A score for predicting colchicine resistance at the time of diagnosis in familial Mediterranean fever: data from the TURPAID registry.

OBJECTIVES: Colchicine forms the mainstay of treatment in FMF. Approximately 5-10% of FMF patients are colchicine resistant and require anti-IL-1 drugs. We aimed to compare the characteristics of colchicine-resistant and colchicine-responsive patients and to develop a score for predicting colchicine resistance at the time of FMF diagnosis. METHODS: FMF patients (0-18 years) enrolled in the Turkish Paediatric Autoinflammatory Diseases (TURPAID) registry were included. The predictive score for colchicine resistance was developed by using univariate/multivariate regression and receiver operating characteristics analyses. RESULTS: A total of 3445 FMF patients [256 (7.4%) colchicine-resistant and 3189 colchicine-responsive) were included (female:male ratio 1.02; median age at diagnosis 67.4 months). Colchicine-resistant patients had longer, more frequent attacks and were younger at symptom onset and diagnosis (P < 0.05). Fever, erysipelas-like erythema, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, chest pain, comorbidities, parental consanguinity and homozygosity/compound heterozygosity for exon 10 MEFV mutations were significantly more prevalent among colchicine-resistant than colchicine-responsive patients (P < 0.05). Multivariate logistic regression analysis in the training cohort (n = 2684) showed that age at symptom onset, attack frequency, arthritis, chest pain and having two exon 10 mutations were the strongest predictors of colchicine resistance. The score including these items had a sensitivity of 81.3% and a specificity of 49.1%. In the validation cohort (n = 671), its sensitivity was 93.5% and specificity was 53.8%. CONCLUSION: We developed a clinician-friendly and practical predictive score that could help us identify FMF patients with a greater risk of colchicine resistance and tailor disease management individually at the time of diagnosis.

Evaluation of pediatric rheumatologists' approach to rituximab use: a questionnaire study.

Rituximab (RTX) is a chimeric monoclonal antibody that targets the CD20 antigen on B cells and is used in various autoimmune disorders. In this study, we aimed to measure the awareness of pediatric rheumatologists about the use of RTX through a survey. Between February and March 2023, a 42-question survey was sent via email to pediatric rheumatology specialists in Turkey. The participants were questioned for which diagnoses and system involvement they preferred to use RTX, which routine tests they performed, vaccination policy, and adverse events that occurred during or after infusion. Forty-one pediatric rheumatologists answered the survey. They prescribed RTX most frequently for systemic lupus erythematosus (87.8%) and ANCA-associated vasculitis (9.8%). Prior to the administration of RTX, 95% of clinicians checked renal and liver function tests, as well as immunoglobulin levels. The most frequently tested hepatitis markers before treatment were HBsAg and anti-HBs antibody (97.6%), while 85.4% of rheumatologists checked for anti-HCV. Clinicians (31.4%) reported that they postpone RTX infusion 2 weeks following an inactivated vaccine. Sixty-one percent of rheumatologists reported starting RTX treatment 1 month after live vaccines, while 26.8% waited 6 months. The most frequent adverse events were an allergic reaction during RTX infusion (65.9%), hypogammaglobulinemia (46.3%), and rash (36.6%). In the event of hypogammaglobulinemia after RTX treatment, physicians reported that they frequently (58.5%) continued RTX after intravenous immunoglobulin administration. CONCLUSIONS: RTX has become a common treatment option in pediatric rheumatology in recent years. Treatment management may vary between clinician such as vaccination and routine tests. WHAT IS KNOWN: • During the course of rituximab therapy, clinicians should be attentive to specific considerations in pre-treatment, during administration, and in post-treatment patient monitoring. WHAT IS NEW: • There are differences in practice among clinicians in the management of RTX therapy. These practice disparities have the potential to impact the optimal course of treatment. • This study highlights that standardized guidelines are needed for RTX treatment in pediatric rheumatology, particularly for vaccination policies and routine tests.

Determinants of physical activity level in children and adolescents with juvenile idiopathic arthritis.

