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1.
Biochem Genet ; 2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38294591

RESUMO

Semen possesses a variety of antioxidant defense mechanisms which protect sperm DNA from the damaging effects of oxidative stress. Correlation between antioxidant genes variants and sperm DNA fragmentation (SDF) level is not sufficiently studied. Therefore, we investigated the association between several single nucleotide polymorphisms (SNPs): CYP1A1 (rs1048943A > G), CYP4F2 (rs2108622G > A), NRF2 (rs6721961C > A), PON1 (rs662A > G), NOS3 (rs1799983G > T), GSTM1 (null), CAT (rs1001179C > T), SOD2 (rs4880A > G), GSTP1 (rs1695A > G), PON2 (rs7493G > C), EPHX2 (rs1042064T > C), and AHR (rs2066853G > A) and elevated SDF. The study employed a case-control design where, the allele and genotype frequencies of the selected SNPs were compared between 75 semen samples with abnormal SDF (the cases) and 75 samples with normal SDF (the controls). DNA was extracted from the semen samples and allele-specific PCR (AS-PCR) was used for genotyping the SNPs. Relevant data were collected from the patients' records et al.-Basma Fertility Center. Suitable statistical tests and multifactorial dimensionality reduction (MDR) test were used to anticipate SNP-SNP interactions. Comparison of semen parameters revealed significant differences between cases and controls in terms of liquefaction time, sperm total motility, and normal form. Genotype frequencies of NOS3 G > T (GT), SOD2 A > G (AA and AG), EPHX2 T > C (CC and CT), and AHR G > A (GA and GG) were significantly different between cases and controls. Allele frequencies of SOD2 (G-allele), and EPHX2 (T-allele) also significantly varied between cases and controls. MDR analysis revealed that the NOS3, SOD2, and EPHX2 SNPs combination has the highest impact on SDF. The study findings suggest that genetic variations in genes involved antioxidant defenses contribute to abnormal SDF.

2.
Pediatr Hematol Oncol ; 41(2): 103-113, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37578068

RESUMO

Acute lymphoblastic leukemia (ALL) is the most frequent type of pediatric cancer. Germline single nucleotide polymorphisms (SNPs), including ARID5B (rs10821936 T/C), IKZF1 (rs4132601 T/G), GATA3 (rs3824662 G/T), CEBPE (rs2239633 G/A), and CDKN2A (rs3731217 A/C) have been linked to pediatric ALL in different populations. Hitherto, no previous studies have tested the relationship between these SNPs and pediatric ALL in Gaza strip. Therefore, we investigated the association between these polymorphisms and the occurrence of childhood ALL in this part of Palestine. This case-control study recruited 100 healthy controls and 78 ALL patients. Allele-specific PCR (AS-PCR) technique was used for SNPs genotyping. Relevant statistical tests were used and the multifactor dimensionality reduction (MDR) approach was applied in the analysis of gene-gene interactions. Minor alleles of ARID5B rs10821936 T/C (p = 0.007) and IKZF1 rs4132601 T/G (p = 0.045) were significantly higher in ALL patients. The homozygous (TT) genotype of GATA3 rs3824662 G/T (p = 0.038), (CC) of ARID5B rs10821936 T/C (p = 0.008), and (AC and CC) genotypes of CDKN2A rs3731217 A/C (p < 0.0001) were significantly higher in ALL cases. On MDR analysis, the best model for ALL risk was the five-factor model combination of the examined SNPs (CVC = 10/10; TBA = 0.632; p < 0.0001). This work demonstrates the association of ARID5B rs10821936 T/C, IKZF1 rs4132601 T/G, GATA3 rs3824662 G/T, and CDKN2A rs3731217 A/C polymorphisms with increased risk of pediatric ALL among a patient cohort from Gaza Strip. Further studies with a larger sample size are needed in order to confirm these findings and test the value of these SNPs in prognosis and treatment sensitivity.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina , Proteínas de Ligação a DNA , Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Humanos , Proteínas de Ligação a DNA/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Fator de Transcrição Ikaros/genética , Células Germinativas , Fator de Transcrição GATA3/genética , Proteínas Estimuladoras de Ligação a CCAAT/genética , Fatores de Transcrição/genética
3.
Environ Mol Mutagen ; 62(5): 328-334, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34056770

