Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

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Allelic variants of OsHKT1;1 underlie the divergence between indica and japonica subspecies of rice (Oryza sativa) for root sodium content.

Salinity is a major factor limiting crop productivity. Rice (Oryza sativa), a staple crop for the majority of the world, is highly sensitive to salinity stress. To discover novel sources of genetic variation for salt tolerance-related traits in rice, we screened 390 diverse accessions under 14 days of moderate (9 dS·m-1) salinity. In this study, shoot growth responses to moderate levels of salinity were independent of tissue Na+ content. A significant difference in root Na+ content was observed between the major subpopulations of rice, with indica accessions displaying higher root Na+ and japonica accessions exhibiting lower root Na+ content. The genetic basis of the observed variation in phenotypes was elucidated through genome-wide association (GWA). The strongest associations were identified for root Na+:K+ ratio and root Na+ content in a region spanning ~575 Kb on chromosome 4, named Root Na+ Content 4 (RNC4). Two Na+ transporters, HKT1;1 and HKT1;4 were identified as candidates for RNC4. Reduced expression of both HKT1;1 and HKT1;4 through RNA interference indicated that HKT1;1 regulates shoot and root Na+ content, and is likely the causal gene underlying RNC4. Three non-synonymous mutations within HKT1;1 were present at higher frequency in the indica subpopulation. When expressed in Xenopus oocytes the indica-predominant isoform exhibited higher inward (negative) currents and a less negative voltage threshold of inward rectifying current activation compared to the japonica-predominant isoform. The introduction of a 4.5kb fragment containing the HKT1;1 promoter and CDS from an indica variety into a japonica background, resulted in a phenotype similar to the indica subpopulation, with higher root Na+ and Na+:K+. This study provides evidence that HKT1;1 regulates root Na+ content, and underlies the divergence in root Na+ content between the two major subspecies in rice.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses. In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID. Transcriptome profiles of normal human brain tissues showed that the novel candidate ID genes formed a network significantly enriched for transcriptional co-expression (P<0.0001) in the frontal cortex during fetal development and in the temporal-parietal and sub-cortex during infancy through adulthood. In addition, proteins encoded by 12 novel ID genes directly interact with previously reported ID proteins in six known pathways essential for cognitive function (P<0.0001). These results suggest that disruptions of temporal parietal and sub-cortical neurogenesis during infancy are critical to the pathophysiology of ID. These findings further expand the existing repertoire of genes involved in ARID, and provide new insights into the molecular mechanisms and the transcriptome map of ID.

Studies on the biology, chemotherapy and distribution of warble fly in Pakistan.

This paper presents data on the prevalence, biology and control of warble fly infestation (WFI) in cattle and goats in Pakistan. A questionnaire for obtaining information on biology and prevalence was circulated amongst field veterinary staff and livestock farmers in all five provinces (Punjab, Sindh, Balochistan, Khyber Pakhtunkhwa [KPK] and Gilgit-Baltistan) and in the Federally Administered Tribal Areas of the country. A total of 1,019 questionnaires were received (Punjab = 296, Sindh = 246, KPK = 318, Balochistan = 151, Gilgit-Baltistan = 8). Warble fly infestation was reported from each province and from the federally administered tribal areas, particularly from hilly, semi-hilly and sandy desert areas (the Cholistan desert, which adjoins the Rehim Yar Khan, Bahawalpur and Bahawalnagar districts, and the Nara area of Sanghar district). Warbles (nodules) started appearing on the backs of the infested animals from September through December and disappeared from October through March. The prevalence of WFI varied from 5% to 75%. It was highest in hilly areas and gradually decreased towards the plains. A map was developed of warble fly-infested areas. Four field trials were conducted to study the efficacy of different drugs indicated for the control of warble fly infestation. A total of 2,094 cattle and 3,876 goats were given five different injectables (avermectins); namely, Ivomec, Endectin, Euvectin, Dectomax and Promectin (ivermectin) during the first three weeks of September. A control group was given normal saline. All the medicines were found to be effective in controlling infestation.

