|Modeling and designing indices of talent identification in the field of basketball based on physical-motor, psychological, anthropometric, and physiological parameters|
Keshavarz Loghman, Farahani Aboalfazl, Zarei Bidsorkhi Ali
International Archives of Health Sciences 2019 6(2):59-64
Aims: The purpose of this study was to modeling and designing indices of talent identification (TID) in the field of basketball based on physical-motor, psychological, anthropometric, and physiological parameters. Materials and Methods: The research method was qualitative (grounded theory) that was done on the field by interpretive analysis of deep interviews, including 21 experts in; TID (among professional clubs), basketball coaches (among premier league), and university professors (among professors of Tehran University, Shahid Beheshti University, and Kharazmi University). The validity of the interviews was confirmed by verifying the views of experts in the final results, and the reliability of the interviews was also confirmed through process audits and intrasubject agreement of two coders (84%). The analysis of interviews was done through interpretive analysis technique using open coding, axial coding, and selective coding. Results: As a result of the analysis of the interviews, 10 categories, 30 subcategories, and 101 key concepts were extracted. After axial and selective coding of the categories, a paradigm model was presented for TID in basketball. Conclusions: Finally, further explanations and suggestions are provided for each of the categories.
|Taxation for reducing purchase and consumption of sugar-sweetened beverages: A systematic review|
Seyyed Reza Sobhani, Mina Babashahi
International Archives of Health Sciences 2019 6(2):65-72
Aims: Noncommunicable diseases (NCDs) are common in worldwide and lead to a dramatic rise in mortality. Excess consumption of sugar due to dietary changes can lead to arising calorie intake that contributes to weight gain, adiposity, and NCDs. Taxes, subsidies, and other economic executive policy have a key role in discouraging the consumption of unhealthy food. This study was aimed at a systematic review of recent research evidence about the tax impacts on the purchase and consumption of sugar-sweetened beverages (SSBs). Materials and Methods: Five databases, including PubMed, Scopus, Science Direct, CENTERAL, and EMBASE, were systematically searched from 2000 to May 2017. Results: Seven studies were included in this review. In six of the seven experimental studies reviewed demonstrated that consumers can be responsive to changes in food and drink prices. Taxing SSBs effectively could decrease food purchases, increasing SSBs price, and reducing consumption. Reducing the consumption of these beverages results in reduced overweight, obesity, and body mass index among populations. Conclusion: The current evidence base appears to converge and suggests that the fiscal strategy is likely to reduce purchases of high sugar products at least in the short term and likely can lead to decreasing calorie intake.
|Extranodal nasofacial natural killer/T-Cell lymphoma often missed by clinician|
Santosh Kumar Swain, Prabodh Kumar Das, Mahesh Chandra Sahu
International Archives of Health Sciences 2019 6(2):73-77
Aim: This study aims to review the current literature and to focus on etiopathogenesis, clinical profile, diagnosis, and treatment of extranodal nasofacial natural killer (NK)/T-cell lymphoma. Materials and Methods: It is based upon the available literatures from PubMed, Scopus, and Google scholar with the keywords: etiopathogenesis, clinical pictures, diagnostic methods, and current treatment of extranodal nasofacial NK/T-cell lymphoma from 2002 to 2017. Results: Primary nasofacial lymphoma is a rare form of malignancy in head and neck area. Extranodal nasofacial NK/T-cell lymphoma is an unusual clinical entity, which is an aggressive entity of non-Hodgkin's lymphoma with distinct clinicopathological pictures. It is possibly associated with Epstein–Barr virus infection. It is highly aggressive disease with poor prognosis. Nasofacial NK/T-cell lymphoma or lethal midline granuloma is often associated with destruction of midface and surrounding areas such as orbit, paranasal sinuses, and palate. The clinical picture is highly variable, often missed by clinician and depends on location and histopathological type of the lesion. Histopathological and immunohistochemistry are important tools for diagnosis of nasofacial NK/T-cell lymphoma. Histopathological picture shows angiocentric and angiodestructive pattern of tumor cells which often mimic vasculitis. Radiotherapy is the treatment of choice which improves quality and longevity of life whereas addition of chemotherapy gives additional benefit to the patients. Conclusion: Practicing physicians and otorhinolaryngologist need to be aware of this nonspecific presentation of lesion to prevent delay in diagnosis. Early diagnosis and intervention prolongs the survival of the patients.
