Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family

Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA Decarboxylase) gene, and the disease has an autosomal recessive inheritance. Malonic aciduria is characterized by systemic clinical involvement, including neurologic and digestive symptoms, metabolic acidosis, hypoglycemia, failure to thrive, seizures, developmental delay, and cardiomyopathy. We describe here two index cases belonging to the same family that, despite an identical genotype, present very different clinical pictures. The first case is a boy with neonatal metabolic symptoms, abnormal brain MRI, and dilated cardiomyopathy. The second case, the cousin of the first patient in a consanguineous family, showed later symptoms, mainly with developmental delay. Both patients showed high levels of malonylcarnitine on acylcarnitine profiles and malonic acid on urinary organic acid chromatographies. The same homozygous pathogenic variant was identified, c.346C > T; p. (Gln116*). We also provide a comprehensive literature review of reported cases. A review of the literature yielded 52 cases described since 1984. The most common signs were developmental delay and cardiomyopathy. Increased levels of malonic acid and malonylcarnitine were constant. Presentations ranged from neonatal death to patients surviving past adolescence. These two cases and reported patients in the literature highlight the inter- and intrafamilial variability of malonic aciduria.

EMOTIONAL MODALITIES OF A MODERN TEACHER AND THEIR CORRECTION

In the article the authors analyze the theoretical approaches to the concept of "emotional modality" in the psychological and pedagogical literature; highlight the features of the manifestation of the emotional modalities of the teacher, methods and techniques for correcting the emotional modalities of the teacher. The results of the study on the implementation of the program of correction of emotional modalities of the modern teacher are presented.

Digital transformation in the economics of complexity: the role of predictive models in strategic management

PurposeThis paper aims to investigate the role of predictive models in the learning and decision-making processes of strategic management. The rapid advancement of digitalisation has contributed to increasing the complexity of the worldwide economy and led to various new competitive dynamics.Design/methodology/approachTo achieve this purpose, a literature review has been carried out and a predictive model based on Watson, an IBM supercomputer, is presented as a qualitative process model.FindingsSpecific insights derived from a review of the literature highlight organisations' need to modify their decision- and strategy-making processes, which are increasing in speed and frequency, thus also leading to the formulation of emergent and trigger event strategies based on the identification of conditions that require the revision of all or part of the firm's strategy. Predictive models, acting as filters, transform data into informative knowledge that decision-makers can interpret based on individual domain knowledge.Originality/valueFrom a theoretical point of view, this paper contributes to the field of digital transformation by proposing the economics of complexity as a paradigm through which to observe and study the issue of predictive models in strategic management. Additionally, the authors analyse the phenomenon from a cognitive perspective, defining the new learning dynamics of digital transformation and the social learning cycle triggered by big data and predictive models. From a managerial and policy-making point of view, this suggests the need to re-shape traditional education contents and dynamics and foster skills that are multi-disciplinary, multi-domain, multi-empathic, multi-interaction and multi-communication between people and things.

Pemphigus Vulgaris in a Black Patient: Early Recognition of Disease Saves Lives

There is a well-known shortage of racial diversity in medical textbooks and literature contributing to race-based health care inequalities1. We present the case of a black puertorrican 58-year-old female who developed a painful non-pruritic blistering ulcer in the inner oral mucosa with associated erythema six months prior to the evaluation. She was misdiagnosed on multiple occasions leading to a rapid progression of the disease, and subsequently, her death. Lack of images in medical textbooks and scarce literature describing initial presentation per-skin-tone of Pemphigus Vulgaris (PV) in patients with dark skin color led to misdiagnosis, delay in treatment, and thus, this catastrophic outcome. This case report describes the appearance of PV in patients with dark skin tone and serves as an educational resource by providing images of a rare skin disease in people with dark skin. The purpose of this case report is to fill major gaps in medical literature, highlight the importance of timely recognizing PV in patients with dark skin, and to create awareness among physicians.

Practical utility of mixed methods research in pharmacy practice

Purpose Our aim was to review key methodological concepts and provide a practical guide to employing mixed methods research to enhance pharmacy practice research. Summary Mixed methods research provides multiple organized analytic perspectives to thoroughly investigate complex social and scientific problems in a methodologically rigorous manner. This research design incorporates collection and analysis of both qualitative and quantitative data components to create a thorough understanding of a complex question. The 5 most commonly identified reasons for conducting mixed methods research include triangulation, complementarity, development, initiation, and expansion of results. For research questions that benefit from mixed methods research, we review how to structure the study, including timing, sequencing, and prioritization of methods. Illustrative examples from the literature highlight the utility of this methodology for clinical and operational pharmacy research questions. Conclusion Mixed methods designs can enhance pharmacy research inquiry, provide a means to understand complicated issues, and uncover optimal interventions.

Epidemiological Survey of the Prevalence of HCV and HBV in the Periphery of Lahore City

Both hepatitis C and hepatitis B are part of the major health-related issues all over the globe. Both of these are viral infections that can be disseminated via sexual contact, blood or by the use of blood products, and through methods of intra-familial transmission. Collection of blood samples of factory workers was done aseptically at KBK electronics. Overall, 272 samples of blood were taken of a variety of individuals and economically accessible ELISA (i.e. enzyme linked Immunosorbent Assay) was used to screen the individuals for Hepatitis B surface Antigen (HBsAg) and also for anti- HCV antibodies. The screening test was done as directed by the instructions of the manufacturer. Names, gender and age group date of each person was collected. Overall, 271 examinees were inspected to check the the presence of HCV and/or HBV. The ages of all the examinees ranged from a minimum of 19 years to a maximum of 50 years of age. The complete overall pervasiveness of both HCV and as well as HBV determined as 18.4% (50/271). In contrast to HBV, HCV has a much higher ubiquity i.e. 16.17% (44/271). On the other hand, that of HBV was only 2.2% (6/271). The individuals revealed a higher percentage of positive results in hepatitis C. HBV occurrence in Lahore is much more than its neighboring areas such as Gujrat with only 0.8% prevalence, Sheikhupura with 1.6%, Narowal with 2.1%, and Hafiz Abad with 2.2% prevalence (PMRC, 2007 to 2009). The results from this study and previous literature highlight the pressing need to also conduct such kinds of experiments in even more populations because by doing so, the areas with a stronger occurrence rate of HCV and HBV can be specified and pointed out and then various methods for treating and even precluding both of these infections, can be implemented effectively.

