with DD genotype in the hypertensive category was observed, indicating a possible relation between DD genotype and hypertension. The odds ratio analysis revealed 2.225 (1.13-4.37)-fold significant increased risk for hypertension among cases, validating the vulnerability of individuals with DD genotype towards hypertension. Thus, the present study highlights the increased risk for developing hypertension due to ACE DD genotype in the studied population.

Risk Factors of Congenital Heart Diseases: A Case-Control Study inNorthwest Iran.

Science.gov (United States)

Naghavi-Behzad, Mohammad; Alizadeh, Mahasti; Azami, Saber; Foroughifar, Shirin; Ghasempour-Dabbaghi, Khazar; Karzad, Nazila; Ahadi, Hamid-Reza; Naghavi-Behzad, Ali

2013-01-01

Congenital heart diseases are of immense importance and also a high prevalence. Contributing factors to developing these defects have not been abundantly studied. Therefore, the current study was conducted aiming at determining the effective factors on Congenital Heart Disease (CHD) in newborn infants of Northwest Iran. A case-control study was carried out in North-West of Iran from 2002 to 2012 and a total of 473 infants entered the study. Required data were obtained through check lists completed by the information of hospital records and interview with mothers of 267 newborn infants with CHD together with medical records of mothers as the case group, and 206 medical records of healthy infants at the same period all together with those of their mothers as the control group. The obtained data were statistically analyzed using descriptive statistical methods, T-test, Spearman's correlation coefficient, and Multi-variable Logistic Regression Model (OR with 95% CI), using SPSS.19. In the present study, P value less than 0.05 was considered statistically significant. Based on the results of univariable analyses, the number of previous cesarean sections, past medical history of diseases, gestational age (GA), fetal weight at birth, diastolic blood pressure, fetal heart rate, pulse rate, fetal hemoglobin and hematocrit levels, and fetal head circumference at birth have significant relationship with incidence of congenital abnormalities (Prelationship with CHD incidence. Based on the results of present study, in order to control and reduce the cases of CHD, it is crucial to make proper decisions and implement policies for reducing cesarean cases, lowering consanguineous marriages, providing proper pre-marriage counseling, prompt treatment of mothers' illnesses, improving pregnancy health care and mothers' health status for the purpose of better well-being of newborn infants.

Risk Factors of Congenital Heart Diseases: A Case-Control Study in Northwest Iran

Directory of Open Access Journals (Sweden)

Naghavi-Behzad Mohammad

2013-03-01

Full Text Available Introduction: Congenital heart diseases are of immense importance and also a high prevalence. Contributing factors to developing these defects have not been abundantly studied. Therefore, the current study was conducted aiming at determining the effective factors on Congenital Heart Disease (CHD in newborn infants of Northwest Iran. Methods: A case-control study was carried out in North-West of Iran from 2002 to 2012 and a total of 473 infants entered the study. Required data were obtained through check lists completed by the information of hospital records and interview with mothers of 267 newborn infants with CHD together with medical records of mothers as the case group, and 206 medical records of healthy infants at the same period all together with those of their mothers as the control group. The obtained data were statistically analyzed using descriptive statistical methods, T-test, Spearman’s correlation coefficient, and Multi-variable Logistic Regression Model (OR with 95% CI, using SPSS.19. In the present study, P value less than 0.05 was considered statistically significant. Results: Based on the results of univariable analyses, the number of previous cesarean sections, past medical history of diseases, gestational age (GA, fetal weight at birth, diastolic blood pressure, fetal heart rate, pulse rate, fetal hemoglobin and hematocrit levels, and fetal head circumference at birth have significant relationship with incidence of congenital abnormalities (P<0.05. Family history, past cesarean sections history, past medical history and GA had significant relationship with CHD incidence. Conclusion: Based on the results of present study, in order to control and reduce the cases of CHD, it is crucial to make proper decisions and implement policies for reducing cesarean cases, lowering consanguineous marriages, providing proper pre-marriage counseling, prompt treatment of mothers’ illnesses, improving pregnancy health care and mothers�

Genetic epidemiology of pharmacogenetic variations in CYP2C9, CYP4F2 and VKORC1 genes associated with warfarin dosage in the Indian population.

Science.gov (United States)

Giri, Anil K; Khan, Nazir M; Grover, Sandeep; Kaur, Ismeet; Basu, Analabha; Tandon, Nikhil; Scaria, Vinod; Kukreti, Ritushree; Brahmachari, Samir K; Bharadwaj, Dwaipayan

2014-07-01

Warfarin, a widely used anticoagulant, exhibits large interindividual variability in dose requirements. CYP2C9 and VKORC1 polymorphisms in various ethnic groups have been extensively studied as genetic markers associated with variable drug response. However, allele frequencies of these variants have not been assessed in major ethnic groups in the Indian population. To study the functional variants known to affect warfarin dosing, we reanalyzed genotype microarray datasets generated as a part of genome-wide association studies as well as data from the Indian Genome Variation database. We examined data from 2680 individuals across 24 ethnically diverse Indian subpopulations. Allelic distribution of VKORC1 (-1639G>A) showed a greater degree of variation across Indian subpopulations, with frequencies as low as 6.5% in an out-group subpopulation to >70% in Tibeto-Burmans. Risk allele frequency of CYP4F2*3 (V433M) was higher in north Indians (0.30-0.44), as compared with other world populations, such as African-American (0.12), Caucasian (0.34) and Hispanic (0.23). TheVKORC1 variant (-1639A) was shown to be prevalent amongst Tibeto-Burmans, whereas CYP2C9 (R144C, I359L) and CYP4F2 (V433M) variants were observed in considerable variability amongst Indo-Europeans. The frequency of CYP2C9*3 (I359L) in north Indians was found to be higher than in most Asian populations. Furthermore, geographical distribution patterns of these variants in north India showed an increased trend of warfarin extensive metabolizers from the Himalayan to Gangetic region. Combined allele frequency (CYP2C9*3 and CYP4F2*3) data suggest that poor metabolizers varied in the range of 0.38-1.85% in Indo-Europeans. Based on genotypic distribution, the majority of the Indian subpopulation might require higher doses for stable anticoagulation, whereas careful assessment is required for Tibeto-Burmans who are expected to have intermediate dose requirement. This is the largest global genetic epidemiological

Detection of active human papilloma virus-16 in head and neck cancers of Asian North Indian patients.