Small rodent communities and their associated damage to wheat-groundnut agriculture systems.

Rodents can cause significant damage to wheat-groundnut crops in developing countries, as well as to stored produce and infrastructure, affecting food security and income of small-holder farmers. Wheat (Triticum aestivum) and groundnuts (Arachis hypogea) are important cash crops for local farmers in Pakistan. Field experiments were performed to assess the extent of rodent damage to wheat-groundnut crops throughout their growth stages (i.e, germination, flowering/peg formation and maturity) in the agro-ecological zones of Pothwar Plateau, Pakistan. We used a quadrat method to record the number of damaged crop plants. On the basis of the trapping data four rodent species were captured from wheat-groundnut cropping systems which were responsible for causing damage, i.e., lesser bandicoot rat (Bandicota bengalensis) was the main species, followed by the short-tailed mole rat (Nesokia indica), the Indian gerbil (Tatera indica) and the bush rat (Golunda ellioti). In both crops, the maximum damage was recorded at crop maturity (10.7 and 14.4%, respectively). The lowest reported damage to wheat and groundnuts was at the germination stage (3.5% and 6.0%, respectively). The lower damage reported at germination could be due to availability of non-crop vegetation at field borders that may be a potential factor influencing damage. Our findings clearly show the considerable amount of damage caused by rodents to wheat-groundnut at maturity across all the agro-ecological zones of Pothwar and indicated that the small mammal composition was more related to maturity stage/season of crops, when the availability of food and climatic condition were favorable and having security under crop shelter. More detailed studies are needed to fully understand the population and breeding ecology of the relevant rodent pest species in relation to damage patterns to optimize management beyond individual structural measures.

Dietary habits of lesser bandicoot rat (Bandicota Bengalensis) in an agro-ecosystem, Pothwar Plateau, Pakistan.

Dietary habits of bandicoot rats (bandicota bengalensis) were investigated in the agricultural crops of the Pothwar Plateau, Pakistan by analysing stomach contents. The research activities were conducted in major field crops including wheat-groundnut and in the fallow lands during non-crop season at the field boundaries. The specimens were captured from the fields using kill/snap traps, and dissected to collect their stomach samples for laboratory analysis. Light microscopic slides of the plant material were recovered from stomach samples and the reference materials were collected from the field. Results revealed that the bandicoot rat predominantly fed upon cultivated crops during cropping season but consumed wild vegetation during non-cropping season. There was no significance difference between summer and winter diets. Most frequently consumed crop food items were wheat (Triticum aestivum; 28.57%), groundnut (Arachis hypogea; 11.26%), sorghum (Sorghum bicolor; 10.17%), chickpea (Cicer arietinum; 9.52%), maize (Zea mays; 6.49%), millet (Pennisetum glaucum; 5.84%), barley (Hordeum vulgare; 4.98%) and mustard (Brassica campestris; 4.98%). Among wild vegetation were consumed khbal gha (Cynodon dactylon; 7.79%), baron dhab (Demostachya bipinnata; 7.36%) and Prickly flower (Achyranthes aspera; 3.03%). The study concludes that, in addition to consuming wheat and groundnut crops, the Lesser bandicoot rat also subsists on grasses, weeds, and some fodder crops, as important component of its diet in agro-ecosystem of the Pothwar Plateau.

