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1.
Balkan J Med Genet ; 25(2): 63-70, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37265971

RESUMO

Background: Obesity, type 2 diabetes mellitus (T2DM), and dyslipidemia may result from the interactions of genetic and environmental factors. There are controversial reports concerning the association of polymorphisms (rs1054135, rs16909196 and rs16909187) in the gene of adipocyte fatty acid binding protein (FABP4) with obesity and T2DM. Therefore, we designed this study to determine the association of these polymorphisms with obesity, T2DM, and dyslipidemia among Jordanian subjects. Methods: The study was approved by the National Center for Diabetes, Endocrinology, and Genetics (NCDEG) Institutional Review Board (IRB). A total of 397 subjects were enrolled in the study and divided into four groups as described in materials and methods section. The fatty acid binding protein 4 (FABP4) gene containing (rs1054135, rs16909196 and rs16909187) single nucleotide polymorphisms (SNP) was amplified by polymerase chain reaction (PCR) followed by Sanger DNA sequencing of the PCR product. Results: None of the three SNPs were associated with T2DM (p > 0.05). The rs16909187 and rs16909196 were significantly associated with obesity. The wild type (CC) of rs16909187 was significantly higher among the overweight and obese group compared with normal weight controls (OD = 2.17, 95% CI = 1.18 - 3.96, p =0.01). The wild type of rs16909196 (AA) was significantly higher among the overweight and obese group compared to controls, (OD = 2.26, 95% CI = 1.24 - 4.14, p = 0.01). These results may indicate that the wild-type may be a risk factor for obesity.Only the rs1054135 SNP was significantly associated with increased low density lipoprotein (LDL) levels in the overweight and obese group compared with the controls (p = 0.03). Conclusions: The wild-type genotypes of rs16909196 and rs16909187 may be risk factors for obesity but not T2DM. None of the three SNPs was associated with T2DM.

2.
Diabet Med ; 36(9): 1176-1182, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30614070

RESUMO

AIM: The prevalence of diabetes has been increasing over the past few decades. The objective of this study is to assess the time trends in diabetes between 1994 and 2017 in Jordan. METHODS: Surveys were conducted in 1994, 2004, 2009 and 2017 by the same investigators using generally similar methods. Fasting blood glucose was measured in all surveys. Variables were obtained using structured questionnaires designed specifically for the surveys. Crude and age-specific diabetes prevalence rates were derived for each sex, together with overall, crude and age-standardized prevalence rates. RESULTS: The prevalence of diabetes in men aged ≥ 25 years increased from 14.2% in 1994 to 18.3% in 2004, 26.8% in 2009 and 32.4% in 2017. The corresponding prevalence rates in women were 12.3%, 16.9%, 18.8%, and 18.1%, respectively. The overall age-standardized prevalence rate increased from 13.0% in 1994 to 17.1% in 2004, 22.2% in 2009 and 23.7% in 2017. Known diabetes in the 2017 survey accounted for 82.6% of people with diabetes. A HbA1c of < 59 mmol/mol (7.5%) was observed in 41.4% of participants with known diabetes. CONCLUSION: The results showed a high prevalence of diabetes in Jordan among people aged ≥ 25 years. Prevalence increased from 1994 to 2009, but slowed thereafter. The increase was greater in men than in women. Previously diagnosed diabetes accounted for a high percentage of people with diabetes in all surveys and was highest in 2017 survey, suggesting that the national strategy against diabetes has brought some benefits. Efforts should be made to improve glycaemic control in people with diabetes.


