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1.
J Pediatr Orthop B ; 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-38259114

RESUMO

Nursemaid elbow is subluxation of the radius head seen in early childhood. The aim of this study was to examine the epidemiology of recurrent dislocations and the effect of hyperlaxity and bone anatomy on recurrent dislocations in these injuries, for which the pathogenesis has not been fully clarified. The study included a total of 329 paediatric patients who presented at the Paediatric Emergency Department (ED) between January 2016 and December 2022, and were diagnosed with Nursemaid Elbow. On presentation at ED, two-directional elbow radiographs were taken of all the patients and the radius head-neck ratio was measured on the lateral elbow radiograph. The Beighton score of joint hyperlaxity was evaluated in all the patients with a history of recurrent dislocation. A statistically significant difference was determined between the Beighton score groups in respect of the number of dislocations in multiple dislocations (P = 0.002). No statistically significant relationship was determined between the number of dislocations and the lateral radius head/neck ratio (P = 0.061). Hyperlaxity syndrome should be kept in mind in the aetiology of multiple dislocations.

2.
Noro Psikiyatr Ars ; 60(2): 158-168, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37287550

RESUMO

Introduction: This study aimed to demonstrate the validity of the Ask Suicide-Screening Questions (ASQ) in a clinical sample consisting of adolescents admitted to child and adolescent psychiatry (CAP), and then to confirm its validation in those presenting to the pediatric emergency department (PED), which was the main target group for the study. Method: This cross-sectional study evaluated the compatibility of the ASQ with the suicide probability scale, which is a standardized measure, to identify cases with suicide risk in 248 adolescents aged 10-18 years. To demonstrate the clinical validity of the scale, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (PLR), negative likelihood ratio (NLR), Kappa, and area under the curve (AUC) performance metrics and 95% confidence interval (CI) values were calculated. Results: Positive screening rate, sensitivity, specificity, PPV and NPV for the CAP patients were calculated as 31.8%, 100% (95% CI: 100.0-100.0), 70.9% (95% CI: 63.4-78.4), 12.8% (95% CI: 3.2-22.3) and 100% (95% CI: 100.0-100.0), respectively. The PLR and AUC were calculated as 3.4% (95% CI: 2.7-4.5) and 0.855 (95% CI: 0.817-0.892), respectively. Positive screening rate, sensitivity, specificity, PPV and NPV for the PED patients were calculated as 28%, 100% (95% CI: 100.0-100.0), 75.3% (95% CI: 66.3-84.2), 21.4% (95% CI: 6.2-36.6) and 100% (95% CI: 100.0-100.0), respectively. The PLR, Kappa and AUC were 4.05% (95% CI: 2.82-5.81), 0.278 and 0.876 (95% CI: 0.832-0.921), respectively. Conclusion: This study showed the first evidence that Turkish adaptation of the ASQ is a valid screening tool for identifying those at risk of suicide among adolescents who applied to the CAP and PED.

3.
Turk Arch Pediatr ; 58(2): 189-196, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36856357

RESUMO

OBJECTIVE: This study aimed to evaluate the characteristics of patients admitted to a pediatric intensive care unit for poisoning and the factors associated with their outcomes. MATERIALS AND METHODS: Patients who were admitted to the pediatric intensive care unit for poisoning over the 11-year period between January 2010 and December 2020 were retrospectively analyzed. The patients' demographic characteristics, poisoning agent, whether the poisoning was unintentional or intentional (suicide attempt), clinical findings at admission, indication for hospitalization, antidote administered, and supportive and extracorporeal treatments were examined. RESULTS: During the study period, poisonings accounted for 9.4% (436/4653) of pediatric intensive care unit admissions. Of these, 419 patients with complete records were included in the analysis. Drug poisonings accounted for 81.9% of cases (multiple drugs in 38.5%). The most common drug group was central nervous system drugs (47%). Of the symptomatic patients, 56.5% had central nervous system-related findings and 55% had gastrointestinal findings. Before pediatric intensive care unit admission, 52.7% of the patients received activated charcoal and 7.4% received antidote therapy. In the pediatric intensive care unit, 68.9% of patients received no medical treatment, while 71.5% of those who received medical treatment had organ involvement. Multivariate logistic regression analysis to predict whether patients will require treatment during the intensive care follow-up showed that antidote administration before pediatric intensive care unit admission was associated with the need for medical treatment (odds ratio: 25.6, 95% CI: 6.8-96, P < .05). Three patients died, and the mortality rate was 0.72%. CONCLUSION: Childhood poisoning is a widespread and important problem. Effective management in pediatric emergency and intensive care units contributes to patient survival without sequelae.