Dietary habits of lesser bandicoot rat (Bandicota Bengalensis) in an agro-ecosystem, Pothwar Plateau, Pakistan

Abstract Dietary habits of bandicoot rats (bandicota bengalensis) were investigated in the agricultural crops of the Pothwar Plateau, Pakistan by analysing stomach contents. The research activities were conducted in major field crops including wheat-groundnut and in the fallow lands during non-crop season at the field boundaries. The specimens were captured from the fields using kill/snap traps, and dissected to collect their stomach samples for laboratory analysis. Light microscopic slides of the plant material were recovered from stomach samples and the reference materials were collected from the field. Results revealed that the bandicoot rat predominantly fed upon cultivated crops during cropping season but consumed wild vegetation during non-cropping season. There was no significance difference between summer and winter diets. Most frequently consumed crop food items were wheat (Triticum aestivum; 28.57%), groundnut (Arachis hypogea; 11.26%), sorghum (Sorghum bicolor; 10.17%), chickpea (Cicer arietinum; 9.52%), maize (Zea mays; 6.49%), millet (Pennisetum glaucum; 5.84%), barley (Hordeum vulgare; 4.98%) and mustard (Brassica campestris; 4.98%). Among wild vegetation were consumed khbal gha (Cynodon dactylon; 7.79%), baron dhab (Demostachya bipinnata; 7.36%) and Prickly flower (Achyranthes aspera; 3.03%). The study concludes that, in addition to consuming wheat and groundnut crops, the Lesser bandicoot rat also subsists on grasses, weeds, and some fodder crops, as important component of its diet in agro-ecosystem of the Pothwar Plateau.

Resumo Os hábitos alimentares de ratos bandicoot (Bandicota bengalensis) foram investigados nas plantações agrícolas do planalto de Pothwar, Paquistão, por meio da análise do conteúdo estomacal. As atividades da pesquisa foram conduzidas nas principais culturas de campo, incluindo trigo e amendoim, e em terras de pousio durante a estação não agrícola nos limites do campo. Os espécimes foram capturados dos campos usando armadilhas kill/snap e dissecados para coletar suas amostras de estômago para análise laboratorial. Lâminas de microscopia de luz do material vegetal foram recuperadas de amostras de estômago; os materiais de referência foram coletados no campo. Os resultados revelaram que o rato bandicoot alimentava-se predominantemente de culturas cultivadas durante a época de cultivo, mas consumia vegetação selvagem durante a época de não colheita. Não houve diferença significativa entre as dietas de verão e inverno. Os alimentos agrícolas mais frequentemente consumidos foram trigo (Triticum aestivum; 28,57%), amendoim (Arachis hypogea; 11,26%), sorgo (Sorghum bicolor; 10,17%), grão de bico (Cicer arietinum; 9,52%), milho (Zea mays; 6,49%), milheto (Pennisetum glaucum; 5,84%), cevada (Hordeum vulgare; 4,98%) e mostarda (Brassica campestris; 4,98%). Entre a vegetação silvestre foram consumidos khbal gha (Cynodon dactylon; 7,79%), barão dhab (Demostachya bipinnata; 7,36%) e flor espinhosa (Achyranthes aspera; 3,03%). O estudo conclui que, além de consumir culturas de trigo e amendoim, o rato bandicoot pequeno também subsiste de gramíneas, ervas daninhas e algumas culturas forrageiras, componentes importantes de sua dieta no agroecossistema do planalto de Pothwar.

Dietary habits of lesser bandicoot rat (Bandicota Bengalensis) in an agro-ecosystem, Pothwar Plateau, Pakistan / Hábitos alimentares de rato bandicoot (Bandicota Bengalensis) em um agroecossistema do Planalto de Pothwar, Paquistão

