4 research outputs found

    Ring chromosome 15 presenting as short stature, intellectual disability and café-au-lait spots

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    Ring Chromosome 15 results from loss of genetic material from both ends of chromosome 15 and joining of the ends to form ring. Only 50 cases are reported in literature with none from India. We report a case of 17 years old female approached us for short stature and low intelligence. On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots. Timely recognition and hereditary tendency counselling is required

    Study of COVID-19 Seroprevalence Among Healthcare Workers at Dedicated COVID Hospital in Southern Rajasthan

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    Background: Coronavirus disease 2019 (COVID-19), a pandemic, has affected approximately 90,000 healthcare workers (HCWs) worldwide and 548 HCWs in India with an infection rate of 6%. Seroprevalence studies can provide relevant information which is useful for assessing the level of exposure among hospital personnel, to avoid unnecessary quarantines and for healthcare resource planning. Aims and objectives: Study of COVID-19 seroprevalence, clinical profile and outcomes among HCWs working at a dedicated COVID hospital in southern Rajasthan. Material and methods: It was a cross-sectional study conducted among 100 HCWs posted in various wards of dedicated COVID hospital at the RNT Medical College, Udaipur, Rajasthan, India, over a period of 2 months from April 2020 to May 2020. Results: Out of 100 HCWs, 68% were male and 32% were female with mean age 31.90 years and 16% had seropositive response. Majority, i.e., 81% seropositive HCWs were asymptomatic and all had good outcome (discharged). Conclusion: It is advisable that this high-risk population of HCWs should follow infection prevention and control (IPC) protocol as well as institutional quarantine protocol, screening and training at timely interval to protect themselves

    Ring chromosome 15 presenting as short stature, intellectual disability and caf and eacute;-au-lait spots

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    Ring Chromosome 15 results from loss of genetic material from both ends of chromosome 15 and joining of the ends to form ring. Only 50 cases are reported in literature with none from India. We report a case of 17 years old female approached us for short stature and low intelligence. On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots. Timely recognition and hereditary tendency counselling is required
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