Assuntos
Diabetes Mellitus/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Inquéritos Epidemiológicos , História do Século XX , História do Século XXI , Humanos , Jordânia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Tempo
3.
Public Health ; 149: 130-137, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28628796

RESUMO

OBJECTIVES: There is no sufficient data that evaluate heavy metal content in cosmetic products in Jordan as well as Sudan and Syria. This study aims to assess metal levels which include Cadmium (Cd), Chromium (Cr), Copper (Cu), Nickel (Ni), and Lead (Pb) in cosmetic products. These elements have draft limits because they are identified as potential impurities and are known to be toxic. This study aims to provide information to the population that may be beneficial to public health. STUDY DESIGN: Samples were collected from different brands obtained from markets in Jordan, Sudan, and Syria. Some of the selected cosmetic products were eyeliner, eye pencil, mascara, lipstick, powder, face cream, body cream, sun block, Vaseline, and the traditional eye cosmetic (kohl). The heavy metal content in these samples were determined by atomic absorption spectrometry (AAS). Based on analysis of variance analysis, a significant difference in heavy metal levels was found for samples obtained from Jordanian and Sudanese markets. METHODS: The acid digestion method used in this study was based on procedures recommended by Nnorom et al. with some modifications as follows. (i) A weight of 2.0 g of cosmetic sample was dissolved in a mixture of 6 mL of high quality concentrated 69% nitric acid (HNO3; Merck, Darmstadt, Germany) and 4 mL of concentrated 37% hydrochloric acid (Scharlau, Spain) in a porcelain crucible and heated on a hotplate to near dryness. (ii) An aliquot of 15 mL HNO3 (1.00 M) was added to the digested sample and filtered through a Whatman No. 40 filter paper. (iii) The digested sample was transferred quantitatively into a 25 mL volumetric flask and then diluted with deionized water. (iv) Each digested sample was evaporated at 70 °C to about 1 mL and transferred into a polyethylene flask and diluted with 25 mL deionized water. (v) Blank was treated in the same procedure. RESULTS: In Jordan the concentration ranges of heavy metals in the collected samples were: Cd (0.03-0.10 µg/g), Cr (0.0-1.00 µg/g), Cu (0.60-7.40 µg/g), Ni (0.50-3.60 µg/g), and Pb (0.30-15.4 µg/g). Whereas, in Sudanese market the concentration ranges were: Cd (0.01-0.15 µg/g), Cr (0.00-27.9 µg/g), Cu (0.60-10.10 µg/g), Ni (0.00-5.70 µg/g), and Pb (0.02-3.80 µg/g). Also, the concentration ranges of heavy metals in Syrian market were: Cd (0.04-0.056 µg/g), Cr (0.24-0.83 µg/g), Cu (0.61-1.27 µg/g), Ni (0.73-1.41 µg/g), and Pb (4.85-27.70 µg/g). Results revealed that kohl samples have the highest concentration of most of the studied metals, particularly Pb. CONCLUSIONS: Based on the results obtained, it is likely to conclude the following: (i) It is not possible to completely eliminate the presence of heavy metals from cosmetic products after manufacturing. However, the quality of the products can be improved by careful selection of raw materials, taking in consideration heavy metal levels. (ii) Heavy metal concentration in lipstick differs with different manufacturers' colors and shade. Statistically significant associations between Pb level and the cosmetic type were found. (iii) Heavy metals levels including Cd, Cr, Cu, Ni, and Pb may impose risk in daily use and repeated application as well as in ingestion through the mouth even at concentration below the allowed limits. (iv) It is the manufacturers' responsibility to ensure that the finished cosmetic product contains the lowest levels possible of heavy metals. So it does not exceed the limits set by health authorities.


Assuntos
Comércio/estatística & dados numéricos , Cosméticos/química , Metais Pesados/análise , Cádmio/análise , Cromo/análise , Cobre/análise , Humanos , Jordânia , Chumbo/análise , Níquel/análise , Espectrofotometria Atômica , Sudão , Síria
4.
East Mediterr Health J ; 21(10): 729-35, 2015 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-26750163

RESUMO

Despite their reported benefits in terms of glycaemic control, insulin analogues are expensive for patients in developing countries. This study in Jordan aimed to compare the effectiveness and adverse events of premixed human insulin (BHI30) versus premixed insulin analogue (BIAsp30) in patients with type 2 diabetes. In a retrospective cohort study from October 2012 to March 2013, outcomes (HbA1c, weight, hypoglycaemia and lipohypertrophy) were compared at baseline and 6 months after treatment in 628 patients. BHI30 produced a significantly greater reduction in HbA1c than did BIAsp30. This difference in HbA1c remained significant after controlling for the effects of age, sex, duration of diabetes, body mass index and hypoglycaemia (ß-coefficient was -0.18 in favour of BHI30). Weight gain and mild hypoglycaemia was significantly higher with BHI30 than with BIAsp30. BHI30 achieved better reduction in HbA1c compared with BIAsp30, with less cost, slightly more weight gain and greater reported mild hypoglycaemia.


