Hereditary Angioedema With a Normal Complement Level.

Hereditary angioedema (HAE) is an uncommon autosomal dominant disorder, characterized by episodes of oropharyngeal, gastrointestinal, and subcutaneous tissue swelling, often accompanied by discomfort. HAE is primarily associated with mutations in the SERPING1 gene, resulting in insufficient levels or impaired function of C1 esterase inhibitor (C1-INH), an important regulatory protein of the complement system. While types 1 and 2 HAE are well-established entities caused by quantitative and qualitative defects in C1-INH, respectively, the emergence of type 3 HAE, also known as estrogen-dependent HAE, has expanded our understanding of this complex disorder. In this case, a 2-year-old girl with Down syndrome visited the ER after experiencing lip and tongue swelling following the ingestion of ground pepper. Her laboratory results showed that her complement levels were within normal limits despite clinical symptoms. This situation leads to the specific variant of hereditary angioedema called hereditary angioedema with a normal C1 esterase inhibitor (HAE-NI-C1-INH). Although there are currently no approved treatments, positive responses have been seen to her use of C1-INH concentrate and tranexamic acid to alleviate both immediate and delayed symptoms.

Work alienation influences nurses' readiness for professional development and willingness to learn: A cross-sectional correlation study.

Work alienation has a negative impact on nursing profession and may affect professional nursing development and willingness to learn during the era of coronavirus disease 2019 (COVID-19). The aim of this study was to explore the perceived levels of professional development, willingness to learn, and work alienation during this pandemic among nurses in Jordan. It also assessed the influence of work alienation and sociodemographic factors on readiness for professional development and willingness to learn. We used a cross-sectional correlation study design using the Arabic readiness for professional development and willingness to learn and work alienation scales among 328 nurses working in Jordan University Hospital, Amman-Jordan. Data were collected during the period of October and November 2021. Data were analyzed using descriptive statistics (Mean ± Standard deviation), Pearson correlation coefficient (r), and regression analysis. The perceived levels of work alienation (3.12 ± 1.01) and readiness for professional development and willingness to learn (3.51 ± 0.43) among nurses were found to be at high levels during this era. Work alienation was negatively associated with readiness for professional development and willingness to learn (r = -0.54, p <0.001). The higher educational level of a nurse was found to be associated with a higher work alienation (r = -0.16, p = 0.008). Results indicated that work alienation had a direct influence on readiness for professional development and willingness to learn among nurses (R2 = 0.287, p < 0.001). Work alienation among nurses seems to be increased during the pandemic and it has reduced their readiness for professional development and willingness to learn. Nurse managers at hospitals must assess the perceived level of work alienation among nurses annually and design appropriate counseling interventions programs to reduce their work alienation and increase their willingness to learn.

A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).

A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene.

Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications. Materials and Methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management. Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.

Acute benign pleural effusion, a rare presentation of hepatitis A virus: a case report and review of the literature.

INTRODUCTION: Hepatitis A virus infections are mostly asymptomatic or mildly symptomatic, and generally this disease has a benign course and resolves spontaneously. However, intrahepatic and rarer extrahepatic manifestations can complicate typical cases of acute hepatitis. Pleural effusion is an extremely rare extrahepatic entity with 20 cases reported in literature. CASE PRESENTATION: We report herein a recent case of both pleural effusion and ascites accompanying hepatitis A infection in a 5-year-old middle eastern child, diagnosed using serological testing and imaging studies, who was treated with supportive management with full resolution after 2 weeks. In addition, we review available literature regarding hepatitis A virus associated with pleural effusion using PubMed and summarize all reported cases in a comprehensive table. RESULTS: Literature contains 20 reported cases of serology-confirmed hepatitis A virus presenting with pleural effusion, most in the pediatric population with average age at presentation of 9 years 8 months. The majority of reported patients had right-sided pleural effusion (50%) or bilateral effusion (45%), while only 5% presented with pleural effusion on the left side. Hepatomegaly and ascites occurred concurrently in 80% and 70% respectively. Supportive treatment without invasive procedures (except one chylothorax case) yielded complete recovery in 95% of cases, while only one case progressed to fulminant liver failure followed by death. CONCLUSION: Acute hepatitis A virus rarely presents with pleural effusion, usually following a benign course with spontaneous resolution in most patients. Pleural effusion does not change the prognosis or require any invasive treatment. Thus, further invasive procedures are not recommended and would only complicate this self-resolving benign condition.

