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1.
Sensors (Basel) ; 23(15)2023 Aug 04.
Artículo en Inglés | MEDLINE | ID: mdl-37571726

RESUMEN

Wheat stripe rust disease (WRD) is extremely detrimental to wheat crop health, and it severely affects the crop yield, increasing the risk of food insecurity. Manual inspection by trained personnel is carried out to inspect the disease spread and extent of damage to wheat fields. However, this is quite inefficient, time-consuming, and laborious, owing to the large area of wheat plantations. Artificial intelligence (AI) and deep learning (DL) offer efficient and accurate solutions to such real-world problems. By analyzing large amounts of data, AI algorithms can identify patterns that are difficult for humans to detect, enabling early disease detection and prevention. However, deep learning models are data-driven, and scarcity of data related to specific crop diseases is one major hindrance in developing models. To overcome this limitation, in this work, we introduce an annotated real-world semantic segmentation dataset named the NUST Wheat Rust Disease (NWRD) dataset. Multileaf images from wheat fields under various illumination conditions with complex backgrounds were collected, preprocessed, and manually annotated to construct a segmentation dataset specific to wheat stripe rust disease. Classification of WRD into different types and categories is a task that has been solved in the literature; however, semantic segmentation of wheat crops to identify the specific areas of plants and leaves affected by the disease remains a challenge. For this reason, in this work, we target semantic segmentation of WRD to estimate the extent of disease spread in wheat fields. Sections of fields where the disease is prevalent need to be segmented to ensure that the sick plants are quarantined and remedial actions are taken. This will consequently limit the use of harmful fungicides only on the targeted disease area instead of the majority of wheat fields, promoting environmentally friendly and sustainable farming solutions. Owing to the complexity of the proposed NWRD segmentation dataset, in our experiments, promising results were obtained using the UNet semantic segmentation model and the proposed adaptive patching with feedback (APF) technique, which produced a precision of 0.506, recall of 0.624, and F1 score of 0.557 for the rust class.


Asunto(s)
Basidiomycota , Triticum , Humanos , Inteligencia Artificial , Enfermedades de las Plantas , Productos Agrícolas
2.
Chemosphere ; 290: 133313, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34921859

RESUMEN

This work investigates the application of empirical, statistical and machine learning methods to appraise the prediction of transmembrane pressure (TMP) by oscillating slotted pore membrane for the treatment of two kinds of deformable oil drops. Here, we utilized the previous experimental runs with permeate flux, shear rate and filtration time as features, while TMP of crude oil and Tween-20 were two distinct targets. For 87 experimental runs, Response surface methodology (RSM) and Artificial Neural network (ANN) modelling were opted as statistical and machine learning tools, respectively, which were comprehensively compared with empirical slot-pore blocking model (SBM) considering accuracy and generalization. ANN with 10 neurons in the hidden layer could approximate the TMP of both oils better than RSM and SBM, which is reflected by computed performance metrics. Under the given conditions, almost similar analysis were predicted for TMP of both oils except changes in magnitude which were interpreted by (1) line plots, which showed that TMP of crude oil and Tween-20 were linearly related to flux rate and filtration time, and there was an inverse relationship between TMP and shear rate, (2) contour plots, which illustrated the strong interaction effect of flux rate and time on TMP, and (3)- sensitivity analysis, which revealed the influential sequence of variables on TMP as; flux rate > filtration time > shear rate, for both cases. The optimisation of the process showed that minimum TMP can be attained by maintaining higher shear rate and lower flux rate and time. Conclusively, the current findings indicate the utilization of ANN for the accurate assessment of TMP and can be helpful for the process designing and scale up.


