Knowledge, attitude and practice towards cervical cancer screening and human papilloma virus vaccine at a tertiary care facility in North India

Background: Cervical cancer continues to be a major health care problem and most common cause of cancer deaths. Many screening methods are available to detect the disease in precancerous stage. Cervical cancer is the only cancer that is preventable with HPV vaccine against the causative agent responsible for this condition. Knowledge and attitude of women determine the likelihood of women undergoing screening procedures and HPV vaccination which will have implications for the future generations. This study was conducted to determine the knowledge, attitude and practice of women towards cervical screening and HPV vaccine.Methods: This is a facility based observational cross-sectional study conducted at Dr. RMLIMS, Lucknow, over a period of 3 months - January 2019 to March 2019. Women attending gynecology OPD were enrolled after verbally consenting for the study and were required to fill a pre-structured questionnaire which was then analyzed and assessed.Results: A total of 368 participants answered the questionnaire. Overall, 154 subjects (41.8%) had adequate knowledge regarding cervical carcinoma risk factors, symptoms, screening for cancer and HPV vaccine. Favorable attitude was seen in 315 (85.5%) participants. Ninety-six participants (26.0%) had ever had a cervical cancer screening and 23 participants (6.2%) had ever received HPV vaccine which was very low. Lack of knowledge and cost factors were the main reasons cited for these low screening and vaccination rates among the participants.Conclusions: The study shows that knowledge was inadequate and screening and vaccination rates were very low in the study population. This highlights the need to educate the community regarding cervical cancer prevention and to make these services readily available at affordable costs to achieve the ultimate goal of elimination of cervical cancer

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Abstract: Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS with intellectual disability, but to date no additional cases of this CMS subtype had been reported. Here, we performed whole exome sequencing (WES) in three additional and unrelated families presenting with CMS and mild intellectual disability to identify the underlying causative gene. The WES analysis revealed the presence of a homozygous c.740G>A; p.(Arg247Gln) missense SLC25A1 variant, the same SLC25A1 variant as identified in the original family with this phenotype. Electron microscopy of muscle from two cases revealed enlarged and accumulated mitochondria. Haplotype analysis performed in two unrelated families suggested that this variant is a result of recurrent mutation and not a founder effect. This suggests that p.(Arg247Gln) is associated with a relatively mild CMS phenotype with subtle mitochondrial abnormalities, while other variants in this gene cause more severe neurometabolic disease. In conclusion, the p.(Arg247Gln) SLC25A1 variant should be considered in patients presenting with a presynaptic CMS phenotype, particularly with accompanying intellectual disability

Cerebral microdialysis

Cerebral microdialysis is one of the latest neuromonitoring modalities introduced to clinical practice. It is a bedside monitor used to assess brain tissue biochemistry. The principle of this technique is closely related to brain metabolism and dialysis. Microdialysis helps monitoring different metabolites related to energy and metabolic cascades (glucose, lactate and pyruvate), amino acids (glutamate) and markers of cell membrane degradation (glycerol). Its role has been established in conditions such as traumatic brain injury, subarachnoid haemorrhage, ischaemic stroke, etc. However, it is yet to be included in routine neuromonitoring as the technique is very expensive, needs technical expertise and the measurement is not continuous with a lag period in-between two readings. Till date, it is mostly used as a research tool, even though it is a very promising technique in certain clinical conditions