Abstract Dietary habits of bandicoot rats (bandicota bengalensis) were investigated in the agricultural crops of the Pothwar Plateau, Pakistan by analysing stomach contents. The research activities were conducted in major field crops including wheat-groundnut and in the fallow lands during non-crop season at the field boundaries. The specimens were captured from the fields using kill/snap traps, and dissected to collect their stomach samples for laboratory analysis. Light microscopic slides of the plant material were recovered from stomach samples and the reference materials were collected from the field. Results revealed that the bandicoot rat predominantly fed upon cultivated crops during cropping season but consumed wild vegetation during non-cropping season. There was no significance difference between summer and winter diets. Most frequently consumed crop food items were wheat (Triticum aestivum; 28.57%), groundnut (Arachis hypogea; 11.26%), sorghum (Sorghum bicolor; 10.17%), chickpea (Cicer arietinum; 9.52%), maize (Zea mays; 6.49%), millet (Pennisetum glaucum; 5.84%), barley (Hordeum vulgare; 4.98%) and mustard (Brassica campestris; 4.98%). Among wild vegetation were consumed khbal gha (Cynodon dactylon; 7.79%), baron dhab (Demostachya bipinnata; 7.36%) and Prickly flower (Achyranthes aspera; 3.03%). The study concludes that, in addition to consuming wheat and groundnut crops, the Lesser bandicoot rat also subsists on grasses, weeds, and some fodder crops, as important component of its diet in agro-ecosystem of the Pothwar Plateau.

Resumo Os hábitos alimentares de ratos bandicoot (Bandicota bengalensis) foram investigados nas plantações agrícolas do planalto de Pothwar, Paquistão, por meio da análise do conteúdo estomacal. As atividades da pesquisa foram conduzidas nas principais culturas de campo, incluindo trigo e amendoim, e em terras de pousio durante a estação não agrícola nos limites do campo. Os espécimes foram capturados dos campos usando armadilhas kill/snap e dissecados para coletar suas amostras de estômago para análise laboratorial. Lâminas de microscopia de luz do material vegetal foram recuperadas de amostras de estômago; os materiais de referência foram coletados no campo. Os resultados revelaram que o rato bandicoot alimentava-se predominantemente de culturas cultivadas durante a época de cultivo, mas consumia vegetação selvagem durante a época de não colheita. Não houve diferença significativa entre as dietas de verão e inverno. Os alimentos agrícolas mais frequentemente consumidos foram trigo (Triticum aestivum; 28,57%), amendoim (Arachis hypogea; 11,26%), sorgo (Sorghum bicolor; 10,17%), grão de bico (Cicer arietinum; 9,52%), milho (Zea mays; 6,49%), milheto (Pennisetum glaucum; 5,84%), cevada (Hordeum vulgare; 4,98%) e mostarda (Brassica campestris; 4,98%). Entre a vegetação silvestre foram consumidos khbal gha (Cynodon dactylon; 7,79%), barão dhab (Demostachya bipinnata; 7,36%) e flor espinhosa (Achyranthes aspera; 3,03%). O estudo conclui que, além de consumir culturas de trigo e amendoim, o rato bandicoot pequeno também subsiste de gramíneas, ervas daninhas e algumas culturas forrageiras, componentes importantes de sua dieta no agroecossistema do planalto de Pothwar.

Deploying unqualified personnel in health records practice: Role substitution or quackery? Implications for health services delivery in Nigeria.

Healthcare professionals are obliged to work collaboratively regardless of their professional differences in order to provide the highest possible standard of care to patients. However, this type of collaboration can also lead to role substitution and, in effect, engagement of unqualified personnel in all health professions, including the health information management profession. This is a particular problem in developing nations such as Nigeria, where this trend has the potential to undermine the delivery of health services, the quality and the confidentiality of health information and trust between patients and healthcare professionals. To clarify and protect the professional identity of qualified health information management professionals in Nigeria and to prevent other experts who also work in health facilities (e.g. IT specialists, librarians) from claiming membership of the profession, the nomenclature for the health information management profession has been changed to health records and information management profession.

Seroprevalence, associated risk factors and hematological impacts of toxoplasmosis in small ruminants of Multan, Punjab-Pakistan.