RESUMO

For many years, organophosphate (OP) pesticides have been considered an attractive choice for pest control around the world. Excessive use of OPs is a concerning issue for human health. Although the genotoxic effect of these pesticides has been reported, studies that examined their aneuploidy-inducing effect are limited or absent. Therefore, we sought to investigate the potential of OP pesticides, which are extensively used in the Gaza Strip, to induce aneuploidy in human peripheral blood lymphocyte (PBL) cultures. To achieve this goal, we first assessed the cytotoxic effect of selected concentrations of Nemacur (fenamiphos), Rogor (dimethoate), and Dursban (chlorpyrifos) on human PBL cultures by the MTT assay. Then, fluorescence in situ hybridization (FISH) technique was used to determine the frequency of induced aneuploidy (chromosome loss or gain) in human PBL cultures treated with different concentrations of the three types of OPs. We found that all the OPs treatments used did not show appreciable cytotoxic effects. Increase in frequencies of aneuploidy, chromosome loss, and chromosome gain were observed after each treatment as compared to the results of their respective solvent control cultures, and that increase of aneuploidy was significantly evident at 0.050 mg/ml of Nemacur. It was also noticed that chromosome loss is more frequent than chromosome gain for each concentration of the three types of OPs. While the aneuploidy induction effect of the investigated OPs is not significant (except for the 0.050 mg/ml of Nemacur), these pesticides should be examined further since many people are exposed to them.


Assuntos
Aneuploidia , Clorpirifos/efeitos adversos , Aberrações Cromossômicas/induzido quimicamente , Dimetoato/efeitos adversos , Leucócitos Mononucleares/patologia , Linfócitos/patologia , Compostos Organofosforados/efeitos adversos , Inibidores da Colinesterase/efeitos adversos , Dano ao DNA , Humanos , Inseticidas/efeitos adversos , Leucócitos Mononucleares/efeitos dos fármacos , Linfócitos/efeitos dos fármacos , Praguicidas/efeitos adversos
4.
Med Princ Pract ; 19(2): 99-104, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20134171

RESUMO

OBJECTIVE: This study was conducted to investigate the correlation between spontaneous recurrent miscarriage (RM) and common polymorphisms in angiotensin-converting enzyme (ACE), plasminogen activator inhibitor 1 (PAI-1) and endothelium-derived nitric oxide synthase 3 (NOS3) genes among women experiencing RM in the Gaza Strip. METHODS: The presence of these genetic profiles was determined for 100 women who had had at least 3 constitutive abortions and 100 controls without any history of abortion using molecular biological techniques. RESULTS: The ACE D/D polymorphism was present in 49% of the study population and in 54% of the controls (p = 0.479). Similarly, there was no significant difference detected in the distribution of polymorphisms for PAI-1, with the 4G/4G genotype present in the study group and in controls (p = 1.00). NOS3 4a/4a was present in 4% of the study group and in none of the 100 controls (p = 0.123). In this study, we also discovered a new variant in the NOS3 gene which was named 4c allele and was encountered in 1 patient and in 1 control subject. CONCLUSION: There was no significant association between ACE I/D, PAI-1 4G/5G and NOS3 4a/4b and the occurrence of first-trimester RM. In-depth investigation of the association of NOS3 4a/4a with RM is strongly recommended.


