Digital Repository for Department of Preventive Medicine

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    Document

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission.

Background Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith–Wiedemann (BWS; MIM 130650) and the Silver–Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor. Methods We investigated whether 11p15 cis-acting sequence variants account for primary DNA methylation defects in patients with SRS and BWS with loss of DNA methylation at ICR1 and ICR2, respectively. Results We identified a 4.5 kb haplotype that, upon maternal transmission, is associated with a risk of ICR2 loss of DNA methylation in patients with BWS. This novel region is located within the second intron of the KCNQ1 gene, 170 kb upstream of the ICR2 imprinting centre and encompasses two CTCF binding sites. We showed that, within the 4.5 kb region, two SNPs (rs11823023 and rs179436) affect CTCF occupancy at DNA motifs flanking the CTCF 20 bp core motif. Conclusions This study shows that genetic variants confer a risk of DNA methylation defect with a parent-of-origin effect and highlights the crucial role of CTCF for the regulation of genomic imprinting of the CDKN1C/KCNQ1 domain. arabic 26 English 132
Julie Demars, Mansur Ennuri Moftah Shmela, Abdul Waheed Khan , Kai Syin Lee, Salah Azzi, Patrice Dehais, Irène Netchine, Sylvie Rossignol, Yves Le Bouc, Assam El-Osta, Christine Gicquel(7-2014)

Health adverse effects of formaldehyde exposure to students and staff in gross anatomy

Formaldehyde is an anxious gas used as a tissue preservative of cadavers in anatomy halls. Therefore, laboratory staff and students are at high risk of different clinical complications due to the continuous exposure to formaldehyde. The present questionnaire-based study evaluates the effects of formaldehyde exposure on veterinary students and staff in the anatomy gross dissection laboratory, University of Tripoli, Libya. A total of 104 students and 6 anatomy staff members completed a questionnaire of 24 questions related to the clinical symptoms observed after formaldehyde exposure and the answers were assessed using a six point (0-5) scale. Students had a high prevalence of nasal itching 78(75%), eyes burning 78(75%), excessive lacrimation 76(73%), eyes redness 60(58%), headache 64(62%) and respiratory distress 61(59%). Smoking and wearing glasses or gloves worsened many symptoms while wearing masks minimized other symptoms and male students were more affected than females. All anatomy staff members (100%) reported nasal itching, burning and congestion, eyes burning and redness, excessive lacrimation, cough and respiratory distress and less than that (83%) suffered from mouth dryness, headache, temporary loss of their ability to recognize the smell of formaldehyde and needed a physician assistance after the exposure to formaldehyde. The repeated exposure to formaldehyde in gross anatomy dissection has harmful effects on both students and staff member and finding alternative preservation methods, such as freezing, would be safer than using the formaldehyde. arabic 12 English 74
Fahima A Alnagar, Mansur Ennuri Moftah Shmela, , Abdulrhman Mohamed Salah Alrtib, , Fathia mahmoud Mohammad Ashour, Amal Omar Elarif Buker, Anwar Mustafa Abdalhadi Abdalmula(10-2015)

Blood profile in normal one humped dromedary (Camelus dromedarius) camel breeds in Libya. Part 1: Determination of biochemical and haematological blood profile

As little is known about the blood profile of camels in Libya, this article is the first of a 4-part series describing the biochemical and haematological blood profile in Libyan camels. Part 1 of these manuscripts determines the values of enzymes, metabolites, electrolytes and haematological indices in the blood of Libyan camels, parts 2-4 evaluates the effects of breed, gender and age respectively on these values. In this study, blood samples were collected from sixty six camels of three different breeds, different ages and with both sex. The blood of the studied camels showed (i) average values of Potassium (K), Calcium (Ca), Magnesium (Mg), Phosphorus (Ph), Haemoglobin (Hb), Packed Cell Volume (PCV) and White Blood Cell (WBC) counts (ii) low values of Sodium (Na), Iron (Fe), total proteins, albumin, globulin, creatinine, cholesterol, triglycerides, Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH), and low serum activity of aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), alkaline phosphatase (ALP), gamma glutamyl transferase (GGT) and amylase (AMS) enzymes and (iii) high values of glucose, urea, Red Blood Cell (RBC) counts, Erythrocyte Sedimentation Rate (ESR) and Mean Corpuscular Haemoglobin Concentration (MCHC). The finding of this study was documented and compared with the findings of similar studies performed elsewhere. arabic 25 English 134
Anwar Mustafa Abdalhadi Abdalmula, Amal Omar Elarif Buker, Fathia mahmoud Mohammad Ashour, Mansur Ennuri Moftah Shmela, , Ismail M Abograra, , Fahima A Alnagar(8-2018)

Blood profile in normal one humped dromedary (Camelus dromedarius) camel breeds in Libya. Part 2: Effect of breed variation on biochemical and haematological blood profile

