Background Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. Case presentation We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. Conclusions As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.
Introduction Gender discrimination (GD) like in all workplaces has been a grievous part of the medical field from the beginning with the surgical side suffering the brunt of it. Objectives To determine the prevalence of gender bias and perceptions of gender disparities affecting the careers of surgeons in a tertiary care hospital in Pakistan and map out both the male and female perspectives on the means for experiencing such discrimination. Materials and methods A single-centered cross-sectional study was conducted at a tertiary care hospital in Pakistan from Dec 2021 to Feb 2022 using convenience sampling. Results The response rate was 32% in our survey. In our analysis, among those who responded in each specialty, 59% agreed to experiencing gender discrimination in General Surgery, 57% in Cardiothoracic Surgery, 54% in Ophthalmology, 30% in Otolaryngology, and 50% in Orthopedic surgery. A greater percentage of female surgeons ‘agreed’ to experiencing GD in comparison to male surgeons in their career (31.25% vs 27.08%). Additionally, our study also concluded that 10.42% of male and 9.38% of female doctors did not experience GD while training. Conclusion Our findings highlight the discriminatory areas for each gender in surgery and conclude that we must view gender as a primary root factor that predetermines and shapes health systems and outcomes. Most of the problems created by discrimination for different age groups were career advancement, OR opportunities, leadership roles, the difference in mentorship, and a lack of respect in the team. Highlights
BackgroundSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which causes coronavirus disease- 2019 (COVID-19), has been a global epidemic in our healthcare system. SARS-CoV-2 primarily affects the respiratory system, but neurological involvement has also been reported, including Guillain–Barré syndrome (GBS) development.Case PresentationA 58-year-old male with known co-morbid hypertension and type 2 diabetes mellitus presented to the emergency room with complaints of worsening shortness of breath, dry cough, and fever for the past 10 days. On day 20 of hospitalization, he developed neurological symptoms after being tested positive for COVID-19. A neuroelectrophysiology study was conducted to evaluate neurological symptoms and suggested that the patient suffers from acute motor-sensory axonal polyneuropathy (AMSAN). CSF analysis showed elevated protein levels that confirmed the diagnosis of GBS. He was subsequently treated with oral prednisolone and IVIG, which improved neurological symptoms.ConclusionEver since the emergence of COVID-19, GBS has surfaced as to its potentially dangerous outcome. Healthcare professionals should be mindful of GBS and should rule it out in anyone having sensory symptoms or weakness during or after a COVID-19 infection. Its early detection and treatment can result in improved clinical outcomes.
Neuroleptic malignant syndrome (NMS) is a life-threatening neurological emergency that has been observed to occur in some patients following the administration of anti-dopaminergic agents or the rapid withdrawal of dopaminergic medications. In this report, the authors present a case of a 51-year-old male patient with a known history of cocaine abuse, who was given quetiapine during his hospitalization. This precipitated an episode of NMS that eventually concluded uneventfully due to quick diagnosis and management. Prompt recognition of the condition is required to reduce significant morbidity and mortality. Ultimately, maintaining vigilance for the clinical features of NMS is crucial for timely diagnosis and intervention.
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