Assuntos
Aborto Habitual/genética , Óxido Nítrico Sintase Tipo III/genética , Peptidil Dipeptidase A/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo Genético , Aborto Habitual/epidemiologia , Adulto , Estudos de Casos e Controles , Primers do DNA , Feminino , Predisposição Genética para Doença/epidemiologia , Genótipo , Humanos , Pessoa de Meia-Idade , Oriente Médio/epidemiologia , Reação em Cadeia da Polimerase , Pós-Menopausa , Gravidez , Fatores de Risco , Adulto Jovem
5.
Med Princ Pract ; 19(6): 457-62, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20881413

RESUMO

OBJECTIVE: To examine the role of calpain-10 SNP-44, -43, -63 and del/ins-19 in genetic susceptibility to type 2 diabetes mellitus (T2DM) and associations with triglycerides and total cholesterol in a group of subjects residing in the Gaza Strip. SUBJECTS AND METHODS: Ninety-six individuals were examined: 48 T2DM patients and 48 controls. The groups were genotyped for calpain-10 SNP-44, -43, -63, and del/ins-19. Mutagenically separated polymerase chain reaction was used to examine SNP-44; del/ins-19 was examined by electrophoresis of the PCR product on agarose gel, while the restriction fragment length polymorphism method was used for SNP-43 and -63. RESULTS: There was evidence that the C allele at SNP-44 played a possible role in susceptibility to T2DM (p = 0.01). T2DM patients with G/A genotype were found to have higher levels of total cholesterol in comparison to those homozygous for allele 1 (G/G) in SNP-43. Total cholesterol levels increased in T2DM patients who are homozygous for del/ins-19 allele 2, in T2DM patients with the 121/221 haplotype combination, and in control subjects with the haplotype combination 111/121. CONCLUSION: SNP-44 polymorphism of the calpain-10 gene has a significant association with T2DM patients in the Gaza strip. Certain polymorphisms of calpain-10 also have associations with the levels of total cholesterol in both T2DM patients and controls.


Assuntos
Árabes , Calpaína/genética , Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Colesterol/sangue , Diabetes Mellitus Tipo 2/etnologia , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Oriente Médio/epidemiologia , Reação em Cadeia da Polimerase , Triglicerídeos/sangue
6.
Ecotoxicol Environ Saf ; 72(6): 1805-9, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19201024

RESUMO

A new set of room temperature ionic liquids (RTIL), tetrabutylammonium (TBA) salts: formate, acetate, propionate, butyrate, benzoate, nitrobenzoate, cinnamate, salicylate, sulfanilate, linoleate, and oleate, were prepared by neutralization of tetrabutylammonium hydroxide (TBA OH) and the corresponding acid. The compounds showed interesting chemical and biological properties. They are soluble in water and organic solvents producing conducting solutions and are effective against certain Gram-negative as well as Gram-positive bacteria. Notably, they affected some proteins such as bovine serum albumin (BSA) and catalase (CAT) as inferred by following the fluorescence emission spectra.


Assuntos
Anti-Infecciosos/toxicidade , Líquidos Iônicos/toxicidade , Compostos de Amônio Quaternário/toxicidade , Anti-Infecciosos/química , Catalase/efeitos dos fármacos , Bactérias Gram-Negativas/efeitos dos fármacos , Bactérias Gram-Positivas/efeitos dos fármacos , Líquidos Iônicos/química , Compostos de Amônio Quaternário/química , Soroalbumina Bovina/efeitos dos fármacos , Espectrometria de Fluorescência , Temperatura
7.
Case Rep Med ; 2019: 4561761, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30936921

RESUMO

Partial trisomy 13 is a rare syndrome that usually culminates in death within the first six months of the infant's life. We present a rare case of partial trisomy 13q with exclusive clinical manifestations. The full-term male baby was born by normal vaginal delivery, his birth weight was 3500 grams, and head circumference was 30 cm. He had dysmorphic features in the form of microcephaly, trigonocephaly, depressed nose bridge, hypotelorism, long philtrum, high arch palate, left-sided inguinal hernia, hydrocele, and laryngomalacia. He was operated for pyloric stenosis at the age of 28 days. He also had left-sided severe pelvic-ureteral junction stenosis which was repaired by nephrostomy followed by pyeloplasty. Furthermore, he had right-sided vesicoureteral reflux grade III, right-sided hydronephrosis, small ventricular septum defect, small atrial septum defect, left lung lower lobe sequestration, and craniosynostosis of metopic suture. The baby had global developmental delay and failure to thrive. Cytogenetic study showed a 46,XY, der(8)t(8;13)(p23;q14) karyotype, emphasizing a partial trisomy 13q syndrome with a concomitant partial monosomy in 8p. The baby passed away, in the intensive care unit, at the age of 7 months due to respiratory failure resulting from recurrent chest infections. This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. Cytogenetic study for both parents is recommended in order to pinpoint the origin of the translocation and to provide the proper counseling for the family.

