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Infertility is a serious problem of not being able to conceive despite regular intercourse for more than a year. Natural conception is seen to be achieved in 80%–85% of couples. About 15% of couples suffer infertility with male factor contributing to almost 50% of cases. Paradoxically, on traditional assessment, the underlying etiology of male contribution towards infertility remains unrecognized in 30% of the patients and thereby grouped as idiopathic. Diagnostics of male infertility cannot therefore be limited to usual semen analysis only. The spectrum of the recent research encourages the experts in the field to approach the Clinical, Molecular and cytogenetic shades associated with the problem besides secondary factors like life style and environment. Clinical assessment sums the medical history and physical examination of the affected individual. Molecular and cytogenetic analysis help gain new insights in understanding the problem and thereby an advantage for a successful assisted reproductive treatment (ART). Given the cost and burden ART puts in and prior to application of any invasive techniques, understanding precisely the etiology associated with male infertility is essential for the fertility specialist to circumvent inefficient or any unproductive steps in the fertilization process besides helping in counseling patients on their chance of success with the use of reproductive technology.

There is credible evidence that the 1984–Bhopal–methyl isocyanate (MIC)–gas–exposed long-term survivors and their offspring born post-exposure are susceptible to infectious/communicable and non-communicable diseases. Bhopal’s COVID-19 fatality rate suggests that the MIC–gas tragedy survivors are at higher risk, owing to a weakened immune system and co-morbidities. This situation emboldened us to ponder over what we know, what we don’t, and what we should know about their susceptibility to COVID-19. This article aims at answering these three questions that emerge in the minds of public health officials concerning prevention strategies against COVID-19 and health promotion in the Bhopal MIC-affected population (BMAP). Our views and opinions presented in this article will draw attention to prevent and reduce the consequences of COVID-19 in BMAP. From the perspective of COVID-19 prophylaxis, the high-risk individuals from BMAP with co-morbidities need to be identified through a door-to-door visit to the severely gas-affected regions and advised to maintain good respiratory hygiene, regular intake of immune-boosting diet, and follow healthy lifestyle practices.

Objective In mental retardation/intellectual disability, genetic etiologies have been conventionally identified in about 40% of cases and chromosomal aberrations stand as the most prevalent genetic abnormality associated with it. So far, neither the frequency nor the nature of chromosomal abnormalities among patients with syndromic ID in this region of India is clear. Therefore, the present study was designed to identify the most common types of chromosomal abnormalities in syndromic intellectually disabled patients of Kashmir and to compare our results with those of similar studies reported elsewhere. Methods Cytogenetic analysis was carried out on 266 children diagnosed with intellectual disability with syndromic facies.Cytogenetic analysis was performed by using the GTG banding technique. Results Cytogenetic analysis revealed chromosomal abnormalities in 69.17% of the selected cases. Free trisomy 21 was found to be the most common (84.23%) cytogenetic anomaly in these cases. Besides, mosaic trisomy 21 was observed in 9.78% of cases while 3.26% of the cases had trisomy 21 as a robertsonian translocation. Also cases with 47,XY, +21, t(5;19)(q13;q13.3) karyotype, 47,XX, +21, t(11;12)(11q12;12q24.2) karyotype and 47,XY, +21, inv9(p12;q13) karyotype, 46, XY, dup (21q22-qter) karyotype were observed. Conclusion The cytogenetic analysis of intellectual disability cases of the present study reveals trisomy 21 as a major contributor in the syndromic mental retardation cases of Kashmir. Besides, the frequency of free trisomy of chromosome 21 and advanced maternal age in the syndromic cases of our study is much higher as compared to that reported by different studies across India.