|Evaluation of evolutionary status of 4–60-month-old children in Kashan and Aran-Bidgol and its related factors in 2016–2017|
Seyed-Alireza Moraveji, Hamideh Ghaffarian, Fatemeh Atoof, Davarkhah Rabbani, Maryam Ahmadishad
International Archives of Health Sciences 2019 6(2):78-83
Background: Paying attention to Children's evolutionary status help to improve their mental capacity and make them more intelligent and creative adults. The present study aimed to investigate the developmental status in 4–60-month-old children of Kashan and Aran-Bidgol and its related factors in 2016–2017. Methods: This descriptive cross-sectional study was performed on 656 children aged 4–60 months in Kashan and Aran-Bidgol that were recruited by a stratified random sampling method. Data were collected through self-report using Ages and Stages Questionnaire (ASQ) and demographic and clinical questionnaire. The ASQ consists of 30 questions in five domains including communication, gross motor, fine motor, problem-solving, and personal-social skills. The inter-rater agreement coefficient of 93%, the Cronbach's alpha coefficient of 0.51–0.87, and the 2-week test–retest correlation of 0.75 are reported for this questionnaire. Data were analyzed using descriptive statistics as well as Chi-square, ANOVA, and t-test. The significance level was considered <0.05. Results: The results showed that 527 (80.3%) of the 656 children were healthy, and the rest had a disorder at least in one of the developmental domains, including 1.5% disorders in communication skills, 6.2% in gross motor, 1.2% in fine motor skills, 1.2% in problem-solving, and 0.9% in the personal-social area. There was a significant relationship between developmental disorders with the child's gender and birth weight. Among maternal characteristics, there was a significant relationship between the mother's job and age with developmental delay. Conclusion: Despite the normal evolution in most children of Kashan and Aran-Bidgol, a significant number of them had a disorder at least in one of the evolutionary domains. It is essential to sensitize the families about the developmental process of their children and encourage them to alleviate the risk factors to prevent early complications of these disorders in the future.
|Burnout among the Nurses of Kashan Beheshti Hospital During 2014|
Manijeh Kadkhodaei, Gholam Abbass Moosavi, Roya Seyyedi
International Archives of Health Sciences 2019 6(2):84-88
Aims: Research suggests that burnout levels have always been higher in the health-care populations and the nurses were at high risk too. It can increase staff turnover and reduce the quality of care. Hence, this study was performed with the purpose of evaluating the rate of professional burnout in the nurses of Beheshti hospital's staff. Materials and Methods: The study population comprised 230 nurses of the Beheshti hospital of Medical Sciences using sampling in 2014. Maslach Burnout Inventory and staff demographic characteristics questionnaire were used in this study. Data were analyzed using the SPSS software, Pearson's independent, Fisher's exact test, ANOVA, and Chi-square test. Results: Most of the participants were in mild-to-moderate levels of exhaustion. they had mild level until severe in depersonalization, and mild in reduced personal accomplishment. however, burnout was higher in women . Health-care staff nurses had a higher level of job burnout than that of administrative staffs (P < 0.001). Conclusions: The findings suggest the research focused could yield important advances in understanding burnout in this group and yield potential interventions to buffer burnout and its consequences.
|Comparing Two Instructing Methods: Instructor-Based (Traditional Lecture) and Student-Based (Class Conference), in Healthcare Learning in Kashan Medical Science University|
Ebrahim Koochaki, Monika Motaghi
International Archives of Health Sciences 2019 6(2):89-92
Aims: Evaluating different methods of profound learning and efficient memorizing is a vital solution for medical science students because of the importance of this science. The present study overviews the comparison between the traditional instructing and the class conference methods. Materials and Methods: This quasi-experimental study was conducted on 50 students of Kashan in 2016 and 2017 selected by available sampling method. For the first group (25 students), instructing was performed via traditional lecture, and the second (25 students) experienced class conference approach. At the end of each semester, the satisfaction questionnaire assessment and knowledge of the students distributed among the subjects and filled out, then analyzed by SPSS 16 software. Results: The mean scores obtained from traditional lecture and class conference approaches were 95 with 4.2 ± 0.41 and 96 with 4.44 ± 0.36, respectively (T = 0.6, P = 0.06), which demonstrated no significant difference. Furthermore, the students' satisfaction level of lecture and conference was measured as 3.87 ± 0.41 and 4.58 ± 0.25, respectively, which revealed a significant difference (P = 0.04). Conclusion: Although the two instructing approaches used in this study did not considerably affect the final scores of the students, and no statistically significant difference was observed among the students for the two methods, class conference could mostly draw attention of the students. Therefore, extended research on applying student-based rather than instructor-based approaches is suggested.