8.
J Gastroenterol Hepatol ; 23(8 Pt 2): e330-3, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17854424

RESUMO

BACKGROUND AND AIM: Diarrhea and acute gastroenteritis are among the leading causes of illnesses and death in infants and children throughout the world, especially in developing countries, Globally, Salmonella and Shigella remain the major contributors to acute enteric infections and diarrhea. METHODS: In the present study, Shigella- and Salmonella-related diarrhea was studied among 3570 children in Gaza, Palestine from January 1999 to September 2006 to determine the prevalence and the antimicrobial susceptibility of the isolates. RESULTS: The frequency of isolation was 1.8% (65/3570) for Salmonella spp. and 0.8% (28/3570) for Shigella spp. Shigella flexneri (16/28) was the most frequently isolated Shigella species. Most of the Shigella isolates were resistant to trimethoprim-sulfamethoxazole (89%), ampicillin (79%) and chloramphenicol (46%) and most of the Salmonella isolates showed resistance to ampicillin (62%), trimethoprim-sulfamethoxazole (35%), chloramphenicol (35%) and cephalexin (26%). CONCLUSION: These data reinforce the need for continuous monitoring of microbiological and antimicrobial surveillance and the necessity to regulate the use of antimicrobials. According to the current study, ampicillin, trimethoprim-sulfamethoxazole and chloramphenicol should not be used as empiric treatment of diarrhea in children.


Assuntos
Disenteria Bacilar/microbiologia , Testes de Sensibilidade Microbiana , Infecções por Salmonella/microbiologia , Salmonella/isolamento & purificação , Shigella/isolamento & purificação , Criança , Disenteria Bacilar/tratamento farmacológico , Feminino , Humanos , Lactente , Masculino , Oriente Médio , Salmonella/efeitos dos fármacos , Infecções por Salmonella/tratamento farmacológico , Shigella/efeitos dos fármacos
9.
Med Princ Pract ; 17(4): 296-301, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18523397

RESUMO

OBJECTIVES: To determine the etiology of acute diarrhea in Palestinian children under 5 years of age and to improve knowledge of the etiology of gastrointestinal pathogens using traditional and molecular diagnostic techniques. MATERIALS AND METHODS: Various common enteropathogens (viral, bacterial and parasites) associated with diarrhea were investigated by conventional and molecular techniques (PCR) in 150 children less than 5 years of age admitted to the Central Pediatric Hospital, Gaza Strip, Palestine. RESULTS: The occurrence of enteropathogens identified was as follows: rotavirus 42/150 (28%), Entamoeba histolytica/dispar 23/150 (15%), Shigella spp. 9/150 (6%), Campylobacter coli/jejuni and Escherichia coli O157:H7 7/150 (5%) each, Salmonella spp. 3/150 (2%), Giardia intestinalis 1/150 (1%), and Strongyloides stercoralis 1/150 (1%) of the samples. Shigella and Salmonella isolates were tested for their susceptibility to common antimicrobial agents and most of the isolates were resistant to ampicillin and trimethoprim/sulfamethoxazole. CONCLUSION: This study demonstrated that rotavirus, E. coli O157:H7 and Campylobacter, which are not routinely screened for in Gaza Strip, were significant enteropathogens. The results highlight the value of using a combination of traditional and PCR techniques in the diagnosis of enteropathogens related to gastroenteritis.


