Cutaneous Sarcoid-Like Granulomas in a Child Known with Nijmegen Breakage Syndrome

Background: Nijmegen Breakage Syndrome(NBS) is a rare autosomal recessive disorder with specific clinical features, characteristic chromosomal breakage and combined imunodeficiency. Patients with this condition also associate growth retardation with microcephaly, predisposition to malignancy and specific skin manifestations. Case Presentation: Here we report a 3-year old girl known with NBS associated with cutaneous sarcoid-like lesions. She presented with one year history of squamous lesions on the face and upper and lower limbs. The lesions were biopsied and histopatological examination revealed nonnecrotizing epitheloid granulomas and raised the suspicion of a sarcoid-like entity. Conclusion: The interest of this case will serve to better understand clinical manifestations in a rare genetic entity. Close follow-up is advised as cutaneous granulomas may be the first manifestation of systemic granulomas

Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome

Background: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. Case Presentation: We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation). Conclusion: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features

THE PREVALENCE OF CONGENITAL HEART DISEASES AMONG ROMANIAN CHILDREN — EXPERIENCE OF A SINGLE CENTER

Aim. Congenital heart defects (CHD) are the leading cause of infant mortality becoming an important public health problem. Time trends in CHD by specific phenotype and with long follow-up time are rarely available for a large pediatric population.Material and methods. We present the prevalence of CHD over the past 5 years among Romanian children. Individuals with CHDs were classified by several criteria including type of pathology, association of the pathology with various syndromes and abnormalities, postnatal complications or treatment.Results. The overall CHD birth prevalence increased. Generally, prevalence increased for defects diagnosed in infancy and preschoolers patients. Isolated septal defects such as atrial septal defect (ASD) was present in 29,69% of patients while transposition of the great vessels was present in 1,87% of children, respectively. Among the severe defects, tetralogy of Fallot — atresia/hypoplasia of the pulmonary artery association showed the largest prevalence. Considering the syndromatic CHD, the highest incidence (78,78%) was recorded for Down syndrome, followed by Turner syndrome. The most frequent postnatal complication in CHD patients was cardiomegaly, followed by pulmonary hypertension. Only 29,94% of the patients underwent corrective surgery, the rest remained on medication. The highest incidence rate was recorded for tetralogy of Fallot (42,85%), followed by isolated septal defects. On average, tetralogy of Fallot cases were operated on 16,6 months after diagnosis while transposition of the great vessels after 2,5 months.Conclusion. The increasing prevalence of CHDs reported was confirmed in the present study. This is mostly due to an increasing number of isolated septal defects diagnosed in infancy. In the future, the etiology of CHD needs to be further clarified and prospective birth defect registries covering the a large population are needed to determine the exact birth prevalence of CHD

Oxidative stress as a potential target in acute kidney injury

Background Acute kidney injury (AKI) is a major problem for health systems being directly related to short and long-term morbidity and mortality. In the last years, the incidence of AKI has been increasing. AKI and chronic kidney disease (CKD) are closely interconnected, with a growing rate of CKD linked to repeated and severe episodes of AKI. AKI and CKD can occur also secondary to imbalanced oxidative stress (OS) reactions, inflammation, and apoptosis. The kidney is particularly sensitive to OS. OS is known as a crucial pathogenetic factor in cellular damage, with a direct role in initiation, development, and progression of AKI. The aim of this review is to focus on the pathogenetic role of OS in AKI in order to gain a better understanding. We exposed the potential relationships between OS and the perturbation of renal function and we also presented the redox-dependent factors that can contribute to early kidney injury. In the last decades, promising advances have been made in understanding the pathophysiology of AKI and its consequences, but more studies are needed in order to develop new therapies that can address OS and oxidative damage in early stages of AKI. Methods We searched PubMed for relevant articles published up to May 2019. In this review we incorporated data from different types of studies, including observational and experimental, both in vivo and in vitro, studies that provided information about OS in the pathophysiology of AKI. Results The results show that OS plays a major key role in the initiation and development of AKI, providing the chance to find new targets that can be therapeutically addressed. Discussion Acute kidney injury represents a major health issue that is still not fully understood. Research in this area still provides new useful data that can help obtain a better management of the patient. OS represents a major focus point in many studies, and a better understanding of its implications in AKI might offer the chance to fight new therapeutic strategies

An Integrated Approach Using HLAMatchmaker and Pirche II for Epitopic Matching in Pediatric Kidney Transplant—A Romanian Single-Center Study

(1) Background: Renal transplantation (KT) is the most efficient treatment for chronic kidney disease among pediatric patients. Antigenic matching and epitopic load should be the main criteria for choosing a renal graft in pediatric transplantation. Our study aims to compare the integration of new histocompatibility predictive algorithms with classical human leukocyte antigen (HLA) matching regarding different types of pediatric renal transplants. (2) Methods: We categorized our cohort of pediatric patients depending on their risk level, type of donor and type of transplantation, delving into discussions surrounding their mismatching values in relation to both the human leukocyte antigen Matchmaker software (versions 4.0. and 3.1.) and the most recent version of the predicted indirectly identifiable HLA epitopes (PIRCHE) II score. (3) Results: We determined that the higher the antigen mismatch, the higher the epitopic load for both algorithms. The HLAMatchmaker algorithm reveals a noticeable difference in eplet load between living and deceased donors, whereas PIRCHE II does not show the same distinction. Dialysis recipients have a higher count of eplet mismatches, which demonstrates a significant difference according to the transplantation type. Our results are similar to those of four similar studies available in the current literature. (4) Conclusions: We suggest that an integrated data approach employing PIRCHE II and HLAMatchmaker algorithms better predicts histocompatibility in KT than classical HLA matching