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1.
J Anim Physiol Anim Nutr (Berl) ; 107(2): 712-722, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35864780

RESUMO

A total of 300 laying Japanese quails (230.10 ± 20 g body weight) divided into four groups (15 birds in 5 replicates/group) were used to examine the impacts of dietary sodium humate (SH) supplementation at levels of 0% (control diet), 0.2%, 0.4% and 0.6% on egg variables and physiological merits of laying quails for 10 weeks under heat stress conditions (15 June and 23 August 2021). Results showed 0.4% SH increased (p < 0.05) weight (12.27 vs. 11.91 g), production (79.84% vs. 69.20%), mass (597.13 vs. 510.48 g) and brokenness (2.8% vs. 5.4%) of eggs as compared to control. Egg shape, shell thickness, shell strength and cholesterol content as well as feed conversion ratio were higher (80.2, 295.8 µm, 1.468 kg/cm,2 11.08 mg/g and 2.69, p < 0.05) in 0.4% SH than in control group (75.2, 279.0 µm, 1.304 kg/cm,2  14.94 mg/g and 2.76). Feed intake, percentages of eggs' shells, yolk, albumen and serum biochemistry (total protein, albumin, AST and HDL) were not altered with the dietary SH. Birds fed on SH diets showed higher levels of globulin, calcium and phosphorus, as well as lower contents of albumin/globulin ratio, triglycerides, cholesterol, corticosterone compared with the control. Regression analysis of antioxidants expected higher total antioxidant capacity (TAC), superoxide dismutase, glutathione peroxidase at 0.35%, and glutathione at 0.40% SH, while the lowest concentration of malondialdehyde was computed at 0.45%. Similarly, immunoglobulins (IgG and IgM) maximum values were determined at 0.35% and 0.40% levels. Moreover, the concentration of tumour necrosis factor-alpha increased (p < 0.05) in all SH levels as compared to the control group. It is conceivable to conclude that the dietary implementation of SH at a level of 0.4% improved egg variables and well-being aspects of laying quail exposed to heat stress conditions.


Assuntos
Coturnix , Suplementos Nutricionais , Animais , Coturnix/fisiologia , Sódio , Dieta/veterinária , Antioxidantes/metabolismo , Codorniz , Colesterol , Resposta ao Choque Térmico , Ração Animal/análise
2.
J Air Waste Manag Assoc ; 72(9): 1027-1039, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35404762

RESUMO

Fast population growth and urbanization has increased the generation of municipal solid waste in Oman. Currently, Oman relies on landfills to handle growing amounts of waste, which has burdened the existing solid waste management infrastructure. This situation calls for establishing incineration plants that can considerably reduce the volume of waste, and can simultaneously produce electricity. However, one of the crucial steps in the planning of an incineration plant is the selection of an appropriate site that can overcome environmental and economic implications and eliminate community dissatisfaction. Therefore, to select an optimal site for incineration plant in Muscat and South Batinah governorates, where landfills receive the highest waste amounts per day, this research identified 11 criteria that cover the environmental, economic, and social concerns. These criteria were processed by combining the multicriteria decision making (MCDM) method and geographical information system (GIS) software where the suitability of individual criteria were evaluated and then integrated using the weighted overlay analysis to generate a final suitability map for incineration site selection. The final suitability map indicated that only 2% of the land is suitable for setting up an incineration plant in the study area, and the most suitable location with adequate area was found in Barka wilaya of South Batinah governorate.Implications: Due to the escalation in MSW generation, Oman is looking for alternative strategies to reduce the volume of MSW. This has led to country's interest in establishing a waste-to-energy plant (particularly incineration) in the future. However, locating a suitable site for the installation of an MSW incineration plant in Oman has never been studied before. Therefore, to bridge the gap in knowledge, this research focuses on selecting a suitable site for a municipal solid waste incineration plant using GIS and multicriteria decision analysis. This study highlights the suitability of Muscat and North Batinah governorates of Oman where landfills receive huge amounts of MSW on a daily basis and are close to becoming saturated. Moreover, the suitability of land in both governorates is assessed to overcome environmental and economic implications and eliminate community dissatisfaction. This research not only provides the level of suitability of land in both governorates, but also selects a suitable site, which will be beneficial for the government of Oman in future when making a decision regarding the location of the plant.