Assuntos
Infecções Bacterianas/epidemiologia , Diarreia/etiologia , Doenças Parasitárias/epidemiologia , Viroses/epidemiologia , Doença Aguda , Pré-Escolar , Diarreia/epidemiologia , Diarreia/microbiologia , Diarreia/parasitologia , Diarreia/virologia , Resistência Microbiana a Medicamentos , Estudos Epidemiológicos , Feminino , Humanos , Lactente , Recém-Nascido , Israel/epidemiologia , Masculino , Projetos Piloto , Reação em Cadeia da Polimerase
10.
Int J Infect Dis ; 11(6): 501-7, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17398132

RESUMO

BACKGROUND: Acute gastroenteritis and diarrhea are common and costly problems that cause significant morbidity and mortality in children worldwide. In Palestine, diarrhea is one of the major causes of outpatient visits and hospitalizations. METHODS: To improve knowledge on the etiology of gastroenteritis and diarrhea in our patient population, stool specimens from 150 children under 5 years of age suffering from acute gastroenteritis were investigated for various common bacterial enteropathogens by conventional and molecular techniques. RESULTS: Bacterial enteropathogens were detected in 17.3% of the diarrheal samples. Shigella spp was the most common bacterial pathogen (6.0%), followed by Campylobacter coli/jejuni (4.7%), Escherichia coli O157:H7 (4.7%), and Salmonella spp (2.0%). Shigella and Salmonella isolates were tested for their susceptibility to common antimicrobial agents and most of the Shigella isolates were resistant to ampicillin, trimethoprim/sulfamethoxazole and doxycycline and most of the Salmonella isolates showed resistant to ampicillin, trimethoprim/sulfamethoxazole, doxycycline and nalidixic acid. CONCLUSIONS: The results highlight the value of using a combination of traditional and molecular techniques (PCR) in the diagnosis of bacterial gastroenteritis. Furthermore, this study demonstrated that E. coli O157:H7 and Campylobacter, which are not screened for routinely in the Gaza Strip, were significant enteropathogens.


Assuntos
Bactérias/isolamento & purificação , Infecções Bacterianas/microbiologia , Gastroenterite/microbiologia , Reação em Cadeia da Polimerase , Antibacterianos/farmacologia , Infecções Bacterianas/diagnóstico , Pré-Escolar , Farmacorresistência Bacteriana Múltipla , Gastroenterite/diagnóstico , Humanos , Lactente , Oriente Médio
11.
J Cardiovasc Dis Res ; 3(2): 91-8, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22629024

RESUMO

BACKGROUND: Chronic kidney disease (CKD) is increasingly recognized as a global public health problem. Cardiovascular disease (CVD) is a major cause of mortality in patients with mild-to-moderate CKD and end-stage renal disease. There is accumulating evidence that the increase in CVD burden is present in CKD patients prior to dialysis, due both to conventional risk factors and kidney-specific disease. Detection and initiation of treatment for CVD risk factors at early stages of CKD should be effective in reducing CVD events before as well as after the onset of kidney failure. MATERIALS AND METHODS: The study sample consisted of a total of 112 subjects aged ≤12 years: 60 CKD patients and 52 healthy control individuals. All subjects were investigated for a group of CVD risk factors such as: Hypertension, diabetes, dyslipidemia, physical inactivity, body mass index (BMI), family history of CVD, hypoalbuminemia, albuminuria, anemia, Ca x P product, and inflammation in terms of C-reactive protein (CRP). RESULTS: Patients (40 males and 20 females) were categorized into four CKD stages (2, 3, 4, and 5) where, Stage 4 had the highest frequency, followed by Stages 3, 5 and 2. Evaluation of the patients indicated that they were shorter, had lower weight and had higher systolic and diastolic blood pressure as compared with control subjects. Frequency of physical inactivity among patients was two-fold higher than controls (50% vs. 25%). The patients showed significantly higher levels of cholesterol (163.6±39.8 vs. 141.8±24.2 mg/dL, P<0.0001), triglycerides (145.5±67.1 vs. 82.9±39.8 mg/dL, P<0.0001), low-density lipoprotein (92.6±31.9 vs. 72.5±19 mg/dL, P<0.0001) and albumin/creatinine ratio (1792±3183 vs. 11.1±6.6 mg/g, P<0.0001). Moreover, the patients had lower levels of high-density lipoprotein (41.9±11.0 vs. 52.7±11.7 mg/dL, P<0.0001), hemoglobin (9.8±1.4 vs. 11.9±0.8 g/dL, P<0.0001) and albumin (4.6±0.6 vs. 4.8±0.2 g/dL, P=0.012). The CRP showed higher occurrence among patients (40% were positive for CRP). Calcium and phosphorus evaluation showed significantly lower calcium and higher phosphorus among patients. However, the difference in Ca X P product was not statistically significant. CONCLUSIONS: The study indicates that many of the CVD risk factors are associated with the different stages of CKD in children patients prior to dialysis, and that some of these factors are exacerbated as CKD progresses.