4.
Pediatr Emerg Care ; 39(1): 28-32, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-35580177

RESUMO

BACKGROUND: The intensity of emergency services is an increasing health problem all over the world, necessitating an effective triage system. The aim of this study was to evaluate the validity and reliability of the "ANKUTRIAGE" in children. METHODS: This prospective, longitudinal study was carried out at a pediatric emergency department. ANKUTRIAGE, a 5-level computer-aided triage decision support system, was developed. Patients younger than 18 years who do not need emergency intervention, who had complete vital sign measurements, who gave consent for the study, and who were admitted to the emergency service during working hours with trained personnel were included. For validity, agreement between the urgency levels determined by ANKUTRIAGE and the reference triage systems: Pediatric Canadian Triage and Acuity Scale and Emergency Severity Index, was evaluated. In addition, the association of urgency levels with clinical outcomes was studied. To assess reliability, patients were evaluated by 2 blinded healthcare professionals using ANKUTRIAGE and a quadratic weighted κ was estimated. RESULTS: A total of 1232 children with a median age of 4.00 years were included. ANKUTRIAGE acuity levels significantly correlated with the number of resources used, the number of patients undergoing life-saving procedures, pediatric intensive care unit, and overall hospitalization rates, respectively ( P < 0.001, P < 0.001, P < 0.001, P < 0.001). The agreement of ANKUTRIAGE with Pediatric Canadian Triage and Acuity Scale was found to be 0.94 (95% confidence interval [CI], 0.93-0.94), with an Emergency Severity Index of 0.75 (95% CI, 0.70-0.80). The interrater agreement between 2 evaluators who used ANKUTRIAGE reflected as excellent consistency 0.92 (95% CI, 0.89-0.95; κ > 0.8). CONCLUSIONS: ANKUTRIAGE demonstrated high agreement with clinical outcomes and with proven triage systems and reflected high reliability between users. ANKUTRIAGE will enable a more standardized and practical triage, especially in crowded pediatric emergency departments and in situations where triage is performed by health professionals with different experience and professions.


Assuntos
Serviço Hospitalar de Emergência , Triagem , Criança , Humanos , Pré-Escolar , Triagem/métodos , Estudos Prospectivos , Reprodutibilidade dos Testes , Estudos Longitudinais , Canadá
5.
Turk J Pediatr ; 64(6): 971-984, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36583879

RESUMO

BACKGROUND: A significant number of children are injured by or die from firearm-related incidents every year, although there is a lack of global data on the number of children admitted to pediatric emergency departments (PEDs) and pediatric intensive care units (PICU) with firearm injuries. This study is the most comprehensive analysis of firearm injuries sustained by children in Turkey to date. METHODS: This multicenter, retrospective, cohort study was conducted between 2010 and 2020 with the contributions of the PEDs, PICUs, intensive care units, and surgery departments of university hospitals and research hospitals. RESULTS: A total of 508 children were admitted to hospital with firearm-related injuries in the research period, although the medical records of only 489 could be obtained. Of the total admissions to hospitals, 55.0% were identified as unintentional, 8.2% as homicide, 4.5% as self-harm, and 32.3% as undetermined. The Glasgow Coma Scale (GCS) and ventilation support were found to be the most significant predictors of mortality, while head/neck injury, length of stay (LOS) in the hospital and surgical interventions were found to be the most significant predictors of disability. The overall mortality of firearm-related injuries was 6.3%, and the mortality for children admitted to the PICU was 19.8%. The probability of disability was calculated as 96.0% for children hospitalized with firearm injuries for longer than 75 days. CONCLUSIONS: Head/neck injury, LOS in the hospital, and surgical interventions were found to be the most significant parameters for the prediction of disability. Hospitalization exceeding 6 days was found to be related to disability.