Assuntos
Eliminação de Resíduos , Resíduos Sólidos , Técnicas de Apoio para a Decisão , Sistemas de Informação Geográfica , Incineração , Eliminação de Resíduos/métodos , Resíduos Sólidos/análise , Instalações de Eliminação de Resíduos
3.
J Anim Physiol Anim Nutr (Berl) ; 106(5): 1060-1071, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34363248

RESUMO

The potentiality of coenzyme Q10 (CoQ10), D-Aspartic acids (D-Asp), Maca or vitamin C, as antioxidant agents, to reduce negative impacts of high ambient temperature on semen quality, oxidative capacity and fertility of Muscovy ducks was investigated. Seventy-five Muscovy males (34-wk of age) were distributed randomly into five experimental groups of fifteen ducks each. The first group was fed a basal diet without supplementation and served as a control. The other four groups were fed a basal diet supplemented with 400 mg CoQ10, 400 mg D-Asp, 500 mg Maca and 200 mg vitamin C (ascorbic acid) per kg diet for 17 consecutive weeks under high ambient temperature conditions. The dietary inclusion of antioxidants significantly maintains better semen variables and a higher fertility rate either for fresh or preserved semen. Among the tested antioxidants, the Maca group showed the best status and outperformed the others in terms of motility, viability, sperm cell concentration, intact acrosome and membrane integrity percentages, total proteins, total antioxidants capacity, glutathione peroxidase, superoxide dismutase (SOD), malondialdehyde (MDA), testosterone, and the fertility rate for the fresh semen, as well as, forward motility, SOD and MDA for the preserved semen. The CoQ10 showed similar results to Maca in some measurements. Conversely, the basal diet had the poorest performance in all examined variables. The dietary incorporation of antioxidants (Maca or CoQ10) enhances fresh and preserved semen quantity and quality, as well as the fertility rate of Muscovy males under high ambient temperature conditions.


Assuntos
Antioxidantes , Análise do Sêmen , Animais , Ácido Ascórbico , Patos , Masculino , Sêmen , Análise do Sêmen/veterinária , Motilidade dos Espermatozoides , Espermatozoides , Superóxido Dismutase , Temperatura , Vitaminas
4.
Poult Sci ; 100(3): 100898, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33518354

RESUMO

The potential impacts of probiotics on the performance and health status of white Pekin ducks fed with optimal or suboptimal dietary CP were evaluated during the growing period. A total of 180 male white Pekin ducks (14-day-old ducks with an initial weight of 415.65 ± 2.20 g) were randomly divided into 4 experimental groups (45 in each group of 5 replicates) in a 2 × 2 factorial design. The main factors included 2 dietary CP levels (18 or 14%) and dietary probiotic addition (with or without probiotics). The probiotic source was supplemented at 0.2 g per kilogram of diet from a blend of Lactobacillus acidophilus and Lactobacillus casei. The results showed that the diet containing 18% CP and probiotics significantly increases the final and total weight gain. Activities of intestinal enzymes (amylase, lipase, and protease), morphometrics (villus length, goblet cell count, and cryptal depth), and carcass percentage were also increased significantly. Total protein content, lysozyme activity, bactericidal activity, nitro blue tetrazolium levels, alternative complement pathway, superoxide dismutase activity, and catalase activity were significantly increased, whereas glucose, cortisol, and total cholesterol levels were decreased when treated with diet containing 18% CP and probiotics. Conversely, the group treated with diet containing 14% CP without probiotics showed the poorest performance, carcass properties, immune response, and antioxidant potential. In conclusion, probiotic addition to the 14% CP diet improved the performance of white Pekin ducks caused by reduced CP diet to performance due to the 18% CP diet without probiotic supplementation.


