Fadel A Sharif | Islamic University of Gaza (original) (raw)

Papers by Fadel A Sharif

Research paper thumbnail of Glycodelin (PAEP) gene promoter polymorphism rs760140467 C>T is associated with recurrent pregnancy loss

In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this st... more In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this study was conducted in order to evaluate the relationship between PAEP gene single nucleotide polymorphism (SNP) rs760140467 C>T and recurrent pregnancy loss (RPL) in Palestinian women. A retrospective case-control study was carried out during the period (August 2015 to April 2016). A total of 200 females, 100 RPL patients and 100 control women without previous history of RPL were included in the study. PAEP (rs760140467 C>T) polymorphism was tested by PCR-RFLP. Statistically significant difference existed between RPL cases and controls in terms of the genotypic and allelic distribution of the tested polymorphism. PAEP "T/C" genotype and "T" allele were significantly higher in the RPL group. The study showed, for the first time, that the "C/T" genotype and the "T' allele of the tested polymorphism are strongly associated with RPL in the investigated population. This finding may lead to improved therapeutic approaches for those RPL cases.

Research paper thumbnail of Bacterial utilization of purified Temik

Process Biochemistry, 1995

Research paper thumbnail of Bacterial utilization of purified Temik

Process Biochemistry, Jan 1, 1995

Research paper thumbnail of Dysregulation of micro-RNA contributes to the risk of unexplained recurrent pregnancy loss

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2013

Research paper thumbnail of Beta-fibrinogen (-455 G/A) and Integrin beta-3 (PLA1/A2) polymorphisms and recurrent pregnancy loss in Gaza strip-Palestine

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2014

Research paper thumbnail of Familial reciprocal translocation t(8;17)(p23;q21) in a woman with recurrent spontaneous abortion

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2013

Research paper thumbnail of Screening for Y Chromosome Microdeletion in a Population of Infertile Males in Gaza Strip-Palestine

Journal of Experimental & Clinical Assisted Reproduction

Research paper thumbnail of Anti-mullerian hormone as a predictor of ovarian reserve and ovarian response in IVF women from Gaza strip

Iranian Journal of Reproductive Medicine

Back ground: Careful evaluation of patients and proper treatment with right techniques are essent... more Back ground: Careful evaluation of patients and proper treatment with right techniques are essential for successful outcome of assisted reproduction. To obtain satisfactory results, it is necessary to assess ovarian reserve before planning treatment. Objective: To evaluate anti-mullerian hormone as a predictor of fertility potential in terms of ovarian reserve and ovarian response reflected by antral follicles and mature oocyte counts in response to menotrophin stimulation in in vitro fertilization (IVF) women from Gaza Strip. Materials and Methods: This prospective cohort study consisted of 81 women (mean age 28.7 years) attending IVF at Al-Basma Fertility Center in Gaza City. Blood withdrawal for antimullerian hormone measurement was performed in all the patients and the number of oocytes and embryos were recorded. Results: The total number of retrieved oocytes was inversely associated with age (12.5±4.5, 11.0±5.4 and 6.9±4.7 at age ≤25, 26-35 and >35 years, respectively (F=4.7...

Research paper thumbnail of Entamoeba histolytica or Entamoeba dispar among children in Gaza, Gaza Strip?

Journal of the Egyptian Society of Parasitology

Most physicians in Gaza prescribe medicaments for patient's suffering from Entamoeba histolyt... more 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.

Research paper thumbnail of CYP2C19 genotypes in a population of healthy volunteers and in children with hematological malignancies in Gaza Strip

The Canadian journal of clinical pharmacology = Journal canadien de pharmacologie clinique

Cytochrome P450 2C19 (CYP2C19) participates in the metabolism of many clinically important drugs ... more Cytochrome P450 2C19 (CYP2C19) participates in the metabolism of many clinically important drugs and xenobiotic compounds. Genetic polymorphisms of the CYP2C19 gene are described to have possible effect on drug treatment and increasing susceptibility to carcinogenic substances. The aim of this study was to determine the frequencies of the common polymorphic CYP2C19 alleles (CYP2C19*2 and CYP2C19*3) in Gaza Strip population and to investigate their association with occurrence of childhood hematological malignancies as compared to healthy subjects. The polymorphism of CYP2C19 was analyzed by PCR-RFLP. DNA was extracted from blood samples obtained from 52 previously diagnosed hematological malignancy children and 200 normal subjects. In the patient group the frequencies of CYP2C19*2 and CYP2C19*3 were 9.62% and 0.96%, respectively; while in the control group the respective frequencies were 5.75% and 3%. There is no significant difference between the healthy and the patient groups in te...