Asunto(s)
Inteligencia Artificial , Membranas Artificiales , Filtración , Redes Neurales de la Computación , Aceites
3.
ACS Omega ; 6(42): 27763-27772, 2021 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-34722976

RESUMEN

The primary focus of the presented research is to come up with a model that could be utilized to evaluate the permeate content (concentration) of oil drops using a straight (nonconverging) slotted microstructured membrane. The content (concentration) of crude drops in the permeate with a nonconverging slit structure membrane has not been studied before, and the study presented would be a good contribution to the literature. A comparison between the use of a converging (narrowing toward the inside) and a nonconverging slotted pore microstructured membrane is made for the purpose of removing oil content from the produced water. Due to the drag force, the droplets pass through the membrane slots; however, the static force acts in the opposite direction and tries to reject droplets by the membrane. At a certain point, these two forces balance the effect of each other, which is known as "100% cutoff through the membrane". A linear line is obtained by joining the 100% cutoff or rejection point to the 0% rejection point, which is referred to as the "linear fit" in this paper. The linear fit approach could be utilized for estimating rejection below the 100% cutoff point. Various types of crude oil drops obtained from different locations were analyzed experimentally, and the results were compared with the presented model. The proposed model was found to be in agreement with the different types of oil drops. Experimental and predicted results showed that the nonconverging slotted microstructured membrane provided low friction to oil drops through the membrane as compared to the converging slots. Furthermore, the developed model can be utilized to predict the overall oil content in the permeate. This research has great importance and will allow researchers around the globe to estimate crude oil concentration within the allowable limits.

4.
Membranes (Basel) ; 11(9)2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34564526

RESUMEN

A new method is proposed to increase the rejection in microfiltration by applying membrane oscillation, using a new type of microfiltration membrane with slotted pores. The oscillations applied to the membrane surface result in reduced membrane fouling and increased separation efficiency. An exact mathematical solution of the flow in the surrounding solution outside the oscillating membrane is developed. The oscillation results in the appearance of a lift velocity, which moves oil particles away from the membrane. The latter results in both reduced membrane fouling and increased oil droplet rejection. This developed model was supported by the experimental results for oil water separation in the produced water treatment. It was proven that the oil droplet concentration was reduced notably in the permeate, due to the membrane oscillation, and that the applied shear rate caused by the membrane oscillation also reduced pore blockage. A four-times lower oil concentration was recorded in the permeate when the membrane vibration frequency was 25 Hz, compared to without membrane vibration. Newly generated microfiltration membranes with slotted pores were used in the experiments.

5.
Pak J Pharm Sci ; 34(1): 151-156, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34248014

RESUMEN

The present research study investigates the phytochemical and pharmacological importance of Bromus pectinatus. Qualitative phytochemical analysis of this plant was carried out to use standard method for the presence of various bioactive constituents. Results showed the ethanolic extract contain natural product such as steroids, alkaloids, tannins, coumarin, saponins, flavonoids and phenols. These compounds play a key role to reducing various disease and microbial inhibition. The ethanolic extract also showed the antimicrobial and antifugal activity against different pathogenic bacterial strains e.g Escherichia coli, Micrococus leutus, Protus vulgarus, and Kelebsela pneumona and three fungal strains Aspergillus fumigatus, Aspergillus flavous, Aspergillus niger. The antioxidant assay was performed as % inhibition of DPPH (1, 1-diphenyl-2-picryl-hydrazyl) free radicals. The plant extract has more antioxidant activity as compared to ascorbic acid. The maximum concentration (800µg/ml) is the most effective of all. The plant extract showed the high cytotoxicity activity against Brine shrimp. Moreover, the plant extract exhibited allelopathic effect on different growth parameters of wheat plant mostly at higher concentration. These results indicate that the BPEE have a potential broad-spectrum antimicrobial, cytotoxic, antioxidant and phytotoxic activity due to the presence of bioactive compounds.


