We suggest that IFN-gamma and IL-17 could have a role in the pathogenesis and progression of LN. The Th1 and Th17 cells may be imperative in the severity of LN. Recognizing the complexity of the immune pathways involved in lupus reminds us that targeting B cells only may not suffice to control the progression of the inflammation.

The medical records of 16 patients diagnosed as intracardiac thrombus were searched. The size, location and outcome of thrombus together with demographic data of patients were assessed. The median age of the patients was 2.2 years. Six patients were newborn and two patients were infant. The median size of thrombus was 9 mm. The localization was right atrium in seven, right ventricle in five, left ventricle in one, pulmonary artery in one, and superior vena cava in two patients. There was prematurity in five, ciyanotic congenital heart disease in one, blood culture positivity in three, malignancy in four, nephrotic syndrome in one, indwelling catheters in 10, and acquired or genetic thrombophilia in six patients as risk factors. In the treatment, the first choice was tissue plasminogen activator in two patients, heparin infusion in one patient and low molecular weight heparin in remaining 12 patients. In nine patients, therapy included parenteral antimicrobials together with anticoagulants. The result was complete resolution in 15 patients and in one patient thrombus was surgically removed. The median time was 16 (2-70) days for 50% resolution and 26 (3-93) days for complete resolution. There was a statistically significant (P = .027 and r = 0.5) correlation between the size and the complete resolution time. There was no anticoagulant therapy related major complication. In patients with intracardiac thrombus, selection of anticoagulant therapy may decrease the risk of complications. Surgery is rarely required and thrombolytics are not usually necessary for resolution of thrombus.

BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, OMIM 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA). This study aims to examine the consequences and pathogenicity of a novel homozygous splice site variant in BRAT1 in a patient presenting with migrating focal seizures since birth without prominent rigidity. The patient was born from a consanguineous marriage and has had seizures since the neonatal period. He presented with dysmorphic features, pontocerebellar hypoplasia, and migrating focal seizures. Despite supportive treatment, his symptoms rapidly progressed to intractable myoclonic seizures, bouts of apnea and bradycardia, and arrest of head growth, with no acquisition of developmental milestones. Clinical exome sequencing yielded a novel homozygous splice variant in BRAT1. Genetic analysis based on reverse transcription of the patient's RNA followed by PCR amplifications performed on synthesized cDNA and Sanger sequencing was undertaken, and the functional effect of a BRAT1 variant on splicing machinery was demonstrated for the first time. The severe clinical presentation of migrating focal seizures and pontocerebellar hypoplasia in the absence of rigidity further expands the genotypic and phenotypic spectrum of BRAT1-related neurodevelopmental disorders.

Thrombotic thrombocytopenic purpura (TTP) is a rare, dangerous, life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia, along with organ dysfunction due to microangiopathy-related ischemia. Plasma exchange and steroids are used for initial treatment, and rituximab is often used in refractive patients. Caplacizumab, cyclophosphamide, and splenectomy are among other treatment options. It has been reported that bortezomib, a proteasome inhibitor, can be used in the management of refractory acquired TTP. Herein, we present a 16-year-old female patient who was monitored for acquired TTP and treated with high-dose steroids, plasma exchange, rituximab, cyclophosphamide, and N-acetylcysteine but developed renal, cardiac, gastrointestinal, and neurologic complications. The girl was then successfully treated with bortezomib, and she has been monitored in remission for 6 months. We consider that bortezomib is a beneficial treatment, especially in patients with refractory TTP.

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Aim To evaluate thiol/disulphide homeostasis as a new indicator of oxidative stress in AKI patients and to determine the effect of HD on antioxidant balance and oxidative stress through plasma thiols. Methods This study was performed in patients aged between 12 months and 18 years prospectively who underwent hemodialysis due to AKI and were followed up for a year in a 22-bed tertiary pediatric intensive care unit. 20 patients and 39 controls were included. Results No difference was present between the groups in terms of age and gender. Median values of plasma native thiol, total thiol, and percent thiol were significantly lower in AKI group both before and after dialysis when compared to control group. The median dynamic disulphide values were significantly lower in the AKI group of predialysis compared to the controls. When pre- and postdialysis values were compared, disulphide values were statistically higher after dialysis. When pre- and postdialysis native thiol, dynamic disulphide, total thiol, and percent thiol median values were compared, postdialysis values were significantly higher than the predialysis values. There was a positive correlation between albumin, total thiol, and native thiol values before dialysis in the patient group. Conclusion AKI patients have low levels of thiol species showing the presence of oxidative stress and hemodialysis has a positive effect on thiol/disulphide balance. This new method may be an inexpensive and simple tool suitable for clinical studies and can be used in routine screening as a useful indicator to show oxidative stress.

Objective:To determine the indication and necessity of echocardiographic assessment and therapeutic interventions in critically ill children.Methods:A total of 140 children, including 75 mechanically ventilated (MV) and 65 spontaneously breathing (SB) children, who were admitted consecutively from March to August 2013 were evaluated prospectively. Data regarding the indication for echocardiography and therapeutic approaches used were documented. For evaluating disease severity, the Pediatric Risk of Mortality Score III (PRISM) was ascertained. The correlation between PRISM score and the requirement of echocardiographic evaluations were analyzed.Results:Patients ages were between 45 days to 18 years. The male-to-female ratio was 1.33. In 35.4% patients who underwent echocardiographic evaluation, no definitive alteration occurred in treatment approach, whereas in the remaining 64.6% patients, decisive or supplemental information was gathered. Echocardiography was indicated in 88% MV children and 46.2% SB children. Echocardiographic evaluation was necessary in MV children and there was a positive correlation between the PRISM score and the requirement of echocardiographic assessment (p<0.001).Conclusion:Echocardiographic evaluation is an invaluable tool especially in MV children and the requirement of echocardiographic assessment increases according to clinical severity. Basic training for intensivists in this procedure is crucial and needs to be improved and supported in critically ill.

Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1-6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1-4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion:Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.