Assuntos
Armas de Fogo , Lesões do Pescoço , Ferimentos por Arma de Fogo , Criança , Humanos , Lactente , Ferimentos por Arma de Fogo/epidemiologia , Ferimentos por Arma de Fogo/terapia , Estudos de Coortes , Estudos Retrospectivos , Turquia/epidemiologia , Unidades de Terapia Intensiva Pediátrica
6.
Pediatr Emerg Care ; 38(10): 489-493, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36018729

RESUMO

OBJECTIVES: Colchicine intoxication is rare but potentially fatal. The toxic dose of colchicine is not well established; it has been reported that major toxicity starts after doses of 0.5 mg/kg. We aimed to evaluate the demographic, clinical aspects, treatments, and outcome of colchicine toxicity cases in the pediatric intensive care unit (PICU). METHODS: We collected the data of patients aged between 0 and 18 years, admitted to Ankara University Faculty of Medicine PICU for colchicine poisoning (n = 22), from October 1999 to January 2020, retrospectively. Data extracted from the cases included age, sex, chronic condition, time between intake of drug and admission to PICU, source of drug, amount of drug ingested, other drug intake, symptoms, clinical findings, cardiac involvement, laboratory results, time of stay in PICU, treatment, and outcome. RESULTS: Patients' age ranged from 7 months to 17 years. Median age was 86 months. The most common symptom at time of admission was vomiting, occurring in 13 (59%) of the patients. Two of the patients presented with change in mental status. Time between taking medication and applying to the hospital ranged from half an hour to 4 days. Medication intake of 3 of 22 patients was more than 0.5 mg/kg. One patient whose parents' best estimate of dose ingested was 0.48 mg/kg died because of the development of multiorgan failure. One patient who ingested 0.4 mg/kg of colchicine underwent plasma exchange and recovered without any complications. CONCLUSIONS: Colchicine poisoning has a high risk of mortality, and death can be seen in doses less than a single acute dose of 0.5 mg/kg. These patients need close monitoring because there is always a risk of them to require aggressive support. Prognosis is poor in patients who have rapidly developing hemodynamic failure.


Assuntos
Unidades de Terapia Intensiva Pediátrica , Intoxicação , Adolescente , Criança , Pré-Escolar , Colchicina , Humanos , Lactente , Recém-Nascido , Intoxicação/epidemiologia , Intoxicação/terapia , Prognóstico , Estudos Retrospectivos , Vômito
8.
Cardiol Young ; : 1-5, 2022 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-34986921

RESUMO

OBJECTIVE: We aimed to evaluate the efficacy and role of high-sensitivity troponin T in children with a confirmed SARS-CoV-2 infection and also the correlation of troponin T levels with symptoms, and echocardiographic findings were analysed. METHODS: Two hundred and fourteen patients with a confirmed SARS-CoV-2 infection between the dates of 28 March and 15 August 12020 were enrolled in this retrospective single-centre study. Patients with comorbidities and diagnosed as multisystem inflammatory syndrome in children were excluded. Demographic data, clinical and laboratory parameters were evaluated. The patients were classified and compared according to the troponin positivity. The correlation of troponin T with symptoms and echocardiographic findings was analysed. RESULTS: The most common symptoms in the whole study group were fever (53.3%) and cough (24.8%). Troponin T levels were elevated in 15 (7%) patients. The most common symptom in patients with troponin positivity was also fever (73.3%). Troponin T positivity was significantly higher in patients under the age of 12 months and troponin T levels were negatively correlated with age. C-reactive protein levels were elevated in 77 (36%) of the patients in the whole group and 7 (46.7%) of 15 patients with troponin positivity. C-reactive protein levels were similar between groups. CONCLUSION: Routine troponin screening does not yield much information in previously healthy paediatric COVID-19 patients without any sign of myocardial dysfunction. Elevated troponin levels may be observed but it is mostly a sign of myocardial injury without detectable myocardial dysfunction in this group of patients.