|Relationship between developmental assets and addiction potential with regard to mediating role of alexithymia in adolescents of Arak, Iran|
Akram Mazloomi, Hossein Davoudi, Hasan Heidari, Mohammad Asgari
International Archives of Health Sciences 2019 6(2):93-100
Aims: This study aimed at presenting a model for addiction potential based on developmental assets mediating by alexithymia in adolescents living in Arak, Iran. Materials and Methods: Five hundred members were selected as samples (n = 500) among female and male second-grade high school students at the tenth and eleventh academic grades in Arak using cluster random sampling. To collect data, Iranian Addiction Potential Scale, Toronto Alexithymia Scale and Developmental Assets Profile were used. The data were analyzed using Structural Equation Modeling and LISREL Software. Results: Model fit indices had suitable model fit with data. Internal developmental assets with path coefficient of B = −0.48 were more effective in reducing addiction potential compared with external developmental assets with path coefficient of B = −0.27. Positive identity, empowerment, and social competency were the most effective components of developmental assets in reducing addiction potential. Internal assets could explain addiction potential in adolescence more than external assets. Conclusion: Direct effect of developmental assets on addiction potential was confirmed and its indirect effect with mediation of alexithymia was significant. Moreover, results showed that only internal developmental asset had an effect on addiction potential in adolescents mediating by alexithymia, so the effect of external developmental asset on addiction potential in adolescents based on the mediation of alexithymia was rejected.
|The effect of acceptance and commitment therapy on the conflict resolution styles of incompatible marital women|
Maryam Farahanifar, Hasan Heidari, Hosein Davodi, Seyed Ali Aleyasin
International Archives of Health Sciences 2019 6(2):101-107
Aim: Acceptance and commitment therapy (ACT) is one of the third-generation behavioral therapies in which it is attempted to increase the psychological relationship of an individual with his or her thoughts and feelings instead of changing cognition. The purpose of this study was the effectiveness of ACT on conflict resolution styles of incompatible marital women. Methods: This is a semi-experimental, pretest and posttest design and a 3-month follow-up. The statistical population of the study consisted of all incompatible women who referred to counseling centers in Arak in 2018. Therefore, 24 participants were selected by convenience sampling method and randomly assigned to one test groups and one control group of 12 participants for each. Data were collected in the pretest, posttest and follow-up stages with (the Conflict Resolution Styles Scale or Rahim Organizational Conflict Inventory-II). The test group received a therapeutic intervention based on ACT for twelve 90-min sessions, but no therapy was provided for the control group. After the completion of treatment sessions, both groups were subjected to posttest. The data were analyzed using analysis of variance with repeated measures and Bonferroni post-hoc test. Results: The results showed that there was a statistically significant difference between the posttest scores of the test group compared with that of the control group (P < 0.05), and the difference was suitably sustainable during the time. Conclusion: ACT is considered as an effective intervention in improving conflict resolution styles.
|The effect of visual training on the rate of performance accuracy in girl soccer players|
Azam Afshar, Jaleh Baqerli, Morteza Taheri
International Archives of Health Sciences 2019 6(2):108-113
Aims: The purpose of this study was to determine the effect of visual training on the performance of shooting skills of soccer girl players. Materials and Methods: The research method was quasi-experimental, in which the participants were assigned into experimental and control groups, with pre-test and post-test design. The participants were girl soccer players in Alborz province. In this study, among the community, 45 athletes with an average age of 19.3 ± 1.4 years were selected from club in Alborz province. The research tool was based on Raven and Gibor's vision exercises and a researcher-made exercise protocol (colored gates, colored caissons). Specific visual training and researcher-made sports vision exercises were performed for 2 weeks (three sessions per week and 12 min each session). The covariance analysis and Bonferron's post hoc test were used to analyze the data. Results: The results of the study showed that there was a significant difference between the rate of performance accuracy of soccer players in visual training, athletic-based visual training, and control groups (P = 0.000). It was also indicated that visual training had no significant effect on the performance of soccer girls' shots (P = 0.003). However, sports–visual exercises improved their shooting skills (P = 0.002). Conclusion: Specific visual training could be more beneficial in improving the performance of soccer girls' shots.
