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)

The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). In familial BWS, hypermethylation of ICR1 has been found in association with microdeletion of repetitive DNA motifs within ICR1 that bind the zinc finger protein CTCF; but more recently, ICR1 point mutations were described in BWS pedigrees. We present a case report of two brothers with BWS and prolonged post-pubertal growth resulting in very large stature. A maternally inherited point mutation was identified in ICR1 in both brothers, which altered binding of OCT transcription factors. The same mutation was present on the paternally inherited allele of their unaffected mother. This is a second report of a point mutation causing ICR1 hypermethylation by altering an OCT-binding motif. The atypical growth phenotype of the brothers may be connected to the unusual underlying cause of their BWS. arabic 24 English 118
Rebecca L Poole, Donald J Leith, Louise E Docherty, Mansur Ennuri Moftah Shmela, Christine Gicquel,, Miranda Splitt, I Karen Temple, Deborah J G Mackay(2-2012)

The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects account for approximately 60% of patients. To investigate whether cryptic copy number variations (CNVs) involving only part of one of the two imprinted domains account for 11p15 isolated DNA methylation defects, we designed a single nucleotide polymorphism array covering the whole 11p15 imprinted region and genotyped 185 SRS or BWS cases with loss or gain of DNA methylation at either ICR1 or ICR2. We describe herein novel small gain and loss CNVs in six BWS or SRS patients, including maternally inherited cis-duplications involving only part of one of the two imprinted domains. We also show that ICR2 deletions do not account for BWS with ICR2 loss of methylation and that uniparental isodisomy involving only one of the two imprinted domains is not a mechanism for SRS or BWS. arabic 22 English 137
- Demars, J., S. Rossignol, I. Netchine, K. S. Lee, Mansur Ennuri Moftah Shmela, L. Faivre, J. Weill, S. Odent, S. Azzi, P. Callier, J. Lucas, C. Dubourg, J. Andrieux, Y. Le Bouc, A. El-Osta , C. Gicquel(10-2011)