Science.gov (United States)

Sannigrahi, M K; Singh, V; Sharma, R; Panda, N K; Radotra, B D; Khullar, M

2016-01-01

Head and neck cancers (HNC) are one of the most common cancers in India. Human papillomavirus (HPV) has been identified as an emerging risk factor for HNC. The present study was carried out to determine the active form of HPV-16 using a combination of PCR, viral load determination, HPV-16 E7 mRNA expression, p16, p53, and pRB immuno-histochemistry (IHC). A total of 226 HNC patients were enrolled in the present study. Sixty-seven (29.7%) of HNC cases were found to be HPV DNA positive. Thirty-two (14%) cases were HPV-16 DNA positive and 20 (9%) cases expressed HPV-16 E7 mRNA. HPV-16 mRNA/p16 positive cases had significantly increased viral load and integrated HPV-16 DNA. In summary, of total HNC patients, 6% cases were positive for both HPV-16 DNA and p16, and 5% were positive for both E7 mRNA and p16 IHC. We observed similar HPV-16 DNA/E7mRNA prevalence in oropharynx and oral cavity sites, however, oropharynx SCC had significantly higher viral load. Our results show low prevalence of active HPV-16 in North Indian HNC patients. HPV-16 E7 mRNA expression correlated with p16 nuclear positivity and increased viral load. Therefore, E7 mRNA expression may be used as a good surrogate indicator for active form of HPV-16 infection. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Congenital Scaphoid Megalourethra: A Case Report

Directory of Open Access Journals (Sweden)

Kenji Obara

2017-09-01

Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

Serologic prevalence of Toxoplasma gondii in Indian women of child bearing age and effects of social and environmental factors.

Directory of Open Access Journals (Sweden)

Sarman Singh

2014-03-01

Full Text Available BACKGROUND: Seroprevalence and incidence of toxoplasmosis in women of child bearing age has remained a contentious issue in the Indian subcontinent. Different laboratories have used different patient recruitment criteria, methods and variable results, making these data difficult to compare. AIM: To map the point-prevalence and incidence of toxoplasmosis in India. MATERIAL AND METHODS: In this cross-sectional study, a total of 1464 women of fertile age were recruited from 4 regions using similar recruitment plans. This included women from northern (203, southern (512, eastern (250 and western (501 regions of India. All samples were transported to a central laboratory in Delhi and tested using VIDAS technology. Their age, parity, eating habits and other demographic and clinical details were noted. RESULTS: Most women were in the 18-25 years age group (48.3%, followed by 26-30 years (28.2% and 31-35 years (13.66. Few (45 women older than 35 yr. were included. Overall prevalence of anti-Toxoplasma IgG antibodies was seen in 22.40%, with significantly more in married women (25.8% as compared to single women (4.3%. Prevalence increased steadily with age: 18.1% in the 18-25 yr. age group to 40.5% in women older than 40 yr. The prevalence was high (66% in those who resided in mud houses. Region-wise, the highest prevalence was observed in South India (37.3% and the lowest (8.8% in West Indian women. This difference was highly significant (P<0.001. Prevalence was 21.2% in East India and 19.7% in North India. The IgM positivity rate ranged from 0.4% to 2.9% in four study centers. CONCLUSIONS: This pan-India study shows a prevalence rate of 22.4% with a wide variation in four geographical regions ranging from as low as 8.8% to as high as 37.3%. The overall IgM positivity rate was 1.43%, indicating that an estimated 56,737-176,882 children per year are born in India with a possible risk of congenital toxoplasmosis.

Serologic prevalence of Toxoplasma gondii in Indian women of child bearing age and effects of social and environmental factors.

Science.gov (United States)

Singh, Sarman; Munawwar, Arshi; Rao, Sugandhi; Mehta, Sanjay; Hazarika, Naba Kumar

2014-03-01

Seroprevalence and incidence of toxoplasmosis in women of child bearing age has remained a contentious issue in the Indian subcontinent. Different laboratories have used different patient recruitment criteria, methods and variable results, making these data difficult to compare. To map the point-prevalence and incidence of toxoplasmosis in India. In this cross-sectional study, a total of 1464 women of fertile age were recruited from 4 regions using similar recruitment plans. This included women from northern (203), southern (512), eastern (250) and western (501) regions of India. All samples were transported to a central laboratory in Delhi and tested using VIDAS technology. Their age, parity, eating habits and other demographic and clinical details were noted. Most women were in the 18-25 years age group (48.3%), followed by 26-30 years (28.2%) and 31-35 years (13.66). Few (45) women older than 35 yr. were included. Overall prevalence of anti-Toxoplasma IgG antibodies was seen in 22.40%, with significantly more in married women (25.8%) as compared to single women (4.3%). Prevalence increased steadily with age: 18.1% in the 18-25 yr. age group to 40.5% in women older than 40 yr. The prevalence was high (66%) in those who resided in mud houses. Region-wise, the highest prevalence was observed in South India (37.3%) and the lowest (8.8%) in West Indian women. This difference was highly significant (P<0.001). Prevalence was 21.2% in East India and 19.7% in North India. The IgM positivity rate ranged from 0.4% to 2.9% in four study centers. This pan-India study shows a prevalence rate of 22.4% with a wide variation in four geographical regions ranging from as low as 8.8% to as high as 37.3%. The overall IgM positivity rate was 1.43%, indicating that an estimated 56,737-176,882 children per year are born in India with a possible risk of congenital toxoplasmosis.

[Congenital intestinal lymphangiectasia].

Science.gov (United States)

Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

2011-03-01

Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

Congenital CMV Infection, An imaging perspective: A case report.

Directory of Open Access Journals (Sweden)

Dr. Nikunj Patel

2017-12-01

Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.

Prosthetic management of congenital anophthalmia-microphthalmia patient

Directory of Open Access Journals (Sweden)

Himanshi Aggarwal

2015-01-01

Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

PROTAGONISM OF AMERICAN INDIANS IN WALTER LANTZ'S CARTOONS

Directory of Open Access Journals (Sweden)

Rafael Duarte Oliveira Venancio

2011-06-01

Full Text Available Condemned to a dubious media representation in early cinema through the novels of the late nineteenth century, the North American Indians never had a high profile in films of this period. However, an animator, Walter Lantz, has a high degree of characterization of Native Americans in his work. The aim of this paper is to study the role of Native Americans in these cartoons and analyze the social implications of these choices, using the concepts of apparatus and formula. Furthermore, the analysis will include a portrayal of the American media scene before and after Lantz, seeking disruptions and legacies.