12.
J Cardiovasc Dis Res ; 2(1): 29-35, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21716749

RESUMO

BACKGROUND: Apolipoprotein E (ApoE) plays a role in the regulation of lipid metabolism in humans. ApoE, a 229-amino-acid polypeptide, is classified into three major isoforms (E2, E3, and E4) according to the differences in amino acids at positions 112 and 158. In the normal population, ApoE3 isoform is the most prevalent, and ApoE2 or E4 is frequently associated with hyperlipoproteinemia. The objective of this work was to investigate the relationship between ApoE gene polymorphism and coronary heart disease (CHD) in Gaza Strip and investigate the association between serum lipid levels and CHD. MATERIAL AND METHODS: The study population consisted of 137 subjects including 69 CHD cases (45 male, 24 female) and 68 healthy subjects (33 male and 35 female). RESULTS: The ApoE3/E3 genotype was the most common in the control and the CHD groups. ApoE2/E3 and ApoE3/E4 were the next most common genotypes. The frequencies of ApoE alleles in the CHD subjects were 0.826 for E3, 0.137 for E4, and 0.0362 for E2. These frequencies are comparable to those found in the control group which were 0.875 for the E3, 0.073 for E4, and 0.0515 for E2. No statistically significant differences in ApoE genotypes were found between the patients and the control groups. Moreover, there was no significant difference between the mean of triglyceride (TG) and HDL levels among different ApoE genotypes. However, there was a significant difference in the mean of LDL and ApoE genotypes where the mean of LDL was 218.17 mg/dl in ApoE4, 149.67 mg/dl in ApoE2, and 184.52 mg/dl in ApoE3. A significant difference was also evident between the mean of LDL levels in the CHD and the control group where the mean of LDL was 126 mg/dl in CHD and 111.47 mg/dl in the control group. Our study indicated that there was no significant difference between the mean of cholesterol and TG levels of the CHD and the control groups. CONCLUSIONS: To our knowledge, this is the first study in Gaza Strip investigating the relation between ApoE genotypes and CHD. Further investigations are needed to link other genetic factors to CHD.

13.
Leg Med (Tokyo) ; 11(4): 203-4, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19364669

RESUMO

Fifteen autosomal STR loci included in the PowerPlex((R))16 System were typed in a population sample of 125 unrelated individuals from Palestinian population of Gaza Strip. Allele frequencies, Hardy-Weinberg equilibrium and forensic parameters were determined for the following loci: Penta E, D18S51, D21S11, TH01, D3S1358, FGA, TPOX, D8S1179, vWA, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818.


Assuntos
Frequência do Gene , Variação Genética , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Humanos , Oriente Médio , Reação em Cadeia da Polimerase
14.
J Exp Clin Assist Reprod ; 6: 7, 2009 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-20485582

RESUMO

Infertility is an extraordinary public health problem in the Arab world, as it affects about 15% of couples seeking children. The male partner is responsible for infertility in approximately half of these cases. Classic microdeletions of the Y-chromosome involving the azoospermia factor (AZF) regions are known to be associated with spermatogenic impairment, and non-obstructive azoospermia must be differentiated on the basis of endocrine evaluation and testicular biopsy. Partial AZFc deletions remain controversial because there is no clear agreement regarding their role in spermatogenic failure. In the current study, 50 fertile males (controls) and 125 patients with primary idiopathic male infertility were studied in order to describe the frequency of Y-chromosome mirodeletions among male infertility patients in the Gaza Strip-Palestine area. No Y chromosome classical microdeletions could be detected in any of the 125 infertile men, suggesting that ethnic factors, genetic background, and Y chromosome haplogroups are key factors in such deletions. On the other hand, six gr/gr and one b1/b3 AZFc partial deletions were detected in the infertile population. The gr/gr deletion was also noted in relatives of four of the six patients with this deletion, and in one of the fertile controls. In conclusion, our study shows that the incidence of Y-chromosome microdeletions in our population is rare; these data suggest that other genetic, epigenetic, nutritional and/or local factors are responsible for impairments in semen parameters observed in this Gazan population. We further hypothesise that the gr/gr deletion is not associated with male infertility, at least in this sub-group.

