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BACKGROUND: Pakistan is one of the two countries endemic for wild poliovirus type 1 (WPV1). Active clinical and environmental wastewater surveillance along with laboratory investigation is an integral and primary component of the polio eradication strategies. The current study is mainly focused on the virological data to understand the current epidemiology of WPV1 in Pakistan during 2019-2022. METHODS: 141,037 stool specimens of patients reported with acute flaccid paralysis (AFP) and 3,171 wastewater samples were tested for poliovirus detection using cell culture and PCR. Phylogenetic analysis of WPV1 was performed using MEGA and Nextstrain. RESULTS: Poliovirus isolates were classified into 15 distinct genetic clusters with multiple transmission lineages. Spatio-temporal trends indicated a significant decline in the incidence of poliomyelitis reported in 58 districts in 2019 to just 3 in 2022. The historical reservoirs in Peshawar, Quetta, and Karachi successfully eliminated the indigenous transmission chains of wild poliovirus active there for years. CONCLUSIONS: Our findings reinforce the evolving epidemiology of poliovirus in Pakistan which is now confined to South KP. All historically known reservoirs in Peshawar, Karachi and Quetta blocs are now free of poliovirus. Intensified clinical and environmental surveillance should be maintained to eliminate the very few remaining transmission lineages and certify the poliovirus eradication by 2026.
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The presence of hazardous dyes in wastewater poses significant threats to both ecosystems and the natural environment. Conventional methods for treating dye-contaminated water have several limitations, including high costs and complex operational processes. This study investigated a sustainable bio-sorbent composite derived from the Capparis decidua plant and eggshells, and evaluated its effectiveness in removing anionic dyes namely tartrazine (E-102), methyl orange (MO), and their mixed system. The research examines the influence of initial concentration, contact time, pH, adsorbent dosage, and temperature on the adsorption properties of anionic dyes. Optimal removal of tartrazine (E-102), methyl orange (MO), and their mixed system was achieved at a pH of 3. The equilibrium was achieved at 80 min for MO and mixed systems, and 100 min for E-102. The adsorption process showed an exothermic nature, indicating reduced capacity with increasing temperature, consistent with heat release during adsorption. Positive entropy values indicated increased disorder at the solid-liquid interface, attributed to molecular rearrangements and interactions between dye molecules and the adsorbent. Isotherm analysis using Langmuir, Freundlich, Temkin, and Redlich-Peterson models revealed that the Langmuir model best fit the experimental data. The maximum adsorption capacities of 50.97 mg/g, 52.24 mg/g, and 56.23 mg/g were achieved for E-102, MO, and the mixed system under optimized conditions, respectively. The pseudo-second-order kinetic model demonstrated the best fit, indicating that adsorption occurs through physical and chemical interactions such as electrostatic attraction, pore filling, and hydrogen bonding. Hence, the developed bio-sorbent could be a sustainable and cost-effective solution for the treatment of anionic dyes from industrial effluents.
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Compuestos Azo , Capparis , Contaminantes Químicos del Agua , Purificación del Agua , Animales , Femenino , Colorantes/química , Tartrazina , Cáscara de Huevo/química , Ecosistema , Purificación del Agua/métodos , Indicadores y Reactivos , Decidua/química , Adsorción , Cinética , Concentración de Iones de Hidrógeno , Contaminantes Químicos del Agua/análisisRESUMEN
Textile and pharmaceutical effluents contain significant amounts of dyes and antibiotics, which pose a serious threat to the ecosystem when discharged directly. Therefore, they should be treated by facile treatment techniques using low-cost materials. Layered double hydroxide (LDH) and its hybrids have emerged as robust and economic adsorbents for water treatment. Herein, magnesium/aluminum LDH and its starch-based composite were synthesized by a co-precipitation technique. The physicochemical features of the developed adsorbents were thoroughly characterized using various analytical tools. The developed materials were tested for the eradication of methylene blue (MB) and amoxicillin (AMX) in batch mode adsorption by varying operating conditions. Adsorption performance depends on the solution's pH. Under optimum adsorption conditions of pH 11, adsorbent dosage of 50 mg/L, and treatment time of 120 min, starch-impregnated MgAl-LDH exhibited maximum MB and AMX adsorption capacities of 114.94 and 48.08 mg/g, respectively. The adsorption mechanism states that hydrogen bonds and weak van der Waals forces are responsible for the removal of pollutants by the developed materials. Moreover, equilibrium and kinetic studies revealed that the removal of dye and antibiotic followed the Freundlich and Langmuir models with the pseudo-second-order reaction kinetics, respectively. The spent adsorbents were regenerated using 0.1 M HCl (for MB) and methanol (for AMX) eluent, and reusability studies ensured that the developed adsorbents retained their performance for up to four consecutive adsorption/desorption cycles. MgAl-LDH and its starch-based hybrid could thus be used to effectively remove organic contaminants from wastewater streams on a commercial scale.