A comparison of antenatal classifications of ‘overweight’ and ‘obesity’ prevalence between white British, Indian, Pakistani and Bangladeshi pregnant women in England; analysis of retrospective data

Directory of Open Access Journals (Sweden)

Rebecca Garcia

2017-04-01

Full Text Available Abstract Background Maternal obesity increases women’s risk of poor birth outcomes, and statistics show that Pakistani and Bangladeshi women (who are born or settled in the UK experience higher rates of perinatal mortality and congenital anomalies than white British or white Other women. This study compares the prevalence of maternal obesity in Indian, Pakistani, Bangladeshi and white British women using standard and Asian-specific BMI metrics. Method Retrospective cross-sectional analysis using routinely recorded secondary data in Ciconia Maternity information System (CMiS, between 2008 and 2013. Mothers (n = 15,205 whose ethnicity was recorded as white British, Bangladeshi, Pakistani or Indian. Adjusted standardised residuals and Pearson Chi-square. Main outcome measures: Percentage of mothers stratified by ethnicity (Indian, Pakistani, Bangladeshi and white British who are classified as overweight or obese using standard and revised World Health Organisation BMI thresholds. Results Compared to standard BMI thresholds, using the revised BMI threshold resulted in a higher prevalence of obesity: 22.8% of Indian and 24.3% of Bangladeshi and 32.3% of Pakistani women. Pearson Chi-square confirmed that significantly more Pakistani women were classified as ‘obese’ compared with white British, Indian or Bangladeshi women (χ 2  = 499,88 df = 9, p < 0.001. Conclusions There are differences in the prevalence of obese and overweight women stratified by maternal ethnicity of white British, Indian, Pakistani and Bangladeshi. Using revised anthropometric measures in Indian, Pakistani and Bangladeshi women has clinical implications for identifying risks associated with obesity and increased complications in pregnancy.

Congenital Diverticular Disease of the Entire Colon

Directory of Open Access Journals (Sweden)

A. Patel

2013-01-01

Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

Directory of Open Access Journals (Sweden)

Chinmayee

2015-03-01

Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

Effect of tropical cyclones on the stratosphere–troposphere exchange observed using satellite observations over the north Indian Ocean

Directory of Open Access Journals (Sweden)

M. Venkat Ratnam

2016-07-01

Full Text Available Tropical cyclones play an important role in modifying the tropopause structure and dynamics as well as stratosphere–troposphere exchange (STE processes in the upper troposphere and lower stratosphere (UTLS region. In the present study, the impact of cyclones that occurred over the north Indian Ocean during 2007–2013 on the STE processes is quantified using satellite observations. Tropopause characteristics during cyclones are obtained from the Global Positioning System (GPS radio occultation (RO measurements, and ozone and water vapour concentrations in the UTLS region are obtained from Aura Microwave Limb Sounder (MLS satellite observations. The effect of cyclones on the tropopause parameters is observed to be more prominent within 500 km of the centre of the tropical cyclone. In our earlier study, we observed a decrease (increase in the tropopause altitude (temperature up to 0.6 km (3 K, and the convective outflow level increased up to 2 km. This change leads to a total increase in the tropical tropopause layer (TTL thickness of 3 km within 500 km of the centre of cyclone. Interestingly, an enhancement in the ozone mixing ratio in the upper troposphere is clearly noticed within 500 km from the cyclone centre, whereas the enhancement in the water vapour in the lower stratosphere is more significant on the south-east side, extending from 500 to 1000 km away from the cyclone centre. The cross-tropopause mass flux for different intensities of cyclones is estimated and it is found that the mean flux from the stratosphere to the troposphere for cyclonic storms is 0.05 ± 0.29 × 10−3 kg m−2, and for very severe cyclonic storms it is 0.5 ± 1.07 × 10−3 kg m−2. More downward flux is noticed on the north-west and south-west side of the cyclone centre. These results indicate that the cyclones have significant impact in effecting the tropopause structure, ozone and water vapour budget, and

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

OpenAIRE

Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

2008-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with ...

Congenital bilateral neuroblastoma (stage IV-S): case report

International Nuclear Information System (INIS)

Lee, Jeong Hee; Lee, Hee Jung; Woo, Seong Ku; Lee, Sang Rak; Kim, Heung Sik

2002-01-01

Congenital neonatal neuroblastoma is not uncommon but bilateral adrenal neuroblastoma is rare, accounting for about ten percent of neuroblastomas in children. We report the US the MR findings of a stage IV-S congenital bilateral neuroblastoma occurring in a one-day-old neonate

Congenital broncho-oesophageal fistula

African Journals Online (AJOL)

1983-04-09

Apr 9, 1983 ... Rigid bronchoscopy performed under general anaesthesia .... Blackburn WR, Armour)' RA. Congenital esophago-pulmonary fistulas without esophageal atresia: an analysis of 260 fistulas in infants, children and adults.

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

Science.gov (United States)

Simmons, M Abigail; Brueckner, Martina

2017-10-01

This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

Solitary ulcerated congenital giant juvenile xanthogranuloma

Directory of Open Access Journals (Sweden)

Su Yuen Ng

2015-01-01

Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

Compliance with Adult Congenital Heart Disease Guidelines: Are We Following the Recommendations?

Science.gov (United States)

Gerardin, Jennifer F; Menk, Jeremiah S; Pyles, Lee A; Martin, Cindy M; Lohr, Jamie L

2016-05-01

As the adult congenital heart disease population increases, poor transition from pediatric to adult care can lead to suboptimal quality of care and an increase in individual and institutional costs. In 2008, the American College of Cardiology and American Heart Association updated the adult congenital heart disease practice guidelines and in 2011, the American Heart Association recommended transition guidelines to standardize and encourage appropriate timing of transition to adult cardiac services. The objective of this study was to evaluate if patient age or complexity of congenital heart disease influences pediatric cardiologists' decision to transfer care to adult providers and to evaluate the compliance of different types of cardiology providers with current adult congenital heart disease treatment guidelines. A single-center retrospective review of 991 adult congenital heart disease patients identified by ICD-9 code from 2010 to 2012. Academic and community outpatient cardiology clinics. Nine hundred ninety-one patients who are 18 years and older with congenital heart disease. None. The compliance with health maintenance and transfer of care recommendations in the outpatient setting. For patients seen by pediatric cardiologists, only 20% had transfer of care discussions documented, most often in younger simple patients. Significant differences in compliance with preventative health guidelines were found between cardiology provider types. Even though a significant number of adults with congenital heart disease are lost to appropriate follow-up in their third and fourth decades of life, pediatric cardiologists discussed transfer of care with moderate and complex congenital heart disease patients less frequently. Appropriate transfer of adults with congenital heart disease to an adult congenital cardiologist provides an opportunity to reinforce the importance of regular follow-up in adulthood and may improve outcomes as adult congenital cardiologists followed the

Changing Landscape of Congenital Heart Disease.