OBJECTIVE: One of the most frequently discussed physical parameters in juvenile idiopathic arthritis (JIA) is physical activity level. There is limited evidence about determinants of physical activity level in JIA. In this study, we aimed to investigate the determinants of physical activity level in children and adolescents with JIA. MATERIALS AND METHODS: Thirty-two JIA patients and 18 age- and sex-matched healthy individuals were included in the study. The age range was 8-18 years. Sociodemographic and clinical data of the participants were recorded. In both groups, anthropometry, fatigue, pain, knee extension muscle strength, gait variables, functional exercise capacity assessed by six-minute walk test (6MWT), and arterial stiffness were evaluated. Physical activity level was assessed by an accelerometer. RESULTS: The disease activity level of the patients was low. Pain and fatigue scores were significantly higher in the JIA group compared to healthy controls (p < 0.05). Walking speed, physical activity level, time spent in low-intensity physical activity, time spent in moderate-to-vigorous-intensity physical activity, and 6MWT distance were significantly lower than in healthy controls (p < 0.05). Quadriceps muscle strength and arterial stiffness assessment results were similar in both groups (p > 0.05). In the JIA group, there was a positive correlation between physical activity and age, height, fat-free body mass, quadriceps muscle strength, and 6MWT distance (p < 0.05). Also, there was a negative correlation between physical activity and pain, fatigue, and cadence. Physical activity level was independently associated with 6MWT distance (42.9% of the variability). CONCLUSION: In mildly affected JIA patients, gait speed, functional exercise capacity, and physical activity level are affected. Functional exercise capacity is a determinant of physical activity level in JIA.

Clinical characteristics and predictors for recurrence in chronic nonbacterial osteomyelitis: a retrospective multicenter analysis.

Background/aim: Chronic nonbacterial osteomyelitis (CNO) is a rare disease of unknown etiology and most commonly occurs during childhood or adolescence. The purpose of this study is to collect data on the clinical features, outcomes, and management of the disease and to identify the factors affecting recurrence. Materials and methods: This is a retrospective multicenter cross-sectional study of pediatric patients diagnosed with CNO. A total of 87 patients with a diagnosis of CNO followed for at least 6 months in 8 pediatric rheumatology centers across the country between January 2010 and December 2021 were included in this study. Results: The study included 87 patients (38 girls, 49 boys; median age: 12.5 years). The median follow-up time was 20 months (IQR: 8.5-40). The median time of diagnostic delay was 9.9 months (IQR: 3-24). Arthralgia and bone pain were the most common presenting symptoms. Multifocal involvement was detected in 86.2% of the cases and a recurrent course was reported in one-third of those included in the study. The most commonly involved bones were the femur and tibia. Vertebrae and clavicles were affected in 19.5% and 20.6% of cases, respectively. The erythrocyte sedimentation rate (ESR) values of 60.9% of the patients were above 20 mm/h and the C-reactive protein values of 44.8% were above 5 mg/L. The remission rate was 13.3% in patients using nonsteroidal antiinflammatory drugs and 75.0% in those using biological drugs. Vertebral and mandibular involvement and high ESR values at the time of diagnosis were associated with recurrence. Conclusion: In this multicenter study, CNO with vertebral and mandibular involvement and high ESR at diagnosis were associated with recurrence.

Daily Practice of Mechanical Ventilation and Weaning in Turkish PICUs: A Multicenter Prospective Survey.