Τετάρτη, 29 Μαΐου 2019
|MRI findings in liquor hypotension syndrome|
|Dynamic thiol/disulphide homeostasis in children with Duchenne muscular dystrophy|
Duchenne muscular dystrophy (DMD) is a disorder that alter the expression of the dystrophin protein. Dystrophin deficiency alters the structural integrity of the contractile apparatus/sarcolemmal integrity, leading to dystrophic changes. Dystrophin deficiency results in an increase in oxidative stress. We aimed to investigate the thiol/disulfide balance as an oxidative stress marker in children with DMD. We included 24 DMD, and 22 healthy control group subjects in the study. The total thiol, native thiol, and disulphide levels were measured and the disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated in DMD patients and healthy subjects. The mean age distribution of the patients and the healthy control group subjects was similar. The total thiol, native thiol, and disulfide levels were lower in DMD group than the healthy controls. In conclusion, the markers and ratios were measured and calculated in the blood, and we detected that the total thiol, and native thiol levels were lower in DMD group than the healthy controls. These results indicate that dynamic thiol-disulphide homeostasis can be used as a marker of oxidative stress in clinical trials with DMD.
|Distal 1q21.1 and proximal 1q21.2 microduplication in a child with attention-deficit hyperactivity disorder|
|Central-variant posterior reversible encephalopathy syndrome in a young patient with systemic lupus erythematosus|
|Serum troponin T in patients with amyotrophic lateral sclerosis|
|Brain abscess due to Nocardia infection in an immunocompetent patient with asymptomatic pulmonary alveolar proteinosis|
|Writer's cramp: a new dystonic feature in spinocerebellar ataxia type 3|
|Predictors of amyotrophic lateral sclerosis mimic syndrome|
The term amyotrophic lateral sclerosis mimic syndrome (ALSms) includes pathologies that present signs or symptoms similar to those caused by amyotrophic lateral sclerosis (ALS), which can lead to misdiagnosis. In general, any kind of misdiagnosis can result in negative clinical, psychological and economic consequences as well diagnostic and treatment delay. The objectives were to determine the frequency and to compare the demographic and clinical characteristics of patients with ALS and ALSms in our ALS clinic. We retrospectively studied all patients evaluated from 2007 to 2017 including only patients with a definite final diagnosis. Out of 368 patients with motor neuron disease symptomatology, 43 (11.7%) had an ALSms. The most frequent etiology was compressive myelopathy (32.6%). Multivariate analysis considering positive associations was statistically significant for patients having only upper or lower motor neuron signs in the physical examination, a non-compatible electromyogram (EMG), as well as atypical first symptoms. ALS misdiagnosis is an ongoing and not infrequent problem. From our series of patients, atypical symptoms, absence of EMG pathological findings or isolated upper or lower motor neuron disease should prompt suspicion of a differential diagnosis.
|Letter to the editor: phenytoin-induced rhabdomyolysis|
|Psychotic polyembolokoilamania secondary to left parietal lobe glioblastoma|
|The service economy: U.S. trade coalitions in an era of deindustrialization|
Services dominate the US economy and are increasingly traded across borders yet little is known about service firms' trade policy objectives or lobbying activities. We fill this gap by examining services' political engagement on trade policy as manifested through lobbying, public positions on trade, and reports issued by U.S. Industry Trade Advisory Committees. We document for the first time that service firms are highly active in the politics of US trade agreements and, compared to firms in goods-producing industries, are much less likely to disagree over trade. Instead, service firms are almost uniformly supportive of US trade agreements, which we explain by focusing on the stark US comparative advantage in services. Service firms are therefore a key constituency for deeper international economic cooperation, helping to explain the present era of global integration despite tough times for uncompetitive US manufacturing. We expect service producers to join the defense of global economic order against emergent populism.