Assuntos
Insulinas Bifásicas/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina Aspart/uso terapêutico , Insulina Isófana/uso terapêutico , Insulina/uso terapêutico , Idoso , Insulinas Bifásicas/economia , Países em Desenvolvimento , Feminino , Humanos , Hipoglicemiantes/economia , Insulina/economia , Insulina Aspart/economia , Insulina Isófana/economia , Jordânia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
5.
East Mediterr Health J ; 20(1): 51-5, 2014 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-24932934

RESUMO

The prevalence of coeliac disease among patients with autoimmune hypothyroidism has not been studied before in Jordan and other Arab countries. A cross-sectional record-based review was made of all adult autoimmune hypothyroidism patients who attended a referral centre in Jordan, during an 8-month period. Coeliac disease in these patients was diagnosed by the attending physician based on positive serological tests for anti-endomysial antibodies IgA and IgG followed by duodenal biopsy to confirm the diagnosis of coeliac disease. Of 914 patients recruited, 117 (12.8%) were seropositive for coeliac disease. Of 87 seropositive patients who underwent duodenal biopsy, 39 had positive histological findings of coeliac disease (44.8%). Extrapolating from these findings the overall rate of coeliac disease among autoimmune hypothyroidism patients was estimated to be 5.7%. In multivariate logistic regression coeliac disease was significantly associated with older age (> 40 years), presence of other autoimmune diseases, vitamin B12 deficiency and anaemia.


Assuntos
Doença Celíaca/epidemiologia , Doença de Hashimoto/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Estudos Transversais , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Jordânia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Análise de Regressão , Tireoidite Autoimune
6.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118623

RESUMO

The prevalence of coeliac disease among patients with autoimmune hypothyroidism has not been studied before in Jordan and other Arab countries. A cross-sectional record-based review was made of all adult autoimmune hypothyroidism patients who attended a referral centre in Jordan, during an 8-month period. Coeliac disease in these patients was diagnosed by the attending physician based on positive serological tests for anti-endomysial antibodies IgA and IgG followed by duodenal biopsy to confirm the diagnosis of coeliac disease. Of 914 patients recruited, 117 [12.8%] were seropositive for coeliac disease. Of 87 seropositive patients who underwent duodenal biopsy, 39 had positive histological findings of coeliac disease [44.8%]. Extrapolating from these findings the overall rate of coeliac disease among autoimmune hypothyroidism patients was estimated to be 5.7%. In multivariate logistic regression coeliac disease was significantly associated with older age [> 40 years], presence of other autoimmune diseases, vitamin B12 deficiency and anaemia

7.
Sex Dev ; 7(6): 295-302, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23988405

RESUMO

This study presents findings in Turner syndrome (TS) patients from the Jordanian population, with focus on 4 patients with Y chromosomal abnormalities. From 1989 to 2011, 504 patients with TS stigmata were referred to our institute for karyotyping, resulting in 142 positive TS cases. Of these, 62 (43.7%) had the typical 45,X karyotype and the remaining individuals (56.3%) were found to be mosaics. Fifteen TS patients (10.5%) carried a structural abnormality of the Y chromosome and presented with the mosaic 45,X/46,XY karyotype. From these, 4 TS cases were investigated further. Karyotyping revealed that 1 patient carried a small supernumerary marker chromosome, whereas cytogenetic and molecular analyses showed that 3 patients carried 2 copies of the SRY gene. Further analysis by SRY sequencing revealed no mutations within the gene. The analyzed patients were found to be phenotypically either females or males, depending on the predominance of the cell line carrying the Y chromosome. This study demonstrates the importance of detailed cytogenetic analysis (such as FISH) in TS patients, and it also emphasizes the need for molecular analysis (such as PCR and sequencing) when fragments of the Y chromosome are present.


Assuntos
Cromossomos Humanos Y/genética , Aberrações dos Cromossomos Sexuais , Síndrome de Turner/genética , Adolescente , Adulto , Pré-Escolar , Bandeamento Cromossômico , Cromossomos Humanos X , Análise Citogenética , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Hipertensão/genética , Hibridização in Situ Fluorescente , Jordânia , Cariotipagem , Masculino , Pessoa de Meia-Idade , Monossomia , Mosaicismo , Fenótipo , Proteína da Região Y Determinante do Sexo/genética
8.
J Thromb Thrombolysis ; 35(1): 83-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23011539

RESUMO

Thrombosis is a major cause of morbidity and mortality worldwide. Genetic factors are one component of thrombosis. We studied the prevalence of two mutations that are known risk factors in the pathogenesis of arterial and venous thrombosis in the genetically isolated Circassian population in Jordan. Factor II G20210A and Factor V Leiden single nucleotide polymorphisms were analysed by polymerase chain reaction and restriction fragment length polymorphism method in 104 random unrelated subjects from the Circassian population in Jordan. The prevalence rates among the Circassian population in Jordan for Factor II G20210A was 12.2% and for Factor V Leiden was 7.7%. We have shown that the population is in Hardy-Weinberg equilibrium and that the prevalences of both mutations are within the range of other ethnic groups. This is the first study to describe Circassian health related genetic characteristics in Jordan. Such population-based studies will contribute to understanding the interaction between genetic and environmental risk factors. It will remain to be seen whether carriers of Factor II G20210A and Factor V Leiden are more likely to develop thrombosis. This issue should be studied in the future to determine the need for screening of these mutations particularly in thrombophilia patients.


Assuntos
Fator V/genética , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Protrombina/genética , Trombofilia/genética , Trombose/genética , Adolescente , Adulto , Idoso , Substituição de Aminoácidos , Feminino , Humanos , Jordânia/epidemiologia , Jordânia/etnologia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Trombofilia/etnologia , Trombofilia/mortalidade , Trombose/etnologia , Trombose/mortalidade
9.
East Mediterr Health J ; 18(5): 527-31, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22764442

RESUMO

Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan.


Assuntos
Anormalidades Múltiplas , Transtornos do Crescimento , Hipoparatireoidismo , Deficiência Intelectual , Osteocondrodisplasias , Convulsões , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 1/genética , Consanguinidade , Feminino , Testes Genéticos , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/genética , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Jordânia , Masculino , Chaperonas Moleculares/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Fenótipo , Convulsões/diagnóstico , Convulsões/genética
10.
Eur Arch Psychiatry Clin Neurosci ; 262(4): 321-7, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21993566

RESUMO

Although low serum 25-hydroxyvitamin D (25(OH)D) and elevated serum parathyroid hormone (PTH) have been associated with depression in clinical settings, this link in community-dwelling individuals is inconclusive. The present study aimed at examining the association between serum 25(OH)D and PTH levels and the presence of depression in a national population-based household sample of 4,002 Jordanian participants aged ≥25 years. The DASS21 depression scale was used to screen for depression, and serum concentrations of 25(OH)D and PTH were measured by radioimmunoassay. Multiple logistic regression models were used to explore the association between serum 25(OH)D and PTH levels and depression. The unadjusted odds ratio (OR) decreased linearly with increasing quartiles of serum 25(OH)D (P(trend) = 0.00). The OR for having depression was significantly higher among individuals in the first and second quartiles (OR = 1.4, 1.23, respectively) than among those in the fourth quartile (P values = 0.00 and 0.03, respectively). This relationship remained significant after adjusting for age, sex, marital status, education, BMI, serum creatinine, number of chronic diseases (OR = 1.39 and 1.21 and P values = 0.00 and 0.05, respectively) and after further adjustment for exercise, altitude, and smoking (OR = 1.48 and 1.24, respectively, and P values = 0.00 and 0.03, respectively). No significant association was found between serum PTH levels and depression. The decrease in risk of depression among participants started to be significant with serum 25(OH) D levels higher than 42.3 ng/ml (lower limit of the range of the third quartile). This value may help pinpoint the desirable level of serum 25(OH)D to be attained to help aid the prevention and treatment of depression.


Assuntos
Transtorno Depressivo , Hormônio Paratireóideo/sangue , Vitamina D/análogos & derivados , Adulto , Idoso , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/epidemiologia , Transtorno Depressivo/metabolismo , Feminino , Disparidades nos Níveis de Saúde , Humanos , Jordânia/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Medição de Risco , Fatores de Risco , Fatores Socioeconômicos , Vitamina D/sangue
11.
Int J Hypertens ; 2011: 828797, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22187623

RESUMO

The study examined prevalence, awareness, treatment and control of hypertension (HTN), and associated factors and to evaluate the trend in hypertension between 2009 (period 2) and 1994-1998 (period 1). A national sample of 4117 adults aged 25 years and older was selected. Prevalence rate of HTN (SBP ≥ 140 or DBP ≥ 90 or on antihypertensive therapy) was 32.3% and was higher than the 29.4% prevalence rate reported in period 1. Prevalence rate was significantly higher among males, older age groups, least educated, obese, and diabetics than their counterparts. The rate of awareness among hypertensives was 56.1% and was higher than the 38.8% rate reported form period 1 data. Awareness was positively associated with age, smoking, and diabetes for both men and women, and with level of education and body mass index for men. Rate of treatment for HTN among aware patients was 63.3% and was significantly higher than the 52.8% rate reported in period1. Control rate of HTN among treated hypertensives was 39.6%; significantly higher than the 27.9% control rate in period 1. Control of HTN was positively associated with age but only for women. In conclusion, HTN is still on the rise in Jordan, and levels of awareness and control are below the optimal levels.

12.
Bioresour Technol ; 100(7): 2147-54, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19070481

RESUMO

The catalytically oxidized olive mill wastewater (OMW) was subjected to continuous anaerobic treatment using two treatment schemes. The 1st step in both schemes was an up-flow anaerobic sludge blanket (UASB) reactor (20l). The 2nd step was either a hybrid UASB reactor or a classical one (10l, each). The 1st stage was operated at constant hydraulic retention time (HRT) of 24h. The organic loading rate (OLR) varied from 3.4 to 4.8 kg COD/m(3)d depending on the quality of the pretreated wastewater. The results obtained indicated that, the 1st step UASB reactor achieved a COD percentage removal value of 53.9%. Corresponding total BOD(5) and TSS removal were 51.5% and 68.3%, respectively. The results obtained indicated that the hybrid UASB reactor as a 2nd step produced better quality effluent as compared to the classical one. This could be attributed to the presence of the packing curtain sponge with active biomass in the sedimentation part of hybrid UASB reactor which minimizes suspended solids washout, consequently enhancement of the efficiency of the reactor. Available data showed that a two stage system consisting of a classical and a hybrid UASB reactor operated at a total HRT of 48h and OLR of 2.0 kg COD/m(3)d provided promising results. Removal values of COD(total), BOD(5 total), TOC, VFA, oil and grease were 83%, 84%, 81%, 93% and 81%, respectively. Based on the available data, the use of a two stage anaerobic system consisting of a classical UASB reactor followed by a hybrid UASB as a post-treatment step for catalytically oxidized OMW is recommended.


