Oral Rhabdomyosarcoma: a review

Rhabdomyosarcoma (RMS) is a rare malignant soft tissue neoplasm comprised of cells derived from the primitive mesen¬chyme. About 35% of RMS arises in the head and neck, are are classified as parameningeal and non-parameningeal forms. These are the most common soft tissue sarcoma of the children, adolescents and young adults. Their etiopathogenesis and its molecular relevance have been emphasized. The first line of treatment is radical excision and this is usually supplemented by radiotherapy. It is believed that adjunct combination chemotherapy may greatly improve the prognosis. Inadequately treated tumours grow in an infiltrative manner and recur in a high percentage of cases. Bone does not constitute an effective barrier to the growth of the tumour and bone invasion is a frequent finding in head and neck rhabdomyosarcomas

Transfer or not to transfer? a medical dilemma

Morphological assessment predominantly determines the quality of embryos although, several methods are available for it. Dilemma to transfer arises when clinicians are left with mere poor grade embryos. This case report encompasses a case of 37 years primary infertile female managed with GnRH antagonist cycle for tubal factor infertility. Post ovarian stimulation and ovum pickup, only two 4 celled grade-C embryos were available for transfer. Reluctantly the embryo was transferred, but fortunately resulted in a healthy live intrauterine pregnancy. This case report questions the aptness of the current methods to determine embryo quality and also enlightens whether the ethical or medical conundrum holds true regarding relation between embryo quality and chances of a fruitful pregnancy

Rare cause of unexplained hypertension in an oligomenorrheic adolescent girl with adnexal mass: case report and review of literature

A 17-year-old girl with oligomenorrhoea was detected to have hypertension and right adnexal solid-cystic mass, 6×8 cm on ultrasound. Hormone profile was normal, CA-125 was 132.5 U/mL, other tumour markers were in normal range; though RMI-4 and ROMA index suggested malignancy. Patient underwent exploratory laparotomy, peritoneal wash cytology, right salpingo-oophorectomy, pelvic lymphadenectomy and omental biopsy. Intraoperative frozen-section revealed ovarian steroid cell tumour. Later, steroid cell tumour-not otherwise specified (SCT-NOS) was confirmed on histopathology and immunohistochemistry. When followed three months post-surgery, patient had resumed 30-32 days menstrual-cycle, and she was normotensive without medications. This case is being reported to emphasize that imaging though not recommended for evaluation of PCOS in adolescence; and measuring blood-pressure which is often skipped in young women; proved crucial in this patient

Predictors of oocyte yield in controlled ovarian hyperstimulation IVF/ICSI cycles: a retrospective analysis in a tertiary care centre

Background: The most important predictor of oocyte yield in ART cycles is female age, but other biochemical and ultrasonographic markers done before controlled ovarian stimulation may predict the oocyte yield in women undergoing COS in IVF cycles.Methods: The main aim of the study was to evaluate ovarian reserve markers before COS which can help to individualise treatment protocols to achieve optimal response and minimise risk of complications. It is retrospective observational study, 1924 women undergoing COS in IVF/ICSI cycles in tertiary care centre in India, from January 2010 to June 2017 were included. Results: Univariate analysis showed that age, D2FSH, AMH, D2AFC and E2 on the day of trigger were significant predictors of oocyte yield (p7.82 IU/ml was predictor of poor response (sensitivity 78.13%, specificity 79.53%).Conclusions: A combination of predictors demonstrated superior ability of predicting oocyte yield after controlled ovarian stimulation than compared with any single endocrine marker. D2 FSH though thought to be obsolete, but we found significant predictive ability in terms of oocyte yield in the Indian population

A comparative study of serum calcium and magnesium levels in women with pre-eclampsia and normotensive women

Background: Pre-eclampsia is transient but potentially dangerous complication of pregnancy. Despite of pre-eclampsia's prevalence and severity, the pathophysiology of this multisystem disorder is still poorly understood and its aetiology has not yet been fully elucidated. Recently, nutritional deficiency especially micronutrients deficiency is gaining prominence in the pathogenesis of pre-eclampsia. Hypocalcaemia and hypomagnesaemia have been implicated in the pathogenesis of pre-eclampsia. This study has been done to compare serum calcium and magnesium levels in women with pre-eclampsia and normotensive women and their association with severity of pre-eclampsia.Methods: 50 women with pre-eclampsia and 50 normotensive women were included in the study and serum calcium and magnesium levels were measured. Data were analyzed.Results: The serum ionic calcium concentration was significantly lower in the pre-eclamptic cases compared to the normotensive controls (3.34±1.35 versus 4.37±0.74, p=0.0000) similarly serum magnesium concentration was significantly lower in the pre-eclamptic cases compared to the normotensive controls (1.68±0.41 versus 1.94±0.42, p-0.002). Mean serum ionic Ca levels in severe pre-eclampsia group was significantly lower than normotensive pregnant women (p=0.0000) as well as mild pre-eclampsia group (p=0.001). Mean serum Mg in severe pre-eclampsia was significantly lower than normotensive pregnant women (p=0.0008) as well as mild pre-eclampsia group (p=0.03). Serum ionic Ca and Mg had a negative correlation with systolic and diastolic blood pressure.Conclusions: Based on this study, measurements of serum ionic calcium and magnesium among women at risk of for pre-eclampsia may be used to predict the onset and severity of pre-eclampsia

An observational study to find association of serum vitamin B12 and folate level with neonatal weight at a tertiary care centre