Science.gov (United States)

Bouma, Berto J; Mulder, Barbara J M

2017-03-17

Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

The North-South divide in snake bite envenomation in India

Directory of Open Access Journals (Sweden)

Vivek Chauhan

2016-01-01

Full Text Available Snake bite envenomations are common in rural areas and the incidence peaks during monsoons in India. Prominent venomous species have been traditionally labeled as the ′big four′ that includes Cobra, Krait, Russel′s viper and Saw scaled viper. Systematic attempts for identification and classification of prevalent snakes in various states of India are missing till now and there is no concrete data on this aspect. The published literature however shows that some species of snakes are more prevalent in a particular region than the other parts of India e.g. Saw scaled vipers in Rajasthan. We reviewed the published literature from various parts of India and found that there is a North-South divide in the snake bite profile from India. Neurotoxic envenomations are significantly higher in North India compared to South India where Hematotoxic envenomations are prevalent. Russel′s viper causes local necrosis, gangrene and compartment syndrome. These manifestations have never been reported in North Indian snake bite profile in the published literature. Early morning neuroparalysis caused by Krait is a common problem in North India leading to high mortality after snake bite. This review presents supporting evidence for the North-South divide and proposes a way forward in formulation and revision of guidelines for snake bite in India.

Xenopus: An Emerging Model for Studying Congenital Heart Disease

Science.gov (United States)

Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

2011-01-01

Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

Lutembacher's syndrome: A rare combination of congenital and ...

African Journals Online (AJOL)

Because the mitral stenosis was, in fact, rheumatic in aetiology, the syndrome was defined eventually as a combination of congenital atrial septal defect and acquired, almost always rheumatic, mitral stenosis. Keywords:Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral ...

Indian monsoon variations during three contrasting climatic periods: the Holocene, Heinrich Stadial 2 and the last interglacial-glacial transition

Science.gov (United States)

Zorzi, Coralie; Fernanda Sanchez Goñi, Maria; Anupama, Krishnamurthy; Prasad, Srinivasan; Hanquiez, Vincent; Johnson, Joel; Giosan, Liviu

2016-04-01

In contrast to the East Asian and African monsoons the Indian monsoon is still poorly documented throughout the last climatic cycle (last 135,000 years). Pollen analysis from two marine sediment cores (NGHP-01-16A and NGHP-01-19B) collected from the offshore Godavari and Mahanadi basins, both located in the Core Monsoon Zone (CMZ) reveals changes in Indian summer monsoon variability and intensity during three contrasting climatic periods: the Holocene, the Heinrich Stadial (HS) 2 and the Marine Isotopic Stage (MIS) 5/4 during the ice sheet growth transition. During the first part of the Holocene between 11,300 and 4,200 cal years BP, characterized by high insolation (minimum precession, maximum obliquity), the maximum extension of the coastal forest and mangrove reflects high monsoon rainfall. This climatic regime contrasts with that of the second phase of the Holocene, from 4,200 cal years BP to the present, marked by the development of drier vegetation in a context of low insolation (maximum precession, minimum obliquity). The historical period in India is characterized by an alternation of strong and weak monsoon centennial phases that may reflect the Medieval Climate Anomaly and the Little Ice Age, respectively. During the HS 2, a period of low insolation and extensive iceberg discharge in the North Atlantic Ocean, vegetation was dominated by grassland and dry flora indicating pronounced aridity as the result of a weak Indian summer monsoon. The MIS 5/4 glaciation, also associated with low insolation but moderate freshwater fluxes, was characterized by a weaker reduction of the Indian summer monsoon and a decrease of seasonal contrast as recorded by the expansion of dry vegetation and the development of Artemisia, respectively. Our results support model predictions suggesting that insolation changes control the long term trend of the Indian monsoon precipitation, but its millennial scale variability and intensity are instead modulated by atmospheric

CONCEPTS OF COLORS IN CHILDREN WITH CONGENITAL BLINDNESS

Directory of Open Access Journals (Sweden)

Daniela DIMITROVA-RADOJICHIKJ

2015-11-01

Full Text Available This descriptive qualitative interview study in¬ves¬tigates knowledge of colours in students who are congenitally blind. The purpose of this research was to explore how the lack of direct experience with colour, as a result of congenital blindness, affects judgments about semantic concepts. Qualitative methods were used to conduct interviews with 15 students. The results of the study indicate that students know the colours and have a favourite colour. The implications for practice are to pay more attention when we teach students with congenital blindness to associate colours with specific objects.

Neural correlates of olfactory processing in congenital blindness

DEFF Research Database (Denmark)

Kupers, R; Beaulieu-Lefebvre, M; Schneider, F C

2011-01-01

Adaptive neuroplastic changes have been well documented in congenitally blind individuals for the processing of tactile and auditory information. By contrast, very few studies have investigated olfactory processing in the absence of vision. There is ample evidence that the olfactory system...... magnetic resonance imaging to measure changes in the blood-oxygenation level-dependent signal in congenitally blind and blindfolded sighted control subjects during a simple odor detection task. We found several group differences in task-related activations. Compared to sighted controls, congenitally blind......, linking it also to olfactory processing in addition to tactile and auditory processing....

Rapidly involuting congenital hemangioma (RICH): a brief case report

OpenAIRE

Scalise, Robert; Bolton, Joanna; Gibbs, Neil F

2014-01-01

Congenital hemangiomas (CH) are benign vascular neoplasms that proliferate in utero and have completed development by birth. Two subtypes of CH are recognized: rapidly involuting congenital hemangiomas (RICH) and non-involuting congenital hemangiomas (NICH). Involution of the RICH subtype often begins in the first weeks of life. NICH does not involute, allowing the distinction between RICH and NICH. We report a case of an infant with RICH occurring on the scalp, examined at birth and followed...