Research paper thumbnail of Rotavirus Infection in Infants and Young Children with AcuteGastroenteritis in Gaza, Palestine

Annals of Medicine

To detect rotavirus antigen in infants and young children with acute diarrhea and gastroenteritis... more To detect rotavirus antigen in infants and young children with acute diarrhea and gastroenteritis. Rotavirus is a major cause of gastroenteritis and diarrhea in infants and young children worldwide. Method: Fecal samples from 150 children with ages ranging from 1 month to 5 years, living in Gaza, who presented with acute diarrhea episodes, were analyzed for rotavirus antigen. The analysis was carried out using an immunochromatography-based diagnostic kit (The RotaStick One-Step test, Novamed Ltd, Jerusalem). The study was conducted during the peak diarrheal season (May-August) of the year 2005. Results: Rotavirus was detected in 28 % (42/150) of the fecal specimens examined, and the majority of patients 90% (38/42), who were positive for the virus were 1 to 24 months old, and the infection rate decreased with increasing age. The highest rate of rotavirus antigen detection was observed among the 12 to 24 months age group 41.9%. Children infected with rotavirus were more likely to hav...

Research paper thumbnail of Natural killer cell lymphoma/leukemia with homozygous loss of p27/kip1

Leukemia & Lymphoma, 2005

We describe a case of natural killer (NK) cell lymphoma/leukemia with only an interstitial deleti... more 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.

Research paper thumbnail of A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report

British Journal of Medicine and Medical Research, 2015

This work presents the molecular genetics investigation of a male neonate referred to our genetic... more This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The neonate was born as a "collodion-baby" and he is the product of a maternal first cousin marriage. DNA sequencing of the coding exons of transglutiminase-1 (TGM1) gene revealed a novel missense (c.A1621C) mutation in exon 11. The mutation altered codon 541 from ACC into CCC thus changing the amino acid threonine into proline (p.T541P) and was predicted to be pathogenic. The presence of the mutation in both parents in heterozygous form and in the patient in homozygous form was further confirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) designed specifically for the identified mutation. It is concluded that the T541P mutation is the cause of the congenital ichthyosis in the presented case and the parents were advised to undergo a PGD-IVF for embryo selection prior to their next pregnancy.

Research paper thumbnail of Association between functional polymorphisms of Foxp3 and Interleukin-21 genes with the occurrence of recurrent pregnancy loss in Gaza strip-Palestine

International Journal of Research in Medical Sciences, 2014

Research paper thumbnail of Polymorphisms in NOS3, ACE and PAI-1 Genes and Risk of Spontaneous Recurrent Miscarriage in the Gaza Strip

Medical Principles and Practice, 2010

This study was conducted to investigate the correlation between spontaneous recurrent miscarriage... more 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. 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. 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. 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.

Research paper thumbnail of Calpain-10 Gene Polymorphism in Type 2 Diabetes Mellitus Patients in the Gaza Strip

Medical Principles and Practice, 2010

Research paper thumbnail of Isolation and antibiotic susceptibility of Salmonella and Shigella strains isolated from children in Gaza, Palestine from 1999 to 2006

Journal of Gastroenterology and Hepatology, 2008

Background and Aim: Diarrhea and acute gastroenteritis are among the leading causes of illnesses ... more 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 trimethoprimsulfamethoxazole (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.

Research paper thumbnail of Relationship between ApoE gene polymorphism and coronary heart disease in Gaza Strip

Journal of Cardiovascular Disease Research, 2011

Background: Apolipoprotein E (ApoE) plays a role in the regulation of lipid metabolism in humans.... more 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.

Research paper thumbnail of Risk factors of cardiovascular disease among children with chronic kidney disease in Gaza strip

Journal of Cardiovascular Disease Research, 2012

Background: Chronic kidney disease (CKD) is increasingly recognized as a global public health pro... more 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.

Research paper thumbnail of Prevalence of Chlamydia trachomatis among women attending gynecology and infertility clinics in Gaza, Palestine

International Journal of Infectious Diseases, 2009

Background: Chlamydia trachomatis is an obligate intracellular bacterium characterized by a bipha... more 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 TM PCE Chlamydia) techniques.