15.
Int J Infect Dis ; 13(3): 334-41, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-18952476

RESUMO

BACKGROUND: Chlamydia trachomatis is an obligate intracellular bacterium characterized by a biphasic developmental cycle of replication. The organism is recognized as one of the major causes of sexually transmissible human bacterial infection throughout the world. Since there have been no previous studies dealing with chlamydial diagnosis in Palestine, this study was conducted to determine the prevalence of C. trachomatis infection among women attending gynecology and infertility clinics. METHODS: Endocervical swabs were collected from 109 women, aged 18-52 years (median 29 years), attending gynecology and infertility clinics in Gaza. These specimens were processed using molecular (polymerase chain reaction, PCR) and enzyme immunoassay (EIA; IDEIA PCE Chlamydia) techniques. RESULTS: The results obtained show that the overall prevalence rate of C. trachomatis was 20.2%. The sensitivity was 73% for the EIA, 86% for the MOMP (major outer membrane protein gene)-based PCR, and 100% for the plasmid-based PCR. Meanwhile the specificity was 94% for the EIA, 98% for the plasmid-based PCR, and 100% for the MOMP-based PCR. In multivariate analysis, only cervical discharge was significantly associated with positivity for C. trachomatis (adjusted odds ratio 5.6, 95% confidence interval 2.0-15.5; p=0.001). CONCLUSIONS: The study revealed that a significant proportion of Palestinian women expressed evidence of exposure to C. trachomatis. Women with cervicitis are more likely to have been previously infected or exposed to Chlamydia infection. Furthermore, PCR proved to be superior and more efficient in the diagnosis of C. trachomatis than EIA.


Assuntos
Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis , Adolescente , Adulto , Instituições de Assistência Ambulatorial , Chlamydia trachomatis/isolamento & purificação , Feminino , Humanos , Infertilidade Feminina/microbiologia , Pessoa de Meia-Idade , Oriente Médio/epidemiologia , Prevalência , Serviços de Saúde da Mulher , Adulto Jovem
16.
Adv Med Sci ; 53(1): 80-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18614434

RESUMO

PURPOSE: Chlamydia trachomatis and Mycoplasma hominis, Mycoplasma genitalium, and Ureaplasma urealyticum are associated with various diseases of the urogenital tract, but they are usually not detected by routine microbiological diagnosis. To determine the occurrence of Chlamydia trachomatis, Mycoplasma hominis, Mycoplasma genitalium, and Ureaplasma urealyticum in patients with sterile pyuria. MATERIAL/METHODS: Sterile pyuria urine samples collected during the period from February 2006 to April 2007 were tested by polymerase chain reaction (PCR) for the presence of C. trachomatis, M. hominis, M. genitalium, and U. urealyticum using specific primers for each species. A total of 200 sterile pyuria samples selected from about 2400 urine samples attending the genitourinary clinic at Al-Shifa hospital, Gaza, during the period February 2006 to April 2007 and were analyzed for routine urine examination and cultured on MacConkey agar, blood agar, and sabouraud agar to detect the presence of bacteria and Candida. The 200 samples (96 male, 104 female; aged >or=18 years) containing more than 10 leukocytes / HPF and negative for culture (showing no significant growth after 24 hr) were tested by PCR for C. trachomatis and M. hominis, M. genitalium, and U. urealyticum. RESULTS: C. trachomatis was detected in 20 samples (10%), U. urealyticum in 10 samples (5%), M. hominis in 6 samples (3%) and M. genitalium in 2 samples (1%). The difference in occurrence of C. trachomatis was statistically insignificant between males and females (P=0.509), but it was significant (P=0.008) for U. urealyticum. M. hominis was detected only in samples collected from female patients. On the other hand, M. genitalium was detected only in men. CONCLUSION: PCR testing of sterile pyuria showed a significant number of C. trachomatis, Mycoplasma, and Ureaplasma infections. Consequently, PCR is recommended for the detection of those microorganisms in the urine samples of sterile pyuria patients.


