La croissance fœtale est un processus complexe dépendant de facteurs génétiques, environnementaux, nutritionnels et hormonaux d’origine maternelle, placentaire et fœtale. Le système IGF est l’un des systèmes hormonaux les plus importants pour la régulation de la croissance fœtale et placentaire [1]. Le gène IGF-II est régulé par le phénomène d’empreinte parentale et est exprimé seulement à partir de l’allèle paternel dans la majorité des tissus pendant la vie fœtale. Les gènes soumis à empreinte parentale sont régulés de manière spécifique et sont particulièrement vulnérables aux signaux environnementaux et nutritionnels. La dérégulation d’un groupe de gènes de la région 11p15 soumise à empreinte parentale, incluant le gène IGF-II, est responsable de deux pathologies de croissance fœtale (les syndromes de Silver-Russell, OMIM 180860 et de Wiedemann-Beckwith, OMIM 130650) qui ont une présentation phénotypique opposée. Ces deux syndromes représentent d’excellents modèles de pathologies humaines pour l’étude de la régulation de l’empreinte parentale. arabic 9 English 26
- Demars, J , S. Rossignol, Mansur Ennuri Moftah Shmela, I. Netchine, S. Azzi, A. El-Osta, Y. Le Bouc, C. Gicquel(1-2012)

Background: Patellar luxation (PL) is a common orthopedic affection among farm and pet animals with mostly congenital (environmental and/or genetic) background. Aim: We report here the first observation of lateral PL in Hejazi goats bred in Libya. Methods: Five Hejazi goats aged between 4 months and 2 years with severe hind limb lameness were admitted to Al-Sorouh veterinary clinic in Tripoli during the period from 2016 to 2018. The goats were thoroughly examined clinically and radiographically. Two goats were surgically treated, and the other three cases were not because of either the cost limitation or expected poor prognosis. The surgical intervention involved femoral trochlear sulcoplasty, medial joint capsule imbrication, and tibial tuberosity transposition. Results: The clinical examination showed grade III–IV lateral PL. Radiologically, there were unilateral or bilateral, ventrocaudal, and dorsal PLs. Two cases were referred to surgical correction. One case almost restored the normal movement of stifle joint together with a good general status 1 year postsurgery. However, the surgical treatment was not effective in correcting the luxated patella in the second case. Conclusion: Lateral PL is common among orthopedic affections in Hejazi goats in Libya, and its surgical treatment provided a quite convenient approach. An association between inbreeding and the PL was suggested in those cases. Keywords: Clinical and radiological findings, Hejazi goat breed, Inbreeding, Patellar luxation, Surgical treatment.
Mohamed Hamrouni S. Abushhiwa, Abdulrhman Mohamed Salah Alrtib, Taher N. Elmeshreghi, Mouna Abdunnabi Abdunnabi Abdunnabi, Mansur Ennuri Moftah Shmela, Emad M R Bennour(3-2021)

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)