Background: In developing countries like India, low birth weight is a challenging and important public health problem as it has adverse effect on growth and development of children. Vitamin B12 and folate are micronutrients essential for normal foetal growth and development. Maternal folate and B12 concentrations have been positively associated with birth weight. The aim of this study was to evaluate maternal folate and vitamin B12 status in pregnant women in third trimester of pregnancy and to find their relation with foetal birth weight.Methods: 171 pregnant women in their third trimester with live singleton pregnancy were included in the study. S. vitamin B12 and folate levels were measured and results were analysed.Results: Mean maternal vitamin B12 level in mothers with LBW infants was significantly lower than that of mothers of ABW infants (143.23±91.79 vs 188.8±109.64 respectively p≤0.001) and mean maternal folate level in mothers with LBW infants was lower than that of mothers of ABW infants (8.46±8.94 vs 9.96±12.57 respectively p=0.054). There was a weak positive but statistically significant correlation between baby weight (kg) and S. vitamin B12 (rho=0.24, p=0.002) and S. folate (rho=0.17, p=0.029).Conclusions: The present study confirms that maternal low vitamin B12 level and low S. folate levels are associated with low birth weight so during antenatal visit women should be screened for vitamin B12 and folate deficiency and vitamin supplementation should be continued throughout the pregnancy

A cross-sectional study to evaluate sonographic foetal humerus length for estimation of gestational age in normal singleton pregnancies at a tertiary care centre

Background: Accurate knowledge of gestational age of the foetus is essential for planning a timely and uneventful outcome. Biparietal diameter, head circumference, abdominal circumference and femur length reliably predict gestational age. The humerus length is not widely used as biometric parameter for determining the GA so the present study was done to estimate foetal gestational age by measuring humerus length between 18 to 36 weeks of normal singleton pregnancies and to compare humerus length with routine parameters.Methods: This was a hospital based descriptive cross-sectional study, 200 women with viable singleton pregnancy, with known LMP, between 18 weeks to 36 weeks of gestation were included. Various foetal measurements such as biparietal diameter, head circumference, abdominal circumference, femur length and humerus length were measured using electronic calipers on ultrasound. Data were statistically analyzed.Results: The mean humerus length at 18 weeks was 25.27±1.16 mm and at 36 weeks of gestation was 57.11±1.58 mm. Simple linear regression analysis shows a strongly significant linear relationship between humerus length and gestational age. Where, gestational age (weeks) Y= 0.5213 x humerus length (X) + 4.905; with high degree of correlation coefficient (R2 =0.9785 and P≤0.0001). When Compared with BPD, HC, AC and FL, humerus length also shows a linear correlation.Conclusions: The measurement of the humerus length can be an important additional parameter for estimating gestational age along with other parameters and can be used to predict the gestational age of fetuses in special circumstances

Jaago of Punjab: Tradition and Transition

The paper aims to look at the oral tradition of Jaago of Punjab in its socio-cultural context and how the ceremony coming down since ages, represents the Punjabi communal identity. It is performed by the womenfolk before a wedding takes place. The culture of Punjab is enriched by a number of such traditions and rituals which depict the traditional pattern of life including the changes that have taken place because of constant modernization and urbanization. An attempt is made in this paper to show how the ritual loses its motifs when performed in a different space. The ceremony is still a part of Punjabi Wedding Rituals but has been transformed with the change in time, context and space.

Kinship in Folklore: A Study of Selected Punjabi Folk Songs

The paper is an attempt to find out how folk songs give an insight into the Kinship and familial relationships of people of Punjab describing the psyche of the individual and especially the women.  It also aims at understanding how relationships help in forming socio-cultural rules and limitations. Various social, economical, cultural factors are considered while forming kinship. A study of folksongs is indispensable in understanding the organization of the Punjabi patriarchal family and the stresses and strains inherent in it. This paper would be an attempt to understand kinship through folk songs by throwing light on their structure and cultural importanc

#249 : Spotlight on the Artefacts in Next Generation Sequencing in PGT-A: Possible Reason for High Mosaicism Reporting

Background and Aims: Advancement in Next Generation Sequencing (NGS) has led to the extensive utilization of Preimplantation Genetic testing for Aneuploidy. But one challenge, in reporting of aligned short read sequencing data, is the ability to discriminate between embryonic NGS profiles with genuine pathological copy number variations (CNVs) from artefacts arising from erroneous DNA amplification/library preparation. Do technical errors in VeriSeq-NGS lead to artefacts in CNV charts resulting in falsely increased reporting of chromosomal mosaicism? Method: After ethical clearance and informed consent, patients [Formula: see text] 35 years, [Formula: see text]1 implantation failures and severe male factor infertility underwent PGT-A. Those with aneuploid embryos on TE biopsy, donated their embryos for research in year 2022. The DNA extraction and amplification was carried out using Sureplex-DNA amplification system. The libraries were prepared using VeriSeqTM-PGS Library Preparation kit. A total of 24 libraries were pooled, denatured and subjected to NGS using Illumina MiSeq system. CNV visualization and analysis for each sample was carried out using BlueFuse Multi Software (Illumina, USA). The aneuploid whole blastocyst were subjected to the same protocol. Results: NGS profiles generated from the aneuploid whole blastocysts, were manually analyzed for CNVs and for any common genomic artifacts. The quality control was performed using Illumina-Quality Control requirements and only samples satisfying these requirements were used for analysis in the study. Common artifacts were identified affecting chromosome 7,11,16 and 19. Out of 22 blastocysts, NGS profiles of 21 blastocysts had artifact at chromosome 19, and 15 had artifacts at chromosome 7,11,16. These artifacts may be introduced during whole genome amplification and/or suboptimal NGS library preparation or is inherent weakness of the VeriSeq-NGS kit. Conclusion: The four commonly occurring artefacts involved chromosome 7,11,16 and 19, which could be introduced during steps of whole genome amplification or library preparation. The awareness of these artefacts is important to reduce the false positive/inconclusive rate