Indianization of psychiatry utilizing Indian mental concepts

Science.gov (United States)

Avasthi, Ajit; Kate, Natasha; Grover, Sandeep

2013-01-01

Most of the psychiatry practice in India is guided by the western concepts of mental health and illness, which have largely ignored the role of religion, family, eastern philosophy, and medicine in understanding and managing the psychiatric disorders. India comprises of diverse cultures, languages, ethnicities, and religious affiliations. However, besides these diversities, there are certain commonalities, which include Hinduism as a religion which is spread across the country, the traditional family system, ancient Indian system of medicine and emphasis on use of traditional methods like Yoga and Meditation for controlling mind. This article discusses as to how mind and mental health are understood from the point of view of Hinduism, Indian traditions and Indian systems of medicine. Further, the article focuses on as to how these Indian concepts can be incorporated in the practice of contemporary psychiatry. PMID:23858244

Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

Science.gov (United States)

Akimaro Kudo, F; Nishibe, T; Miyazaki, K; Flores, J; Yasuda, K

2001-12-01

Congenital pelvic arteriovenous malformations (AVMs) are rare and their clinical behavior is quite variable. A case of congenital pelvic AVM manifesting with unusual extrapelvic symptoms of ipsilateral leg pain is described. The causes of symptoms associated with congenital pelvic AVMs are discussed.

Congenital cytomegalovirus infection : disease burden and screening tools : towards newborn screening

NARCIS (Netherlands)

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

Congenital Constriction Band Syndrome

OpenAIRE

Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

2008-01-01

Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

Congenital anterior urethral diverticulum

International Nuclear Information System (INIS)

Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

1985-01-01

Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

Congenital intestinal lymphangiectasia

Directory of Open Access Journals (Sweden)

Popović Dušan Đ.

2011-01-01

Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

Congenital nephrotic syndrome

Directory of Open Access Journals (Sweden)

Claudia Fanni

2014-06-01

Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

Congenital Hepatic Cyst

Directory of Open Access Journals (Sweden)

Aldo Recinos

2017-04-01

Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

Congenital diaphramatic hernia

Energy Technology Data Exchange (ETDEWEB)

Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

2012-01-15

Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

Congenital diaphramatic hernia

International Nuclear Information System (INIS)

Kline-Fath, Beth M.

2012-01-01

Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

Incidence of legal abortions and congenital abnormalities in Hungary

International Nuclear Information System (INIS)

Czeizel, A.E.

1991-01-01

The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary

[Prevention of congenital toxoplasmosis in a Buenos Aires hospital].

Science.gov (United States)

Carral, Liliana; Kaufer, Federico; Olejnik, Patricia; Freuler, Cristina; Durlach, Ricardo

2013-01-01

The prevention of congenital toxoplasmosis is based on providing information to women, serologic diagnosis and treatment of the infected mother and child. In this article we present the results of 12 years of implementation of a congenital toxoplasmosis prevention program in which we measured the mother's infection incidence rate, the transmission rate and the number and severity of infection in newborns. The study was performed on 12035 pregnant women in the period 2000-2011. The prevalence rate of antibodies against Toxoplasma gondii was 18.33% (2206/12035). Thirty-seven out of 9792 susceptible women presented acute infection and the mother's infection incidence rate was 3.78 per 1000 births. The transplacental transmission rate was 5.4% (2/37). Two newborns presented congenital toxoplasmosis infection, one had no clinical signs while the other presented strabismus and chorioretinitis. Thirty-five infected mothers and the two children with congenital infection were treated. The transmission rates obtained allow consider this prevention program as a valid resource to minimize the impact of congenital toxoplasmosis.

Congenital diplopodia

International Nuclear Information System (INIS)

Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

2003-01-01

Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

Diagnostic model of 3-D circulation in the Arabian Sea and western equatorial Indian Ocean: Results of monthly mean sea surface topography

Digital Repository Service at National Institute of Oceanography (India)

Bahulayan, N.; Shaji, C.

A three-dimensional diagnostic model has been developed to compute the monthly mean circulation and sea surface topography in the Western Tropical Indian Ocean north of 20 degrees S and west of 80 degrees E. The diagnostic model equations...

Adult Congenital Heart Disease with Focus on Pregnancy

NARCIS (Netherlands)

T.P.E. Ruys (Titia)

2013-01-01

textabstractThe prevalence of Congenital Heart Disease (CHD) has been described to be 8,2 per 1000 live births in European countries.(1) Congenital heart disease is a collective term for a large number of different diagnoses with different anatomical substrate, complexity and prognosis. The most

Congenital heart disease and chromossomopathies detected by the karyotype

Directory of Open Access Journals (Sweden)

Patrícia Trevisan

2014-06-01

Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

Congenital heart disease and chromossomopathies detected by the karyotype

Science.gov (United States)

Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

2014-01-01

OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

Congenital diseases and syndromes. An illustrated radiological guide

Energy Technology Data Exchange (ETDEWEB)

Al-Tubaikh, Jarrah Ali [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie; Sabah Hospital (Kuwait). Dept. of Diagnostic Radiology; Reiser, Maximilian F. [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie

2009-07-01

Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

Congenital diseases and syndromes. An illustrated radiological guide

International Nuclear Information System (INIS)

Al-Tubaikh, Jarrah Ali; Sabah Hospital; Reiser, Maximilian F.

2009-01-01

Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

Science.gov (United States)

Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital Symmastia: A 3-Step Approach

OpenAIRE

Sadaka, Mohamed Saad; Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this con...

Congenital Symmastia: A 3-Step Approach

Science.gov (United States)

Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition. PMID:28293510

Thickened cortical bones in congenital neutropenia

International Nuclear Information System (INIS)

Boechat, M.I.; Gormley, L.S.; O'Laughlin, B.J.

1987-01-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described. (orig.)

Thickened cortical bones in congenital neutropenia

Energy Technology Data Exchange (ETDEWEB)

Boechat, M.I.; Gormley, L.S.; O' Laughlin, B.J.

1987-02-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.