OBJECTIVES: To investigate conventional mechanical ventilation weaning characteristics of patients requiring conventional mechanical ventilation support for greater than 48 hours within the PICU. DESIGN: The prospective observational multicenter cohort study was conducted at 15 hospitals. Data were being collected from November 2013 to June 2014, with two designated researchers from each center responsible for follow-up and data entry. SETTING: Fifteen tertiary PICUs in Turkey. PATIENTS: Patients between 1 month and 18 years old requiring conventional mechanical ventilation for greater than 48 hours were included. A single-center was not permitted to surpass 20% of the total sample size. Patients with no plans for conventional mechanical ventilation weaning were excluded. INTERVENTIONS: Conventional mechanical ventilation MEASUREMENTS AND MAIN RESULTS:: Pertinent variables included PICU and patient demographics, including clinical data, chronic diseases, comorbid conditions, and reasons for intubation. Conventional mechanical ventilation mode and weaning data were characterized by daily ventilator parameters and blood gases. Patients were monitored until hospital discharge. Of the 410 recruited patients, 320 were included for analyses. A diagnosis of sepsis requiring intubation and high initial peak inspiratory pressures correlated with a longer weaning period (mean, 3.65 vs 1.05-2.17 d; p < 0.001). Conversely, age, admission Pediatric Risk of Mortality III scores, days of conventional mechanical ventilation before weaning, ventilator mode, and chronic disease were not related to weaning duration. CONCLUSIONS: Pediatric patients requiring conventional mechanical ventilation with a diagnosis of sepsis and high initial peak inspiratory pressures may require longer conventional mechanical ventilation weaning prior to extubation. Causative factors and optimal weaning for this cohort needs further consideration.

Risk factors for recurrent central line-associated bloodstream infections in a pediatric intensive care unit

Background/aim: It is recommended that a central venous catheter (CVC) be removed if central line-associated bloodstream infection (CLABSI) has been diagnosed. The objective of this retrospective study was to evaluate the risk factors for recurrent CLABSI in reinserted catheters in a pediatric intensive care unit. Materials and methods: Patients with recurrent and nonrecurrent CLABSI were compared in terms of the catheter exchange interval, the interval between negative blood culture and reinsertion of the CVC, and the pre-/reinsertion treatment duration. Results: Thirty-one patients with initial CLABSI had reinserted CVCs, and 12 (38.7%) of these patients were diagnosed with recurrent CLABSI. In the recurrent group, the catheter exchange interval, the interval between negative blood culture and reinsertion of the second CVC, and pre-/reinsertion treatment duration were found to be shorter. Logistic regression analysis revealed that if the interval between negative blood culture and reinsertion of the second CVC was shorter than 4 days, recurrent CLABSI risk increased by 1.7-fold (P = 0.021). Sterile gauze-dressed patients had shorter cumulative catheter surveys than the polyurethane-dressed patients (P = 0.005). Conclusion: Using transparent polyurethane dressings instead of sterile gauze for maintaining the CVC and delaying the reinsertion procedure for at least 4 days after the negative culture might be helpful in preventing recurrent CLABSI.

Guillain-Barre syndrome in a 7-month-old boy successfully applied plasma exchange.

Despite being the most common cause of acute flaccid paralysis in children Guillain-Barré syndrome has a low incidence under 18 years old, and is even rarer under the age of 2. Established treatment regimens include intravenous immunoglobulin and plasma exchange in older children and adults. However very limited data are available for the efficacy and safety of plasma exchange in infants younger than 12 month-old. This article presents the experience of plasma exchange in the case of 7-month-old boy diagnosed with Guillain-Barré syndrome. A 7-month-old boy was referred to the pediatric intensive care unit with a 10-day history of progressive weakness, feeding difficulty and constipation. He was diagnosed with axonal Guillain-Barré syndrome on the basis of clinical and electromyographical findings. The patient recovered fully with intravenous immunoglobulin and plasma exchange. Plasma exchange may be a safe option in the treatment in infants with Guillain-Barré syndrome as young as 7-month-age.

A Valuable Tool in Predicting Poor Outcome due to Sepsis in Pediatric Intensive Care Unit: Tp-e/QT Ratio.

OBJECTIVE: To assess the feasibility of 12-lead electrocardiographic (ECG) measures such as P wave dispersion (PWd), QT interval, QT dispersion (QTd), Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in predicting poor outcome in patients diagnosed with sepsis in pediatric intensive care unit (PICU). METHODS: Ninety-three patients diagnosed with sepsis, severe sepsis or septic shock and 103 age- and sex-matched healthy children were enrolled into the study. PWd, QT interval, QTd, Tp-e interval and Tp-e/QT, Tp-e/QTc ratios were obtained from a 12-lead electrocardiogram. RESULTS: PWd, QTd, Tp-e interval and Tp-e/QT, Tp-e/QTc ratios were significantly higher in septic patients compared with the controls. During the study period, 41 patients had died. In multivariate logistic regression analyses, only Tp-e/QT ratio was found to be an independent predictor of mortality. CONCLUSION: The ECG measurements can predict the poor outcome in patients with sepsis. The Tp-e/QT ratio may be a valuable tool in predicting mortality for patients with sepsis in the PICU.