Assuntos
Patos , Probióticos , Ração Animal/análise , Animais , Antioxidantes , Galinhas , Dieta/veterinária , Suplementos Nutricionais , Masculino
5.
Waste Manag ; 55: 3-11, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26522806

RESUMO

Solid waste prediction is crucial for sustainable solid waste management. The collection of accurate waste data records is challenging in developing countries. Solid waste generation is usually correlated with economic, demographic and social factors. However, these factors are not constant due to population and economic growth. The objective of this research is to minimize the land requirements for solid waste disposal for implementation of the Malaysian vision of waste disposal options. This goal has been previously achieved by integrating the solid waste forecasting model, waste composition and the Malaysian vision. The modified adaptive neural fuzzy inference system (MANFIS) was employed to develop a solid waste prediction model and search for the optimum input factors. The performance of the model was evaluated using the root mean square error (RMSE) and the coefficient of determination (R(2)). The model validation results are as follows: RMSE for training=0.2678, RMSE for testing=3.9860 and R(2)=0.99. Implementation of the Malaysian vision for waste disposal options can minimize the land requirements for waste disposal by up to 43%.


Assuntos
Modelos Teóricos , Eliminação de Resíduos/métodos , Resíduos Sólidos/estatística & dados numéricos , Instalações de Eliminação de Resíduos/estatística & dados numéricos , Países em Desenvolvimento , Previsões , Eliminação de Resíduos/estatística & dados numéricos
6.
Environ Monit Assess ; 187(12): 753, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26573690

RESUMO

Most of the developing countries have solid waste management problems. Solid waste strategic planning requires accurate prediction of the quality and quantity of the generated waste. In developing countries, such as Malaysia, the solid waste generation rate is increasing rapidly, due to population growth and new consumption trends that characterize society. This paper proposes an artificial neural network (ANN) approach using feedforward nonlinear autoregressive network with exogenous inputs (NARX) to predict annual solid waste generation in relation to demographic and economic variables like population number, gross domestic product, electricity demand per capita and employment and unemployment numbers. In addition, variable selection procedures are also developed to select a significant explanatory variable. The model evaluation was performed using coefficient of determination (R(2)) and mean square error (MSE). The optimum model that produced the lowest testing MSE (2.46) and the highest R(2) (0.97) had three inputs (gross domestic product, population and employment), eight neurons and one lag in the hidden layer, and used Fletcher-Powell's conjugate gradient as the training algorithm.


Assuntos
Redes Neurais de Computação , Resíduos Sólidos/estatística & dados numéricos , Gerenciamento de Resíduos/métodos , Algoritmos , Países em Desenvolvimento , Monitoramento Ambiental/métodos , Previsões , Produto Interno Bruto , Malásia , Modelos Teóricos , Crescimento Demográfico , Resíduos Sólidos/análise
7.
J Air Waste Manag Assoc ; 65(10): 1229-38, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26223583

RESUMO

UNLABELLED: Solid waste prediction is crucial for sustainable solid waste management. Usually, accurate waste generation record is challenge in developing countries which complicates the modelling process. Solid waste generation is related to demographic, economic, and social factors. However, these factors are highly varied due to population and economy growths. The objective of this research is to determine the most influencing demographic and economic factors that affect solid waste generation using systematic approach, and then develop a model to forecast solid waste generation using a modified Adaptive Neural Inference System (MANFIS). The model evaluation was performed using Root Mean Square Error (RMSE), Mean Absolute Error (MAE) and the coefficient of determination (R²). The results show that the best input variables are people age groups 0-14, 15-64, and people above 65 years, and the best model structure is 3 triangular fuzzy membership functions and 27 fuzzy rules. The model has been validated using testing data and the resulted training RMSE, MAE and R² were 0.2678, 0.045 and 0.99, respectively, while for testing phase RMSE =3.986, MAE = 0.673 and R² = 0.98. IMPLICATIONS: To date, a few attempts have been made to predict the annual solid waste generation in developing countries. This paper presents modeling of annual solid waste generation using Modified ANFIS, it is a systematic approach to search for the most influencing factors and then modify the ANFIS structure to simplify the model. The proposed method can be used to forecast the waste generation in such developing countries where accurate reliable data is not always available. Moreover, annual solid waste prediction is essential for sustainable planning.