High prevalence of cardiovascular risk factors in Asian Indians: A community survey - Chandigarh Urban Diabetes Study (CUDS

Directory of Open Access Journals (Sweden)

Rama Walia

2014-01-01

Full Text Available Background & objectives: Studies conducted to assess the prevalence of cardiovascular (CV risk factors among different regions of the country show variation in risk factors in different age groups and urban and rural population. We undertook this study to determine the prevalence of cardiovascular risk factors among urban adults in a north Indian city. Methods: In a cross-sectional survey, 2227 subjects aged ≥ 20 yr were studied from April 2008 to June 2009 in Urban Chandigarh, a north Indian city. Demographic history, anthropometry and blood pressure were assessed. Fasting, and 2 h capillary plasma glucose after 75 g glucose load, HDL-C and triglycerides were estimated. Results: The most prevalent cardiovascular risk factors in the age group of 20-29 yr was sedentary lifestyle (63%, while from fourth decade and onwards, it was overweight/obesity (59-85%. The second most common prevalent cardiovascular risk factor in the age group of 20-29 yr was overweight/obesity, in 30-49 yr sedentary lifestyle, in 50-69 yr hypertension and in subjects ≥70 yr, it was hypertriglyceridaemia. The prevalence of overweight/obesity, hypertension, dysglycaemia and smoking was almost double in subjects in the fourth decade of life, as compared to those in the third decade of life. The prevalence of CV risk factors significantly increased with age irrespective of gender and prevalence of low HDL-C was significantly more common in women as compared to men. Interpretation & conclusions: Sedentary lifestyle, obesity and low HDL-C are the most prevalent CV risk factors in subjects in the third and fourth decade of life in this north Indian population and clustering of these cardiovascular risk factors increases with advancing age. Strategies need to be formulated to target this population to prevent the epidemic of cardiovascular disease.

Multifaceted intra-seasonal modes over the East Asia-western North Pacific summer monsoon region

Science.gov (United States)

Ha, K. J.; Oh, H.

2017-12-01

Intra-seasonal monsoon prediction is the most imperative task due to high impact on 2/3 of world populations' daily life, but there remains an enduring challenge in climate science. The present study aims to provide a physical understanding of the sources for prediction of dominant intra-seasonal modes in the East Asian-western North Pacific summer monsoon (EA-WNPSM): preMeiyu&Baiu, Changma&Meiyu, WNPSM, and monsoon gyre modes classified by the self-organizing map analysis. The preMeiyu-Baiu mode is strongly linked to both the anomalous low-level convergence and vertical wind shear through baroclinic instability, and the Changma&Meiyu mode has a strengthened tropic-subtropics connection along the western north Pacific subtropical high, which induces vertical destabilization and strong convective instability. The WNPSM and monsoon gyre modes are characterized by anomalous southeasterly flow of warm and moist air from western north Pacific monsoon, and low-level easterly flow, respectively. Prominent difference in response to the ENSO leads to different effects of the Indian Ocean and western Pacific thermal state, and consequently, the distinct moisture supply and instability variations for the EASM intra-seasonal modes. We attempt to determine the predictability sources for the four modes in the EA-WNPSM using physical-empirical model. The selected predictors are based on the persistent and tendency signals of the SST/2m air temperature and sea level pressure fields, which reflect the asymmetric response to the ENSO and the ocean and land surface anomalous conditions. For the preMeiyu&Baiu mode, the SST cooling tendency over the WNP, which persists into summer, is the distinguishing contributor which is causative of north-south thermal contrast. Since the Changma&Meiyu mode is strongly related to the WNP subtropical high, a major precursor is the persistent SST difference between the Indian Ocean and the western Pacific. The WNPSM mode is mostly affected by the

Congenital absence of the portal vein in a boy

International Nuclear Information System (INIS)

Kohda, E.; Hiramatsu, K.; Saeki, Morihiro; Nakano, Miwako; Masaki, Hidekazu; Ogawa, Kenji; Nirasawa, Mali

1999-01-01

Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had no associated liver tumour and two had no additional congenital abnormality. Conversely, 13 of the 15 female patients had congenital abnormalities and 6 had liver mass lesions. (orig.)

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L; Urhoj, S K; Kjærgaard, J

2017-01-01

Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

Science.gov (United States)

Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz

2018-01-01

Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors

Potential implications of the helical heart in congenital heart defects.

Science.gov (United States)

Corno, Antonio F; Kocica, Mladen J

2007-01-01

The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

Congenital portosystemic shunts with and without gastrointestinal bleeding - case series

Energy Technology Data Exchange (ETDEWEB)

Gong, Ying; Chen, Jun; Chen, Qi; Ji, Min; Pa, Mier; Qiao, Zhongwei [Children' s Hospital of Fudan University, Department of Radiology, Shanghai (China); Zhu, Hui [Fudan University Shanghai Cancer Center, Department of Radiology, Shanghai (China); Zheng, Shan [Children' s Hospital of Fudan University, Department of Surgery, Shanghai (China)

2015-12-15

The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high. (orig.)

Helical CT of congenital ossicular anomalies

International Nuclear Information System (INIS)

Osada, Hisato; Machida, Kikuo; Honda, Norinari

2001-01-01

Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Directory of Open Access Journals (Sweden)

David Neubauer

2001-07-01

Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

Skeletal changes in congenital fibrinogen abnormalities

Energy Technology Data Exchange (ETDEWEB)

Lagier, R.; Bouvier, C.A.; van Strijthem, N.

1980-01-01

We report anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae. The radiologic lesions in a second case, diagnosed as congenital dysfibrinogenemia, are similar to those found in Case 1 (femoral trabeculae remodelling) but also resemble some alterations described in hemophilia (pseudotumor of the right iliac bone). Anatomic study of the lesions in Case 2 was not possible. The significance of these observations could be better defined by a more extended skeletal study (radiologic and when feasible anatomic) of patients with congenital clotting defects and especially with inherited disorders of the fibrinogen molecule. It would also be worthwhile investigating manifest or latent hemostatic disorders (particularly at the fibrinogen level) in patients with solitary or aneurysmal bone cysts, and even with bone infarct or unexplained trabecular remodelling.

Congenital heart defects in Williams syndrome.

Science.gov (United States)

Yuan, Shi-Min

2017-01-01

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

Congenital urethral polyps: a report of two cases

International Nuclear Information System (INIS)

Cano, D.; Vivas, I.; Torres, E.; Garcia, L.; Fernandez-Villa, T.