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Azul de Metileno , Contaminantes Químicos del Agua , Cinética , Azul de Metileno/química , Adsorción , Amoxicilina , Ecosistema , Contaminantes Químicos del Agua/química , Hidróxidos/química , Colorantes , Antibacterianos , Concentración de Iones de HidrógenoRESUMEN
BACKGROUND: Elimination of poliovirus in Pakistan and Afghanistan is challenged by notions against the role of oral poliovirus vaccine (OPV) in eradicating contemporary wild poliovirus (WPV) strains. METHODS: A total of 1055 WPV type 1 (WPV1) strains isolated between 2013 and 2018 were categorized into 68 antigenic groups and tested for neutralization by OPV-derived antibodies. Molecular docking was conducted to determine neutralization efficiency of antibodies against WPV. The clinical significance of WPV1 variants was assessed to ascertain their role in patient outcomes. RESULTS: We found that 88% of WPV1 strains isolated from paralytic children belonged to a single antigenic lineage identical to the WPV1 strain detected in 1993. WPV1 antigenic variants were effectively neutralized by OPV-derived antibodies, with geometric mean titers comparable to the neutralization titers found for 3 strains in OPV (OPV1-3, 7.96-9.149 [95% confidence interval, 6.864-10.171]; WPV1 strains, 7.542-8.786 [6.493-9.869]). Docking examination underscored a strong antigen-antibody interaction despite variations within the viral protein 1 epitopes. There was no significant association (P = .78) with clinical prognosis among patients infected with antigenically diverse WPV1 strains and patient outcomes, including death. CONCLUSIONS: Our findings substantiate the robustness of OPV for neutralizing the contemporary WPV1 strains endemic in Pakistan and Afghanistan. Vaccination coverage must be augmented to achieve early eradication.
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Poliomielitis , Poliovirus , Niño , Erradicación de la Enfermedad , Humanos , Programas de Inmunización , Simulación del Acoplamiento Molecular , Pakistán/epidemiología , Poliomielitis/epidemiología , Poliomielitis/prevención & control , Vacuna Antipolio Oral , Vigilancia de la PoblaciónRESUMEN
BACKGROUND: Pakistan is among 3 countries endemic for wild poliovirus type 1 (WPV1) circulation that are still struggling for eradication of poliomyelitis. Active clinical and environmental surveillance with meticulous laboratory investigations provide insights into poliovirus transmission patterns and genomic diversity to inform decisions for strategic operations required to achieve eradication. METHODS: We analyzed epidemiological and virological data to comprehend the current epidemiological status of WPV1 in Pakistan during 2015-2017. Stool specimens of patients with acute flaccid paralysis (AFP) and sewage samples collected from 60 environmental sites were tested. Viral culturing, intratypic differentiation by real-time polymerase chain reaction, and nucleic acid sequencing of the VP1 region of the poliovirus genome to determine genetic relatedness among WPV1 strains were applied. RESULTS: Poliovirus isolates were grouped into 11 distinct clusters, which had ≥95% nucleotide homology in the VP1 coding region. Most of the poliovirus burden was shared by 3 major reservoirs: Karachi, Peshawar, and Quetta block (64.2% in 2015, 75.4% in 2016, and 76.7% in 2017). CONCLUSIONS: Environmental surveillance reveals importations and pockets of unimmunized children that dictate intensive target mop-up campaigns to contain poliovirus transmission. A decrease in the number of orphan isolates reflects effective combination of AFP and environmental surveillance in Pakistan. The genetic data reflect sustained transmission within reservoir areas, further expanded by periodic importations to areas of high immunity reflected by immediate termination of imported viruses. Improved immunization coverage with high-quality surveillance is vital for global certification of polio eradication.