|Popular non-support for international organizations: How extensive and what does this represent?|
This paper investigates popular non-support for international organizations (IO), asking two questions. First, are attitudes within the mass public becoming less supportive of IOs? Second, how can we explain these IO attitudes, especially when the mass public appears to know relatively little about specific international institutions? Using survey data from the International Social Survey Programme's National Identity module, fielded across multiple countries in 1995, 2003, and 2013, it reports that on average and within most countries, citizen attitudes about IOs have become less positive over time. To explain these attitudes, this paper argues that citizens tend to group things that appear as "international" such as cross-border economic flows and IOs. While citizens might feel positively or negatively about these international factors, this grouping implies that they view them similarly, based on what they can feel from the international level related to their job and income. Thus, less (more) skilled citizens who are hurt by (who benefit from) economic globalization should express more negative (positive) views about IOs. Controlling for cultural attitudes socialized through education, we find that skill is a statistically significant and substantively strong predictor of IO attitudes. We also show how this individual-level skill difference gets larger in countries that are more and/or less-favorably exposed to economic globalization.
|Hello, goodbye: When do states withdraw from international organizations?|
Under what conditions do states withdraw from intergovernmental organizations (IGOs)? Recent events such as Brexit, the US withdrawal from UNESCO, and US threats to withdraw from NAFTA, NATO, and the World Trade Organization have triggered widespread concern because they appear to signify a backlash against international organizations. Some observers attribute this recent surge to increasing nationalism. But does this explanation hold up as a more general explanation for IGO withdrawals across time and space? Despite many studies of why states join IGOs, we know surprisingly little about when and why states exit IGOs. We use research on IGO accession to derive potential explanations for IGO withdrawal related to domestic politics, IGO characteristics, and geo-politics. We quantitatively test these potential explanations for withdrawal using an original dataset of 493 IGOs since 1945, documenting about 200 cases of withdrawal. We find that nationalism is not the key driver of IGO withdrawals in the past. Instead, we show that geo-political factors – such as preference divergence and contagion – are the main factors linked to IGO withdrawals, followed by democracy levels in the country and organization. These findings have important implications for research on the vitality of international organizations, compliance, and the liberal world order.
|Global value chains and the political economy of WTO disputes|
This paper investigates how the rise of global value chains (GVCs) in international trade affects the political economy of trade disputes. It addresses the gap between the domestic and international politics of trade disputes, which is especially relevant in these times as populist nationalism favors protectionist forces. We advance the argument that firms face institutional disadvantages in opposing protectionist forces at home, as observed in how contesting firms fare in US anti-dumping cases. As a consequence, they have incentive to seek cross-border cooperation with firms along the supply chain to escalate the adoption of anti-dumping measures to WTO disputes. The paper implements a two-stage empirical strategy. First, we examine the political contestation around US anti-dumping cases ongoing in the WTO era that takes place in International Trade Commission (ITC) hearings. We observe that while these cases see significant opposition from firms relying on the imports of intermediate goods, most cases end in favor of petitioners supporting the imposition of anti-dumping duties. In a second step, we quantitatively analyze the effect of intermediate and GVC goods trade in products that are the subjects of anti-dumping cases on the incidence of a formal WTO dispute. The results suggest that the high costs of litigation at the WTO are often prohibitive relative to the volume of trade in question and pose an equally difficult challenge for firms seeking to overturn protectionist measures.
|"Take back control"? The effects of supranational integration on party-system polarization|
In this paper, we examine the relationship between supranational integration and domestic party-system polarization (extremism). We first construct a theoretical argument that uncovers the key trade-off between the "output legitimacy" of a supranationally integrated party system and the inevitable loss of "input legitimacy" caused by externally imposed policy constraints. This translates into a strategic tradeoff between responsibility and responsiveness at the party level of electoral competition. We hypothesize that while moderate supranational policy constraints can initially speed-up platform convergence, ever-closer political integration may reverse the trend towards higher levels of party-system polarization and party extremism. We apply our framework to the case of EU integration and test our key non-monotonic prediction both at the party-system level of polarization and at the party level of ideological extremism. Finally, we apply to synthetic control method (SCM) for causal inference in comparative case studies to study how political integration and supranational policy constraints have affected their overall level of party-system polarization over time. Our overall empirical analysis strongly corroborates our theoretical argument.
|International organizations in a new era of populist nationalism|
This article introduces the special issue on International Organizations in a New Era of Populist Nationalism. The special issue aims to clarify the stakes for and the politics of international organizations in a time of rising populist nationalism around the world. In this introductory essay, we attempt to disentangle the rise of populism and a resurgence of nationalism as distinct processes and concepts. While neither force is new, we observe significant variation across countries in the type of level of nationalist and populist objections to international institutions. We develop a typology for thinking about how and when populism, nationalism, or their combination might have different effects on international cooperation and organizations. Finally, we review the specific article contributions to the special issue and how they fit with the themes developed in this essay. The final section concludes with questions and ideas for future research on the topic that will enhance our understanding of the complex challenges – and potential opportunities – for international cooperation and organizations in the years ahead.