1999-01-01

Congenital urethral polyps are uncommon lesions, very few cases of which have been previously reported in the literature. We present two cases of congenital urethral polyps in children, describing the clinical and radiological features and the diagnostic method employed, as well as reviewing the literature. (Author) 6 refs

Aspects of surgery for congenital ventricular septal defect

NARCIS (Netherlands)

G. Bol-Raap (Goris)

2007-01-01

textabstractIn chapter 1, an outline of the thesis is given. This thesis focuses on aspects of surgical closure of a congenital ventricular septal defect. In Chapter 2, the accuracy and the potential of 3-D echocardiography in the preoperative assessment of a congenital VSD were evaluated. 3-D

Inhibitor development after liver transplantation in congenital factor VII deficiency.

Science.gov (United States)

See, W-S Q; Chang, K-O; Cheuk, D K-L; Leung, Y-Y R; Chan, G C-F; Chan, S-C; Ha, S-Y

2016-09-01

Congenital factor VII (FVII) deficiency is the commonest type of the rare bleeding disorders. Very few cases of congenital FVII deficiency developed inhibitor and liver transplant is considered as definitive treatment. In the literature, twelve patients with congenital FVII deficiency developed inhibitors. Two had spontaneous resolution of inhibitors and one did not respond to high dose recombinant factor VIIa (rFVIIa) and died. Regarding liver transplant in congenital FVII patients, seven patients underwent liver transplant with good prognosis. We report a 5-year-old girl with confirmed severe congenital FVII deficiency since neonatal period. She suffered from recurrent intracranial bleeding despite rFVIIa replacement. After auxiliary liver transplant at the age of 4, she continued to show persistent deranged clotting profile and was found to have inhibitor towards FVII. Interestingly, she was still responsive to rFVIIa replacement. © 2016 John Wiley & Sons Ltd.

Immunohistochemical localization of CYP1A, vitellogenin and Zona radiata proteins in the liver of swordfish (Xiphias gladius L.) taken from the Mediterranean Sea, South Atlantic, South Western Indian and Central North Pacific Oceans

International Nuclear Information System (INIS)

Desantis, S.; Corriero, A.; Cirillo, F.; Deflorio, M.; Brill, R.; Griffiths, M.; Lopata, A.L.; Serna, J.M. de la; Bridges, C.R.; Kime, D.E.; De Metrio, G.

2005-01-01

Cytochrome P4501A (CYP1A) monoxygenase, vitellogenin (Vtg) and Zona radiata proteins (Zrp) are frequently used as biomarkers of fish exposure to organic contaminants. In this work, swordfish liver sections obtained from the Mediterranean Sea, the South African coasts (South Atlantic and South Western Indian Oceans) and the Central North Pacific Ocean were immunostained with antisera against CYP1A, Zrp, and Vtg. CYP1A induction was found in hepatocytes, epithelium of the biliary ductus and the endothelium of large blood vessels of fish from the Mediterranean Sea and South African waters, but not from the Pacific Ocean. Zrp and Vtg were immunolocalized in hepatocytes of male swordfish from the Mediterranean Sea and from South African waters. Plasma Dot-Blot analysis, performed in Mediterranean and Pacific specimens, revealed the presence of Zrp and Vtg in males from Mediterranean but not from Pacific. These results confirm previous findings about the potential exposure of Mediterranean swordfish to endocrine, disrupting chemicals and raise questions concerning the possible presence of xenobiotic contaminants off the Southern coasts of South Africa in both the South Atlantic and South Western Indian Oceans

Folate deficiency in north Indian children undergoing maintenance chemotherapy for acute lymphoblastic leukemia-Implications and outcome.

Science.gov (United States)

Roy Moulik, Nirmalya; Kumar, Archana; Agrawal, Suraksha; Mahdi, Abbas Ali

2018-01-01

Treatment-related toxicity and mortality are not uncommon during maintenance chemotherapy for childhood acute lymphoblastic leukemia (ALL), especially in the low- and middle-income countries (LMIC). Undernutrition and micronutrient deficiencies are commonly seen in children from LMICs undergoing treatment for ALL. The present study examines the prevalence and clinical implications of folate deficiency in north Indian children with ALL during the maintenance phase of treatment in view of prolonged antifolate treatment and high population prevalence of folate deficiency. Pre-cycle folate levels/deficiency as well as weight for age z-score and serum albumin level were determined and correlated with complications of treatment and mortality encountered during the maintenance phase of treatment. Twenty-nine of 52 children enrolled in the study had folate deficiency at some point during maintenance chemotherapy. Neutropenia (18 of 29 vs. 4 of 23; P = 0.002), thrombocytopenia (17 of 29 vs. 4 of 23; P = 0.005), febrile neutropenia (17 of 29 vs. 4 of 23; P = 0.005), and need for chemotherapy dose reduction (20 of 29 vs. 7 of 21; P = 0.01) were more common in folate-deficient children. Maintenance deaths were higher (8 of 29 vs. 1 of 23; P = 0.03) and survival lower (P = 0.02) in deficient children. In multivariate analysis, hypoalbuminemia (P = 0.02) and folate deficiency (P = 0.01) were associated with febrile neutropenia, and folate deficiency with maintenance deaths (P = 0.03). Folate deficiency was associated with treatment-related complications and adverse outcome in our patients. The risks and benefits of folate supplementation in deficient children during maintenance chemotherapy need to be explored with properly designed randomized studies in similar settings. © 2017 Wiley Periodicals, Inc.

On diagnosis of congenital toxoplasmosis

International Nuclear Information System (INIS)

Denisova, L.B.; Vorontsova, S.V.; Shvedov, V.A.

1999-01-01

Chemical manifestations are considered and CT-semiotics of congenital toxoplasmosis, which can form intracranial calcinates, is described. Taking a certain case of congenital toxoplasmosis observation as an example the potentialities and significance of X-ray computerized tomography (CT) in the identification of brain pathological changes are demonstrated. It is shown that intracranial calcificates may be a sign of toxoplasmosis infection. In case of cytomegalovirus infection the calcificates on CT-scans have mostly periventricular localization. Equally with the revealing of brain status in case of chronic stage of neutrotoxoplasmosis the CT has also played a decisive role in diagnosis of pseudotumoroseus course of ischemic insult [ru

Anticoagulation in adults with congenital heart disease

DEFF Research Database (Denmark)

Jensen, A S; Idorn, L; Nørager, B

2015-01-01

Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts...

