Background: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory and hematologic, however, most patients presented with significant overlap between these three phenotype groups. Due to its large heterogeneity, DADA2 is often mistaken with other connective tissue diseases. Over 60 DADA2-associated mutations have been identified so far, still we describe a new mutation with possible relation to severe hematological involvement Case presentation: We present a case of DADA2 deficiency with disease onset at 3 years old with fever, oligoarthritis, mouth sores and recurrent episodes of neutropenia misdiagnosed as Behcet disease, then systemic lupus erythematosus. At the age of 18 she developed gastrointestinal vasculitis complicated with multiple bowel resections, enterocutaneous fistulas and lower limb ischemia. Genetic testing reveals heterozygous mutations at positions 139 (exon 2) and 661_664 (exon 4) of the coding sequence of ADA2 (c.139G>A, c.661_664del), resulting respectively in amino acid substitution p.Gly47Arg and premature translational stop signal p.Ala221Glnfs*45 in ADA2. Thus, the patient was diagnosed with ADA2 deficiency. TNF blockers were started but the patient died due to septic complications related to severe, nonresponsive pancytopenia. Conclusions: Our case highlights the valuable diagnostic benefit of early specific genetic testing for patients with complex unclear diseases in which vasculopathy/vasculitis, dysregulated immune function and/or hematologic abnormalities may predominate.
Objectives. The aim of this study was to asses the risk factors, the grades of severity, and the complications associated with intraventricular hemorrhage. Methods. The retrospective study, conducted over a period of five years in the Neonatology Clinic Timisoara, included 514 preterm infants with specific sonographic signs of intraventricular hemorrhage (IV). Results. The incidence varied indirectly proportional to gestational age, being higher among preterm VLBW and ELBW. The main incriminated risk factors were: acidosis, respiratory distress syndrome, hypoxia and hypercarbia. The distribution of cases based on the degree of severity was as follows: grade I, 204 patients (39.68%), grade II, 142 patients (27.62%), grade III, 91 cases (17.70%) and grade IV, 77 cases (15%). Most cases were asymptomatic, being diagnosed based on routine ultrasound. 36% had saltatory evolution, with progressive deterioration of neurologic status, altered muscle tone and respiratory distress. 21% had catastrophic evolution with bulging fontanelle, projectile vomiting, seizures, decerebrate posturing, and apneic spells. Upon follow-up at 6 months, the outcome of the sonographic signs depended on the severity of the bleed, 28.9% cases presented complete resorption, 35% germinal matrix cyst and 25.87% ventriculomegaly. Conclusions. Transfontanellar ultrasound was the diagnostic method of choice. Most intraventricular bleedings were diagnosed among VLBW and ELBW infants, and were severe forms of disease. Mild and medium forms of disease had good outcome, with partial/ complete resolution of the ultrasonographic signs. Posthemorrhagic obstructive hydrocephalus was the most common complication.
Obiectiv. Scopul principal al lucrării este acela de a evalua factorii predispozanţi, evoluţia şi patologia asociată pneumotoraxului în perioada neonatală. Material şi metodă. S-a efectuat un studiu retrospectiv, pe o perioadă de doi ani, pe 11 pacienţi internaţi în Spitalul Clinic de Urgenţă pentru Copii „Louis Ţurcanu“, Timişoara, secţia Neonatologie – Prematuri, diagnosticaţi cu pneumotorax în peiroada 2014-2015. Rezultate. Din 1.689 de nou-născuţi internaţi, 11 pacienţi au dezvoltat pneumotorax, incidenţa fiind de 0,65%. 8 pacienţi (73%) au fost de sex masculin şi 3 pacienţi (27%) de sex feminin. Din cei 11 pacienţi, 4 au fost nou-născuţi la termen cu VG (vârsta de gestaţie) peste 37 de săptămâni şi 7 au fost nou-născuţi prematuri cu VG sub 37 de săptămâni. În funcţie de greutatea la naştere, 4 au avut greutatea peste 2.500 g şi 7 sub 2.500 g. Cauza cea mai frecventă a pneumotoraxului în grupul studiat a fost reprezentată de sindromul de detresă respiratorie, cu un procent de 45,4%. Concluzii. Pneumotoraxul reprezintă o afecţiune importantă în patologia neonatală. Este esenţială recunoaşterea şi iniţierea tratamentului încă din fazele iniţiale, pentru reducerea apariţiei complicaţiilor secundare.
Aim. The main purpose is to evaluate the predisposing factors, the evolution and the associated pathology of the pneumothorax in the neonatal period. Materials and methods. Retrospective study over two years between 2014 and 2015 on 11 patients hospitalized in the Neonatology department of “Louis Turcanu” Children’s Emergency Hospital, Timisoara, diagnosed with pneumothorax. Results. From 1689 newborn infants admitted, 11 patients developed pneumothorax, the incidence was 0.65%. 8 patients (73%) were males and 3 (27%) were females. 4 out of those 11 patients were term newborn infants (gestational age >37 weeks) and 7 patients were premature newborns (<37 weeks of gestational age). Based on the birth weight 4 patients had over 2,500 grams and 7 under 2,500 grams. The main cause of the pneumothorax in the study group was the respiratory distress syndrome (45,4%). Conclusions. Pneumothorax represents an important condition in the neonatal pathology, it is essential to recognize and initiate the treatment from early stages to reduce the complications.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.