Can mean platelet volume be used as a biomarker for asthma?

INTRODUCTION: Platelets play important roles in airway inflammation and are activated in inflammatory lung diseases, including asthma. AIM: We evaluated the mean platelet volume (MPV), used as a marker of platelet activation, in asthmatic patients during asymptomatic periods and exacerbations compared to healthy controls to determine whether MPV can be used as an indicator of inflammation. MATERIAL AND METHODS: Our patient group consisted of 95 children with exacerbation of asthma who were admitted to our allergy clinic. The control group consisted of 100 healthy children matched for age, gender, and ethnicity. Mean platelet volume values of the patient group obtained during exacerbation of asthma were compared to those of the same group during the asymptomatic period and with the control group. We investigated factors that can affect the MPV values of asthma patients, including infection, atopy, immunotherapy treatment, and severity of asthma exacerbation. RESULTS: The patient group consisted of 50 (52.6%) boys and 45 (47.4%) girls with a mean age of 125 ±38 months old. Mean MPV values in the exacerbation period, the healthy period, and in the control group were 8.1 ±0.8 fl, 8.1 ±1.06 fl, and 8.2 ±0.9 fl, respectively; there were no significant differences between groups (p > 0.05). The severity of asthma, severity of asthma exacerbation, immunotherapy, coinfection, eosinophil count, and IgE level also had no effect on MPV (p > 0.05). CONCLUSIONS: Although platelets play a role in the pathophysiology of asthma, MPV measurement is insufficient to detect inflammation through platelets.

Towards a standardized program of transitional care for adolescents with juvenile idiopathic arthritis for Turkey: a national survey study.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a prevalent childhood chronic arthritis, often persisting into adulthood. Effective transitional care becomes crucial as these patients transition from pediatric to adult healthcare systems. Despite the concept of transitional care being recognized, its real-world implementation remains inadequately explored. This study aims to evaluate the thoughts and practices of healthcare providers regarding transitional care for JIA patients. METHODS: A cross-sectional survey was conducted among pediatric and adult rheumatologists in Turkey. Based on the American Academy of Pediatrics' six core elements of transitional care, the survey included 86 questions. The respondents' demographic data, attitudes towards transitional care, and practical implementation were assessed. RESULTS: The survey included 48 rheumatologists, with 43.7% having a transition clinic. The main barriers to establishing transition programs were the absence of adult rheumatologists, lack of time, and financial constraints. Only 23.8% had a multidisciplinary team for transition care. Participants agreed on the importance of coordination and cooperation between pediatric and adult healthcare services. The timing of the transition process varied, with no consensus on when to initiate or complete it. Participants advocated for validated questionnaires adapted to local conditions to assess transition readiness. CONCLUSIONS: The study sheds light on the challenges and perspectives surrounding transitional care for JIA patients in Turkey. Despite recognized needs and intentions, practical implementation remains limited due to various barriers. Cultural factors and resource constraints affect the transition process. While acknowledging the existing shortcomings, the research serves as a ground for further efforts to improve transitional care and ensure better outcomes for JIA patients transitioning into adulthood.

Pediatric Behçet's disease: Experience of a single tertiary center.