Sentiment analysis and its applications in fighting COVID-19 and infectious diseases: A systematic review.

The COVID-19 pandemic caused by the novel coronavirus SARS-CoV-2 occurred unexpectedly in China in December 2019. Tens of millions of confirmed cases and more than hundreds of thousands of confirmed deaths are reported worldwide according to the World Health Organisation. News about the virus is spreading all over social media websites. Consequently, these social media outlets are experiencing and presenting different views, opinions and emotions during various outbreak-related incidents. For computer scientists and researchers, big data are valuable assets for understanding people's sentiments regarding current events, especially those related to the pandemic. Therefore, analysing these sentiments will yield remarkable findings. To the best of our knowledge, previous related studies have focused on one kind of infectious disease. No previous study has examined multiple diseases via sentiment analysis. Accordingly, this research aimed to review and analyse articles about the occurrence of different types of infectious diseases, such as epidemics, pandemics, viruses or outbreaks, during the last 10 years, understand the application of sentiment analysis and obtain the most important literature findings. Articles on related topics were systematically searched in five major databases, namely, ScienceDirect, PubMed, Web of Science, IEEE Xplore and Scopus, from 1 January 2010 to 30 June 2020. These indices were considered sufficiently extensive and reliable to cover our scope of the literature. Articles were selected based on our inclusion and exclusion criteria for the systematic review, with a total of n = 28 articles selected. All these articles were formed into a coherent taxonomy to describe the corresponding current standpoints in the literature in accordance with four main categories: lexicon-based models, machine learning-based models, hybrid-based models and individuals. The obtained articles were categorised into motivations related to disease mitigation, data analysis and challenges faced by researchers with respect to data, social media platforms and community. Other aspects, such as the protocol being followed by the systematic review and demographic statistics of the literature distribution, were included in the review. Interesting patterns were observed in the literature, and the identified articles were grouped accordingly. This study emphasised the current standpoint and opportunities for research in this area and promoted additional efforts towards the understanding of this research field.

Long-Term Mortality and Morbidity Related to Congestive Heart Failure with Reduced Ejection Fraction (CHFrEF) in Palestinian Patients Maintained on Submaximal Sacubitril/Valsartan Doses: A Pilot Study.

