Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review

Immunoglobulin-A vasculitis (IgAV) is classically a childhood small-sized blood vessel vasculitis with predominant involvement of the skin. Gastrointestinal and joint manifestations are common in patients diagnosed with this condition. Nephritis, which is more severe in adults, constitutes the most feared complication of this vasculitis. The molecular bases underlying the origin of IgAV have not been completely elucidated. Nevertheless, several pieces of evidence support the claim that genes play a crucial role in the pathogenesis of this disease. The human leukocyte antigen (HLA) region is, until now, the main genetic factor associated with IgAV pathogenesis. Besides a strong association with HLA class II alleles, specifically HLA-DRB1 alleles, HLA class I alleles also seem to influence on the predisposition of this disease. Other gene polymorphisms located outside the HLA region, including those coding cytokines, chemokines, adhesion molecules as well as those related to T-cells, aberrant glycosylation of IgA1, nitric oxide production, neoangiogenesis, renin-angiotensin system and lipid, Pyrin and homocysteine metabolism, may be implicated not only in the predisposition to IgAV but also in its severity. An update of the current knowledge of the genetic component associated with the pathogenesis of IgAV is detailed in this review.Acknowledgements: RL-Mis supported by the Miguel Servet I programme of the Spanish Ministry of Economy and Competitiveness through the grant CP16/ 00033. FG is recipient of a Sara Borrell postdoctoral fellowship from the “Instituto Carlos III de Salud” at the Spanish Ministry of Health (Spain) (CD15/00095). SR-M is supported by funds from the RETICS Program (RIER) (RD16/0012/0009). FDC is supported by the Ramón y Cajal programme of the Spanish Ministry of Economy and Competitiveness through the grant RYC-2014-16458

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the international registry study ARegPKD was analyzed for characteristics and complications of patients with very early (� 3 months; VEBNE) and early (4�15 months; EBNE) bilateral nephrectomies. Patients with very early dialysis (VED, onset � 3 months) without bilateral nephrectomies and patients with total kidney volumes (TKV) comparable to VEBNE infants served as additional control groups. We identified 19 children with VEBNE, 9 with EBNE, 12 with VED and 11 in the TKV control group. VEBNE patients suffered more frequently from severe neurological complications in comparison to all control patients. Very early bilateral nephrectomies and documentation of severe hypotensive episodes were independent risk factors for severe neurological complications. Bilateral nephrectomies within the first 3 months of life are associated with a risk of severe neurological complications later in life. Our data support a very cautious indication of very early bilateral nephrectomies in ARPKD, especially in patients with residual kidney function, and emphasize the importance of avoiding severe hypotensive episodes in this at-risk cohort. © 2020, The Author(s)

Is presence of hypertension in obese children correlate with the criteria of metabolic syndrome?

WOS: 000251988800011PubMed ID: 17596290In this article, we will describe the presence of metabolic syndrome and its components in a group of hypertensive and obese adolescents. The study presented here was conducted on 20 patients (10 boys) presented with complaints of obesity and hypertension who were diagnosed as metabolic syndrome. In 20 patients who were all obese and hypertensive, existence of a third metabolic syndrome component such as glucose intolerance or dyslipidaemia, was 47% and 35% respectively, whereas existence of both was 55%. Only three of the patients carry all of the five criteria of metabolic syndrome. Mean body mass index and mean blood pressure (P=0.021), uric acid (P=0.046) and fasting blood glucose levels (P=0.023) were found statistically significant. Mean blood pressure levels were related with increase at LDL-cholesterol (P=0.029) and increase in fasting blood glucose levels (P=0.04). Prevention of complications by effective measures in the metabolic syndrome patients is also mentioned. We believe that obese and hypertensive children should be screened for the other components of metabolic syndrome

Coexistence of PFAPA syndrome with separation anxiety

PFAPA syndrome is an auto inflammatory disease. Researchers have stated that auto inflammatory mechanisms can play a role in etiology of several psychiatric diseases and for this reason auto inflammatory diseases are frequently associated with psychiatric disorders. The purpose of this paper, it is aimed to report two cases diagnosed with PFAPA syndrome and having psychiatric symptoms and to discuss them accompanied by literature data. As authors, in the light of cases we report and literature knowledge, we think that children with PFAPA syndrome could be under risk in terms of psychiatric problems due to common inflammatory etiology. [Med-Science 2019; 8(1.000): 247-9

Antibodies to Borna Disease Virus in Children with Attention Deficit-Hyperactivity Disorder Borna disease virus serology in Attention Deficit-Hyperactivity Disorder

Borna disease virus (BDV) causes behavioral disorders in rats infected in the newborn period. We investigated BDV serology in children with attention deficit hyperactivity disorder (ADHD)

Evaluation of renal tubular function in epileptic children treated with levetiracetam

Our study aim was to measure the urinary N-acetyl-β-D-glucosaminidase/creatinine (NAG/UCr) index in epileptic children who received levetiracetam (LEV) treatment at least for 6 months, and compare it to healthy children. Thirty five children with epilepsy were enrolled in this prospective study. NAG was studied using the calorimetric method and NAG levels were expressed in units per liter (U/L) and NAG/UCre levels were determined in U/mmol creatinine. There were no statistically significant differences for the urine NAG and NAG/UCr index before and after LEV treatment in the epileptic group (p>0.05, for each). There were no significant correlations between the serum concentration of LEV and urinary NAG levels (r=0.258, p=0.135) and NAG/UCr levels (r=0.164, p=0.346) before treatment. Our study demonstrated that LEV treatment was safe and did not interfere in renal tubular function in epileptic children. [Med-Science 2016; 5(3.000): 771-5