Research paper thumbnail of Glycodelin (PAEP) gene promoter polymorphism rs760140467 C>T is associated with recurrent pregnancy loss

In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this st... more In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this study was conducted in order to evaluate the relationship between PAEP gene single nucleotide polymorphism (SNP) rs760140467 C>T and recurrent pregnancy loss (RPL) in Palestinian women. A retrospective case-control study was carried out during the period (August 2015 to April 2016). A total of 200 females, 100 RPL patients and 100 control women without previous history of RPL were included in the study. PAEP (rs760140467 C>T) polymorphism was tested by PCR-RFLP. Statistically significant difference existed between RPL cases and controls in terms of the genotypic and allelic distribution of the tested polymorphism. PAEP "T/C" genotype and "T" allele were significantly higher in the RPL group. The study showed, for the first time, that the "C/T" genotype and the "T' allele of the tested polymorphism are strongly associated with RPL in the investigated population. This finding may lead to improved therapeutic approaches for those RPL cases.

Research paper thumbnail of Bacterial utilization of purified Temik

Process Biochemistry, 1995

Research paper thumbnail of Bacterial utilization of purified Temik

Process Biochemistry, Jan 1, 1995

Research paper thumbnail of Dysregulation of micro-RNA contributes to the risk of unexplained recurrent pregnancy loss

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2013

Research paper thumbnail of Beta-fibrinogen (-455 G/A) and Integrin beta-3 (PLA1/A2) polymorphisms and recurrent pregnancy loss in Gaza strip-Palestine

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2014

Research paper thumbnail of Familial reciprocal translocation t(8;17)(p23;q21) in a woman with recurrent spontaneous abortion

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2013

Research paper thumbnail of Screening for Y Chromosome Microdeletion in a Population of Infertile Males in Gaza Strip-Palestine

Journal of Experimental & Clinical Assisted Reproduction

Research paper thumbnail of Anti-mullerian hormone as a predictor of ovarian reserve and ovarian response in IVF women from Gaza strip

Iranian Journal of Reproductive Medicine

Back ground: Careful evaluation of patients and proper treatment with right techniques are essent... more Back ground: Careful evaluation of patients and proper treatment with right techniques are essential for successful outcome of assisted reproduction. To obtain satisfactory results, it is necessary to assess ovarian reserve before planning treatment. Objective: To evaluate anti-mullerian hormone as a predictor of fertility potential in terms of ovarian reserve and ovarian response reflected by antral follicles and mature oocyte counts in response to menotrophin stimulation in in vitro fertilization (IVF) women from Gaza Strip. Materials and Methods: This prospective cohort study consisted of 81 women (mean age 28.7 years) attending IVF at Al-Basma Fertility Center in Gaza City. Blood withdrawal for antimullerian hormone measurement was performed in all the patients and the number of oocytes and embryos were recorded. Results: The total number of retrieved oocytes was inversely associated with age (12.5±4.5, 11.0±5.4 and 6.9±4.7 at age ≤25, 26-35 and >35 years, respectively (F=4.7...

Research paper thumbnail of Entamoeba histolytica or Entamoeba dispar among children in Gaza, Gaza Strip?

Journal of the Egyptian Society of Parasitology

Most physicians in Gaza prescribe medicaments for patient's suffering from Entamoeba histolyt... more 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.

Research paper thumbnail of CYP2C19 genotypes in a population of healthy volunteers and in children with hematological malignancies in Gaza Strip

The Canadian journal of clinical pharmacology = Journal canadien de pharmacologie clinique

Cytochrome P450 2C19 (CYP2C19) participates in the metabolism of many clinically important drugs ... more Cytochrome P450 2C19 (CYP2C19) participates in the metabolism of many clinically important drugs and xenobiotic compounds. Genetic polymorphisms of the CYP2C19 gene are described to have possible effect on drug treatment and increasing susceptibility to carcinogenic substances. The aim of this study was to determine the frequencies of the common polymorphic CYP2C19 alleles (CYP2C19*2 and CYP2C19*3) in Gaza Strip population and to investigate their association with occurrence of childhood hematological malignancies as compared to healthy subjects. The polymorphism of CYP2C19 was analyzed by PCR-RFLP. DNA was extracted from blood samples obtained from 52 previously diagnosed hematological malignancy children and 200 normal subjects. In the patient group the frequencies of CYP2C19*2 and CYP2C19*3 were 9.62% and 0.96%, respectively; while in the control group the respective frequencies were 5.75% and 3%. There is no significant difference between the healthy and the patient groups in te...