9.
Int J Clin Pract ; 75(12): e14978, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34669998

RESUMO

AIM OF THE STUDY: Successful cardiopulmonary resuscitation and early defibrillation are critical in survival after in- or out-of-hospital cardiopulmonary arrest. The scope of this multi-centre study is to (a) assess skills of paediatric healthcare providers (HCPs) concerning two domains: (1) recognising rhythm abnormalities and (2) the use of defibrillator devices, and (b) to evaluate the impact of certified basic-life-support (BLS) and advanced-life-support (ALS) training to offer solutions for quality of improvement in several paediatric emergency cares and intensive care settings of Turkey. METHODS: This cross-sectional and multi-centre survey study included several paediatric emergency care and intensive care settings from different regions of Turkey. RESULTS: A total of 716 HCPs participated in the study (physicians: 69.4%, healthcare staff: 30.6%). The median age was 29 (27-33) years. Certified BLS-ALS training was received in 61% (n = 303/497) of the physicians and 45.2% (n = 99/219) of the non-physician healthcare staff (P < .001). The length of professional experience had favourable outcome towards an increased self-confidence in the physicians (P < .01, P < .001). Both physicians and non-physician healthcare staff improved their theoretical knowledge in the practice of synchronised cardioversion defibrillation (P < .001, P < .001). Non-certified healthcare providers were less likely to manage the initial doses of synchronised cardioversion and defibrillation: the correct responses remained at 32.5% and 9.2% for synchronised cardioversion and 44.8% and 16.7% for defibrillation in the physicians and healthcare staff, respectively. The indications for defibrillation were correctly answered in the physicians who had acquired a certificate of BLS-ALS training (P = .047, P = .003). CONCLUSIONS: The professional experience is significant in the correct use of a defibrillator and related procedures. Given the importance of early defibrillation in survival, the importance and proper use of defibrillators should be emphasised in Certified BLS-ALS programmes. Certified BLS-ALS programmes increase the level of knowledge and self-confidence towards synchronised cardioversion-defibrillation procedures.


Assuntos
Reanimação Cardiopulmonar , Cardioversão Elétrica , Adulto , Criança , Estudos Transversais , Pessoal de Saúde , Humanos , Turquia
11.
Turk J Surg ; 37(4): 318-323, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35677491

RESUMO

Objectives: Appendicitis is a common surgical emergency among children. The coronavirus pandemic affected the system of hospitals more than any other field, and great amount of people were concerned about visiting the hospitals for any reason. In this study, it was aimed to evaluate the profile of appendicitis by emphasizing perforated and acute appendicitis in the pandemic period and to compare the rates with previous three years. Material and Methods: Charts of the children who underwent laparoscopic appendectomy due to appendicitis between March 11-September 30 between 2017-2020 were retrospectively analyzed in terms of demographic data, duration of symptoms, duration between hospital admission and surgery, radiologic imaging and perioperative outcomes. Results: This study includes 467 children who underwent laparoscopic appendectomy. There were 97 procedures in 2020, 111 in 2019, 146 in 2018 and 113 in 2017. Multiple comparison tests revealed that age did not show difference; but onset of symptoms in admission (p= 0.004), hospitalization time before surgery (p <0.001), total hospitalization time (p <0.001) showed statistically significant difference between years. Pairwise comparisons showed that these parameters were increased in 2020 compared to other years. Perforated appendicitis rate was significantly increased in 2020 when compared to previous years. Conclusion: Although there is no direct relation between appendicitis and COVID-19 infection in the current knowledge, perforated appendicitis was found to be increased in children during the COVID pandemic. Reason of the higher rate of perforated appendicitis may be multifactorial; however, the pandemic appears to have a role in increased morbidity in children with appendicitis indirectly due to delay of hospital admissions.

12.
Turk Arch Pediatr ; 56(6): 591-595, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35110058

RESUMO

OBJECTIVES: In this study, we aimed to evaluate the clinical and laboratory features of the patients with rotavirus (RV) antigen positivity on or following admission to the pediatric intensive care unit (PICU). METHODS: Patients admitted to the PICU due to community-acquired rotavirus (CA-RV) or hospital-acquired rotavirus (HA-RV)-induced gastroenteritis between January 1, 2013, and December 31, 2019 were evaluated. RESULTS: Thirty-four patients with a mean age of 14.00 ± 19.17 months were enrolled. Fortyfour percent were girls. Twenty (58.8%) patients had a history of chronic diseases. