Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal-recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory loss. The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E supplementation improves symptoms and prevents the progression of the disease. In this case report, we reviewed the recently updated findings in AVED in regard to the management and present a case of AVED in a 16-year-old boy, who was initially misdiagnosed as FRDA, prior to the genetic test.
Pulmonary artery sarcoma is a rare disease with only a handful of cases reported. It is histologically classified as leiomyosarcoma, spindle cell sarcoma, fibrous histiocytoma or undifferentiated sarcoma. The disease is mostly misdiagnosed as pulmonary thromboembolism and carries a grim prognosis with an average survival of only a few months. Misdiagnosis often results in patients being treated inappropriately and diagnosed in later stages of the disease. This delay in diagnosis can be associated with significant mortality in the setting of an already poor prognosis. Early aggressive surgery targeting complete surgical resection is the standard treatment. Chemotherapy and radiation therapy have been tried with variable outcomes. Given the aggressive nature of pulmonary artery sarcoma, regular post-surgery follow-up is indicated.
Aim. Neuropathic pain affects 7–10% of the population, with most of the patients receiving inadequate and incomplete treatment. Owing to the high financial burden and the poor quality of life of the patients and their caretakers, there is a dire need to address the challenges in diagnosing and treating chronic neuropathic pain. Methods. This literature review was conducted to review novel treatments and related challenges through a systematic search from sources such as PubMed, Google Scholar with the combination of MESH words such as neuropathic pain, management of neuropathic pain. Articles from non-English literature, reports without human subjects, animal studies, and abstracts/posters were excluded. However, human studies and studies published in English were included. Result. This review article discusses novel treatment modalities while acknowledging the challenges medical workers face while encountering neuropathic pain. Despite the recent advances in diagnosis and treatment modalities, several challenges still exist. Hence, there is still a need to explore the various treatment modalities, emphasizing the cause and underlying pathophysiology of neuropathic pain. Conclusion. We recommend integrated multimodal treatment with the current treatment facility, including various medical disciplines. However, a personalized approach would work the best depending on the ’patient’s medical history. Therefore, this article recommends an integrated, cause-specific, cost-effective approach to address this problem of chronic neuropathic pain.
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