Research paper thumbnail of Rotavirus Infection in Infants and Young Children with AcuteGastroenteritis in Gaza, Palestine

Annals of Medicine

To detect rotavirus antigen in infants and young children with acute diarrhea and gastroenteritis... more To detect rotavirus antigen in infants and young children with acute diarrhea and gastroenteritis. Rotavirus is a major cause of gastroenteritis and diarrhea in infants and young children worldwide. Method: Fecal samples from 150 children with ages ranging from 1 month to 5 years, living in Gaza, who presented with acute diarrhea episodes, were analyzed for rotavirus antigen. The analysis was carried out using an immunochromatography-based diagnostic kit (The RotaStick One-Step test, Novamed Ltd, Jerusalem). The study was conducted during the peak diarrheal season (May-August) of the year 2005. Results: Rotavirus was detected in 28 % (42/150) of the fecal specimens examined, and the majority of patients 90% (38/42), who were positive for the virus were 1 to 24 months old, and the infection rate decreased with increasing age. The highest rate of rotavirus antigen detection was observed among the 12 to 24 months age group 41.9%. Children infected with rotavirus were more likely to hav...

Research paper thumbnail of Natural killer cell lymphoma/leukemia with homozygous loss of p27/kip1

Leukemia & Lymphoma, 2005

We describe a case of natural killer (NK) cell lymphoma/leukemia with only an interstitial deleti... more 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.

Research paper thumbnail of A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report

British Journal of Medicine and Medical Research, 2015

This work presents the molecular genetics investigation of a male neonate referred to our genetic... more This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The neonate was born as a "collodion-baby" and he is the product of a maternal first cousin marriage. DNA sequencing of the coding exons of transglutiminase-1 (TGM1) gene revealed a novel missense (c.A1621C) mutation in exon 11. The mutation altered codon 541 from ACC into CCC thus changing the amino acid threonine into proline (p.T541P) and was predicted to be pathogenic. The presence of the mutation in both parents in heterozygous form and in the patient in homozygous form was further confirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) designed specifically for the identified mutation. It is concluded that the T541P mutation is the cause of the congenital ichthyosis in the presented case and the parents were advised to undergo a PGD-IVF for embryo selection prior to their next pregnancy.

Research paper thumbnail of Association between functional polymorphisms of Foxp3 and Interleukin-21 genes with the occurrence of recurrent pregnancy loss in Gaza strip-Palestine

International Journal of Research in Medical Sciences, 2014

Research paper thumbnail of Polymorphisms in NOS3, ACE and PAI-1 Genes and Risk of Spontaneous Recurrent Miscarriage in the Gaza Strip

Medical Principles and Practice, 2010

This study was conducted to investigate the correlation between spontaneous recurrent miscarriage... more 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. 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. 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. 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.

Research paper thumbnail of Calpain-10 Gene Polymorphism in Type 2 Diabetes Mellitus Patients in the Gaza Strip

Medical Principles and Practice, 2010

Research paper thumbnail of Isolation and antibiotic susceptibility of Salmonella and Shigella strains isolated from children in Gaza, Palestine from 1999 to 2006

Journal of Gastroenterology and Hepatology, 2008

Background and Aim: Diarrhea and acute gastroenteritis are among the leading causes of illnesses ... more 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 trimethoprimsulfamethoxazole (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.

Research paper thumbnail of Relationship between ApoE gene polymorphism and coronary heart disease in Gaza Strip

Journal of Cardiovascular Disease Research, 2011

Background: Apolipoprotein E (ApoE) plays a role in the regulation of lipid metabolism in humans.... more 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.

Research paper thumbnail of Risk factors of cardiovascular disease among children with chronic kidney disease in Gaza strip

Journal of Cardiovascular Disease Research, 2012

Background: Chronic kidney disease (CKD) is increasingly recognized as a global public health pro... more 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.

Research paper thumbnail of Prevalence of Chlamydia trachomatis among women attending gynecology and infertility clinics in Gaza, Palestine

International Journal of Infectious Diseases, 2009

Background: Chlamydia trachomatis is an obligate intracellular bacterium characterized by a bipha... more 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 TM PCE Chlamydia) techniques.