RESUMO
Background: Limited data are available on the epidemiology of breast cancer (BC) in India. Objective: To study the epidemiological characteristics of BC patients attending a tertiary care hospital in National Capital Territory of India. Materials and Methods: A cross-sectional study was conducted and information from 320 women with confirmed BC was collected on a questionnaire for demographic profile, socioeconomic status (SES), reproductive risk factors, and family history of BC. Information on clinical presentation and staging of BC was recorded. Anthropometric assessment for body mass index (BMI) was done. Data were analyzed and presented as mean ± standard deviation and frequency tables. Results: The mean age at diagnosis of BC was 47 ± 10 years. Fifty-three percent of patients were illiterate or only primary school education. About 74% of patients were from urban areas. Only 11% of patients were from upper SES and 26% from lower SES. Forty-seven percent of patients had stage II followed by 36% with stage III BC. About 15% patients had experienced early menarche (<13 years of age) and 15% of women had attained late menopause (>51 years of age). About 42% of patients had <3 children and 15% patients had a family history of BC. About 38% patients were overweight and 21% were obese. Conclusion: Other than the established risk factors, other factors such as lack of education, SES, and higher BMI were present in our study. A higher percentage of women were diagnosed with BC at later stages. There is a need for educating women about BC, self-examination of breast, and screening programs for early detection of BC
RESUMO
Congenital myopathies are a group of genetic disorders characterized by generalised muscle hypotonia and weakness of varying severity. They are distinct entities and do not include muscular dystrophies, metabolic myopathies and mitochondrial disorders. Myotubular myopathy is a rare sub type within this group of disorders. Clinical differentiation of the various types is difficult and requires muscle biopsy with histopathological and immunohistochemical studies for specific diagnosis. Gene studies are a prerequisite for genetic counseling adn prenatal diagnosis. Here presented three cases of X-linked myotubular myopathy in three Indian families where the diagnosis was established by mutation analysis in the MTM1 gene in all, and supported his histopathology in two. All three families had history of previous male neontal deaths with similar complaints. Molecular analysis revealed hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3. Genetic counseling was performed regarding the X-linked inheritance, their 50% risk of recurrence in boys in subsequent pregnancies, and a feasibility of prenatal diagnosis. This is the first report of cases of X-linked Myotubular myopathy from India.