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

International Nuclear Information System (INIS)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

2017-01-01

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

Energy Technology Data Exchange (ETDEWEB)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

2017-12-15

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Severe congenital neutropenia

DEFF Research Database (Denmark)

Borregaard, Niels

2014-01-01

In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

[Congenital hyperthyroidism in maternal Basedow disease].

Science.gov (United States)

Meden, H; Rath, W

1989-09-01

A case of congenital hyperthyroidism, after pregnancy complicated by Graves' disease is presented. Fetal tachycardia was the cardial symptom. Caesarean section was performed in the 29 years old patient with normal thyroid function in the 29th week of pregnancy. The neonate showed symptoms of a congenital hyperthyroidism with goitre. Antithyroid antibodies were found in the serum of both mother and child. At the age of ten weeks, after a short course of thyrostatic treatment, the infant was discharged with normal thyroid function following complicationfree progress.

Reduced taste sensitivity in congenital blindness

DEFF Research Database (Denmark)

Gagnon, Lea; Kupers, Ron; Ptito, Maurice

2013-01-01

behavioral results showed that compared with the normal sighted, blind subjects have increased thresholds for taste detection and taste identification. This finding is at odds with the superior performance of congenitally blind subjects in several tactile, auditory and olfactory tasks. Our psychometric data...... thresholds of the 5 basic tastants in 13 congenitally blind and 13 sighted control subjects. Participants also answered several eating habits questionnaires, including the Food Neophobia Scale, the Food Variety Seeking Tendency Scale, the Intuitive Eating Scale, and the Body Awareness Questionnaire. Our...

Congenital generalized lipodystrophia: a case report

International Nuclear Information System (INIS)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.

2016-01-01

BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer...... studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. The congenital anomalies in the studies were classified according to the congenital anomaly subgroups of European Surveillance of Congenital Anomalies (EUROCAT). We compared the prevalence of specific...... and were not supported by other studies. No signals were found for the other newer AEDs, or the information was too limited to provide such a signal. CONCLUSION: In terms of associations between monotherapy with a newer AED in the first trimester of pregnancy and a specific congenital anomaly, the signals...

Maternal obesity and congenital heart defects: a population-based study123

Science.gov (United States)

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P heart defects with increasing maternal obesity (P heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

A hospital based study of biochemical markers of bone turnovers & bone mineral density in north Indian women

Science.gov (United States)

Kumar, Ashok; Devi, Salam Gyaneshwori; Mittal, Soniya; Shukla, Deepak Kumar; Sharma, Shashi

2013-01-01

Background & objectives: The osteoporotic risk for women increases soon after menopause. Bone turnover markers are known to be associated with bone loss and fracture risk. This study was aimed to assess bone turnover using bone markers and their correlation with bone mineral density (BMD) in pre- and post-menopausal women. Methods: A total of 255 healthy women (160 pre- and 95 post-menopausal) were enrolled. Serum bone alkaline phosphatase (sBAP) and serum N-terminal telopeptide of type I collagen (NTX) were measured to evaluate the bone formation and resorption, respectively. Bone mineral density was determined at lumbar spine (L2-L4) anteroposteriorly, femoral neck and Ward's triangle using Prodigy dual-energy X-ray absorptiometry (DXA) system. The comparison of years since menopause with respect to BMD and bone markers was also evaluated. Results: NTX and sBAP showed significant negative correlation with BMD of femur neck and Ward's triangle in postmenopausal women. BMD of all three sides were significant variables for NTX and BMD of femur neck and Ward's triangle for sBAP in postmenopausal women. BMD lumbar spine was a significant variable for sBAP in premenopausal women. The mean values of NTX increased significantly with increase in the duration of years since menopause. The BMD of all three sides decreased significantly with increase in the duration of years since menopause. Interpretation & conclusions: Serum NTX and sBAP were inversely correlated to BMD of femur neck and Ward's triangle in post-menopausal women. Simultaneous measurements of NTX and BMD in the north Indian women, suggest that bone resorption in women with low BMD remains high after menopause. PMID:23481051

Cobalamin and folate status predicts mental development scores in North Indian children 12-18 mo of age.

Science.gov (United States)

Strand, Tor A; Taneja, Sunita; Ueland, Per M; Refsum, Helga; Bahl, Rajiv; Schneede, Joern; Sommerfelt, Halvor; Bhandari, Nita

2013-02-01

Micronutrient deficiencies can affect cognitive function. Many young children in low- and middle-income countries have inadequate cobalamin (vitamin B-12) status. The objective was to measure the association of plasma concentrations of folate, cobalamin, total homocysteine, and methylmalonic acid with cognitive performance at 2 occasions, 4 mo apart, in North Indian children aged 12-18 mo. Bayley Scales of Infant Development II were used to assess cognition. In multiple regression models adjusted for several potential confounders, we measured the association between biomarkers for folate and cobalamin status and psychomotor or mental development scores on the day of blood sampling and 4 mo thereafter. Each 2-fold increment in plasma cobalamin concentration was associated with a significant increment in the mental development index score of 1.3 (95% CI: 0.2, 2.4; P = 0.021). Furthermore, each 2-fold increment in homocysteine or methylmalonic acid concentration was associated with a decrement in mental development index score of 2.0 (95% CI: 0.5, 3.4; P = 0.007) or 1.1 (95% CI: 0.3, 1.8; P = 0.004) points, respectively. Plasma folate concentration was significantly and independently associated with mental development index scores only when children with poor cobalamin status were excluded, ie, in those who had cobalamin concentrations below the 25th percentile. None of these markers was associated with psychomotor scores in the multiple regression models. Cobalamin and folate status showed a statistically significant association with cognitive performance. Given the high prevalence of deficiencies in these nutrients, folate and cobalamin supplementation trials are required to measure any beneficial effect on cognition.

Three-dimensional computed tomography in the assessment of congenital scoliosis

International Nuclear Information System (INIS)

Bush, C.H.; Kalen, V.

1999-01-01

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

Congenital anomalies in infants conceived by assisted reproductive techniques.

Science.gov (United States)

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

Maternal reproductive history and the risk of isolated congenital malformations.

Science.gov (United States)

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Arsenic in drinking water and congenital heart anomalies in Hungary.

Science.gov (United States)

Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

2014-11-01