Toxoplasmosis is a protozoal infection of zoonotic potential with worldwide geographical distribution which affects nearly all warm-blooded animals including mammals and birds. Keeping in view, this study was conducted to determine the seroprevalence of toxoplasmosis along with associated risk factors and its haematological impacts in small ruminants of district Multan, Pakistan. In this study, a total of 250 sera samples collected from sheep (n=125) and goats (n=125) from three tehsils of Multan were examined using commercially available Latex agglutination test kit for the presence of anti-T. gondii antibodies. The haematological profiles of Toxoplasma seropositive and seronegative animals were determined by using automated haematology analyser. Overall seroprevalence of toxoplasmosis in small ruminants was 42.80% with a higher prevalence rate (44.80%) in sheep as compared to goats (40.80%). Sex, existence of co-morbid conditions, feeding pattern and presence of pet cats and dogs were identified as significant (P<0.05) risk factors associated with the presence of antibodies against toxoplasmosis. The breed was found to be a significant (P=0.026) risk factor for the seroprevalence of toxoplasmosis in goats but not in sheep. Haematological analysis revealed significantly altered leukocytic counts (P<0.05) in seropositive sheep and goats as compared to seronegative ones. Our findings showed that small ruminants of the Multan District in Pakistan are toxoplasma seropositive and may pose a serious threat of public health concern in the region.

Characterisation of the gene for Drosophila amphiphysin.

A sequence similarity search of the Drosophila nucleotide database using vertebrate amphiphysin as a query identified a cDNA that encodes a Drosophila amphiphysin. The predicted protein has conserved sequence domains that should enable it to dimerise and bind to dynamin. Structural modelling suggests that the Src-homology-3 (SH3) domains of vertebrate and Drosophila amphiphysins are highly similar, supporting the putative ability of the latter to bind dynamin. However, the fly amphiphysin shows less conservation to sequences in the vertebrate amphiphysins that bind other endocytic components such as clathrin, AP-2 and endophilin. Amphiphysin is a single-copy gene that maps to position 49B on polytene chromosomes. Messenger RNA of this amphiphysin is expressed widely during embryogenesis and has elevated expression in a number of sites including the foregut, hindgut and epidermis, but not in the central nervous system. Taken together, these data are consistent with a role for Drosophila amphiphysin in endocytosis, but the details of this role may differ from that of vertebrate amphiphysins.

Case report: coexistence of acute calcific periarthritis and infection.

Basic calcium phosphate (BCP) crystal deposition around the joints may sometimes lead to an acute inflammatory condition called calcific periarthritis. In this article, the authors describe a 62-year-old man with BCP crystal-induced periarthritis coexisting with an infection. Rheumatoid arthritis and crystal-induced synovitis complicated by infection has been described in the literature. To date, this is the first report of coexistent calcific periarthritis and an infection.

Determinants of 30-day mortality of spontaneous intracerebral hemorrhage in Pakistan.

BACKGROUND: The present study was undertaken to evaluate the determinants of acute (30-day) mortality after spontaneous intracerebral hemorrhage (ICH) in a developing country setting, and to compare these findings with those available from studies conducted in the West. METHODS: Medical records of 146 patients admitted to a major tertiary hospital in Karachi, Pakistan between 1990 and 1991 with a diagnosis of spontaneous ICH were reviewed. The level and intensity of care provided to these patients was similar to that available at modern neurosurgical centers. The salient prognostic indicators that were studied included hypertension, pulse pressure, GCS score, neurologic deficits, and CT-scan predictors including site, size, and intraventricular spread of hemorrhage. These data were used to determine independent predictors of 30-day mortality by univariate and multivariate analysis. Additionally, 30-day survival probabilities for these outcome predictors were also computed. RESULTS: The 30-day mortality after spontaneous ICH was 39.7%. Two-thirds of the patients had a history of hypertension. The important clinical predictors at the multivariate level included GCS score < or =8 and progressive increase in pulse pressure. The CT scan predictors included intraventricular spread of hemorrhage, ventricular enlargement, and size of the bleed. Location of the lesion did not appear to significantly influence mortality. Survival analysis showed a large clustering of deaths within the first 72 hours of hospitalization. CONCLUSIONS: The 30-day mortality rate and prognostic predictors for spontaneous intracerebral hemorrhage were found to be similar to those reported in the Western hemisphere. However, the correlation of incremental increase in pulse pressure with deteriorating prognosis was a new and significant finding.