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Poliomielitis , Poliovirus , Niño , Erradicación de la Enfermedad , Humanos , Epidemiología Molecular , Pakistán/epidemiología , Poliomielitis/epidemiología , Poliomielitis/prevención & control , Poliovirus/genética , Vacuna Antipolio Oral , Vigilancia de la PoblaciónRESUMEN
Global poliovirus surveillance involves virus isolation from stool and environmental samples, intratypic differential (ITD) by PCR, and sequencing of the VP1 region to distinguish vaccine (Sabin), vaccine-derived, and wild-type polioviruses and to ensure an appropriate response. This cell culture algorithm takes 2 to 3 weeks on average between sample receipt and sequencing. Direct detection of viral RNA using PCR allows faster detection but has traditionally faced challenges related to poor sensitivity and difficulties in sequencing common samples containing poliovirus and enterovirus mixtures. We present a nested PCR and nanopore sequencing protocol that allows rapid (<3 days) and sensitive direct detection and sequencing of polioviruses in stool and environmental samples. We developed barcoded primers and a real-time analysis platform that generate accurate VP1 consensus sequences from multiplexed samples. The sensitivity and specificity of our protocol compared with those of cell culture were 90.9% (95% confidence interval, 75.7% to 98.1%) and 99.2% (95.5% to 100.0%) for wild-type 1 poliovirus, 92.5% (79.6% to 98.4%) and 98.7% (95.4% to 99.8%) for vaccine and vaccine-derived serotype 2 poliovirus, and 88.3% (81.2% to 93.5%) and 93.2% (88.6% to 96.3%) for Sabin 1 and 3 poliovirus alone or in mixtures when tested on 155 stool samples in Pakistan. Variant analysis of sequencing reads also allowed the identification of polioviruses and enteroviruses in artificial mixtures and was able to distinguish complex mixtures of polioviruses in environmental samples. The median identity of consensus nanopore sequences with Sanger or Illumina sequences from the same samples was >99.9%. This novel method shows promise as a faster and safer alternative to cell culture for the detection and real-time sequencing of polioviruses in stool and environmental samples.
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Secuenciación de Nanoporos , Poliomielitis , Poliovirus , Monitoreo del Ambiente , Heces , Humanos , Poliomielitis/diagnóstico , Poliovirus/genética , Vacuna Antipolio OralRESUMEN
BACKGROUND: Pneumonia-associated septic shock (PASS) in patients with cancer inflicts healthcare burden attributed to high morbidity and mortality. Current study was aimed to evaluate the clinical outcomes, microbiological characteristics, risk factors and impact of life-support interventions on 28-day mortality among cancer patients with PASS. METHODS: A prospective observational study was conducted among cancer patients with PASS admitted to intensive care unit (ICU) of 'Shaukat Khanum Memorial Cancer Hospital'. Data were analysed using appropriate statistical methods. RESULTS: Out of 100 patients who sought medical care during the study period, 59 (59%) were male and majority had solid tumour than haematological malignancies (68% vs 32%). Nosocomial pneumonia was most frequent (90%) followed by healthcare-associated pneumonia (HCAP) (9%) and community-acquired pneumonia (CAP) (1%). The most common causative pathogen was Pseudomonas aeruginosa, 21 (32%). Overall mortality rate was 76% including 15% hospital and 61% ICU mortality. Sequential Organ Failure Assessment (SOFA) score at first day (HR 3.8; 95% CI 1.7 to 8.9; p=0.002), SOFA score at seventh day (HR 8.9; 95% CI 3.6 to 22.7; p=<0.001), invasive mechanical ventilation (HR 8.0; 95% CI 3.2 to 20; p<0.001) and performance status (HR 5.4; 95% CI 2.5 to 11.3; p<0.001) were found to be independently associated with 28-day mortality. Receiver operating characteristic curve analysis accentuates the excellent predictive accuracy of Cox regression model for mortality indicated by area under the curve of 0.892 (95% CI 0.801 to 0.983, p<0.001). CONCLUSION: Our analysis demonstrates substantial mortality associated with PASS among patients with cancer. Timely recognition of patients with high predilection of increased mortality could be of value in improving the disease burden.