Assuntos
Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis/genética , Infecções por Mycoplasma/diagnóstico , Mycoplasma hominis/genética , Infecções por Ureaplasma/diagnóstico , Ureaplasma urealyticum/genética , Adolescente , Adulto , Idoso , Infecções por Chlamydia/microbiologia , Chlamydia trachomatis/isolamento & purificação , Humanos , Pessoa de Meia-Idade , Infecções por Mycoplasma/microbiologia , Mycoplasma genitalium/genética , Mycoplasma genitalium/isolamento & purificação , Mycoplasma hominis/isolamento & purificação , Reação em Cadeia da Polimerase , Infecções por Ureaplasma/microbiologia , Ureaplasma urealyticum/isolamento & purificação , Infecções Urinárias/diagnóstico , Infecções Urinárias/microbiologia
17.
Leuk Lymphoma ; 46(6): 919-23, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16019539

RESUMO

We describe a case of natural killer (NK) cell lymphoma/leukemia with only an interstitial deletion in the short arm of chromosome 12 as the primary event. Fluorescence in situ hybridization revealed that the ETV6 locus (12p13) and subtelomeric sequences are not deleted in the process. The p27/kip1 locus (12p12-13), a candidate tumor suppressor gene, was deleted on the abnormal chromosome. Sequence analysis detected an adenine nucleotide deletion in the third codon of exon 1 leading to frameshift and premature termination at codon 41 of the retained copy of p27/kip1. To the best of our knowledge, this is the first report in literature on a NK cell lymphoma/leukemia with complete loss of p27/kip1.


Assuntos
Inibidor de Quinase Dependente de Ciclina p27/genética , Deleção de Genes , Homozigoto , Células Matadoras Naturais/citologia , Leucemia/genética , Linfoma/genética , Adenina/química , Idoso , Sequência de Aminoácidos , Sequência de Bases , Citogenética , Humanos , Hibridização in Situ Fluorescente , Masculino , Dados de Sequência Molecular
18.
J Egypt Soc Parasitol ; 35(1): 59-68, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15880995

RESUMO

Most physicians in Gaza prescribe medicaments for patient's suffering from Entamoeba histolytica/dispar without parasitologic diagnosis. Additionally, stool analysis performed by the routine methods usually reports the species as E. histolytica without con-firmation. In this study, 92 stool specimens were collected and analyzed by wet mount, iron haematoxylin staining, antigen detection of E. histolytica and polymerase chain reaction (PCR). The total number of E. histolytica identified by PCR was 64 (69.6%) that of E. dispar was 21 (22.8%). Mixed infection with both E. histolytica and E. dispar was evident in 7 specimens (7.6%). In the light of these results approximately 30% of suspected clinical amoebiasis cases were negative for E. histolytica. It is recommended to use PCR for diagnosis of stool specimens from patients with E. histolytica/dispar and that treatment should be prescribed for only patients positive for E.


Assuntos
Entamoeba histolytica/isolamento & purificação , Entamoeba/isolamento & purificação , Entamebíase/epidemiologia , Ensaio de Imunoadsorção Enzimática/métodos , Reação em Cadeia da Polimerase/métodos , Animais , Antígenos de Protozoários/imunologia , Criança , Diagnóstico Diferencial , Egito/epidemiologia , Entamoeba/classificação , Entamoeba histolytica/classificação , Entamebíase/diagnóstico , Fezes/parasitologia , Humanos , Sensibilidade e Especificidade , Especificidade da Espécie
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