Bogdan Ovidiu Popescu

Bogdan Ovidiu Popescu

Myotonic Dystrophy Type 1 Associating Sensitive Polyneuropathy: a Case Report

Introduction: Myotonic dystrophy (DM) type 1 is a genetic disorder, caused by a trinucleotide CTG repeat expansion in the DMPK gene on chromosome 19. The skeletal muscle is the most severely affected organ, patients clinically presenting weakness and myotonia. Additionally, it may affect other organs, transforming it into a multisystemic disease. The pathophysiological mechanism involves RNA toxicity resulting from the expanded repeat in the mutant DM alleles. Phenotypes of DM1 may be classified as congenital, juvenile, classical or late onset. Case Report: We present the case of a 36-year-old male diagnosed with chronic hepatitis B virus infection 4 years ago, admitted to the Neurology Department for progressive weakness of the distal lower limbs and multiple falls without loss of consciousness due to muscle weakness. Considering the clinical evolution, neurological examination and paraclinical investigations, the patient was diagnosed with myotonic dystrophy type 1 and mild sensitive axonal polyneuropathy of the lower limbs. Conclusion: The diagnosis of DM can be established clinically if the patient has typical manifestations and positive family history. Genetic testing for CTG repeat expansion in the DMPK gene is the gold standard in diagnosing DM1. There is no disease-modifying therapy available for DM yet and management is only symptomatic.

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The Bucharest College of Physicians’ Study on Burnout Amongst Healthcare Professionals in Romania’s Capital City

Since its fi rst description in 1980 by Freudenberger, the phenomenon of burnout has been studied intensively by many scholars in the past decades and stakeholders are getting more and more aware of the problematic burnout poses in the professional fi eld, as well as the healthcare threat it poses. It is well known today that when it comes to the fi eld of healthcare workers, burnout plays a signifi cant role in regards to physicians’ well-being. The Bucharest College of Physicians wanted to evaluate this phenomenon amongst doctors working in Romania’s capital city and launched a survey addressing its’ members. The study revealed a rather high number of physicians suffering from at least one kind of burnout. The numbers were highest in the fi eld of personal and professional burnout – 55% and 52% of respondents respectively. In regards to burnout caused by the nature of their work (working with patients), a still high number of 36% of respondents showed signs of burnout. Participants in the study named the increasing number of bureaucratic tasks as one of the major stressors at the job and suggested that by eliminating some bureaucracy, one could improve their level of stress on the job. The results of the study conducted by the Bucharest College of Physicians fall in line with other studies regarding healthcare workers around the globe. The alarmingly high numbers of burnout cases and increased levels of stress should signal stakeholders in the healthcare system to take action in order to improve physicians’ well-being.

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Primary versus Secondary Central Nervous System Melanoma: a Diagnostic Dilemma and Report of a Case

Malignant melanoma is a cancer of melanocytic origin, typically cutaneous. Despite recent advances, the prognosis is poor. Brain metastases occur in approximately 7-16% of cases and leptomeningeal metastases in 5-7%. Primary central nervous system (CNS) melanoma is rare, accounting for 1% of all melanoma cases and 0.07% of brain tumors. Methods: A 65-year old man presented with haemorrhagic venous infarction of the left temporal lobe, leading to reversible motor aphasia and right-sided hemiparesis. Brain magnetic resonance imaging also revealed peculiar supratentorial cerebral and meningeal lesions suggesting neoplasia or vasculitis. Ancillary tests were unremarkable, a brain biopsy was proposed, but the patient declined. After 1.5 years symptoms recurred and imaging studies found progression of lesions, with necrosis and surrounding vasogenic oedema. The patient finally agreed to a brain biopsy for conclusive diagnosis. Results: Histopathological and immunohistochemical assessment was consistent with malignant pigmented melanoma. There were no suspicious primary lesions, but the patient recounted having had a thoracic skin lump excised some years prior, allegedly benign, yet unavailable for second opinion. Conclusion: In suspicious CNS presentations, histopathological reevaluation of previously excised skin lesions is advised, especially if brain biopsy cannot be performed. Albeit rare, primary CNS melanoma should also be considered.

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Non-dominant Primary Motor Cortex Repetitive Transcranial Magnetic Stimulation for Moderate to Severe Chronic Pain Caused by...

Repetitive transcranial magnetic stimulation (rTMS) is a relatively new therapeutic and diagnostic technique that uses non-invasive neuromodulation and has an excellent safety profile[1]. According to recent EAN guidelines on central neurostimulation in chronic pain conditions there is only week evidence for primary motor cortex rTMS in neuropathic pain[2], while other guidelines on rTMS state a defi nite analgesic effect of high frequency rTMS of the primary motor cortex contra-lateral to pain site in neuropathic pain[3]

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