Assuntos
Resíduos Industriais , Olea/metabolismo , Eliminação de Resíduos Líquidos , Anaerobiose , Biodegradação Ambiental , Reatores Biológicos , Catálise , Ácidos Graxos Voláteis/análise , Hidrólise , Metano/metabolismo , Oxirredução , Oxigênio/isolamento & purificação , Fatores de Tempo
13.
J Hazard Mater ; 162(2-3): 1536-41, 2009 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-18703283

RESUMO

The use of an integrated treatment scheme consisting of wet hydrogen peroxide catalytic oxidation (WHPCO) followed by two-stage upflow anaerobic sludge blanket (UASB) reactor (10l each) for the treatment of olive mill wastewater was the subject of this study. The diluted wastewater (1:1) was pre-treated using Fenton's reaction. Optimum operating conditions namely, pH, H(2)O(2) dose, Fe(+2), COD:H(2)O(2) ratio and Fe(+2):H(2)O(2) ratio were determined. The UASB reactor was fed continuously with the pre-treated wastewater. The hydraulic retention time was kept constant at 48h (24h for each stage). The conventional parameters such as COD, BOD, TOC, TKN, TP, TSS, oil and grease, and total phenols were determined. The concentrations of polyphenolic compounds in raw wastewater and effluents of each treatment step were measured using HPLC. The results indicated a good quality final effluent. Residual concentrations of individual organic compounds ranged from 0.432 mg l(-1) for rho-hydroxy-benzaldhyde to 3.273 mg l(-1) for cinnamic acid.


Assuntos
Anaerobiose , Indústria Alimentícia , Resíduos Industriais , Óleos de Plantas , Poluentes da Água , Concentração de Íons de Hidrogênio , Azeite de Oliva
14.
Br J Cancer ; 99(3): 488-90, 2008 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-18665177

RESUMO

Despite the major role of the AKT/PKB family of proteins in the regulation of many growth and survival mechanisms in the cell, and the increasing evidence suggesting that AKT disruption could play a key role in many human malignancies, no major mutations of AKT genes had been reported, until very recently when Carpten et al reported a novel transforming mutation (E17K) in the pleckstrin homology domain of the AKT1 gene in solid tumours. Several laboratories are now screening for this mutation in different malignancies, and, recently, the mutation was described by Malanga et al in 1.9% of lung cancer patients. Considering the importance of the PI3K/AKT pathway in mediating survival and antiapoptotic signals in the B-cell types of chronic lymphocytic leukaemia (CLL) and acute lymphoblastic leukaemia (ALL), we sequenced the AKT1 exon 3 for the above mentioned mutation in 87 specimens, representing 45 CLLs, 38 ALLs and 4 prolymphocytic leukaemia (PLL) cases, which are all of B-cell origin. Our results show that the mutation E17K/AKT1 was not detected in the pleckstrin homology domain of AKT1 of the investigated cases. We conclude that this mutation is not a major event in B-cell-derived lymphoid leukaemias.


Assuntos
Linfoma de Burkitt/genética , Transformação Celular Neoplásica/genética , Leucemia Linfocítica Crônica de Células B/genética , Leucemia Promielocítica Aguda/genética , Mutação Puntual , Proteínas Proto-Oncogênicas c-akt/genética , Sequência de Bases , Linfoma de Burkitt/patologia , Primers do DNA , Éxons , Feminino , Humanos , Leucemia Linfocítica Crônica de Células B/patologia , Leucemia Promielocítica Aguda/patologia , Masculino
16.
J Trop Pediatr ; 47(4): 239-42, 2001 08.
Artigo em Inglês | MEDLINE | ID: mdl-11523766

RESUMO

All patients presenting with hereditary hemolytic anemia, (n = 143) over a period of 18 months were enrolled in a study to evaluate the prevalence of hepatitis B, hepatitis C and HIV in multi-transfused patients in Jordan, and to identify possible related risk factors. All patients were treated in the Thalassemia Unit at Princess Rahma Teaching Hospital. Relevant clinical data were collected. Blood specimens were taken from these patients and tested for HbsAg, HbsAb, hepatitis core IgMAb, hepatitis core IgGAb, HCVAb, and ELISA for HIV. Fifty-eight (40.5 per cent) of the specimens were HCVAb positive, while only five (3.5 per cent) of them were positive for HBsAg. None of the specimens were positive for HIV. The frequency of blood transfusion and the time of diagnosis before or after 1995, were investigated as possible risk factors for viral seropositivity. Only the time of diagnosis was a statistically significant risk factor for HCVAb positivity (OR = 4.49; p = 0.005). In conclusion, hepatitis C acquisition is a serious risk for multi-transfused patients in Jordan. Hepatitis B is relatively less common. Blood screening initiated after 1995 in Jordan has significantly reduced the risk of hepatitis C associated with blood transfusion.