Asunto(s)
Antiinfecciosos/farmacología , Antioxidantes/farmacología , Bromus , Fitoquímicos/farmacología , Extractos Vegetales/farmacología , Animales , Antiinfecciosos/aislamiento & purificación , Antioxidantes/aislamiento & purificación , Artemia , Aspergillus niger/efectos de los fármacos , Aspergillus niger/fisiología , Evaluación Preclínica de Medicamentos/métodos , Escherichia coli/efectos de los fármacos , Escherichia coli/fisiología , Pruebas de Sensibilidad Microbiana/métodos , Fitoquímicos/aislamiento & purificación , Extractos Vegetales/aislamiento & purificación
6.
Chemosphere ; 272: 129880, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33601209

RESUMEN

A simple novel electrochemical reduction approach was developed for the self-doping of Nb4+ in niobium oxide nanochannels (Nb2O5NC), changing the conductivity, optical properties, and photocatalytic properties of the material. Nb2O5NC was synthesized using different electrolytes: 0.4 wt% HF in 1 M H2SO4 (EI), 0.4 M NH4F in glycerol (EII), and 0.25 g NH4F with 4 vol% water in glycol at 50 °C (EIII). Field emission scanning electron microscopy (FEG-SEM) analysis showed well-organized arrays of Nb2O5 nanochannels produced on Nb foil, with varying tube diameters in the order EII < EI < EIII and film thickness in the order EI < EII < EIII, which drastically affected the photocurrent vs. potential curves. In order to self-dope the Nb2O5, the samples were electrochemically reduced in 0.1 M KH2PO4 buffer solution (pH 10) for 5 min, at -2.5 V vs. Ag/AgCl, resulting in the doped samples denoted P-EI, P-EII, and P-EIII. The results showed that reduction of Nb5+ to Nb4+ occurred for all the Nb2O5NC samples, leading to decreased surface charge transfer resistance between the Nb2O5NC and the electrolyte, as well as increases of the charge carrier density and photocurrent for all the self-doped samples, compared to undoped samples. Sample P-EI was also tested for the degradation of reactive red 120 (RR120) dye, achieving efficient photoelectrocatalytic degradation of a 10 mg L-1 dye solution. These results reveal that the self-doping approach can enhance the photoelectrocatalytic properties of Nb2O5 photoanode, offering an alternative way for the removal of reactive dyes.


Asunto(s)
Doping en los Deportes , Niobio , Colorantes , Electrodos , Titanio
7.
Int J Colorectal Dis ; 36(3): 445-455, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33064212

RESUMEN

PURPOSE: Anastomotic leak is a feared complication of rectal cancer surgery. A diverting stoma is believed to act as a safety mechanism against this undesirable outcome. This meta-analysis aimed to examine the role of loop ileostomy in the prevention of this complication. METHODS: The Medline, Embase and Cochrane databases were searched for randomized controlled trials (RCTs) comparing anastomotic complications after rectal cancer surgery in the presence or absence of diverting ileostomy. The need for reoperation and postoperative complications were also analysed. The length of hospital stay, intraoperative blood loss and operating time were analysed as secondary endpoints. RESULTS: A significantly higher number of anastomotic leaks was detected in patients with no diverting ileostomies than in those with diversion (odds ratio (OR) 0.292 and 95% confidence interval (CI) 0.177-0.481), and more patients required reoperations in this group (OR 0.219 and 95% CI 0.114-0.422). The rate of complications other than anastomotic leak was significantly higher in patients with diverting ileostomies than in those without (OR 3.337 and 95% CI of 1.570-7.093). The operating time was longer in the ileostomy group than in the no ileostomy group (P 0.001), but no significant differences in the intraoperative blood loss or postoperative hospital stay length were observed between the two groups(P 0.199 and 0.191 respectively). CONCLUSION: A lower leak rate in the presence of diverting ileostomy is supported by relatively weak evidence. While mitigating the consequences of leakage, diverting ileostomies lead to numerous other complications. High-quality RCTs are needed before routine ileostomy diversions can be recommended after rectal cancer surgery.