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

Trisomy X (47,XXX) is a human sex chromosome aneuploidy in which females have an extra X chromosome, compared to the 46,XX karyotype in typical females. Females with 47,XXX karyotypes have been reported to have varied phenotypic changes that include features like tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure are also few associated findings. However, puberty, sexual development and fertility are usually normal in trisomy X females (Tartaglia et al. 2010). The case presented in this study had two consecutive spontaneous pregnancy losses though she was devoid of any intrauterine malformation as revealed by her ultrasonography report. Her immunological profile was absolutely normal. Apparently, the female was not having any kind of facial deformity or syndromic features. Cytogenetic evaluation of the female revealed 47(XXX) karyotype with del(Xp21→Xpter) which was possibly the only discernible cause of the recurrent spontaneous abortions. Besides, karyotype analysis of the other family members revealed no structural or numerical abnormality of chromosomes. Cytogenetic evaluation of her husband revealed 46,XY karyotype. To our knowledge, till date a triple X female having recurrent spontaneous abortions with del(Xp21→Xpter) has not been reported. Trisomy X is a condition caused by the presence of an extra X chromosome in females. It is the most common chromosomal abnormality in females, occurring with an incidence of approximately 1 in 1000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed (Tartaglia et al. 2010). Marked facial

The glutathione S transferase (GST) family of enzymes plays a vital role in the phase II biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic and polymorphisms in GST genes have been associated with cancer susceptibility and prognosis. GSTP1 is associated with risk of various cancers including bladder cancer. A case control study was conducted to determine the genotype distribution of GSTP1 AG SNP, to elucidate the possible role of this SNP as a risk factor in urinary bladder cancer (UBC) development and to examine its correlation with clinico-pathologic variables inUBC cases.Using the polymerase chain reaction-restriction fragment length polymorphism (PCR- RFLP) approach, we tested the genotype distribution of 180 bladder cancer patients in comparison with 210 cancer-free controls from the same geographical region with matched frequency in age and gender.We did not observe significant genotype differences between the control and bladder cancer patients overall with an odds ratio (OR)=1.23 (p0.05). The rare allele (AG+GG) was found to be present more in cases (28.3%) than in controls (24%), though the association was not significant (p0.05). However, a significant risk of more than 2-fold was found for the variant allele (AG+GG) with smokers in cases as compared to controls (p0.05).Thus, it is evident from our study that GSTP1 SNP is not implicated overall in bladder cancer, but that the rare, valine-related allele is connected with higher susceptibility to bladder cancer in smokers and also males.

A routine chromosome analysis is being used as a starting point for the diagnosis of chromosomal aberrations by conventional karyotyping. This screening is taken up with an aim to evaluate the prevalence of the patients living with different chromosomal aberrations by conventional karyotyping. A total of 462 suspected cases for different chromosomal abnormalities were included and screened between 2011 and 2013 from the different regions of Kashmir (J & K state, India). Out of the 462 patients, abnormal chromosomes as trisomies, monosomies and translocations were found in 82 (17.75 %) of the cases, whereas 380 (82.25 %) were found to be of normal karyotype. Overall frequency of the various chromosomal disorders found in this investigation was as: Down’s syndrome 11.04 % (51 of 462), Turner’s syndrome 4.11 % (19 of 462), Klinefelter’s syndrome 1.95 % (09 of 462), two Robertsonian translocations t (13:14) 0.43 % (02 of 462) and one triple X with Xp deletion were found in 0.22 % (01 of 462) females who had recurrent missed abortions. Further, out of 24 cases of ambiguous genitalia screened, 12 (50 %) were detected either with 46, XX or 46, XY karyotype. In conclusion we found that people with different genetic disorders particularly chromosomal abnormalities do exist in our population. Among these disorders, Down’s syndrome seems to be occurring at a higher frequency which is possibly due to late marriages with higher maternal age. We also found that interrelation marriages (consanguineous marriages) play an important role in the prevalence of these genetic disorders. The study signifies the importance of karyotyping for the confirmation of clinical diagnosis of chromosomal abnormalities.

Objective: To examine factors contributing to variance in functional outcome in first-episode psychosis (FEP) following 1 year of treatment. Method: Naturalistic 1-year follow-up of a FEP cohort (n = 200), from programs in four university centers in Ontario, Canada. Functional recovery was defined by ‘Social and Occupational Functioning Assessment Scale’ (SOFAS) score>60. Regression analysis examined the contribution of independent variables to variance in functional outcome. Results: Twelve-month outcome measures were available for 76.5% of the original cohort. Of these, 70% reported being in school/work and in satisfactory relationships. The functional recovery rate was 51%, compared to 74% attaining symptomatic remission. The greatest contributors to variance in outcome were ongoing symptoms at 6 months and substance abuse comorbidity. Conclusion: After 1 year of treatment, FEP patients show high rates of symptomatic remission and relatively lower rates of functional recovery. Symptoms and substance abuse contribute to variance in outcome.