BACKGROUND: The efficacy of sacubitril/valsartan, a newly introduced combination drug for heart failure with reduced ejection fraction (HFrEF), was demonstrated in the PARADIGM-HF trial conducted in Western countries. However, these findings need to be verified in the Middle Eastern context, where patients may exhibit a different response due to different environmental and racial factors. OBJECTIVES: The goal of this study was to evaluate the efficacy of submaximal sacubitril/valsartan doses in terms of improving the disease symptoms, as measured by the New York Heart Association (NYHA) classification and left ventricular ejection fraction (LVEF) percentage, as well as establish long-term morbidity and mortality associated with HFrEF among Palestinian patients administered target doses of an angiotensin-converting enzyme inhibitors (ACEI) or angiotensin II receptor blockers (ARBs). Material and Methods. This study involved a retrospective review of charts related to patients with HFrEF maintained on sacubitril/valsartan and was conducted in a referral cardiology clinic in Palestine. The inclusion criteria were age 18+, HFrEF diagnosis, sacubitril/valsartan usage for at least six months during the period between January 1, 2016, and June 30, 2019, and LVEF < 40%. The exclusion criteria included LVEF ≥ 40% and drug administration duration < 6 months. The collected data included NYHA class, as well as LVEF, serum sodium (Na), potassium (K), serum creatinine (Cr), and blood urea nitrogen (BUN) levels and the mortality rate before and after the minimum treatment duration. IBM SPSS STATISTICS for Windows, version 20.0, Armonk, NY: IBM Corp. IBM Corp., released 2012, was used for data analysis, whereby T score was calculated for comparisons between numerical groups, and p < 0.05 was considered statistically significant. RESULTS: The initial study sample comprised of 205 consecutive patients with HFrEF maintained on sacubitril/valsartan for at least six months from January 1, 2016, to June 30, 2019. Three patients were excluded due to attrition, along with further 12 patients with LVEF ≥ 40% (based on the PARADIGM-HF trial criteria). Throughout the treatment period, most patients showed escalating improvement in terms of the LVEF and NYHA classification, as LVEF = 29.8% and NYHA = 3 were obtained on average before initiating sacubitril/valsartan, compared to 41% and 1.7, respectively, after 6-month treatment (p = 0.0003 and 0.046, respectively). These improvements in LVEF and NYHA class were noted across all sacubitril/valsartan doses (50-400 mg). However, 23 patients (12%) died while undergoing sacubitril/valsartan treatment. CONCLUSION: A significant long-term reduction in the mortality and morbidity rates was observed in Palestinian patients with HFrEF maintained on submaximal doses of sacubitril/valsartan.

Familial Mediterranean Fever Complicated by a Triad of Adrenal Crisis: Amyloid Goiter and Cardiac Amyloidosis.

BACKGROUND: FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare reported condition. We presented a previously unreported triad of adrenal, thyroid, and cardiac amyloidosis secondary to FMF. Presentation of Case. We reported a 23-year-old Palestinian male patient presented with hypotension, vomiting, diarrhea, and abdominal pain. The patient was subsequently diagnosed to have an adrenal crisis with both amyloid goiter and cardiac amyloidosis. CONCLUSION: It is crucial to recognize the adrenal crisis in patients with AA amyloidosis secondary to FMF who present similarly to acute FMF inflammatory episodes. The adrenal crisis has high morbidity and mortality, especially if not recognized early in the course of the disease.

MECOM rearrangement involving the MYC locus: Two additional patients with the rare translocation, t(3;8)(q26.2;q24), and molecular review.

A relatively small subset of myeloid neoplasms involve rearrangements of cytoband 3q26.2. Such rearrangements are often in response to therapy and carry a poor prognosis. The ectopic expression of MECOM is the result of such translocations. To date, thirty-three t(3;8)(q26.2;q24) cases have been reported; we contribute two patients with confirmed MECOM and MYC rearrangements. Both patients presented with pancytopenia and were diagnosed with myelodysplastic/myeloproliferative disorders. In addition to translocation t(3;8), Patient 1 possessed a derivative chromosome 5, while Patient 2 possessed monosomy 7; neither patient's clonal abnormalities resolved in follow-up studies. Of the previous 33 cases, one exhibited 5q loss, while monosomy 7 was found in fifteen. These findings contribute to the small number of reported cases with t(3;8) translocations. We also speculate about the molecular mechanisms associated with this translocation.

Congenital arrhinia: A case report and literature review.

INTRODUCTION: Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance. PRESENTATION OF CASE: We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table. DISCUSSION: CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age. CONCLUSION: CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.

Systemic Lupus Erythematosus with Multiple Autoimmune Disease Presented with Extensive Peripheral Gangrene.