|Euroscepticism and government accountability in the European Union|
The European Union has become a contested issue amongst voters in Europe. I analyze how the increasingly salient attitudes toward European integration have affected how voters hold their governments accountable for their policy decisions at the EU-level. I argue that attitudes toward the EU have become an important source of electoral accountability that complement attitudes on the left-right dimension, but they matter differently for pro- and anti-European voters. Whereas Eurosceptic voters are likely to use their attitudes toward the EU to hold their governments accountable, pro-European voters tend to rely on their specific attitudes toward particular policies to assess the responsiveness of their politicians. The paper presents the results of a conjoint experiment in a survey of 2,540 German citizens to analyze how pro- and anti-European voters' attitudes influence their assessment of typical signals of government responsiveness.
|The rise of modern taxation: A new comprehensive dataset of tax introductions worldwide|
This article describes the new Tax Introduction Dataset (TID). Listing the year and the mode of the first permanent introduction of six major taxes (inheritance tax, personal income tax, corporate income tax, social security contributions, general sales tax and value added tax) in 220 countries, 1750–2018, TID is the most comprehensive dataset of its kind. The comprehensiveness of our measure is of critical value to empirical work on the causes of tax innovation and its consequences for state, society and economy. In this paper, we explain the selection of our tax sample and the structure of the dataset, descriptively map temporal and regional patterns of tax introductions around the world, and draw on TID to investigate associations between tax introductions and economic development, war, and democratization.
|Publisher Correction to: The KOF Globalisation Index – revisited|
The article listed above was initially published with incorrect copyright information. Upon publication of this Correction, the copyright of this article changed to "The Author(s)". The original article has been corrected.
|Social standards in trade agreements and free trade preferences: An empirical investigation|
Free trade generates macroeconomic gains but also creates winners and losers. Historically, to reconcile this tension, governments compensated globalization losers with social spending in exchange for support for free trade, known as the embedded liberalism compromise. In the neoliberal era, what other policies can governments pursue to strengthen support for globalization? We assess the effect of social standards in preferential trade agreements (PTAs) on individual preferences for free trade. We analyze data from an original survey experiment and find that respondents in advanced industrialized countries have greater support for free trade when PTAs include social standards. Differences do exist in how these social standards are perceived: while we do find evidence of an embedded liberalism compromise recast, fair trade norms have the most salience. An external validity check using the PEW global attitudes survey confirms the hypothesis. Our analysis has serious implications for the legitimacy of the global trading system suffering from neo-mercantilist creep.
|Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations|
|Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome|
Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib.
We used DNA sequencing to identify mutations in TMEM173 in patients with peripheral blood type I IFN signature. The JAK1/2 inhibitor ruxolitinib was administered on an off-label basis.
We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Indirect echocardiographic signs of pulmonary hypertension were present in one case. Following treatment with ruxolitinib, we observed improvements of respiratory function including increased forced vital capacity in two patients, with discontinuation of oxygen therapy and resolution of echocardiographic abnormalities in one case. Efficacy was persistent in one patient and only transitory in the other two patients. Clinical control of skin complications was obtained, and one patient discontinued steroid treatment. One patient, who presented with kidney involvement, showed resolution of hematuria. One patient experienced increased recurrence of severe viral respiratory infections. Monitoring of peripheral blood type I interferon signature during ruxolitinib treatment did not show a stable decrease.
We conclude that targeting type I IFN receptor signaling may represent a promising therapeutic option for a subset of patients with SAVI syndrome and severe lung involvement. However, the occurrence of viral respiratory infection might represent an important cautionary note for the application of such form of treatment.
|Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study|
Selective IgA deficiency (SIgAD) is the most common humoral primary immunodeficiency. Long-term follow-up data in large cohort of pediatric patients are scarce.
We report on a single-center cohort of 184 pediatric patients affected with selective IgA deficiency and describe the characteristics at diagnosis and during follow-up.
