A term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report : List of authors.

Hypereosinophilia is a rare presentation in all age groups, particularly when it is severe, persistent, and progressive. We describe the clinical characteristics and course of severe hypereosinophilia in a full-term Saudi female neonate. A febrile respiratory illness evolved with a progressive increase in peripheral blood leukocyte and eosinophil counts, reaching 44.9% of leukocytes and an absolute value of 57,000 cells/µl. Different etiological examinations (for viral, bacterial, immunodeficiency, hyper IgE syndrome, gene mutations) revealed extremely high CMV antigenemia and a homozygous mutation in the STAT1 gene. Anhelation was relieved by oxygen and anti-viral treatment. Steroids brought a dramatic response in peripheral blood counts within 24 h. After a 6-week course of antiviral and steroid treatment at home, she had an excellent general condition. Conclusion: Although a rare pathology, it is important to consider genetic disorders when there is an atypical immune response to viral infections.

Pulmonary vasculitis in Behçet's disease: reference atlas computed tomography pulmonary angiography (CTPA) findings and risk assessment-management proposal.

BACKGROUND AND AIM:  Pulmonary artery aneurysms (PAAs) are the most well-defined type of pulmonary vascular complication in Behçet's disease (BD).The aim of this study is to analyze which CT pulmonary angiography (CTPA) signs are associated with serious morbidity and mortality. METHODS: The study included 42 BD patients with pulmonary vascular complications. All patients' medical records were reviewed retrospectively in terms of demographics, disease characteristics, laboratory investigations, pulmonary manifestations, arterial and/or venous thrombosis and CTPA vascular and parenchymal findings. RESULTS: Deep venous thrombosis was observed in 31(73.8%) patients, arterial thrombosis in 13(31%), peripheral arterial aneurysms in 12(286%), haemoptysis in 38 (90.5%), and fatal haemoptysis in 8(19 %) patients. CTPA revealed: in situ thrombosis in 14(33.3%) patients, true stable PAAs in 13(31), true unstable PAAs in 11(26.2%), stable pulmonary artery pseudoaneurysms (PAPs) in 7(16.7%), unstable PAPs in 17(40.5%), the latter were associated with perianeurysmal leaking in 26(61.9%) and bronchial indentation in 19(45.2%).In regression analysis, fatal outcomes were associated with age in years (p=0.035), arterial thrombosis (p=0.025), peripheral arterial aneurysms (p=0.010), intracardiac thrombosis (p=0.026) and positively associated with haemoptysis severity (p<0.001). CONCLUSION: Peripheral arterial thrombosis and/or aneurysms, intracardiac thrombosis and haemoptysis severity are predictor of fatal outcomes in BD pulmonary vasculitis. PAPs with perianeurysmal alveolar haemorrhage and/or bronchial indentation are serious CTPA signs that require prompt identification and aggressive treatment. PAPs are a more serious aneurysmal pattern than true PAAs because they are a contained rupture of a PA branch in the context of pulmonary vasculitis.

Insulin resistance, leptin and adiponectin in lean and hypothyroid children and adolescents with obesity.

BACKGROUND: Obesity usually complicates hypothyroidism. Adipokines like leptin and adiponectin secreted by adipose tissue modulate insulin resistance (IR), appetite, and obesity. The association between adipokines, IR, and thyroid hormone has not been sufficiently studied in children. We investigated leptin and adiponectin as well as IR and their association with thyroid hormone in both lean and hypothyroid children and adolescents with obesity. METHODS: The study included 30 lean hypothyroid, 30 hypothyroid children and adolescents with obesity, and 30 healthy lean children as the control group. Serum thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), fasting blood glucose, fasting insulin, homeostatic model assessment method of insulin resistance (HOMA-IR), leptin, and adiponectin levels were estimated in all participants. RESULTS: Fasting insulin, HOMA-IR, and leptin levels were significantly elevated in hypothyroid children compared to the control group; more in hypothyroid children with obesity. In contrast, adiponectin levels were significantly lower in the hypothyroid children with obesity compared to the lean hypothyroid children and controls. HOMA-IR was positively correlated to TSH and BMI but inversely correlated with fT3 and fT4 in hypothyroid children. There was no correlation between IR and either leptin or adiponectin levels. Leptin and adiponectin levels correlated well with BMI in hypothyroid children and adolescents with obesity. CONCLUSION: Insulin resistance and leptin levels are increased in hypothyroid children and adolescents; more in those with obesity. IR is not related to leptin and adiponectin levels, however, leptin and adiponectin levels correlate well with BMI in hypothyroid children and adolescents with obesity. IMPACT: Insulin resistance (IR) and leptin levels increase in hypothyroid children and adolescent; more with obesity. IR is not related to leptin and adiponectin levels, however leptin and adiponectin levels correlated well with BMI in hypothyroid children and adolescents with obesity.

Indices of insulin resistance and adiposity can detect obesity-related morbidity in pediatrics.