Systemic lupus erythematosus (SLE) is an autoimmune disease and can be associated with other autoimmune diseases. SLE usually presents with skin change and rarely presents with gangrene. SLE gangrene usually involves the digits of upper extremities. We report the first case of SLE associated with an extremely rare constellation of neuromyelitis Optica (NMO) and diabetes mellitus type 1, presented with a rare form of the SLE gangrene which involves bilateral lower extremities up to midlegs, a case that has not yet been reported in the literature. Although SLE gangrene may respond to immunosuppressants, it has a high risk of complications that can end up with amputations.

IVIG and under Burn Unit Care Yield Favorable Outcomes in Pediatric Patients with Toxic Epidermal Necrolysis: A Case Report and Literature Review.

Body reactions to drugs can manifest as Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). TEN is the most severe form of cutaneous reactions with an incidence rate of 1-2 per million cases per year. Despite TEN being a critical and life-threatening condition, there is little to no evidence of clear management protocol. We reported a 5-year-old male child who presented with lamotrigine-induced TEN and was successfully treated with intravenous immune globulin (IVIG) with a burn unit care level, while TEN treatment with IVIG is an appropriate approach with predictable good outcomes, burn unit care is also effective in creating highly favorable effects. Upon reviewing the literature, several studies indicate that TEN patients treated with the combination of IVIG and burn unit care lead to decreased levels of morbidity and mortality than when treated with IVIG or burn unit care alone. Therefore, treatment involving both IVIG and burn unit care should be considered for TEN patients.

Postoperative intestinal intussusception in children, an easily missed culprit of postoperative intestinal obstruction: Case series and literature review.

BACKGROUND: Postoperative intestinal intussusception (POI) is a rare cause of intestinal obstruction with POI after surgical reduction of ileocolic intussusception being an extremely rare variant. POI was reported to follow many abdominal and non-abdominal operations. A late diagnosis can risk ischemia and necrosis. POI also increases the morbidity and mortality, rendering an early diagnosis and prompt management as lifesaving. METHODS: We reviewed the medical charts retrospectively for the last ten years for patients with POI at Palestine Red Crescent Society Hospital, Hebron, Palestine. We reviewed the literature and presented the characteristics of the most reported cases of POI following surgical reduction of ileocolic intussusception. RESULTS: We presented three cases of ileoileal POI and one case of ileocolic POI followed different primary operations. All but one patient presented in the first two weeks. The delayed presentation came two months after revision of a prolapsed colostomy. All patients managed successfully with operative manual reduction with no postoperative complications. Initially, we had struggles in the diagnosis of POI largely due to a low suspicion for this rare entity, but thereafter we kept POI in mind and managed the after-coming cases in an expeditious manner. CONCLUSION: Frequently, POI is misdiagnosed as postoperative adhesive obstruction. POI is challenging in diagnosis and needs a very high index of suspicion, mainly due to its rarity and atypical presentation. By keeping the possibility of POI in mind, one can easily diagnose it and prevent its consequences.

Has the implementation of the Minamata convention had an impact on the practice of operative dentistry in Jordan?

OBJECTIVE: To assess Jordanian dentists' current perception and attitudes towards amalgam and composite restorations four years after the Minamata treaty was endorsed and suggest decision making factors that may influence the type of restoration requested by patients. METHODS: The cross-sectional study was conducted through structured questionnaires distributed to dentists in Amman, Jordan from June 2017 to February 2018. RESULTS: Of the 1686 dentists who were contacted 758 dentists (response rate 45%) responded to the questionnaire either by email or via field visits. Jordanian dentists used more composite restorations than amalgam. Recurrent caries followed by fracture of the restoration were the main reasons for replacement of both fillings by dentists. However, dentists suggested that the main reason patients requested replacement of amalgam was for 'staining'. In addition, a large proportion of the dentists had experienced patients who had asked either for replacement of amalgam (77%) or refused an amalgam filling (99%) for aesthetic reasons. In the opinion of the dentists, only 20% patients requested replacement of amalgam because of the mercury content. CONCLUSION: The findings of this survey suggest that a 'phase-down' of dental amalgam is being implemented in Jordan's dental clinics but it is not associated with commitment to the Minamata Convention, rather to current dental practice trends and patients' aesthetic demands.