Asunto(s)
Ileostomía , Neoplasias del Recto , Anastomosis Quirúrgica , Fuga Anastomótica/etiología , Humanos , Complicaciones Posoperatorias/etiología , Neoplasias del Recto/cirugía , Recto/cirugía , Estudios Retrospectivos
8.
Chemosphere ; 257: 127164, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32480087

RESUMEN

The present work describes the synthesis of niobium oxide nanochannels (Nb2O5NCs) with high surface area, porosity, photocurrent density, and photoelectrochemical stability as photocatalyst. The Nb2O5NCs were prepared by electrochemical anodization of niobium foil in different electrolytes: 1 M H2SO4 containing 0.4 wt% HF (S1); glycerol containing 0.4 M NH4F (S2); 0.25 g NH4F with 4 vol% water in glycol at 50 °C (S3); and glycerol containing 10 wt% K2HPO4, at 130 °C (S4, annealed in air; S5, annealed in N2). All the Nb2O5NCs showed well-organized arrays of nanochannels grown on the Nb foil, with tube diameters in the order S4

Asunto(s)
Colorantes/química , Niobio/química , Purificación del Agua/métodos , Compuestos Orgánicos , Óxidos/química , Fotólisis , Titanio/química
9.
Chemosphere ; 253: 126673, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32302900

RESUMEN

In this study, computational and statistical models were applied to optimize the inherent parameters of an electrochemical decontamination of synozol red. The effect of various experimental variables such as current density, initial pH and concentration of electrolyte on degradation were assessed at Ti/RuO0·3TiO0·7O2 anode. Response surface methodology (RSM) based central composite design was applied to investigate interdependency of studied variables and train an artificial neural network (ANN) to envisage the experimental training data. The presence of fifteen neurons proved to have optimum performance based on maximum R2, mean absolute error, absolute average deviation and minimum mean square error. In comparison to RSM and empirical kinetics models, better prediction and interpretation of the experimental results were observed by ANN model. The sensitive analysis revealed the comparative significance of experimental variables are pH = 61.03%>current density = 17.29%>molar concentration of NaCl = 12.7%>time = 8.98%. The optimized process parameters obtained from genetic algorithm showed 98.6% discolorization of dye at pH 2.95, current density = 5.95 mA cm-2, NaCl of 0.075 M in 29.83 min of electrolysis. The obtained results revealed that the use of statistical and computational modeling is an adequate approach to optimize the process variables of electrochemical treatment.


Asunto(s)
Compuestos Azo/química , Eliminación de Residuos Líquidos/métodos , Descontaminación , Electrodos , Electrólisis , Cinética , Modelos Estadísticos , Redes Neurales de la Computación , Titanio , Eliminación de Residuos Líquidos/estadística & datos numéricos , Aguas Residuales/química , Contaminantes Químicos del Agua
10.
Clin Dysmorphol ; 29(1): 17-23, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31469663

RESUMEN

Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel substitution mutation (c.719G>T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Síndrome de Bardet-Biedl/genética , Cromosomas Humanos Par 7/genética , Proteínas del Citoesqueleto/genética , Familia , Mutación Missense , Linaje , Sustitución de Aminoácidos , Femenino , Ligamiento Genético , Humanos , Masculino , Pakistán
11.
J Pak Med Assoc ; 69(10): 1543-1546, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31622313

RESUMEN

In the current study the occurrence and severity of iron deficiency anemia (IDA) was recorded from September, 2014 to April, 2015 in children of school age in District Tank. Random sampling of blood and questionnaires were planned to record general information while blood was analyzed through automatic haematological analyzer model Sysmex Kx- 21 Stromatolyser- WH, Cell Pack (Merck). Total prevalence of anaemia in school age children was 37.1% with 63.8% in boys and 64.3% in girls.