Objectives: The aim of this study was to examine the clinical and phenotypic features of pediatric Behçet's disease (PEDBD) in our clinic and present the rates of fulfilling the diagnostic criteria. Patients and methods: Thirty-four patients (20 males, 14 females; mean age: 16.0±2.1 years; range, 10 to 18 years) diagnosed with PEDBD between January 2010 and December 2019 were retrospectively evaluated. Patients were reclassified according to 1990 International Study Group (ISG) criteria, 2014 International Criteria for Behçet's Disease (ICBD), and PEDBD criteria. Results: The mean age at diagnosis was 12.6±3.1 years, the median diagnosis delay time was 12.0 (range, 4.5 to 27.0) months, and the mean age at symptom onset was 10.8±2.9 years. The mean follow-up period was 31.9±20.9 months. Oral aphthous ulcer was observed in 33 (97.1%), genital ulcer in 16 (47.0%), ocular involvement in 15 (44.1%), skin lesion in 11 (32.3%), joint involvement in nine (26.4%), both vascular and neurological involvement in six (17.6%) patients. The pathergy test was positive in 11 (37.8%) patients, and human leukocyte antigen (HLA)-B51 was positive in 11 (78.5%) of 14 patients. The rates of patients meeting the criteria for ISG, ICBD, and PEDBD were 52.9%, 82.4%, and 50.0%, respectively. Conclusion: Pathergy and HLA-B51 can be used as supportive findings in patients who do not meet the diagnostic criteria. However, expert opinion is still the gold standard in diagnosis.

Risk of flare in juvenile idiopathic arthritis: Is it related to the methotrexate treatment strategy or patient characteristics?

Objectives: The study aimed to determine the factors that increase the risk of disease flare in patients with juvenile idiopathic arthritis who stopped methotrexate (MTX) monotherapy following inactive disease (ID). Patients and methods: In the retrospective study, files of all juvenile idiopathic arthritis cases between April 1992 and June 2022 were examined. Patients who stopped MTX monotherapy following ID were evaluated. Patients with disease flare and persistent ID were compared. Juvenile idiopathic arthritis subgroup, age of symptom onset, autoantibodies, acute phase reactants, MTX method of use, and withdrawal strategy were recorded. Systemic juvenile idiopathic arthritis patients were excluded from the study due to different clinical symptoms, diagnosis, and treatment methods. Results: Files of 1,036 patients were evaluated, and 107 patients (88 females, 19 males; mean age: 5.9±4.2 years; range, 0.8-16.5 years) were included in the study. The median age at symptom onset was 4.8 (interquartile range [IQR]: 2-7.6) years. In terms of juvenile idiopathic arthritis subgroups, 52 (48.6%) had oligoarticular juvenile idiopathic arthritis, 43 (40.2%) had polyarticular juvenile idiopathic arthritis, and 12 (11.2%) had juvenile psoriatic arthritis. The patients reached ID in nine (IQR: 4.8-17.7) months after starting MTX, and MTX treatment was discontinued after one (IQR: 0.7-1.3) year following ID. The disease flare developed in 59 (55%) of the cases. The ID continued in 48 (45%) patients. In multivariate analysis, the risk of flare was associated with younger symptom onset (odds ratio [OR]=2.2, p=0.006), antinuclear antibody positivity (OR=1.6, p=0.03), higher erythrocyte sedimentation rate (OR=1.01, p=0.04), and C-reactive protein (OR=1, p=0.02) at the MTX onset. No difference was observed between the two groups regarding MTX dose, route of administration, prior and concomitant treatments, time to reach ID, and time and method of MTX discontinuation. Conclusion: In this study, the risk of flare was associated with patient's characteristics, rather than the administration and discontinuation method of MTX.

Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study.

INTRODUCTION: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). AIM: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. METHODS: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. RESULTS: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. CONCLUSION: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed.

Surface TREM-1 as a Prognostic Biomarker in Pediatric Sepsis.

OBJECTIVES: To investigate the association between the triggering receptor expressed on myeloid cells-1 (TREM-1) levels and prognosis in septic children. METHODS: Patients admitted to pediatric intensive care units (PICU) of three tertiary centers were included in this prospective observational study. Serum samples were taken at admission from patients who were hospitalized with sepsis. RESULTS: Of the 87 patients included, 34 (39.1%) had severe sepsis and 53 (60.9%) had septic shock. The median age was 2 y (2 mo to 16 y). TREM-1 values were found to be significantly higher in septic shock patients 129 pg/ml (min 9.85- max 494.90) compared to severe sepsis 105 pg/ml (min 8.21- max 289.17) (p = 0.048). Despite higher TREM-1 levels been measured in non-survivors compared to survivors, it was not statistically significant [168.98 pg/ml (min 9.85- max 494.90) vs. 110.79 pg/ml (min 8.21- max 408.90), (p = 0.075)]. CONCLUSIONS: Admission TREM-1 levels were higher in septic shock compared to severe sepsis patients. There was no association between mortality and TREM-1 levels in sepsis. TREM-1 measurements should be used carefully in pediatric sepsis prognosis.