Clastogen induced chromosome breakage analysis is widely used for the differential diagnosis of Fanconi's anemia. Mitomycin-C (MMC) induced chromosome fragility test was performed on the cultured lymphocytes of 50 children with clinical suspicion of Fanconi's anemia. According to the results of the MMC test, the patients were divided into two subgroups: FA displaying typical sensitivity to MMC and non FA. The present study revealed 7(14%) of examined patients to have a FA cellular phenotype with increased MMC-induced chromosome fragility. The percentage of MMC-induced aberrant cells was increased more than 36 times in FA patients (Mean=67.14%) when compared to non FA patients (Mean=1.82). The number of MMC-induced breaks/cells was more than 09 times higher in FA patients (Mean=2.42 breaks/cell) when compared to non FA patients (Mean=0.25 breaks/cells). Our results indicate that the clastogen induced sensitivity test is a reliable in vitro method for verification of the FA cellular phenotype. The study being the first of its kind from Kashmir (North India) lays the basis for further studies on patients of this region with a clinical suspicion of FA.

The present study was proposed to unveil the incidence and pattern of chromosomal abnormalities in recurrent spontaneous abortion couples of Kashmir, North India. A total of 71 couples within the age group of 24 to 42 years and having history of two or more recurrent spontaneous abortions were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9. The incidence of chromosomal abnormalities in spontaneous abortion couples of this region was found to be 7.75% that include numerical (1.40%) as well as structural (7.75%) chromosomal abnormalities. Both males (2.11%) and females (5.63%) possessed chromosomal aberrations that comprised balanced translocations (4.22%), duplications (0.70%), deletions (0.70%) and inversions (2.11%). Besides, We report three unique balanced translocations viz., t(1;3)(q24.3;p25)(1 case); t(6,16)(p11;q23)(1 case) and t(7;14)(p13;q12)(2 cases). that have not been found elsewhere in the literature. We conclude from the present study that chromosomal alterations do occur as an etiology in the RSA couples of Kashmir and their incidence is consistent with many reports around the world. The precise molecular characterization of the unique breakpoint regions reported in our study could help in identification of new genes involved in recurrent spontaneous abortions. The study being the first of its kind in this part of the world forms the basis for further studies of the couples of this region with recurrent spontaneous abortions.

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The purpose of this study was to demonstrate the efficacy of oral ephedrine in preventing hypotension following subarachnoid block. Two hundred women, ASA physical status I or II, undergoing lower abdominal surgery were randomly divided into two groups (n = 100 each). All patients were given routine oral premedication consisting of diazepam 10 mg and ranitidine 150 mg at bed time and at 90 min before surgery. In addition, Group I patients received ephedrine 30 mg, orally, 30 min before subarachnoid block was administered. Group II received only routine premedication. After starting an iv line and preloading with 10 ml.kg-1 crystalloid, patients were given 0.5% heavy bupivacaine 3.2 to 3.6 ml, depending on body weight, intrathecally. Patients with decreases in blood pressure of 20% were given ephedrine i.v., in increments, in addition to crystalloids. Despite a similar level of block (T3-T4) and i.v. fluids, the total dose of ephedrine supplement in Group I was 4.3 +/- 4.8 mg compared with 11.6 +/- 9.4 mg in Group II (P0.01). Also, 55 patients in Group I required intraoperative inotrope supplement compared with 83 in Group II (P0.01). We conclude that oral ephedrine premedication is a simple and effective way of reducing the incidence of hypotension in patients undergoing lower abdominal surgery under subarachnoid block.

While the possibility of early intervention following the initial onset of psychotic disorders such as schizophrenia is an exciting development, a closer examination of the nature and content, as well as the timing, of treatment is required for this new approach to be successful. Modification and integration of diverse treatments need to be empirically investigated for their potentially greater effectiveness in patients who are, in general, much younger, naive to the mental health system, and possibly capable of full integration into society. Reducing delay in treatment initiation may be complex, may involve adopting early identification strategies, and may pose significant systemic and conceptual challenges. The 2 aspects of early intervention—integration of phase-specific treatments and early case identification—need to go hand in hand to ensure that another opportunity will not be missed in our efforts to improve the outcomes of these most serious of all mental disorders.