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1.
J Obstet Gynaecol India ; 72(Suppl 1): 326-333, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35928060

RESUMO

Objectives: Menstruation is a normal physiological phenomenon, but sometimes the abnormalities and pain associated with it can severely affect the daily routine of women and may create a stressful environment for them. The objective of this study was to conduct a comparative evaluation of the pattern of menstruation, lifestyle and the outlook toward menstruation among undergraduate female medical and nursing students. Methods: It was a descriptive cross-sectional study conducted among the undergraduate medical and nursing students of a tertiary care Institute. A semi-structured questionnaire was used to collect the data. Of the 400 students approached, 188 completed the questionnaire. Results: The mean age of the participants was 21.23 ± 1.47 years. The mean age of menarche was 12.65 ± 1.24 years among the medical students and 13.69 ± 1.38 years among the nursing students (P < 0.05). Overall, the common menstrual abnormalities observed were dysmenorrhea (71.2%) and premenstrual syndrome (70.2%) followed by menstrual irregularity (14.8%). On correlating lifestyle with menstrual abnormalities, no significant association was found. However, the most common reason for college absenteeism in both groups was dysmenorrhea and fear of unexpected heavy bleeding. Conclusion: Despite having a medical background and knowledge about the physiology of menstruation, medical and nursing students do carry certain myths regarding menstruation which are being carried forward in society. Small roleplays in the OPD (Outpatient Department) area and public awareness lectures should be planned. They will not only develop confidence and better understanding among the students but also create social awareness.

2.
Congenit Anom (Kyoto) ; 62(5): 188-197, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35662261

RESUMO

Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss. The concept of NIPT for screening of genetic disorders is continuously evolving over the last two decades and multiple techniques have come up to utilize this in the field of FM. The crucial factor which decides the accuracy of NIPS is cell free fetal DNA (cffDNA) that is present in extremely low fraction (10%-15%) in the maternal plasma. Among the available methods, the next generation sequencing (NGS) is considered as the gold standard. However, the higher cost diminishes its utility in low-resource settings. Droplet digital Polymerase chain reaction (ddPCR), a type of digital PCR is a novel technique that is frugal, equally sensitive, less labor intensive, less time-consuming and plain algorithm dependent method for detecting cffDNA fraction. Considering these impressive attributes of ddPCR, we decided to critically review the existing literature on ddPCR for NIPT whilst highlighting the clinical utility, challenges and its advantages over NGS.


Assuntos
Ácidos Nucleicos Livres , Teste Pré-Natal não Invasivo , Aneuploidia , Ácidos Nucleicos Livres/genética , Feminino , Feto , Testes Genéticos/métodos , Humanos , Reação em Cadeia da Polimerase/métodos , Gravidez , Diagnóstico Pré-Natal/métodos
3.
Int J Appl Basic Med Res ; 11(2): 114-116, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33912434

RESUMO

Mitochondrial fission factor (MFF) gene mutations are rare mitochondrial fission disorders, resulting in autosomal recessive neurological disorders. We here report a rare case of MFF gene mutation running in a family which ultimately turned out to be a variant of unknown significance. A 29-year-old multigravida visited at 18-week gestation for prenatal genetic testing as her previous baby had cerebral palsy and global developmental delay. The exome sequencing of the affected baby revealed defective mitochondrial and peroxisomal fission 2 (AR-617086). On Sanger sequencing, the mother was homozygous and the father heterozygous for the same variant. In the current pregnancy, amniocentesis was done and the fetus was also homozygous for a similar mutation. The couple continued the pregnancy and delivered a healthy baby who had normal milestones at 11 months of age. As far as prenatal diagnostic testing is considered, our case is a real-world scenario, where patient expectations befuddle appropriate decision-making.

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