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Neoplasias/mortalidad , Neumonía/mortalidad , Choque Séptico/mortalidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Unidades de Cuidados Intensivos , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Neumonía/microbiología , Estudios Prospectivos , Factores de Riesgo , Choque Séptico/microbiologíaRESUMEN
Despite the availability of an effective vaccine, the measles virus continues to cause significant morbidity and mortality in children worldwide. Molecular characterization of wild-type measles strains is an invaluable component of epidemiological studies or surveillance systems that provides important information pertinent to outbreak linkages and transmission pathways. Serum samples and throat swabs were collected from suspected measles cases from the Punjab province of Pakistan (2013-2015) and further tested for measles immunoglobulin M (IgM) through enzyme-linked immunosorbent assay and reverse-transcriptase polymerase chain reaction for molecular characterization. Among the total of 5415 blood samples, 59% tested positive for measles IgM. Males had a higher infection rate (55%) than females (45%), and the highest frequency of positive cases (63%) was found in the age group of 0 to 5 years. Partial sequencing of the nucleoprotein gene showed that 27 strains belonged to the B3 genotype, whereas 2 viruses were identified as D4. On phylogenetic analysis, Pakistani B3 strains were found to be closely related to previously reported indigenous strains and those from neighboring countries of Iran and Qatar. This is the first report on the detection of the measles B3 genotype from Punjab, Pakistan. The current study shows a high burden of measles infections in Punjab province owing to poor routine immunization coverage in major cities. It is imperative that national health authorities adopt strategic steps on an urgent basis for improvement of routine immunization coverage. Molecular epidemiology of the measles viruses circulating in different parts of the country can provide useful data to manage future outbreaks.
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Brotes de Enfermedades , Genotipo , Virus del Sarampión/clasificación , Virus del Sarampión/genética , Sarampión/epidemiología , Adolescente , Factores de Edad , Anticuerpos Antivirales/sangre , Niño , Preescolar , Transmisión de Enfermedad Infecciosa , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Inmunoglobulina M/sangre , Lactante , Recién Nacido , Masculino , Virus del Sarampión/aislamiento & purificación , Epidemiología Molecular , Proteínas de la Nucleocápside , Nucleoproteínas/genética , Pakistán/epidemiología , Faringe/virología , Filogenia , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ADN , Suero/virología , Factores Sexuales , Proteínas Virales/genética , Adulto JovenRESUMEN
Text categorization has been used extensively in recent years to classify plain-text clinical reports. This study employs text categorization techniques for the classification of open narrative forensic autopsy reports. One of the key steps in text classification is document representation. In document representation, a clinical report is transformed into a format that is suitable for classification. The traditional document representation technique for text categorization is the bag-of-words (BoW) technique. In this study, the traditional BoW technique is ineffective in classifying forensic autopsy reports because it merely extracts frequent but discriminative features from clinical reports. Moreover, this technique fails to capture word inversion, as well as word-level synonymy and polysemy, when classifying autopsy reports. Hence, the BoW technique suffers from low accuracy and low robustness unless it is improved with contextual and application-specific information. To overcome the aforementioned limitations of the BoW technique, this research aims to develop an effective conceptual graph-based document representation (CGDR) technique to classify 1500 forensic autopsy reports from four (4) manners of death (MoD) and sixteen (16) causes of death (CoD). Term-based and Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT) based conceptual features were extracted and represented through graphs. These features were then used to train a two-level text classifier. The first level classifier was responsible for predicting MoD. In addition, the second level classifier was responsible for predicting CoD using the proposed conceptual graph-based document representation technique. To demonstrate the significance of the proposed technique, its results were compared with those of six (6) state-of-the-art document representation techniques. Lastly, this study compared the effects of one-level classification and two-level classification on the experimental results. The experimental results indicated that the CGDR technique achieved 12% to 15% improvement in accuracy compared with fully automated document representation baseline techniques. Moreover, two-level classification obtained better results compared with one-level classification. The promising results of the proposed conceptual graph-based document representation technique suggest that pathologists can adopt the proposed system as their basis for second opinion, thereby supporting them in effectively determining CoD.