Assuntos
Modelos Teóricos , Resíduos Sólidos/análise , Gerenciamento de Resíduos/métodos , Previsões , Lógica Fuzzy , Humanos , Redes Neurais de Computação
8.
J Air Waste Manag Assoc ; 64(2): 150-9, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24654384

RESUMO

Knowing the fraction of methane (CH4) oxidized in landfill cover soils is an important step in estimating the total CH4 emissions from any landfill. Predicting CH4 oxidation in landfill cover soils is a difficult task because it is controlled by a number of biological and environmental factors. This study proposes an artificial neural network (ANN) approach using feedforward backpropagation to predict CH4 oxidation in landfill cover soil in relation to air temperature, soil moisture content, oxygen (O2) concentration at a depth of 10 cm in cover soil, and CH4 concentration at the bottom of cover soil. The optimum ANN model giving the lowest mean square error (MSE) was configured from three layers, with 12 and 9 neurons at the first and the second hidden layers, respectively, log-sigmoid (logsig) transfer function at the hidden and output layers, and the Levenberg-Marquardt training algorithm. This study revealed that the ANN oxidation model can predict CH4 oxidation with a MSE of 0.0082, a coefficient of determination (R2) between the measured and predicted outputs of up to 0.937, and a model efficiency (E) of 0.8978. To conclude, further developments of the proposed ANN model are required to generalize and apply the model to other landfills with different cover soil properties.


Assuntos
Metano/química , Modelos Químicos , Solo/química , Algoritmos , Redes Neurais de Computação , Oxirredução
9.
Environ Monit Assess ; 185(12): 9967-78, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23797636

RESUMO

Methane (CH4) emissions and oxidation were measured at the Air Hitam sanitary landfill in Malaysia and were modeled using the Intergovernmental Panel on Climate Change waste model to estimate the CH4 generation rate constant, k. The emissions were measured at several locations using a fabricated static flux chamber. A combination of gas concentrations in soil profiles and surface CH4 and carbon dioxide (CO2) emissions at four monitoring locations were used to estimate the CH4 oxidation capacity. The temporal variations in CH4 and CO2 emissions were also investigated in this study. Geospatial means using point kriging and inverse distance weight (IDW), as well as arithmetic and geometric means, were used to estimate total CH4 emissions. The point kriging, IDW, and arithmetic means were almost identical and were two times higher than the geometric mean. The CH4 emission geospatial means estimated using the kriging and IDW methods were 30.81 and 30.49 gm(−2) day(−1), respectively. The total CH4 emissions from the studied area were 53.8 kg day(−1). The mean of the CH4 oxidation capacity was 27.5 %. The estimated value of k is 0.138 year(−1). Special consideration must be given to the CH4 oxidation in the wet tropical climate for enhancing CH4 emission reduction.


Assuntos
Poluentes Atmosféricos/análise , Metano/análise , Solo/química , Instalações de Eliminação de Resíduos , Poluição do Ar/estatística & dados numéricos , Monitoramento Ambiental , Malásia , Oxirredução , Clima Tropical
10.
Environ Monit Assess ; 185(6): 4919-32, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23054277

RESUMO

Methane (CH4) is one of the most relevant greenhouse gases and it has a global warming potential 25 times greater than that of carbon dioxide (CO2), risking human health and the environment. Microbial CH4 oxidation in landfill cover soils may constitute a means of controlling CH4 emissions. The study was intended to quantify CH4 and CO2 emissions rates at the Sungai Sedu open dumping landfill during the dry season, characterize their spatial and temporal variations, and measure the CH4 oxidation associated with the landfill cover soil using a homemade static flux chamber. Concentrations of the gases were analyzed by a Micro-GC CP-4900. Two methods, kriging values and inverse distance weighting (IDW), were found almost identical. The findings of the proposed method show that the ratio of CH4 to CO2 emissions was 25.4 %, indicating higher CO2 emissions than CH4 emissions. Also, the average CH4 oxidation in the landfill cover soil was 52.5 %. The CH4 and CO2 emissions did not show fixed-pattern temporal variation based on daytime measurements. Statistically, a negative relationship was found between CH4 emissions and oxidation (R(2) = 0.46). It can be concluded that the variation in the CH4 oxidation was mainly attributed to the properties of the landfill cover soil.