Distribution of spreading viruses during COVID-19 pandemic: Effect of mitigation strategies.

BACKGROUND: The study aimed to evaluate the distribution of circulating respiratory viral pathogens other than severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) during the first year of the coronavirus disease-2019 (COVID-19) pandemic with especially focusing on the effects of the national-based mitigation strategies. METHODS: This single-center study was conducted between March 11, 2020-March 11, 2021. All children who were tested by polymerase chain reaction on nasopharyngeal swabs for SARS-CoV-2 and other common respiratory viral pathogens were included in the study. RESULTS: A total of 995 children with suspected COVID-19 admitted to the study center. Of these, 513 patients who were tested by polymerase chain reaction for both SARS-CoV-2 and common respiratory viral pathogens were included in the final analysis. Two hundred ninety-five patients were (57.5%) male. The median age was 3 years of age (27 days-17 years). A total of 321 viral pathogens identified in 310 (n: 310/513, 60.4%) patients, and 11 of them (n: 11/310, 3.5%) had co-detection with more than 1 virus. The most common detected virus was rhinovirus (n: 156/513, 30.4%), and SARS-CoV-2 (n: 122/513, 23.8%) followed by respiratory syncytial virus (n: 18/513, 3.5%). The influenza virus was detected in 2 patients (0.4%). A total of 193 patients were negative for both SARS-CoV-2 and other pathogens. CONCLUSIONS: There is a decline in the frequency of all viral pathogens like SARS-CoV-2 in correlation with the national-based mitigation strategies against COVID-19 during the pandemic.

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene. Case presentation 4-month-old twins were admitted with fever, respiratory distress, vomiting, diarrhea, and failure to thrive. Physical examination findings revealed developmental delay and hypotonia with no head control, and laboratory findings were severe anemia, neutropenia, and hypogammaglobulinemia. Despite normal vitamin B12 and folate levels, homocysteine and urine methylmalonic acid levels were elevated in both patients. Bone marrow examinations revealed hypocellular bone marrow in both cases. The patients had novel pathogenic homozygous c.241C>T (p.Gln81Ter) variant in the TCN2 gene. In both cases, with intramuscular hydroxycobalamin therapy, laboratory parameters improved, and a successful clinical response was achieved. Conclusions In infants with pancytopenia, growth retardation, gastrointestinal manifestations, and immunodeficiency, the inborn error of cobalamin metabolism should be kept in mind. Early diagnosis and treatment are crucial for better clinical outcomes. What is new? In literature, to date, less than 50 cases with TC deficiency were identified. In this report, we presented twins with TCN2 gene mutation. Both patients emphasized that early and aggressive treatment is crucial for achieving optimal outcomes. In this report, we identified a novel variation in TCN2 gene.

A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey.

BACKGROUND: Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely. CASE: In this article, we presented a 26-month-old patient who was admitted with an acute rhabdomyolysis attack and a venovenous hemodiafiltration (CVVHDF) was initiated on the 5th hour of hospitalization. Creatine kinase (CK) levels of the patient continued to increase (max: 943 452 IU/L) until the 5th day of treatment and hereafter began to decrease. As the common causes of rhabdomyolysis were excluded and the CK levels were the highest values reported in the literature, although, LPIN1 deficiency was the most suspected diagnosis, to facilitate the diagnostic procedures a whole-exome sequencing was performed. A homozygous [c.1696G > C p. (Asp566His)] mutation was detected on LPIN1 gene. This variant has not been described previously, however, when examined with programs such as SIFT and Mutation taster, it has been considered as pathogenic. CONCLUSION: In the pediatric age group, especially in infants presenting with severe rhabdomyolysis, LPIN1 deficiency should also be considered; as early diagnosis and appropriate treatment may reduce mortality.