Gunshot wounds of the abdomen: association of surface wounds with internal injuries.

OBJECTIVE: To evaluate and quantify the correlation between surface wounds and internal injuries. METHODS: The medical records of 55 patients, admitted over a two year period with a diagnosis of gunshot wound of abdomen, were reviewed retrospectively. Imaginary trajectories of each bullet track were reconstructed on real scale abdominal anatomy models, and data regarding expected injuries was obtained. This data was then matched with the laparotomy findings for each patient and the percent correlation between observed and expected injuries was calculated. RESULTS: The mean correlation between expected and observed injuries was found to be 31%. Most of the wounds were in the upper abdomen, and the correlation was strongest for fixed organs such as liver and lowest for mobile viscera like small intestine. CONCLUSIONS: The assessment of internal injuries on the basis of entrance and exit wounds is hazardous, due to cavitation and ricochet effects of bullets. The chances of visceral injuries remote from the trajectory are greater than 50%.

CT and MR imaging in young stroke patients.

BACKGROUND: This study investigates the role of CT and MR imaging in the diagnosis and management of young stroke patients. METHODS: CT scan findings of 108 patients and MR findings of 30 patients between 15-45 years of age were reviewed retrospectively. The variables included the territory of infarct on CT and MR imaging, the cortical distribution and size of infarct. RESULTS: About 80% of the patients had infarcts of the carotid territory and 20% the vertebro-basilar distribution. More than half of the infarcts were cortical (56%). The yield of MR imaging was much higher for deeper structures such as basal ganglia, thalamus and brainstem. In half the cases, the infarct size was more than 3 cm. CONCLUSION: The ratio of carotid to vertebro-basilar infarcts was similar to that reported previously. A large proportion of the carotid territory infarcts were cortical. Deeper infarcts were better imaged with MR scan. There was a high proportion of large infarcts.

Ischemic stroke in young adults of South Asia.

OBJECTIVE: To study the risk factors, etiology and management of ischemic stroke in young adults in a South Asian population. METHODS: Retrospective study conducted at a large tertiary hospital in Karachi. One hundred and eighteen patients between fifteen and forty-five years admitted over a five year period with a diagnosis of ischemic infarct constituted the study population. The study variables included the full clinical spectrum, spanning historical, laboratory, radiological and outcome parameters. RESULTS: Forty-three percent of patients were hypertensive and 30% were diabetic. The combination of diabetes and hypertension was found in 19.5% of patients, intra-cranial and carotid artherosclerosis in 22% and embolism in 11% of the cases. The in-hospital mortality was 11%. The outcome was excellent in 27%, good in 50% and poor in 23% of patients. CONCLUSION: The risk factors for artherosclerosis and the contribution of intra and extra-cranial artherosclerosis were found to be much higher than those from the Western Hemisphere.

Carotid Doppler ultrasonography in young stroke patients.

BACKGROUND: The present study focuses on the role of carotid doppler ultrasonography (CDUS) in the diagnosis and management of carotid stenosis in young stroke patients. METHODS: The findings of carotid doppler in 45 ischemic stroke patients between 15-45 years of age were reviewed retrospectively. The variables of interest for this study included risk factors for atherosclerotic disease, primary abnormality detected on carotid doppler ultrasonography (ulceration vs. stenosis), degree of stenosis and the type of plaque (soft vs. calcified). RESULTS: The prevalence of hypertension and diabetes was 50% and 35% respectively. The rate of carotid stenosis in the study population was found to be 31%. The degree of stenosis was mild in 35% and moderate in 21%. High-grade stenosis was found in 21% of patients. The plaque was soft in the majority of cases (43%). CONCLUSION: The proportion of carotid stenosis in young stroke patients was relatively high compared with previous studies. This may be due to an increase in the risk factors for atherosclerotic disease in developing countries.