Assuntos
Anemia Hemolítica Congênita/terapia , Hepatite B/etiologia , Hepatite C/etiologia , Reação Transfusional , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Infecções por HIV/epidemiologia , Infecções por HIV/etiologia , Hepatite B/epidemiologia , Hepatite C/epidemiologia , Humanos , Lactente , Jordânia/epidemiologia , Testes de Função Hepática , Masculino , Prevalência
17.
Ann Neurol ; 48(6): 877-84, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11117544

RESUMO

Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at theta = 0.001 was obtained between the disease and locus D9S1878.


Assuntos
Cromossomos Humanos Par 9/genética , Neuropatia Hereditária Motora e Sensorial/genética , Adolescente , Adulto , Criança , Mapeamento Cromossômico , Feminino , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Escore Lod , Masculino , Condução Nervosa/genética , Condução Nervosa/fisiologia , Linhagem
18.
Ann N Y Acad Sci ; 883: 65-8, 1999 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-10586232

RESUMO

A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.


Assuntos
Cromossomos Humanos Par 9 , Neuropatia Hereditária Motora e Sensorial/genética , Mapeamento Cromossômico , Consanguinidade , Feminino , Neuropatia Hereditária Motora e Sensorial/classificação , Neuropatia Hereditária Motora e Sensorial/patologia , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Jordânia , Masculino , Linhagem , Nervo Sural/patologia
20.
J Pharm Sci ; 88(3): 319-26, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10052990

RESUMO

In water, the antineoplastic drug cisplatin, cis-[PtCl2(NH3)2] (1) hydrolyses slowly to the aqua complexes cis-[Pt(NH3)2Cl(H2O)]+ (2) and, to a small extent, cis-[Pt(NH3)2(H2O)2]2+ (3), which are thought to play an important role in the metabolism of cisplatin. HPLC is a useful technique for monitoring 2 and 3, but only if the components of the mobile phase used in the reverse phase HPLC technique are unreactive toward these aqua complexes under the conditions of the experiment. 15N Nuclear magnetic resonance (NMR) with samples highly enriched (>98%) in 15N has been used to check the reactivity of 2 and 3 toward substances commonly used as components of the mobile phase. The results reported herein indicate that acetonitrile, often used as an organic modifier, reacts readily with 2 and 3. Methanol, also commonly employed, is much less reactive. Carboxylic acids RCO2H (R = CH3, H, CF3), which are frequently used to adjust pH of the mobile phase, also react readily with 2 and 3. Trifluoromethanesulfonic acid ("triflic acid"), CF3SO3H, is unreactive. Neither hexanesulfonic acid nor sodium dodecyl sulfate (SDS), used as "ion-pairing agents", reacts significantly with 2 or 3 under the experimental conditions, but SDS gives better peak separation. Commercial SDS must, however, be purified from chloride contamination. From our studies, optimal conditions for HPLC separation of 1, 2, and 3, with a C18 stationary phase at 37 degrees C, require an aqueous mobile phase with 3% v/v methanol, 0.05 mM SDS, and pH 2.5 (adjusted with triflic acid). This technique was then used to measure levels of 1, 2, and 3 in ultrafiltered serum after incubation for various times with cisplatin at 37 degrees C.


Assuntos
Antineoplásicos/química , Cromatografia Líquida de Alta Pressão/métodos , Cisplatino/química , Acetonitrilas/química , Álcoois/química , Antineoplásicos/sangue , Ácidos Carboxílicos/química , Cisplatino/sangue , Humanos , Concentração de Íons de Hidrogênio , Hidrólise , Mesilatos/química , Ressonância Magnética Nuclear Biomolecular , Reprodutibilidade dos Testes , Soluções , Água/química
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