Assuntos
Poluentes Atmosféricos/análise , Eliminação de Resíduos/métodos , Solo/química , Poluição do Ar/estatística & dados numéricos , Monitoramento Ambiental , Malásia , Oxirredução
11.
Water Res ; 45(10): 3065-74, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21511325

RESUMO

This study describes a process for water treatment by continuous adsorption and electrochemical regeneration using an air-lift reactor. The process is based on the adsorption of dissolved organic pollutants onto an adsorbent material (a graphite intercalation compound, Nyex(®)1000) and subsequent electrochemical regeneration of the adsorbent leading to oxidation of the adsorbed pollutant. Batch experiments were carried out to determine the adsorption kinetics and equilibrium isotherm for adsorption of a sample contaminant, the organic dye Acid Violet 17. The adsorbent circulation rate, the residence time distribution (RTD) of the reactor, and treatment by continuous adsorption and electrochemical regeneration were studied to investigate the process performance. The RTD behaviour could be approximated as a continuously stirred tank. It was found that greater than 98% removal could be achieved for continuous treatment by adsorption and electrochemical regeneration for feed concentrations of up to 300 mg L(-1). A steady state model has been developed for the process performance, assuming full regeneration of the adsorbent in the electrochemical cell. Experimental data and modelled predictions (using parameters for the adsorbent circulation rate, adsorption kinetics and isotherm obtained experimentally) of the dye removal achieved were found to be in good agreement.


Assuntos
Técnicas Eletroquímicas/métodos , Purificação da Água/métodos , Adsorção , Ar , Cinética , Microscopia Eletrônica de Varredura , Modelos Químicos , Temperatura , Fatores de Tempo
12.
Waste Manag Res ; 29(8): 863-73, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20858637

RESUMO

The decomposition of municipal solid waste (MSW) in landfills under anaerobic conditions produces landfill gas (LFG) containing approximately 50-60% methane (CH(4)) and 30-40% carbon dioxide (CO(2)) by volume. CH(4) has a global warming potential 21 times greater than CO(2); thus, it poses a serious environmental problem. As landfills are the main method for waste disposal in Malaysia, the major aim of this study was to estimate the total CH(4) emissions from landfills in all Malaysian regions and states for the year 2009 using the IPCC, 1996 first-order decay (FOD) model focusing on clean development mechanism (CDM) project applications to initiate emission reductions. Furthermore, the authors attempted to assess, in quantitative terms, the amount of CH(4) that would be emitted from landfills in the period from 1981-2024 using the IPCC 2006 FOD model. The total CH(4) emission using the IPCC 1996 model was estimated to be 318.8 Gg in 2009. The Northern region had the highest CH(4) emission inventory, with 128.8 Gg, whereas the Borneo region had the lowest, with 24.2 Gg. It was estimated that Pulau Penang state produced the highest CH(4) emission, 77.6 Gg, followed by the remaining states with emission values ranging from 38.5 to 1.5 Gg. Based on the IPCC 1996 FOD model, the total Malaysian CH( 4) emission was forecast to be 397.7 Gg by 2020. The IPCC 2006 FOD model estimated a 201 Gg CH(4) emission in 2009, and estimates ranged from 98 Gg in 1981 to 263 Gg in 2024.


Assuntos
Poluentes Atmosféricos/análise , Metano/análise , Eliminação de Resíduos , Previsões , Efeito Estufa , Malásia , Modelos Teóricos , Gerenciamento de Resíduos
13.
Pediatr Res ; 40(3): 381-7, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8865272

RESUMO

Iron is an important catalyst for free oxygen radicals and lipid peroxidation reactions which may play a role in the pathogenesis of several diseases in premature infants. During the early neonatal period, extracellular iron is available in excessive amounts. We hypothesized that administration of erythropoietin (EPO) mobilizes iron from plasma and inhibits iron-catalyzed reactions. To evaluate this hypothesis, recombinant human EPO (rhEPO) was administered s.c. to premature rabbits delivered at 29-d gestation: one group was kept in room air (RA) and the other in a 100% oxygen environment. Within each group, the animals were randomized to receive placebo or rhEPO at 400 or at 800 U/kg on d 0 and 2 of life. On d 3 or 4, plasma iron and iron saturation of transferrin were assessed. Lipid peroxidation was analyzed in plasma and bronchoalveolar lavage fluid (BAL). Nonsedimentable protein (NSP) and phospholipid content were measured in BAL. Erythropoiesis was evaluated in liver and bone marrow. Treatment with rhEPO decreased plasma iron, decreased iron saturation of transferrin, increased reticulocytes, and increased erythropoiesis in liver and bone marrow in both RA and hyperoxia group. Oxygen exposure increased NSP in BAL and decreased the ability of BAL to inhibit lipid peroxidation as measured by malondialdehyde (MDA) generation compared with RA exposure. In O2-exposed animals, EPO treatment increased the ability of both plasma (EPO 800) and BAL (EPO 400 and 800) to inhibit lipid peroxidation and decreased NSP in BAL (EPO 400). In addition, rhEPO treatment decreased alveolar thickening and proteinaceous exudate in the hyperoxia group. We propose that by stimulating erythropoiesis, rhEPO mobilizes non-heme iron and decreases oxidant injury that depends on the availability of transient metal.