Pediatricians' Attitude in Management of Acute Bronchiolitis: Did Guidelines Overcome Practices?

Background: Acute bronchiolitis is one of the most common diseases of early childhood. There are many recent changes in the treatment of acute bronchiolitis. The aim of this study is to evaluate treatment approaches to acute bronchiolitis among clinicians and to observe compliance with clinical guidelines. Materials and Methods: Our study was designed as a multicenter cross-sectional descriptive study. A cohort of pediatric residents, fellows, and attendants were surveyed with a questionnaire including general and occupational characteristics of pediatricians and treatment choices in acute bronchiolitis. Results: A total of 713 questionnaires were collected. Most commonly applied treatment among pediatricians was inhaled salbutamol, followed by intravenous hydration, hypertonic saline, and inhaled steroid. Most commonly preferred treatment in the management of mild bronchiolitis was oral hydration and inhaled salbutamol in severe bronchiolitis. Conclusion: Although recent guidelines for the treatment of acute bronchiolitis does not support the use of many different therapies, pediatricians still tend to use them, especially bronchodilators, corticosteroids, and antibiotics.

New parameters for childhood ventilator associated pneumonia diagnosis.

PURPOSE: Our aim is to determine whether the presence of soluble triggering receptor expressed on myeloid cells-1 (s-TREM-1) of bronchoalveolar lavage fluid (BALF), serum procalcitonin levels (PCT), and Clinical Pulmonary Infection Score (CPIS) have diagnostic value in children with VAP. METHODS: All children followed in pediatric intensive care unit (PICU) who were mechanically ventilated at least for 48 hr between January 2014 and December 2015 were enrolled into our study. BALF sample was obtained via non-bronchoscopic method from the children with VAP suspicion (case group) and s-TREM-1 levels were measured. Furthermore we calculated CPIS and measured serum PCT levels. Same procedures were applied to the control group who were admitted to PICU without infectious problems and who were not under antimicrobial therapy. First we compared the case group with the control group and then we compared the quantitative culture confirmed and non-confirmed VAP cases among themselves. RESULTS: Case group (n:58) had significant higher PCT and s-TREM-1 levels compared to control group (n:58). The VAP confirmed cases had higher s-TREM-1, PCT ve CPIS levels compared to non-confirmed VAP cases. s-TREM-1, PCT ve CPIS variables were found to be independent risk factors for VAP. The cutoff values for s-TREM-1, CPIS, and PCT, are 281 pg/ml, 6, and 1.9 ng/ml, respectively. The patients whose s-TREM-1, CPIS, and PCT values above the cutoff levels were found to have higher cumulative VAP rate. CONCLUSIONS: s-TREM-1 of BALF, serum PCT levels, and CPIS are useful predictors for ventilator-associated pneumonia diagnosis in children. Pediatr Pulmonol. 2017;52:119-128. © 2016 Wiley Periodicals, Inc.

A Comparison of Intravenous Levetiracetam and Valproate for the Treatment of Refractory Status Epilepticus in Children.

Because of the lack of studies comparing the efficacy and safety of levetiracetam and valproate before the induction of general anesthesia in the treatment of convulsive refractory status epilepticus in children, we aimed to compare the effectiveness of these antiepileptic drugs in patients with convulsive status epilepticus admitted to the Pediatric Intensive Care Unit between 2011 and 2014. Forty-six (59%) of the 78 patients received levetiracetam, and 32 (41%) received valproate for the treatment of refractory status epilepticus. The response rate was not significantly different between the 2 groups. Although no adverse event was noted in patients who received levetiracetam, 4 (12.5%) patients in the valproate group experienced liver dysfunction (P = .025). According to our results, levetiracetam and valproate may be used in the treatment of refractory status epilepticus before the induction of general anesthesia. Levetiracetam appears as effective as valproate, and also safer.