Embedded systems engineering for products and services design.

Systems engineering (SE) professionals strive to develop new techniques to enhance the value of contributions to multidisciplinary smart product design teams. Products and services designers challenge themselves to search beyond the traditional design concept of addressing the physical, social, and cognitive factors. This paper covers the application of embedded user-centered systems engineering design practices into work processes based on the ISO 13407 framework [20] to support smart systems and services design and development. As practitioners collaborate to investigate alternative smart product designs, they concentrate on creating valuable products which will enhance positive interaction. This paper capitalizes on the need to follow a user-centered SE approach to smart products design [4, 22]. Products and systems intelligence should embrace a positive approach to user-centered design while improving our understanding of usable value-adding, experience and extending our knowledge of what inspires others to design enjoyable services and products.

Applications of agent-based simulation for human socio-cultural behavior modeling.

Agent-based modeling and simulation (ABMS) has gained wide attention over the past few years. ABMS is a powerful simulation modeling technique that has a number of applications, including applications to real-world business problems [1]. This modeling technique has been used by scientists to analyze complex system-level behavior by simulating the system from the bottom up. The major application of ABMS includes social, political, biology, and economic sciences. This paper provides an overview of ABMS applications with the emphasis on modeling human socio-cultural behavior (HSCB).

Economics of human performance and systems total ownership cost.

Financial costs of investing in people is associated with training, acquisition, recruiting, and resolving human errors have a significant impact on increased total ownership costs. These costs can also affect the exaggerate budgets and delayed schedules. The study of human performance economical assessment in the system acquisition process enhances the visibility of hidden cost drivers which support program management informed decisions. This paper presents the literature review of human total ownership cost (HTOC) and cost impacts on overall system performance. Economic value assessment models such as cost benefit analysis, risk-cost tradeoff analysis, expected value of utility function analysis (EV), growth readiness matrix, multi-attribute utility technique, and multi-regressions model were introduced to reflect the HTOC and human performance-technology tradeoffs in terms of the dollar value. The human total ownership regression model introduces to address the influencing human performance cost component measurement. Results from this study will increase understanding of relevant cost drivers in the system acquisition process over the long term.

Visual social network analysis: effective approach to model complex human social, behaviour & culture.

The advent and adoption of internet-based social networking has significantly altered our daily lives. The educational community has taken notice of the positive aspects of social networking such as creation of blogs and to support groups of system designers going through the same challenges and difficulties. This paper introduces a social networking framework for collaborative education, design and modeling of the next generation of smarter products and services. Human behaviour modeling in social networking application aims to ensure that human considerations for learners and designers have a prominent place in the integrated design and development of sustainable, smarter products throughout the total system lifecycle. Social networks blend self-directed learning and prescribed, existing information. The self-directed element creates interest within a learner and the ability to access existing information facilitates its transfer, and eventual retention of knowledge acquired.

Innovation in user-centered skills and performance improvement for sustainable complex service systems.

In order to leverage individual and organizational learning and to remain competitive in current turbulent markets it is important for employees, managers, planners and leaders to perform at high levels over time. Employee competence and skills are extremely important matters in view of the general shortage of talent and the mobility of employees with talent. Two factors emerged to have the greatest impact on the competitiveness of complex service systems: improving managerial and employee's knowledge attainment for skills, and improving the training and development of the workforce. This paper introduces the knowledge-based user-centered service design approach for sustainable skill and performance improvement in education, design and modeling of the next generation of complex service systems. The rest of the paper cover topics in human factors and sustainable business process modeling for the service industry, and illustrates the user-centered service system development cycle with the integration of systems engineering concepts in service systems. A roadmap for designing service systems of the future is discussed. The framework introduced in this paper is based on key user-centered design principles and systems engineering applications to support service competitiveness.