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Autopsia/métodos , Causas de Muerte , Medicina Legal/métodos , Informática Médica/métodos , Systematized Nomenclature of Medicine , Algoritmos , Automatización , Gráficos por Computador , Humanos , Almacenamiento y Recuperación de la Información , Aprendizaje Automático , Programas InformáticosRESUMEN
Electrocardiography (ECG) sensors play a vital role in the Internet of Medical Things, and these sensors help in monitoring the electrical activity of the heart. ECG signal analysis can improve human life in many ways, from diagnosing diseases among cardiac patients to managing the lifestyles of diabetic patients. Abnormalities in heart activities lead to different cardiac diseases and arrhythmia. However, some cardiac diseases, such as myocardial infarction (MI) and atrial fibrillation (Af), require special attention due to their direct impact on human life. The classification of flattened T wave cases of MI in ECG signals and how much of these cases are similar to ST-T changes in MI remain an open issue for researchers. This article presents a novel contribution to classify MI and Af. To this end, we propose a new approach called deep deterministic learning (DDL), which works by combining predefined heart activities with fused datasets. In this research, we used two datasets. The first dataset, Massachusetts Institute of Technology-Beth Israel Hospital, is publicly available, and we exclusively obtained the second dataset from the University of Malaya Medical Center, Kuala Lumpur Malaysia. We first initiated predefined activities on each individual dataset to recognize patterns between the ST-T change and flattened T wave cases and then used the data fusion approach to merge both datasets in a manner that delivers the most accurate pattern recognition results. The proposed DDL approach is a systematic stage-wise methodology that relies on accurate detection of R peaks in ECG signals, time domain features of ECG signals, and fine tune-up of artificial neural networks. The empirical evaluation shows high accuracy (i.e., ≤99.97%) in pattern matching ST-T changes and flattened T waves using the proposed DDL approach. The proposed pattern recognition approach is a significant contribution to the diagnosis of special cases of MI.
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Fibrilación Atrial/diagnóstico , Aprendizaje Profundo , Electrocardiografía/métodos , Procesamiento de Imagen Asistido por Computador/métodos , Infarto del Miocardio/diagnóstico , Reconocimiento de Normas Patrones Automatizadas/métodos , Fibrilación Atrial/patología , Femenino , Humanos , Internet , Masculino , Infarto del Miocardio/patología , Redes Neurales de la ComputaciónRESUMEN
The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families. Variants of the known deafness genes were found in 69% of the participating families with the SLC26A4, GJB2, MYO15A, TMC1, TMPRSS3, OTOF, MYO7A and CLDN14 genes together accounting for hearing loss in 54% of the families. We identified 20 reported and 21 novel variants in 21 known deafness genes; 16 of the 20 reported variants, previously associated with stable, profound deafness were associated with moderate to severe or progressive hearing loss in our families. These data point to a prominent role for genetic background, environmental factors or both as modifiers of human hearing loss severity.
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Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación/genética , Adolescente , Adulto , Niño , Preescolar , Exoma , Femenino , Genes Recesivos , Estudios de Asociación Genética , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Masculino , Linaje , Polimorfismo de Nucleótido Simple , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
The determination of heavy metals in blood is an important occupational environmental toxicology screening procedure. The aim of study was to determine the concentrations of Pb, Cd, Cr and Ni in blood samples of iron and steel foundry workplace exposed workers under routine clinical laboratory conditions. The method was employed for the quantitative determination of lead, cadmium, chromium and nickel in workplace environment particulate matter blood samples from iron and steel foundry workers and in unexposed controls. The results indicate that lead, chromium and nickel levels of the exposed workers are significantly higher those of the controls. Nickel Concentration (µg/L) in high P value=0.0306 and Chromium Concentration (µg/L) in P value=0.0295in worker population as compared to controls. Lead showed highest Absorption concentration in serum from particulate matter to Serum 47.3(µg/L). Absorption concentration of nickel in serum 16.5(µg/L) was lower than lead observed in worker's population. Absorption concentration of cadmium and chromium in serum from particulate matter -152(µg/L) observed very low. The results also show the need for immediate improvements in workplace ventilation and industrial hygiene practices.