OBJECTIVES: To evaluated obesity-related morbidity prevalence among overweight/obese children and adolescents in Saudi Arabia, adiposity indicators and insulin resistance as obesity-related morbidity predictors. METHODS: We enrolled 318 overweight/obese children attending a Pediatric Endocrinology Clinic at King Abdulaziz University Hospital, Saudi Arabia, aged 2-20 years in this retrospective cross-sectional study from September 2019 to March 2021. All children had nutritional obesity, and their body mass index (BMI) standard deviation score was higher than one standard deviation score above the mean for their age and gender. Clinical adiposity indices including BMI, waist circumference (WC), waist-hip ratio (WHR), and bioimpedance analysis (BIA) of body composition were assessed. Biochemical testing of insulin resistance through homeostasis model assessment for insulin resistance and fasting insulin was performed, along with receiver operating curve analysis to obtain optimal cut-off points for obesity-related morbidity. RESULTS: Obesity related morbidity was found in 61.9%, whereas insulin resistance was detected among 64.7% of the patients. Body mass index standard deviation score, WC, BAI of body composition-derived body fat, homeostasis model assessment for insulin resistance, and fasting insulin are significant obesity-related morbidity predictors, and the cut-off points were established. CONCLUSION: Obesity-related morbidity is widely prevalent among obese children and insulin resistance is a key factor in its prediction. Clinical adiposity indices, given their accuracy and practicability, are important predictors of obesity-related morbidity.

Serum Dipeptidyl peptidase-4 level is related to adiposity in type 1 diabetic adolescents.

BACKGROUND: Insulin resistance (IR) plays a great role in type 1 diabetes (T1DM) disease process than is commonly recognized. Dipeptidyl peptidase-4 (DPP-4) is an enzyme that deactivates many bioactive peptides involved in glucose regulation. AIMS: This study evaluates DPP-4 level in adolescent patients with T1DM compared to controls and investigates the relationship between DPP-4 level and IR in these patients. MATERIALS AND METHODS: We measured serum DPP-4 level in 50 patients with T1DM recruited from the Diabetes Endocrine Metabolism Pediatric Unit, and in 80 healthy controls. IR was assessed by the equation for estimated glucose disposal rate (eGDR). Biochemical evaluation including glycated haemoglobin (HbA1C) and lipid profile were included. RESULTS: IR was found in 80% of patients with T1DM. DPP-4 was significantly higher in control group than patients with T1DM. Patients with T1DM were classified into 3 groups according to DPP-4 tertiles showing significant increase in BMI SDS and total cholesterol across the 3 groups. Significant correlation was found between DPP-4 levels and insulin dose. DPP-4 was significantly higher in patients with T1DM with good glycemic control. CONCLUSION: In sample of individuals researched by us, serum DPP-4 was related to adiposity and not to the hyperglycemia in patients with T1DM. Larger sample should be researched to make firm conclusions.

14-3-3η Protein in serum and synovial fluid correlates with radiographic damage and progression in a longitudinal evaluation of patients with established rheumatoid arthritis.

Objectives: The aim of the study is to examine the association between 14-3-3η protein levels in both serum and synovial fluid (SF) with various parameters in a longitudinal cohort of patients with established rheumatoid arthritis (RA).Methods: Serum and SF samples were obtained from RA patients and 14-3-3η levels were measured. Radiological damage and progression were evaluated using Sharp/van der Heijde score (SHS) at study entry and at 2-years follow-up.Results: A total of 39 RA patients were included with a mean disease duration of 9.6 ± 8 years. Levels of 14-3-3η were two-fold higher in SF than in serum (mean of 3.7 versus 1.7 ng/mL, respectively). While no significant association was found between 14-3-3η levels with disease activity or other laboratory assessments, both serum and SF 14-3-3η levels positively correlated with radiographic damage at baseline (SHS; p < .001). SF, but not serum, 14-3-3η levels correlated with absolute progression (p < .03).Conclusion: 14-3-3η levels are significantly higher in RA SF than in serum in an established RA cohort. Serum and SF 14-3-3η levels correlate with radiographic damage at baseline and at 2-years follow-up. This study further substantiates the utility of 14-3-3η as a biomarker for mechanistic joint damage in established RA.

Shedding light on vasculitis in Egypt: a multicenter retrospective cohort study of characteristics, management, and outcome.

OBJECTIVES: The frequency of different vasculitides and their characteristics vary among different regions. The identification of geographic disparities of disease phenotypes helps the development of international criteria, allowing the classification of patients of different ethnicities. This study aimed to describe the frequency, characteristics, course, response to treatment, and outcome of the different adulthood vasculitides in Egypt. METHODS: This was a multicenter study in which the medical records of adult Egyptian patients diagnosed with vasculitis between 2002 and 2018 were retrospectively reviewed. RESULTS: The most frequent vasculitides in Egypt were Behçet's disease (76%), hepatitis C virus vasculitis (13.9%), and granulomatosis with polyangiitis (3.9%). Most patients (73.8%) had a major event at the time of diagnosis. Generalized granulomatosis with polyangiitis was more common than the localized type (90% versus 10%, respectively). The aortic arch and its branches were the most common affected sites of Takayasu arteritis. Of vasculitides, Behçet's disease and giant cell arteritis were associated with the greatest rates of relapse (62.7% and 33.3%, respectively). Delayed diagnosis and permanent organ damage were reported in 69.9% and 68.9% of patients, respectively. A low mortality rate was noted (1.3%). CONCLUSIONS: The most common types of adulthood vasculitides in Egypt are Behçet's disease, hepatitis C virus vasculitis, and granulomatosis with polyangiitis. Major organ involvement is frequent. Delayed diagnosis and permanent organ damage are common.