Asunto(s)
Anemia Ferropénica/epidemiología , Anemia Ferropénica/metabolismo , Niño , Preescolar , Fatiga/epidemiología , Femenino , Hemoglobinas/metabolismo , Humanos , Masculino , Debilidad Muscular/epidemiología , Pakistán/epidemiología , Prevalencia , Índice de Severidad de la Enfermedad , Clase Social
12.
J Ayub Med Coll Abbottabad ; 31(1): 3-7, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30868773

RESUMEN

BACKGROUND: Acute presentation of gall stone disease is a common emergency. Resource limitation often results in unnecessary long waiting times and repeat hospital admissions. The aim of this study was to investigate if funding a dedicated hot gall bladder list is justified. METHODS: Patients with acute gall stone related complications between 1st January 2016 and 31st December 2017 were studied. Outcome measures included the number of acute admissions, length of hospital stay (LOS), approximate cost per patient. The length of stay was identified as a critical outcome measure. RESULTS: Fourteen hundred and ninety-five (11%) out of 14189 acute surgical admissions were related to gall stone complications. These included acute cholecystitis 576 (39%), biliary colic 485 (32%), pancreatitis 405 (27%) and jaundice 34 (2%). Twelve hundred and twenty-two patients accounted for 1461 admissions. 182 (15%) patients had recurrent admissions (35%) and on average stayed 11.2 days in the hospital compared to 5.8 days for that of single presentation. The cost of emergency LC (£2053) was less than half of elective LC following single emergency admission (£5661) and less than one third of Elective LC following recurrent admissions (£7453). A trust can save £1,891,784 per year by achieving 80% target. The savings can be used to fund a dedicated hot gall bladder list, releasing hospital beds and additional benefit of reducing the workforce days lost to sickness in general. CONCLUSIONS: Emergency LC is cost effective and savings made for such a service is sufficient to fund a dedicated hot gall bladder list..


Asunto(s)
Colecistectomía Laparoscópica/economía , Cálculos Biliares/complicaciones , Cálculos Biliares/cirugía , Costos de Hospital/estadística & datos numéricos , Ahorro de Costo , Análisis Costo-Beneficio , Procedimientos Quirúrgicos Electivos/economía , Urgencias Médicas/economía , Femenino , Humanos , Tiempo de Internación/economía , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Admisión del Paciente/economía , Admisión del Paciente/estadística & datos numéricos
13.
J Ayub Med Coll Abbottabad ; 30(3): 337-341, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30465361

RESUMEN

BACKGROUND: Identifying general surgical patients at risk of poor outcome can be a diagnostic challenge. This study aimed to determine the significance of admission serum acute phase reactants in predicting emergency general surgical outcome. METHODS: An electronic database containing all acute general surgical admissions over two years was analysed to correlate admission acute phase reactants (including C-reactive protein (CRP), absolute neutrophil count (ANC) and serum albumin) with outcome. Study endpoints included: cross-sectional imaging, surgery, intensive care admission, in-hospital mortality and length-of-stay (LOS). RESULTS: A total of 9738 patients were enrolled in the study. Elevated CRP (n= 4635; 47%) was associated with: advanced imaging 17% vs 30% (p=0.0001), surgery 15% vs 28% (p=0.0001), ITU admission 3% vs 7% (p=0.0001) and mortality 0.5% vs 2% (p=0.0001). A cut-off level of >150 mg/L was most significant. Abnormal ANC (n= 4104; 42%) was significant in predicting advanced imaging 15% vs 55% (p=0.0001), surgery 17% vs 27% (p=0.0001), and ITU admission 3% vs 8% (p=0.0001). Hypoalbuminaemia (n= 1392; 14%) was associated with a 12-fold rise in mortality 0.5% vs 6%. Normal CRP, ANC with hypoalbuminaemia was a strong negative predictor of mortality (0.015% vs 1.24%), while an abnormal combination was associated with mortality of 8%. CONCLUSIONS: Admission acute phase reactants are useful to enhance acute surgical patient stratification during clinical decision making. An admission CRP above 150 should alert the clinician of a potentially high-risk patient who may require prompt intervention. A combination of abnormal results has the highest in-hospital mortality.