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Metales Pesados/sangre , Exposición Profesional/análisis , Adulto , Cadmio/sangre , Estudios de Casos y Controles , Cromo/sangre , Humanos , Plomo/sangre , Masculino , Persona de Mediana Edad , Níquel/sangre , Pakistán , Material Particulado/sangre , Material Particulado/química , Adulto JovenRESUMEN
BACKGROUND: The popularity and proliferation of online social networks (OSNs) have created massive social interaction among users that generate an extensive amount of data. An OSN offers a unique opportunity for studying and understanding social interaction and communication among far larger populations now more than ever before. Recently, OSNs have received considerable attention as a possible tool to track a pandemic because they can provide an almost real-time surveillance system at a less costly rate than traditional surveillance systems. METHODS: A systematic literature search for studies with the primary aim of using OSN to detect and track a pandemic was conducted. We conducted an electronic literature search for eligible English articles published between 2004 and 2015 using PUBMED, IEEExplore, ACM Digital Library, Google Scholar, and Web of Science. First, the articles were screened on the basis of titles and abstracts. Second, the full texts were reviewed. All included studies were subjected to quality assessment. RESULT: OSNs have rich information that can be utilized to develop an almost real-time pandemic surveillance system. The outcomes of OSN surveillance systems have demonstrated high correlations with the findings of official surveillance systems. However, the limitation in using OSN to track pandemic is in collecting representative data with sufficient population coverage. This challenge is related to the characteristics of OSN data. The data are dynamic, large-sized, and unstructured, thus requiring advanced algorithms and computational linguistics. CONCLUSIONS: OSN data contain significant information that can be used to track a pandemic. Different from traditional surveys and clinical reports, in which the data collection process is time consuming at costly rates, OSN data can be collected almost in real time at a cheaper cost. Additionally, the geographical and temporal information can provide exploratory analysis of spatiotemporal dynamics of infectious disease spread. However, on one hand, an OSN-based surveillance system requires comprehensive adoption, enhanced geographical identification system, and advanced algorithms and computational linguistics to eliminate its limitations and challenges. On the other hand, OSN is probably to never replace traditional surveillance, but it can offer complementary data that can work best when integrated with traditional data.
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Pandemias , Medios de Comunicación Sociales , Red Social , Enfermedades Transmisibles , Humanos , Vigilancia de la Población/métodos , Apoyo Social , Encuestas y CuestionariosRESUMEN
BACKGROUND: Hearing loss is a heterogeneous neurosensory disorder. Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness. OBJECTIVE: We sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family. METHODS AND RESULTS: Mutations of GJB2 and all other genes reported to underlie recessive deafness were ruled out as the cause of the phenotype in the affected members of the participating family. Homozygosity mapping with a dense array of one million SNP markers allowed us to map the gene for recessively inherited severe hearing loss to chromosome 7q31.2, defining a new deafness locus designated DFNB97 (maximum logarithm of the odds score of 4.8). Whole-exome sequencing revealed a novel missense mutation c.2521T>G (p.F841V) in MET (mesenchymal epithelial transition factor), which encodes the receptor for hepatocyte growth factor. The mutation cosegregated with the hearing loss phenotype in the family and was absent from 800 chromosomes of ethnically matched control individuals as well as from 136â 602 chromosomes in public databases of nucleotide variants. Analyses by multiple prediction programmes indicated that p.F841V likely damages MET function. CONCLUSIONS: We identified a missense mutation of MET, encoding the hepatocyte growth factor receptor, as a likely cause of hearing loss in humans.