Abstract As little is known about the blood profile of camels in libya, this article is the second of a 4-part series describing the biochemical and haematological blood profile in Libyan camels. In Part 1 of these manuscripts, the overall blood biochemical and haematological mean values of camels in Libya were determined, parts 2-4 evaluates the effects of breed, gender and age respectively on these values. Blood samples were collected from three camel breeds, namely, Fakhreya, Sirtaweya and Mahari, and the levels of enzymes, metabolites, electrolytes and haematological indices were measured. The blood of the Sirtaweya breed showed (i) higher levels of aspartate aminotransferase (AST), albumin and Phosphorus (Ph), than the other two breeds, (ii) higher levels of lactate dehydrogenase (LDH), amylase (AMS) and total proteins than the Fakhreya breed and (iii) higher levels of glucose, triglycerides, total cholesterol, Very Low Density Lipoprotein (VLDL), Low Density Lipoprotein (LDL), Calcium (Ca), Packed Cell volume (PCV), Mean Corpuscular Volume (MCV) and Albumin/Globulin (A/G) ratio than the Mahari breed. The Fakhreya breed had (i) higher levels of urea, Iron (Fe), Haemoglobin (Hb), Mean Corpuscular Haemoglobin (MCH) and neutrophils number than the other two breeds, (ii) higher levels of glucose, A/G, LDL, Ca, PCV, MCV and monocytes number than the Mahari breed and (iii) higher levels of erythrocyte osmotic fragility, MCH and Mean Corpuscular Hemoglobin Concentration (MCHC) than the Sirtaweya breed. The Mahari breed had (i) higher levels of globulin than the other two breeds, (ii) higher levels of AMS than the Fakhreya breed and (iii) higher levels of erythrocyte osmotic fragility, Erythrocyte Sedimentation Rate (ESR), MCHC than the Sirtaweya breed. The tested blood parameters in the three Libyan breeds in this study were affected by breed variations. arabic 28 English 143
Anwar Mustafa Abdalhadi Abdalmula, F. A. Alnagar, Amal Omar Elarif Buker, Fathia mahmoud Mohammad Ashour, I. M. Abograra , Mansur Ennuri Moftah Shmela(10-2018)

Blood profile in normal one humped dromedary (Camelus dromedarius) camel breeds in Libya. Part 3: Effect of sex variation on biochemical and haematological blood profile

As little is known about the blood profile of camels in Libya, this article is the third of a 4-part series describing the biochemical and haematological blood profile in Libyan camels. In part 1 of these manuscripts, the overall blood biochemical and haematological mean values of camels in Libya were determined, parts 2-4 evaluate the effects of breed, gender and age respectively on these values. Blood samples were collected from 24 male and 42 female apparently healthy camels and the levels of enzymes, metabolites, electrolytes and haematological indices were measured. The blood of the male camels showed higher values of aspartate aminotransferase (AST), Lactate dehydrogenase (LDH), Amylase (AMS), total proteins, globulin and Phosphorus (Ph), than the female camels which showed higher values of glucose, Albumin/Globulin (A/G) ratio, urea, Iron (Fe), Calcium (Ca), Packed Cell volume (PCV), Haemoglobin (Hb), erythrocyte osmotic fragility, Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH), neutrophil and monocyte numbers. This study shows significant sex differences between male and female Libyan camels in many haematological and biochemical analytes. arabic 28 English 141
Anwar Mustafa Abdalhadi Abdalmula, Fathia mahmoud Mohammad Ashour, Mansur Ennuri Moftah Shmela, Fahima A Alnagar, Ismail M Abograra, Amal Omar Elarif Buker(1-2019)

Radiographic Comparison of Carpal Morphometry in Thoroughbred and Standardbred Race horses

Carpal conformation is thought to contribute to the frequency of carpal pathology so non-invasive measurement of carpal morphometry would be useful to identify joints at risk. However, there are scant radiographic morphometrical details for the carpals of Thoroughbred (TB) and Standardbred (SB) racehorses even though these breeds differ in the incidence of carpal damage. This study aimed to identify morphometrical similarities and differences in carpal conformation in TB and SB. Thirty carpal dorsopalmar radiographs (DP) were collected from 15 TB and 15 SB. All DP radiographs were at zero degrees or within the acceptable range of rotation. Twelve carpal radiographic parameters were selected and measured on each radiograph. Statistical analysis found significant differences in four carpal parameters. These parameters revealed that the middle carpal joint in SB was significantly more angled distomedially whereas the radial distal metaphysis showed a greater distolateral inclination in TB. The radiocarpal and the carpometacarpal articulations exhibited common features in the two groups of horses. These carpal traits in TB and SB highlight their potential association with loading distribution and pathology. Measuring carpi from untrained and injured horses is necessary to establish breed specific features for the ideal carpal conformation in each of these breeds.
Aiman Hussein Saleh Oheida, Abdulrhman Mohamed Salah Alrtib, Aiman Abdulghader Salim Shalgum, Mansur Ennuri Moftah Shmela, Mohamed A Marzok, Helen M S Davies(4-2019)
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