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The differential diagnosis comprises a wide range of other multisystem disorders, including mitochondrial, glycogen and lysosomal storage disorders, as well as ciliopathies, glycosylation and vesicular trafficking defects. The clinical overlap between the congenital disorders of autophagy and these conditions reflects the multiple roles of the proteins and/or emerging molecular connections between the pathways implicated and suggests an exciting area for future research. Therapy development for congenital disorders of autophagy is still in its infancy but may result in the identification of molecules that target autophagy more specifically than currently available compounds. The close connection with adult-onset neurodegenerative disorders highlights the relevance of research into rare early-onset neurodevelopmental conditions for much more common, age-related human diseases.Purpose HELLP syndrome is a relatively uncommon pregnancy-related condition characterized by hemolysis, elevated liver function tests, and low platelets. It can be accompanied by life-threatening hepatic complications including hepatic infarction, hematoma formation, and hepatic rupture. HELLP syndrome occurs in approximately 0.2% of pregnancies. Major hepatic complications occur in less than 1% of HELLP patients suggesting an incidence of 1/50,000. The pathogenesis is incompletely understood and in particular, it is difficult to understand a disorder with both major thrombotic and bleeding manifestations.Methods Literature review.Results On the basis of reports in the published literature, and our own clinical experience, we suggest that vasospasm is one of the principal drivers with hepatic ischemia, infarction, and hemorrhage as secondary events. It is known that vasoactive substances are released by the failing placenta. Nedisertib We suggest these cause severe vasospasm, most likely affecting the small post-sinusoidal hepatic venules. This leads to patchy or confluent hepatic ischemia and/or necrosis with a resultant increase in circulating liver enzymes. Reperfusion is associated with a fall in platelet count and microvascular hemorrhage if the microvasculature is infarcted. Blood tracks to the subcapsular space causing hematoma formation. If the hematoma ruptures the patient presents with severe abdominal pain, intra-abdominal hemorrhage, and shock.Conclusions We suggest that hepatic and other complications associated with HELLP syndrome including placental abruption, acute renal failure, and posterior reversible encephalopathy syndrome (PRES) may also be due to regional vasospasm.Pattern Matching (PM) is a data analysis method used in qualitative research. This article outlines a step-by-step approach to using PM to analyse qualitative data through the example of the author's experience in its use for a master in medical education dissertation. The recommended twelve tips, outlined as steps to be used sequentially in the PM process are (1) Assess if PM is a suitable technique for you and your research, (2) Consider alternatives, (3) Decide to proceed with PM, (4) Perform literature review, (5) Reflect about your experiences, (6) Define Propositions, (7) Collect your data, (8) Code data, (9) Match data to propositions, (10) Celebrate congruency, (11) Explain discrepancies and, (12) Discuss relevance and utility of findings in your context. PM, when rigorously applied, can increase the internal validity and transferability of qualitative research in medical education. A clear data analysis protocol enhances reliability and dependability of any research.
COVID-19 has resulted in extraordinary adversities. Mandates such as distancing and variations to treatment services were implemented to slow transmission of the virus, but created new challenges for persons with Substance Use Disorder (SUD). To better understand this phenomenon, we surveyed healthcare professionals on how they believe COVID-19 has impacted persons with SUD and what needs to occur to effectively treat this vulnerable population.
Attending physicians, residents, nurses, medical and nursing students, and other healthcare professionals were asked to respond to three open-ended questions related to the impact of COVID-19 on persons with SUD. Two independent coders reviewed the comments utilizing constant comparative analysis to develop themes.
Common themes of concern were found from the respective participants (
 = 205) including lack of access to treatment, feelings of isolation, negative impacts on mental health, and the possibility of relapse. Healthcare strategies to effectively treopment of peer support groups, availability of mental health resources, development of enhanced communication channels between providers and patients, and systematic changes. Conclusion During the COVID-19 pandemic, overdose deaths have dramatically increased. As the short-term and long-term effects of the pandemic become more apparent, swift and comprehensive responses and policies must be enacted. This study provides insight from healthcare providers on the effects of the pandemic for persons with SUD. Many preexisting issues remain unresolved (e.g. stigma and healthcare disparities), and now the pandemic has presented new obstacles as noted by the providers. The findings from this study provide implications for important discussion regarding the development of strategies for substance use treatment and harm reduction.Epigenome editing consists of fusing a predesigned DNA recognition unit to the catalytic domain of a chromatin modifying enzyme leading to the introduction or removal of an epigenetic mark at a specific locus. These platforms enabled the study of the mechanisms and roles of epigenetic changes in several research domains such as those addressing pathogenesis and progression of cancer. Despite the continued efforts required to overcome some limitations, which include specificity, off-target effects, efficacy, and longevity, these tools have been rapidly progressing and improving.Since prostate cancer is characterized by multiple genetic and epigenetic alterations that affect different signalling pathways, epigenetic editing constitutes a promising strategy to hamper cancer progression. Therefore, by modulating chromatin structure through epigenome editing, its conformation might be better understood and events that drive prostate carcinogenesis might be further unveiled.This review describes the different epigenome engineering tools, their mechanisms concerning gene's expression and regulation, highlighting the challenges and opportunities concerning prostate cancer research.
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