Assuntos
Antioxidantes/farmacologia , Eritropoese/efeitos dos fármacos , Eritropoetina/farmacologia , Hiperóxia/tratamento farmacológico , Doenças do Prematuro/tratamento farmacológico , Ferro/sangue , Animais , Animais Recém-Nascidos , Catálise , Modelos Animais de Doenças , Avaliação Pré-Clínica de Medicamentos , Radicais Livres , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Prematuro/etiologia , Pneumopatias/tratamento farmacológico , Estresse Oxidativo/efeitos dos fármacos , Coelhos , Proteínas Recombinantes
14.
Cleve Clin J Med ; 62(1): 68-70, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7859405

RESUMO

BACKGROUND: Many clinicians believe that prolonged tourniquet application lowers the serum bicarbonate concentration in samples drawn from that limb, but this effect has never been examined prospectively. OBJECTIVE: To test the effect of prolonged tourniquet application before phlebotomy on serum bicarbonate concentration in healthy adults. METHODS: We drew blood samples from 27 healthy adult volunteers without a tourniquet and again 1, 3, and 5 minutes after applying a blood pressure cuff and inflating it to the mean arterial pressure. RESULTS: The mean bicarbonate concentration was 27.3 +/- 2.26 mmol/L (standard deviation) at baseline, 27.7 +/- 2.39 mmol/L at 1 minute, 27.7 +/- 2.05 mmol/L at 3 minutes, and 27.7 +/- 1.96 mmol/L at 5 minutes. The mean change in bicarbonate concentration from baseline was -0.04 +/- 1.02 mmol/L at 1 minute, 0.44 +/- 1.05 mmol/L at 3 minutes, and 0.44 +/- 1.31 mmol/L at 5 minutes. The mean lactate concentration was 1.1 +/- 0.28 mmol/L at baseline, 1.3 +/- 0.65 mmol/L at 1 minute, 1.2 +/- 0.52 mmol/L at 3 minutes, and 1.2 +/- 0.36 mmol/L at 5 minutes. The mean change in lactate concentration from baseline was 0.15 +/- 0.67 mmol/L at 1 minute, 0.11 +/- 0.11 mmol/L at 3 minutes, and 0.12 +/- 0.37 mmol/L at 5 minutes. CONCLUSIONS: Prolonged tourniquet application before phlebotomy does not lower the serum bicarbonate concentration in healthy adults.


Assuntos
Bicarbonatos/sangue , Coleta de Amostras Sanguíneas/métodos , Sangria/métodos , Torniquetes , Adulto , Análise de Variância , Feminino , Humanos , Masculino
15.
Ann Genet ; 36(3): 181-5, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-8117067

RESUMO

A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 47,XX, +inv(13). Her father and three sisters were carriers for inv(13). Herein the authors review briefly familial inv(13)'s and report a new variant involving breakpoints (p13;q11).


Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 13 , Hérnia Inguinal/genética , Criança , Bandeamento Cromossômico , Família , Feminino , Humanos , Cariotipagem , Fenótipo
16.
J Med Genet ; 30(1): 62-4, 1993 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-8423610

RESUMO

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.


Assuntos
Anormalidades Múltiplas/genética , Ectromelia/genética , Ductos Paramesonéfricos/anormalidades , Ossos Pélvicos/anormalidades , Adolescente , Adulto , Consanguinidade , Feminino , Genes Recessivos , Humanos , Recém-Nascido , Iraque , Masculino , Síndrome
18.
Am J Med Genet ; 32(3): 353-5, 1989 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-2729356

RESUMO

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/patologia , Cromossomos Humanos Par 1 , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Transtornos Cromossômicos , Consanguinidade , Humanos , Lactente , Cariotipagem , Linfócitos/ultraestrutura , Masculino
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