Asunto(s)
Proteínas de Fase Aguda/metabolismo , Proteína C-Reactiva/metabolismo , Mortalidad Hospitalaria , Neutrófilos , Albúmina Sérica/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Cuidados Críticos , Diagnóstico por Imagen/estadística & datos numéricos , Femenino , Humanos , Tiempo de Internación , Recuento de Leucocitos , Masculino , Persona de Mediana Edad , Admisión del Paciente/estadística & datos numéricos , Valor Predictivo de las Pruebas , Pronóstico , Medición de Riesgo , Procedimientos Quirúrgicos Operativos/estadística & datos numéricos , Adulto Joven
14.
Pak J Pharm Sci ; 31(1): 57-67, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29348085

RESUMEN

The present paper was a part of Ph.D research work, conducted during the year 2014, in which 87 poisonous plants belonging to 54 genera, were collected, documented and preserved in the herbarium of Bannu, Department of Botany UST, Bannu Khyber Pakhtunkwa Pakistan. The plants were identified botanically, arranged alphabetically along with their Latin name, family name, common name, poisonous parts, toxicity, affects, toxin and their effects. Aim of the study was to induce awareness in the local people of district Bannu about the poisonous effects of the commonly used plants. Data about poisonous effect were collected from the local experienced and mostly old age people through questionnaire. Some information were collected from a number of veterinary texts and literature. The most important plants genera studied in the area were Brassica 6 species (11.11%), Lathyrus 5 spp (9.26%), Astragalus, Euphorbia and Prunus were with 4 spp (7.40%). Datura, Jatropha, Ranunculus, Solanum and Sorghum were with 3 spp (5.56%) while Allium, Amaranthus, Chenopodium, Melilotus and Taxus were with 2 spp (3.70%). These 15 genera contribute 48 species (55.17 %) while the remaining 39 genera have single species each and contribute 44.83% to the total poisonous flora of the research area. Other important poisonous plants were Anagallis arvensis L., Cannabis sativa, Datura stramonium L., D. metel L., Euphorbia species, Heliotropium europaeum, Ipomoea tricolor, Jatropha curcas, Lolium temulentum L., Malus domestica, Mangifera indica L., Medicago sativa L., Melilotus alba Desr., M. officinalis (L.) Lam., Mirabilis jalapa L., Narcissus tazetta, Nicotiana tabacum L., Sorghum halepense (L) Pers., and Xanthium strumarium. It was concluded that the local population had poor knowledge about the poisonous effect of the plants and the present research work was anticipated for use by health care professionals, veterinarians, farmers, homeowners, as well as botanically curious individuals.


Asunto(s)
Investigación Biomédica/métodos , Etnobotánica/métodos , Etnofarmacología/métodos , Plantas Tóxicas/clasificación , Plantas Tóxicas/toxicidad , Animales , Conocimientos, Actitudes y Práctica en Salud , Humanos , Pakistán , Plantas Tóxicas/crecimiento & desarrollo , Encuestas y Cuestionarios
15.
J Child Neurol ; 25(6): 715-20, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19808985

RESUMEN

Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most common cause of autosomal recessive primary microcephaly in the majority of the reported families. In the current investigation, we have located and studied 21 families with autosomal recessive primary microcephaly. Genotyping using polymorphic microsatellite markers linked to 7 autosomal recessive primary microcephaly loci revealed linkage of 18 families to the MCPH5 locus. Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C>T/p.Q701X; c.9492T>G/p.Y3164X) in 2 families and 2 novel deletion mutations (c.6686delGAAA/p.R2229TfsX9; c.77delG/p.G26AfsX41) in 2 other families. Three previously described mutations (c.3978G>A/p.W1326X; c.1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly.


Asunto(s)
Discapacidad Intelectual/genética , Microcefalia/genética , Mutación , Proteínas del Tejido Nervioso/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Genes Recesivos , Ligamiento Genético , Variación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Pakistán
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