Assessment of the Impact of Yoga on the Quality of Life of Breast Cancer Patients: A Systematic Literature Review.

Patients with breast cancer (BC) typically undergo multimodal treatment over an extended period and deal with a wide range of symptoms that severely impair their overall quality of life (QoL) and prognosis. Concern about the health-related QoL of persons diagnosed with cancer as well as the calibre of care they receive is increasing every day. This study aims to assess the impact of yoga on the QoL of patients with BC. PRISMA guidelines served as the foundation for the methodologies used to identify the studies. A total of 480 records were found using PubMed/Medline and Google Scholar databases. A final set of 22 studies was assessed for the work based on the exclusion and inclusion criteria and study eligibility. Yoga has a moderate effect on BC patients. Pranayama has been shown to have a positive effect on improving the QoL. The study observed that yoga was more useful during actual treatment for cancer than after completion. The various randomised controlled trials (RCT) and meta-analysis included in this study believe that yoga has a positive effect. However, the outcomes of various studies do not support this point completely. According to the safety information that is currently available, yoga is not associated with severe adverse outcomes. There is no concrete evidence that establishes the role of yoga as one of the alternative medicines in treating BC patients after chemotherapy. More clinical trials are needed to investigate the advantages of yoga in the overall improvement of QoL in BC patients.

Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions.

Pyoderma gangrenosum (PG) is an uncommon noninfectious neutrophilic dermatosis characterized by recurrent, sterile, necrotic skin ulcers. It is commonly associated with underlying systemic disease like inflammatory bowel disease, rheumatoid arthritis and hematological malignancies. Pathogenesis of PG remains unclear though aberrant immune responses have been implicated. The diagnosis of PG is of exclusion and management is empirical with local or systemic immunosuppressive therapy. LAD-I is a rare form of autosomal recessive disorders caused by mutations of the gene ITGB2, clinically characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing and persistent neutrophilia. Though skin ulcerations are common, predominant clinical presentation as PG is unusual in LAD-I. Here we present four Indian patients with LAD-I from three unrelated families initially diagnosed as PG due to chronic recurrent skin ulcerations requiring steroids and antibiotics for healing, associated with atrophic scar formation. All these four patients had persistent neutrophilia without history of delayed cord separation and showed moderate expression of CD18 (19 to 68%) on neutrophils. Sequencing of the entire coding region and intronic splice sites of the ITGB2 gene from the genomic DNA of these patients revealed a novel common mutation IVS10+4A>G. LAD-I should be kept in mind while evaluating patients with PG especially those with persistent neutrophila in the absence of other rheumatological disorders. Diagnosis of LAD-I in these cases is extremely important for management as treating these patients without adequate antibiotic cover may prove fatal and these patients often require hematopoietic stem cell transplantation for permanent cure.

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.

PURPOSE: Leukocyte adhesion deficiency type-I (LAD-I) is caused by mutations in the ITGB2 gene, encoding the ß2-subunit of ß2-integrin (CD18) which leads to markedly reduced expression of CD18 on leukocytes resulting into recurrent life threatening infections. Here we aim to identify the molecular defects underlying LAD-I in Indian patients and correlate with the clinical presentation. METHODS: Blood was collected from 30 patients and their parents for absolute neutrophil count, expression of CD18 and CD11 by flow cytometry and DNA extraction. PCR and DNA sequencing of the ITGB2 gene was done for mutation characterization. RESULTS: Phenotypically, 22 patients were LAD-I(0), 1 was LAD-I(-) and 7 were LAD-I(+) showing no expression and reduced expression of CD18 respectively. Nine novel mutations in 15 patients and 11 known mutations in 16 patients were detected. Prenatal diagnosis was performed for 5 families. CONCLUSION: In this study 30 patients were phenotypically and genotypically evaluated for a less known disease LAD-I. Unavailability of curative options to majority of the patients and high cost of supportive care emphasize the need to increase awareness about a suspicious case so that timely management can be given to the patient and prenatal diagnosis can be offered to their families.

Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.

OBJECTIVES: Primary Immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of immune system. Immunophenotypic evaluation of PIDs using flowcytometry provides important clues for diagnosis of these disorders, though confirmation requires identification of underlying molecular defects. Prenatal diagnosis (PND) forms an important component of management in families affected with severe PID. However, molecular diagnostic facilities for each of these diseases are not available and may not be possible to perform in all cases. In such scenario we opted for phenotypic prenatal diagnosis by cordocentesis for families with index case having immunophenotypically well characterized PID. METHODS: Normal reference ranges of lymphocyte subsets, CD 18/CD11 integrins on leukocytes, MHC class II expression and oxidative burst activity of fetal neutrophils at 18 weeks of gestation were previously established on 30 cord blood samples. PND was performed in 13 families with PIDs. Maternal contamination was ruled out by VNTR analysis. RESULTS: Out of 13 fetuses, nine were found to be unaffected (three cases with leukocyte adhesion deficiency (LAD-I), four cases with severe combined immunodeficiency diseases (SCID), one with X-linked agammaglobulinemia (XLA), and one with chronic granulomatous disease (CGD)] and three were found to be affected (one with T-B+NK-SCID, one with MHC class II deficiency and one with LAD-I). Diagnosis was confirmed by testing the cord blood samples after delivery and further follow-up of the children. In one family diagnosis could not be offered due to maternal contamination. No procedure related complications were observed. CONCLUSION: Flowcytometry offers rapid and sensitive method for prenatal diagnosis and genetic counseling for selected phenotypically well characterized PID in cases where molecular diagnostic facilities are not available.