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Pérdida Auditiva/genética , Mutación Missense , Proteínas Proto-Oncogénicas c-met/genética , Conexina 26 , Conexinas , Consanguinidad , Femenino , Humanos , Masculino , Linaje , Estructura Terciaria de Proteína , Proteínas Proto-Oncogénicas c-met/químicaRESUMEN
OBJECTIVE: To determine the prevalence of cytomegalovirus in pregnant women and types of overt congenital infection in neonates. METHODS: This cross-sectional study was conducted at the Pakistan Institute of Medical Sciences and Federal Government Services Hospital in Islamabad, Pakistan, from March 2010 to June 2011, and comprised blood samples of pregnant women. Seroprevalence of human cytomegalovirus, immunoglobulin G and immunoglobulin M was determined by enzyme-linked immunosorbent assay while its deoxyribonucleic acid was detected by nested polymerase chain reaction.The congenital human cytomegalovirus infection was also identified in newborn babies from actively infected pregnant women. SPSS 18 was used for data analysis. RESULTS: Of the 409 pregnant women enrolled, 399(97.55%) were seropositive for cytomegalovirus immunoglobulinG and 52(12.71%) for immunoglobulinM, while cytomegalovirus deoxyribonucleic acid was detected in 82(20%). Of the cytomegalovirus immunoglobulinM-positive women, sera of 40(80%) had immunoglobulinG avidity >50%. The remaining 12(23%) sera had avidity assay value <50%. Among the 82(20%) infected pregnant women, 70(85.4%) were successfully followed up. Among them, the virus was isolated from 41(58.5%) newborns babies, of which 15(21%) were symptomatic while 26(47.2%) were asymptomatic. Of the former, 4(26.6%) had hepatosplenomegaly. CONCLUSIONS: Human cytomegalovirus infection in pregnant women was the main reason of congenital defects among neonates.
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Infecciones por Citomegalovirus/epidemiología , Complicaciones Infecciosas del Embarazo/epidemiología , Adolescente , Adulto , Infecciones Asintomáticas , Estudios Transversales , Citomegalovirus/genética , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/inmunología , ADN Viral/sangre , Femenino , Hepatomegalia/congénito , Hepatomegalia/epidemiología , Humanos , Inmunoglobulina G/inmunología , Inmunoglobulina M/inmunología , Recién Nacido , Pakistán/epidemiología , Embarazo , Complicaciones Infecciosas del Embarazo/inmunología , Estudios Seroepidemiológicos , Esplenomegalia/congénito , Esplenomegalia/epidemiología , Adulto JovenRESUMEN
Mutations of GJB2 which encode connexin 26, contribute to 6-7 % of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.52 and 4.65 %, respectively) were homozygous or compound heterozygous for p.W24X or p.W77X mutations in GJB2. These two variants are also among the most common mutations known to cause profound deafness in South Asia. The association of identical mutations with both profound and less severe phenotype of hearing loss suggests that alleles of other genes modify the phenotype due to these GJB2 nonsense mutations. Our study demonstrates that GJB2 mutations are an important contributor to aetiology of moderate to severe hearing loss in Pakistan.
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Conexinas/genética , Pérdida Auditiva , Adulto , Alelos , Niño , Conexina 26 , Femenino , Pérdida Auditiva/epidemiología , Pérdida Auditiva/genética , Pérdida Auditiva/fisiopatología , Heterocigoto , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Pakistán/epidemiología , Linaje , Índice de Severidad de la EnfermedadRESUMEN
The plant diversity of Himalayan region has been reduced to greater extent due to environmental degradation and human exploitation. Anthropogenic disturbance was the major factor responsible for fragmentation of forest vegetation into small patches. Little research has been conducted in the Himalayan region of Poonch Valley of North eastern Pakistan with reference to plants biodiversity and its conservation. The present research was carried out to provide a checklist of vegetation for biodiversity conservation. A total of 430 vascular and 5 nonvascular plant species with 5 species of Bryophytes (5 families), 13 species of Pteridophytes (6 families), 4 species of Gymnosperms (1 family) and 413 species of angiosperms (95 families) were enumerated from the Poonch valley Azad Kashmir. The genera were classified into three categories according to the number of species. 25 plant communities with phytosociological parameters and diversity indices were reported. Present study revealed that there were 145 threatened, 30 endangered, 68 vulnerable and 47 rare species. It is recorded that extensive grazing, uprooting of plants and soil slope erosion intensify the environmental problems. Since there is maximum exploitation of vegetation, the valley showed a decline in plant diversity. The study was also indicated that the main threats to the biodiversity are expansion of settlement and army installations in the forest area of the valley. For sustainable use In-situ and Ex-situ conservation, controlled harvesting and afforestation may be the solution. Moreover, forest area should be declared prohibited for settlements and army installations.
