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Background: A proportion of cases with repeated abortion are caused by chromosomal abnormality in one of the parents. Several studies have been done to determine the role of chromosomal abnormalities in couples with repeated fetal loss in various countries. None of these studies was done in the Arab Peninsula. Material and Methods: Cytogenetic study was done for 193 consecutive Saudi couples who presented with repeated abortion at the King Khalid University Hospital in Riyadh, Saudi Arabia. Results: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. The nature of those abnormalities and their relation to the obstetric history of cases were discussed. Approximately 15%-20% of clinically recognizable pregnancies end in spontaneous abortion. Conclusion1,2 The incidence of chromosomal abnormalities in those abortions is as high as 50%.3 A modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. [4][5][6][7][8] This results from the production of gametes and embryos with unbalanced chromosome sets.9,10 The clinical consequences of such abnormal gametes include sterility, repeated abortions, and giving birth to malformed children. 11,12Several studies have been done in various countries to determine the contribution of chromosome abnormalities in parents with fetal wastage. 13 To our knowledge, no such studies have been done in the Arabian Peninsula. The aim of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of repeated abortions in Saudi Arabia. This should assist physicians in Saudi Arabia and other neighboring countries by increasing their awareness of the frequency of cytogenetic abnormalities in cases with repeated abortions. It also provides figures for comparison with other countries and research centers. Materials and MethodsThis study included all Saudi couples with repeated abortions who were referred for cytogenetic studies between December 1994 and December 1998 at King Khalid University Hospital in Riyadh, Saudi Arabia. All cases were ascertained to have had two or more spontaneous abortions. Couples who were referred because of having previous children with congenital anomalies and abortions were not included in the study. The obstetric history of couples was either recorded on the request form or retrieved from the files of patients.For routine cytogenetic analysis, 0.3 mL of peripheral blood was incubated in complete lymphocyte culture medium (10% fetal bovine serum in RPMI 1640, with 0.15% phytohemagglutinin and 1% Penstrept in 5% CO 2 incubator at 37°C for three days). Metaphases were harvested by adding colcemid for 20 minutes, followed by hypotonic KCl treatment for 5 minutes and fixation, using standard 3:1 methanol-acetic fixative (all the reagents were from GIBCO Life Technologies Ltd., Paisley, Scotland). The high-resolution study was done by synchronization, using methotrexate (10 -7 M...

Polycystic ovary syndrome (PCOS) is a global health concern for women of reproductive age, as 6.5% of women worldwide are affected by this syndrome. PCOS is marked by hyperandrogenism, anovulation, menstrual abnormalities, and polycystic ovaries. Metals such as arsenic, cadmium, lead and mercury are considered to be systemic toxicants/human carcinogens and seem to have devastating effects on humans, even at minimal exposures. One of the probable aetiological factors for PCOS has been identified as oxidative stress. In view of the probable associations among oxidative stress, metal toxicity and PCOS, the present study examined the role of heavy metals in the generation of oxidative stress among females. This prospective study included 106 women (56 women diagnosed with PCOS and 50 women who were not diagnosed with PCOS as control women). There were no significant differences in the sociodemographic characteristics between the two groups except for the irregularity of menses and the presence of acne. The serum As, Cd, Pb, and Hg levels increased and the serum glutathione (GSH) and superoxide dismutase (SOD) levels diminished significantly in the PCOS group compared to the control group at P < 0.001. The SOD levels were negatively correlated with the As and Pb levels at P < 0.05. Additionally, the PCOS group exhibited a strong negative correlation between the GSH and As levels (P < 0.01), GSH and Pb levels (P < 0.05) and GSH and Hg levels (P < 0.01). Furthermore, the As levels were positively correlated with increased levels of Cd, Pb and Hg among PCOS women. Significant positive correlations were observed between Pb and Cd and between Cd and Hg at P < 0.001. The outcome of the study provides clear insight into the role of metal-induced oxidative stress, which plays a vital role in the pathophysiology underlying PCOS and suggests the use of these markers as prognostic tools to reduce the consequences of high-risk exposure to these metals among females.

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Surgically uncontrollable peri-operative obstetric haemorrhage associated with coagulopathy, developed in five women who were managed by emergency caesarean hysterectomy. All women had a morbidly adherent anterior placenta praevia and a previous lower segment caesarean section scar. Conventional medical and surgical therapy to control bleeding from pelvic and abdominal raw surfaces were unsuccessful. Abdomino-pelvic packing was performed with 10-12 dry laparotomy pads applied firmly over bleeding sites. The abdomen was closed after observation of the cessation of bleeding for 5-10 minutes. Following correction of coagulation and haemodynamic disorders relaparotomy for pack removal was performed 34-48 hours later. One patient developed small bowel obstruction on the 5th post-operative day, however, there was no long term gynaecological morbidity in any of the cases. Abdomino-pelvic packing achieved complete haemostasis in all of the five women which we believe may have been impossible using alternative measures.

A light microscopy study was carried out on 48 placentae. Seventeen placentae were obtained from non-diabetic mothers while the other 31 placentae were from both women with controlled diabetes and women who had an abnormality of the glucose tolerance test. All the women delivered at 38-40 weeks of gestation. Placentae from diabetic patients showed immaturity of the villi, hypertrophy of the capillaries and thickening of the basement membrane of the trophoblastic villi (3.2 +/- 0.35 microns) and the amniotic membrane (1.8 +/- 0.3 microns). Focal fibrinoid necrosis, an increase in the number of Hofbauer cells and dilatation of villi capillaries were also commonly observed in placentae from diabetic mothers, and the normal cuboidal cells lining the amniotic membrane tended to become tall columnar (17.6 +/- 6.3 microns) with distally located nuclei. Similar findings were observed in patients who had a potentially abnormal glucose tolerance test, which suggests the possibility of primary lesion in origin. Therefore, control of hyperglycemia may only partially prevent the development of placental abnormalities.

Table of contents O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J. Fornace Jr. O4 A unique integrated system to discern pathogenesis of central nervous system tumors Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M. Abuzenadah O8 International biobanking in the era of precision medicine Jim Vaught O9 Biobank and biodata for clinical and forensic applications Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors Jaudah Al-Maghrabi O11 The CEGMR biobanking unit: achievements, challenges and future plans Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad O12 Phylomedicine of tumors Sudhir Kumar, Sayaka Miura, Karen Gomez O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment Angel Carracedo, Mahmood Rasool O14 From association to causality: translation of GWAS findings for genomic medicine Ahmed Rebai O15 E-GRASP: an interactive database and web application for efficient analysis of disease-associated genetic information Sajjad Karim, Hend F Nour Eldin, Heba Abusamra, Elham M Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar O16 The supercomputer facility “AZIZ” at KAU: utility and future prospects Hossam Faheem O17 New research into the causes of male infertility Ashok Agarwa O18 The Klinefelter syndrome: recent progress in pathophysiology and management Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Adel M. Abuzenadah, Mohammed H. Al-Q...