Respiratory infections were the most common clinical finding leading to the initial diagnosis (62%). Positive family history for antibody deficiencies (selective IgA deficiency, common variable immunodeficiency) led to SIgAD diagnosis in 16% of cases. During follow-up, while the incidence of respiratory infections was not particularly high, gastrointestinal symptoms were reported in 27% of patients. Allergic manifestations were found in 23% at diagnosis and an additional 16% of patients during follow-up, leading to a prevalence of atopy of 39% among SIgAD patients. Autoimmune manifestations, excluding celiac disease, were found in 9% of affected patients during follow-up. Celiac disease was found in a high prevalence (14%). Increase of serum IgA levels to partial deficiency (9%) and normal serum levels for age (4%) was observed during follow-up. A small percentage of patients (2%) progressed to common variable immunodeficiency (CVID).
In conclusion, this is the first study to describe a large single-center pediatric cohort of patients affected with SIgAD, revealing that overall most patients do well with regard to infections. Many develop CD, at a rate much higher than the general population. A few normalize their IgA levels. A few progress to CVID. Thus, careful follow-up is suggested to diagnose and treat potential complications earlier for avoiding potential morbidities.
|Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity|
Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to require medical intervention attests to an inherited or acquired immunodeficiency that must be diagnosed or identified. Self-healing infections can also result from milder forms of immunodeficiency. We review here the inherited forms of immunodeficiency underlying severe infections of LAVs. Inborn errors of immunity (IEIs) underlying bacille Calmette-Guérin (BCG), oral poliovirus (OPV), vaccine measles virus (vMeV), and oral rotavirus vaccine (ORV) disease have been described from 1951, 1963, 1966, and 2009 onward, respectively. For each of these four LAVs, the underlying IEIs show immunological homogeneity despite genetic heterogeneity. Specifically, BCG disease is due to inborn errors of IFN-γ immunity, OPV disease to inborn errors of B cell immunity, vMeV disease to inborn errors of IFN-α/β and IFN-λ immunity, and ORV disease to adaptive immunity. Severe reactions to the other 11 LAVs have been described yet remain "idiopathic," in the absence of known underlying inherited or acquired immunodeficiencies, and are warranted to be the focus of research efforts. The study of IEIs underlying life-threatening LAV infections is clinically important for the affected patients and their families, as well as immunologically, for the study of the molecular and cellular basis of host defense against both attenuated and parental pathogens.
|Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation|
|Variable Responses to Tocilizumab in Four Patients with Schnitzler Syndrome|
|Role of Allogeneic Hematopoietic Stem Cell Transplant for Chronic Granulomatous Disease (CGD): a Report of the United States Immunodeficiency Network|
Chronic granulomatous disease (CGD) is a primary immunodeficiency for which allogeneic hematopoietic stem cell transplant (HSCT) offers potential cure. Direct comparison of HSCT to non-HSCT management in the North American population was performed to identify clinical factors associated with overall survival (OS) and transplant-related survival (TRS).
Retrospective review of CGD subjects enrolled in the United States Immunodeficiency Network. Survival was estimated by the Kaplan-Meier method and modeled by proportional hazards regression.
We identified 507 patients (66% CYBB mutants) diagnosed in 1953–2016. Fifty underwent allogeneic HSCT. Median follow-up was 9.1 years after diagnosis (0–45.8 years). OS was negatively associated with CYBBmutation (HR = 6.25; p = 0.034) and not associated with HSCT (88% v. 85% ± HCT) (HR = 1.26; p = 0.65). Transplant at ≤ 14 years old was associated with improved TRS (93% v. 82% at T + 60 months) (HR = − 4.51; p = 0.035). Patients transplanted before 15 years old had fewer severe infections pre-HSCT (mean 0.95 v. 2.13; p = 0.047). No mortality was reported in patients receiving stem cells from matched siblings. Infection incidence declined post-HSCT in subjects with greater than or equal to four infections pre-HSCT (p = 0.0010). Compared to non-HSCT patients ≥ 15 years old, post-transplant survivors had higher mean performance score (93.2 v. 85.9; p = 0.0039) and lower frequency of disability (11% v. 52%; p = 0.014).
Allogeneic HSCT was associated with reduced infection incidence and improved functional performance, but not with a change in overall survival. Transplant-related survival was elevated in patients undergoing HSCT before 15 years old. Consider HSCT prior to late adolescence in patients with severely diminished reactive oxygen intermediate synthesis, particularly if a matched sibling is available.
|Enterovirus-Associated HLH: Addition of Anakinra to IVIG and Corticosteroids|
|Fifteen Years of the J Project|
|Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency|