Search results for: Nozha Chakroun

Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Douad, Leila Keskes, Tarek Rebai

Abstract:

Recurrent pregnancy loss (RPL), classically defined as the occurrence of two or more failed pregnancies, is a serious reproductive problem, in which, chromosomal rearrangements in either carrier are a major cause; mainly the chromosome aneuploidy. This study was conducted to determine the frequency and contribution of X-chromosome aneuploidy in recurrent pregnancy loss. A retrospective study was carried out among 100 couples with more than 2 miscarriages, referred to our genetic counseling. In all the cases the detailed reproductive histories were taken. Chromosomal analysis was performed using RHG banding in peripheral blood. Of a total of 100 couples; 3 patients with a detected X-chromosome aneuploidy were identified with an overall frequency of 3%. Chromosome abnormalities are as below: a Turner syndrome with 45, X/46, XX mosaicism, a 47, XXX, and a Klinefelter syndrome with 46, XY/47, XXY. These data show a high incidence of X-chromosome aneuploidy; mainly with mosaicism; in RPL. Thus, couples with such chromosomal abnormality should be referred to a clinical geneticist with whom the option of pre-implantation genetic diagnosis in subsequent pregnancy should be discussed.

Keywords: aneuploidy, genetic testing, recurrent pregnancy loss, X-chromosome

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Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Daoud, Leila Keskes, Tarek Rebai

Abstract:

Introduction: Recurrent pregnancy loss (RPL) defined as two or more pregnancy losses, is a serious clinical problem. Methylene-tetrahydro-folate-reductase (MTHFR) polymorphisms, commonly the variant C677T is recognized as an inherited thrombophilia which might affect embryonic development and pregnancy success and cause pregnancy complications as RPL. Material and Methods DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of the C677T MTHFR polymorphism among 70 patients (35 couples) with more than 2 fetal losses. Aims and Objective: The aim of this study is to determine the frequency of MTHFR C677T among Tunisian couples with RPL and to critically analyze the available literature on the importance of MTHFR polymorphism testing in the management of RPL. Result and comments: No C677T mutation was detected in the carriers of RPL. This result would be related to sample size and to different criteria (number of abortion), - The association between MTHFR polymorphisms and pregnancy complications has been reported but with controversial results. - A lack of evidence for MTHFR polymorphism testing previously recommended by ACMG (American College of Medical medicine). Our study highlights the importance of screening of MTHFR polymorphism since the real impact of such thrombotic molecular defect on the pregnancy outcome is evident. - Folic supplementation of these patients during pregnancy can prevent such complications and lead to a successful pregnancy outcome.

Keywords: methylenetetrahydrofolate reductase, C677T, recurrent pregnancy loss, genetic testing

Procedia PDF Downloads 274

Authors: Walid Chakroun, Sorour Alotaibi, Nesreen Ghaddar, Kamel Ghali

Abstract:

This study aims at determining the extent to which occupant control of microenvironment influences, improves thermal sensation and comfort, and saves energy in spaces equipped with ceiling personalized ventilation (CPV) system assisted by chair fans (CF) and desk fans (DF) in 2 experiments in a climatic chamber equipped with two-station CPV systems, one that allows control of fan flow rate and the other is set to the fan speed of the selected participant in control. Each experiment included two participants each entering the cooled space from transitional environment at a conventional mixed ventilation (MV) at 24 °C. For CPV diffuser, fresh air was delivered at a rate of 20 Cubic feet per minute (CFM) and a temperature of 16 °C while the recirculated air was delivered at the same temperature but at a flow rate 150 CFM. The macroclimate air of the space was at 26 °C. The full speed flow rates for both the CFs and DFs were at 5 CFM and 20 CFM, respectively. Occupant 1 was allowed to operate the CFs or the DFs at (1/3 of the full speed, 2/3 of the full speed, and the full speed) while occupant 2 had no control on the fan speed and their fan speed was selected by occupant 1. Furthermore, a parametric study was conducted to study the effect of increasing the fresh air flow rate on the occupants’ thermal comfort and whole body sensations. The results showed that most occupants in the CPV+CFs, who did not control the CF flow rate, felt comfortable 6 minutes. The participants, who controlled the CF speeds, felt comfortable in around 24 minutes because they were preoccupied with the CFs. For the DF speed control experiments, most participants who did not control the DFs felt comfortable within the first 8 minutes. Similarly to the CPV+CFs, the participants who controlled the DF flow rates felt comfortable at around 26 minutes. When the CPV system was either supported by CFs or DFs, 93% of participants in both cases reached thermal comfort. Participants in the parametric study felt more comfortable when the fresh air flow rate was low, and felt cold when as the flow rate increased.

Keywords: PMV, thermal comfort, thermal environment, thermal sensation

Procedia PDF Downloads 232