Background:Recurrent pregnancy loss (RPL) is an obstetric complication that affects couples in their reproductive age. Chromosomal abnormalities, mainly balanced rearrangements, could commonly be present in couples with RPL.Aim:The purpose of this study is to evaluate the contribution of chromosomal abnormalities and balanced reciprocal translocations, in particular occurring in either of the partners, resulting in RPL.Materials and Methods:A retrospective cytogenetic study was carried out on 152 individuals (76 couples) having a history of RPL. The cases were analyzed using G-banding and fluorescence in situ hybridization, wherever necessary.Results:Chromosomal abnormalities were observed in 3.2% of the total RPL cases, of which balanced translocations were observed in 4 (80%) individuals and marker chromosome was detected in 1 (20%) individual. All balanced translocations comprised reciprocal translocations, and no cases of Robertsonian translocations were detected in our study. Among reciprocal translocation carriers, three were male and one was female. Polymorphic variants were noted in 8 (5.3%) individuals.Conclusions:Chromosomal analysis is an important etiological investigation in couples with RPL. Balanced translocations are the most commonly detected chromosomal abnormalities in such couples. Thus, these couples are the best candidates for offering prenatal genetic diagnosis, thereby ensuring a better reproductive outcome.
Introduction: Dentistry is a demanding profession requiring focus, accuracy, and skills. However, with scientific advances, various new advances and types of equipment have developed enhancing the general dental care. It has been reported that chairs intended for right-handed users result in manual uneasiness or discomfort for left-handed dentists. This might constrain the left handers to adjust, thereby leading to decrease in their performance with increased perception of inconvenience.
Background Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in western India and correlate their hormonal profile and sonographic findings with chromosomal reports. Patients and methods Clinical features of 100 patients along with their hormonal profile and sonographic findings were recorded. Karyotyping was done after taking informed consent from the patients. Molecular cytogenetic technique was used to confirm marker chromosomes and ring chromosomes. Results The results revealed 89% of PA with normal female karyotype (46,XX) and 11% with different abnormal karyotypes. Majority of females with normal karyotype were having Mullerian defects and among them most of them were categorized under Rokitansky syndrome. Among the abnormal karyotype constituents, 27.3% numerical abnormalities, all were Turner syndrome; pure and mosaic. Four cases (36.4%) showed male (XY) karyotype. The other four cases (36.4%) showed structural abnormalities, among which three cases showed X-associated structural abnormality and one case showed balanced translocation. Conclusion This study emphasizes the need for cytogenetic analysis as an integral part of the diagnostic protocol in the case of PA for precise identification of chromosomal abnormalities; and for appropriate reproductive management. Early detection of abnormalities is necessary for guidance to reproductive options and genetic counselling.
In 2011, Rwanda led a successful national human papillomavirus vaccine (HPV) campaign, achieving a 93% coverage rate among eligible girls. The success of the campaign has prompted us to explore the facilitators and barriers that led to its effective implementation so that it may inform vaccination rollouts in similar contextual settings. Eighteen key informants central to HPV campaign implementation in Rwanda were identified through a literature review and then were interviewed. The consolidated framework for implementation research (CFIR) informed the identification of a priori codes for our directed content analysis. Furthermore, organizational readiness for change served as a relevant theory to explain the results. The key informants listed various facilitators and barriers to the implementation of the HPV campaign. The most frequently mentioned facilitators belonged to cosmopolitanism, design quality and packaging, and leadership engagement constructs. More specifically, external partnerships, grade-based interventions, and political will were deemed the most representative and integral to the effectiveness of the intervention. Moreover, the key informants listed the barriers surrounding knowledge and beliefs as the most frequent challenges. Misconceptions surrounding the HPV vaccine, including contraceptive rumors, were described as a common deterrent to parents' decisions for their girls to get vaccinated. Overall, there was a clear assessment of the demands and needs for the scale-up of the HPV project, combined with change valence through Rwanda's consistent leadership and commitment to health promotion. The precise assessments and needs were strengthened by endorsement arising from champions, various ministries, the support of community health workers, and partnerships with funders, all of which translated into implementation effectiveness.
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