Epidemiological Survey of the Prevalence of HCV and HBV in the Periphery of Lahore City

Both hepatitis C and hepatitis B are part of the major health-related issues all over the globe. Both of these are viral infections that can be disseminated via sexual contact, blood or by the use of blood products, and through methods of intra-familial transmission. Collection of blood samples of factory workers was done aseptically at KBK electronics. Overall, 272 samples of blood were taken of a variety of individuals and economically accessible ELISA (i.e. enzyme linked Immunosorbent Assay) was used to screen the individuals for Hepatitis B surface Antigen (HBsAg) and also for anti- HCV antibodies. The screening test was done as directed by the instructions of the manufacturer. Names, gender and age group date of each person was collected. Overall, 271 examinees were inspected to check the the presence of HCV and/or HBV. The ages of all the examinees ranged from a minimum of 19 years to a maximum of 50 years of age. The complete overall pervasiveness of both HCV and as well as HBV determined as 18.4% (50/271). In contrast to HBV, HCV has a much higher ubiquity i.e. 16.17% (44/271). On the other hand, that of HBV was only 2.2% (6/271). The individuals revealed a higher percentage of positive results in hepatitis C. HBV occurrence in Lahore is much more than its neighboring areas such as Gujrat with only 0.8% prevalence, Sheikhupura with 1.6%, Narowal with 2.1%, and Hafiz Abad with 2.2% prevalence (PMRC, 2007 to 2009). The results from this study and previous literature highlight the pressing need to also conduct such kinds of experiments in even more populations because by doing so, the areas with a stronger occurrence rate of HCV and HBV can be specified and pointed out and then various methods for treating and even precluding both of these infections, can be implemented effectively.

Bleeding cervical varices in pregnancy: A case report and review of the literature

BACKGROUND: Venous varicosities are a relatively common finding during pregnancy. Rarely, varices can arise in the cervix and cause life-threatening maternal hemorrhage. This article offers an example of a patient who was diagnosed with bleeding cervical varices during pregnancy and summarizes the diagnosis and treatment strategies for the 20 other reported cases in the literature. METHODS: A PubMed literature search using the following terms was performed to gather data for the literature review: “bleeding” or “hemorrhage” and “cervical varices” or “cervical varix” or “cervical varicosities” and “pregnancy” or “obstetric” or “maternal.” Individual references cited in each article were also evaluated for inclusion in this review. RESULTS: A 50-year-old gravida 7 para 1 presented at 12 4/7 weeks with vaginal bleeding. Endo-vaginal ultrasound showed enhanced color Doppler signal in the endocervical canal. During a speculum exam, she was found to have active bleeding from ruptured cervical varicosities and required blood and fresh frozen plasma transfusion. Hemostasis was achieved with interrupted suture ligation. A McDonald cerclage was subsequently placed. She continued pregnant until delivery via cesarean section at 37 2/7 weeks. To date, there have only been 20 other reported cases of bleeding cervical varices during pregnancy. CONCLUSIONS: This case report and review of the literature highlight the importance of including bleeding cervical varices in the differential diagnosis of maternal hemorrhage and offer a treatment strategy if cervical varicosities are discovered during pregnancy.

Sludge and transaction costs

Behavioral scientists have begun to research ‘sludge,’ excessive frictions that make it harder for people to do what they want to do. Friction is also an important concept in transaction-cost economics. Nevertheless, sludge has been discussed without explicit referral to transaction costs. Several questions arise from this observation. Is the analogy to friction used differently in both literatures? If so, what are the key differences? If not, should we develop the concept of sludge when the well-established literature on transaction costs already exists? This conceptual article shows that sludge and transaction costs are related, but distinct, concepts, and that the literature on sludge can benefit from incorporating elements from transaction-cost research. For example, we suggest defining sludge as aspects of the choice architecture that lead to the experience of costs, organize sludges using a typology inspired by the transaction-cost literature, highlight specificity, uncertainty, and frequency as important determinants of the ‘sludginess’ of choice architecture, and show that sludge audits can be conducted using methods developed in the transaction-cost literature.

Reactivation of Chagas Disease in a Patient With an Autoimmune Rheumatic Disease: Case Report and Review of the Literature

Reactivation of Chagas disease has been described in immunosuppressed patients, but there is a paucity of literature describing reactivation in patients on immunosuppressive therapies for the treatment of autoimmune rheumatic diseases. We describe a case of Chagas disease reactivation in a woman taking azathioprine and prednisone for limited cutaneous systemic sclerosis (lcSSc). Reactivation manifested as indurated and erythematous cutaneous nodules. Sequencing of a skin biopsy specimen confirmed the diagnosis of Chagas disease. She was treated with benznidazole with clinical improvement in the cutaneous lesions. However, her clinical course was complicated and included disseminated CMV disease and subsequent septic shock due to bacteremia. Our case and review of the literature highlight that screening for Chagas disease should be strongly considered for patients who will undergo immunosuppression for treatment of autoimmune disease if epidemiologically indicated.