Comprehensive report of primary immunodeficiency disorders from a tertiary care center in India.

OBJECTIVES: There is paucity of data on Primary immunodeficiency disorders (PID) from India. Here we describe the frequency of different primary immunodeficiency disorders, their clinical features and disease complications of 159 patients with PID diagnosed in a tertiary care center from India over the last 3 years. METHODS: We retrospectively reviewed the records of all the patients identified to have specific PID from 2008 to 2011. The diagnosed patients were classified according to guidelines of International Union of Immunological Society (IUIS) into eight different sub groups. RESULTS: The distribution pattern was as follows: diseases of immune dysregulation (29 %), phagocytic defects (29 %), predominant antibody deficiency (13 %), combined T and B cell deficiency (19 %) and other well defined diseases (10 %). CONCLUSION: The distribution pattern of PID varied significantly from those reported by western studies. This study highlights the need for development of more advanced facilities for diagnosis and management of PID in India and also the need for establishing population and hospital based registries.

Mitochondrial DNA variations in myelodysplastic syndrome.

There have been significant advances in the understanding of mitochondrial function and their contribution to human disease in the last few years. The myelodysplastic syndromes (MDSs) are heterogeneous group of disorders characterized by clonal proliferation of multipotent hematopoietic cells with ineffective hematopoiesis. They are often associated with evidence of mitochondrial dysfunction. Studies have shown mitochondrial DNA (mtDNA) mutations in different MDS subtypes; however, their pattern and their role in etiopathogenesis and disease progression are not yet clear. This study was undertaken to determine the frequency and spectrum of mutations of mtDNA in patients with MDS from Indian subcontinent. The entire mitochondrial genome was systematically analyzed in 21 patients and 21 age- and sex-matched controls by gene amplification and direct sequencing using 24 overlapping polymerase chain reactions. A total 37 variations were detected in the entire mitochondrial genome. Thirty-three were reported polymorphisms, one was novel polymorphism, also seen in the normal controls, and three were variations (mutations), not seen in normal controls. Three mutations were detected in four patients (20%).These were point mutations scattered over the entire mitochondrial genome including tRNAs, rRNAs, and protein genes. COI and COII are not the only spots in mtDNA where mutation may occur in MDS but tRNA, ND1, ND5, and 16S ribosomal DNA are all vulnerable to such mutations. These mutations seem to be an important component of molecular pathology of MDS. However, its role in severity and disease progression needs to be elucidated.

Coping in Post-Mastectomy Breast Cancer Survivors and Need for Intervention: Systematic Review.

Background: Breast cancer is the most prominent cancer type to affect women. Surgical treatment of invasive breast cancers involves mastectomy. Due to mastectomy, women are subjected to social, emotional, and cultural problems which need to be addressed. Objective: The objective of the study is to understand how women cope with body image-related issues, trauma, anxiety, and depression post-mastectomy. Design: A systematic literature review was conducted for understanding the coping in post-mastectomy patients. The methods for identifying the studies were based on Preferred Reporting Items for Systematic reviews and Meta-analysis (PRISMA) guidelines. Databases: Medline/PubMed, PsycInfo, and Cochrane databases were used for searching relevant articles. A final of 19 studies were analyzed for the work. Methods: Search strings such as "coping strategies and post mastectomy," "body image coping and post mastectomy" and "anxiety coping and post mastectomy" were used for identification of references from databases. Eligibility criteria were used for finalizing the references. Results: Analysis of the 19 studies has clearly shown that women who undergo mastectomy suffer from anxiety, stress, and trauma. This study has observed that women have problems with their body image post-mastectomy along with bouts of depression. Self-coping has been observed in relatively few studies. Psychological interventions before surgery have been observed to be a better coping strategy. In most of the studies, women opted for breast reconstruction to overcome the trauma associated with mastectomy. Conclusion: Mastectomy has a severe impact on women's appearance and psychology. Breast reconstruction and acceptance have played an important role in coping among these women. However, breast reconstruction is not accepted by many women due to a multitude of factors. Thus, it is essential to have proper intervention programs in place to ensure women can cope with this situation and can lead healthy lives. Registration: Systematic literature review (SLR) is submitted to PROSPERO. The application confirmation number is 449135.Registration awaited from the database.

Cobalt-catalyzed alkylation of methyl-substituted N-heteroarenes with primary alcohols: direct access to functionalized N-heteroaromatics.

Phosphine free, air and moisture stable Co(NNN) complex catalyzed alkylation of various methyl-substituted N-heteroarenes with alcohols is reported. Following the borrowing hydrogen methodology, a variety of methyl-substituted N-heteroarenes can be functionalized efficiently. To understand the mechanism of this reaction various kinetic and control experiments were carried out.