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Biodiversidad , Conservación de los Recursos Naturales , Plantas , PakistánRESUMEN
Mutations of GJB2, which encodes connexin 26, are the most common cause of hereditary hearing loss in many human populations. This study was initiated to determine the prevalence of GJB2 mutations in individuals with hearing loss from the Hazara Division in Pakistan. We recruited 70 participants with nonsyndromic deafness segregating as an apparently recessive trait and directly sequenced the GJB2 coding region from their DNA. The homozygous mutations c.71 G â A (p.W24X), c.104 T â G (p.I35S), and c.35delG (p.G12VfsX1) were identified as the cause of hearing loss in three participants (4.28%); in populations from other areas of Pakistan, frequencies of 6-7% have been observed. The mutations c.104 T â G and c.35delG were identified in Pakistan for the first time. These results confirm the low prevalence of GJB2 mutations in Hazara and suggest that mutations in other genes may play a significant role in the etiology of deafness in this population.
Asunto(s)
Conexinas/genética , Conexinas/fisiología , Pérdida Auditiva Sensorineural/genética , Mutación , Conexina 26 , Análisis Mutacional de ADN , Exones , Femenino , Eliminación de Gen , Heterocigoto , Homocigoto , Humanos , Masculino , Pakistán , Linaje , Polimorfismo Genético , PrevalenciaRESUMEN
Iodine is an essential microelement for humans and its deficiency leads to iodine deficiency disorder (IDD) which is a common problem faced by people in hilly areas. Biofortification of iodine is an option to overcome the IDD problem. Herein, we investigated the iodine uptake and accumulation in the edible portion of vegetables such as Brassica napus (BNP) and Brassica pekinensis (BPK) which were grown on two different soils such as sandy soil (SS) and silty loam soil (SLS) with different concentrations of iodine application (used in sodium iodide form) such as 0 ppm, 50 ppm, and 100 ppm. The concentration of iodine was determined by the oxidation of iodide, and nutrients were examined by double acid digestion. Different concentrations of iodine were noticed in silty loam and sandy soils, roots, and shoots of BNP and BPK, while the concentration follows the order: soils > roots > shoots. Iodine concentrations in the roots of BNP and BPK ranged from 46 to 223.7 µg/g which shows a strong correlation with other soil nutrients. Moreover, a large amount of iodine was lost due to the leaching. It is concluded that the biofortification of iodine increases its concentration in Brassica species. This work provides a reference for the iodine biofortification in plant species which will be helpful to control IDD.
Asunto(s)
Brassica napus , Brassica , Yodo , Contaminantes del Suelo , Humanos , Suelo , Biofortificación , Suplementos DietéticosRESUMEN
BACKGROUND: Dengue Fever is the most common arboviral disease in the world, and presents cyclically in tropical and subtropical regions of the world. The four serotypes of dengue virus, 1, 2, 3, and 4, form an antigenic subgroup of the flaviviruses (Group B arboviruses). Transmission to humans of any of these serotypes initiates a spectrum of host responses, from in apparent to severe and sometimes lethal infections. Complete Blood count (CBC) is an important part of the diagnostic workup of patients. Comparison of various finding in CBC including peripheral smear can help the physician in better management of the patient. MATERIAL AND METHODS: This cross sectional study was carried out on a series of suspected patients of Dengue viral infection reporting in Ittefaq Hospital (Trust). All were investigated for serological markers of acute infection. RESULTS: Out of 341 acute cases 166 (48.7%) were confirmed by IgM against Dengue virus. IgG anti-dengue was used on 200 suspected re-infected patients. Seventy-one (39.5%) were positive and 118 (59%) were negative. Among 245 confirmed dengue fever patients 43 (17.6%) were considered having dengue hemorrhagic fever on the basis of lab and clinical findings. Raised haematocrit, Leukopenia with relative Lymphocytosis and presence atypical lymphocytes along with plasmacytoid cells was consistent finding at presentation in both the patterns of disease, i.e., Dengue Haemorrhagic fever (DHF) and Dengue fever (DF). CONCLUSION: Changes in relative percentage of cells appear with improvement in the symptoms and recovery from the disease. These findings indicate that in the course of the disease, there are major shifts within cellular component of blood.