Neuropathy has been described in significantly higher proportion of PD patients than in control subjects. This study ascertains the prevelance of neuropathy and its determinants in PD patients, in particular relation with nutritional status, along with impact of neuropathy on Quality of life. Methods: This was a hospital based observational cross-sectional study of PD patients attending the Neurology OPD of a tertiary care hospital. The prevalence and type of neuropathy was determined using the validated MNSI scale. The nutritional status was assessed using MNA score and PDQ-39 was used for assessing quality of life. Patients with and without neuropathy were compared to ascertain risk factors for neuropathy. Results: Twenty-four out of 93 PD patients (26%) had neuropathy and 12 (50%) out of them had painful neuropathy. Older patents and those who had longer duration of disease had higher prevalence of neuropathy. In addition there was significant correlation with malnutrition and neuropathy. 79% of patients with neuropathy had abnormal nutritional status. On comparison of patients with painful neuropathy as compared to those without pain, Vitamin B 12 levels were found to be low only in the former group. Conclusions: Our study shows that there is significant prevalence of neuropathy in PD patents that affects the quality of life of PD patients. Neuropathy in PD is disease dependent and is precipitated by malnutrition. Hence, neuropathy must be timely diagnosed and effective nutritional management may help to improve the patient's quality of life.
A patient with a history of Mandibular hypoplasia, Deafness, Progeroid Features Associated Lipodystrophy Syndrome (MDPL), a familial lipodystrophy presented with hypertriglyceridemia induced pancreatitis with triglycerides in the 3000s. This lipodystrophy occurs due to a mutation in the POLD1 gene (DNA polymerase delta 1).
BACKGROUND The COVID 19 pandemic led to restrictions on the conventional ways of healthcare delivery. Telemedicine provided a viable solution that was in line with the social distancing policies imposed to minimize disease transmission. This demanded physicians adapt to new ways of healthcare delivery. OBJECTIVE We surveyed geneticists across the country to determine their experience and to ascertain if telegenetics will be a lasting change. METHODS A 23 item standardized survey was distributed to various US-based geneticists via email and other social media platforms focusing on their experience of providing care via telemedicine. RESULTS We received 69 responses from physicians across 26 states. Of these, 91% practiced in academia. 70% responded that pediatric genetics takes up more than 50% of their practice. 68% had over 50% of their practice switch to telemedicine. 77% felt they could provide adequate care via telemedicine and 94% of providers would like to continue telemedicine post-pandemic. CONCLUSIONS The future of telemedicine looks promising as the majority of clinicians would like to routinely use telemedicine post-pandemic. Uniform guidelines for use of telemedicine in genetics may need to be proposed by professional societies and supported by federal laws.
A patient with a history of Mandibular hypoplasia, Deafness, Progeroid Features Associated Lipodystrophy Syndrome (MDPL), familial lipodystrophy presented with hypertriglyceridemia induced pancreatitis with triglycerides in the 3000s. This lipodystrophy occurs due to a mutation in the POLD1 gene (DNA polymerase delta 1). MDPL, hypertriglyceridemia, pancreatitis, POLD1.
Introduction - The COVID 19 pandemic led to restrictions on the conventional ways of healthcare delivery. Telemedicine provided a viable solution that was in line with the social distancing policies imposed to minimize disease transmission. This demanded physicians adapt to new ways of healthcare delivery. We surveyed geneticists across the country to determine their experience and to ascertain if telegenetics will be a lasting change. Materials and Methods - A 23 item standardized survey was distributed to various US-based geneticists via email and other social media platforms focusing on their experience of providing care via telemedicine. Results - We received 69 responses from physicians across 26 states. Of these, 91% practiced in academia. 70% responded that pediatric genetics takes up more than 50% of their practice. 68% had over 50% of their practice switch to telemedicine. 77% felt they could provide adequate care via telemedicine and 94% of providers would like to continue telemedicine post-pandemic. Conclusion - The future of telemedicine looks promising as the majority of clinicians would like to routinely use telemedicine post-pandemic. Uniform guidelines for use of telemedicine in genetics may need to be proposed by professional societies and supported by federal laws.
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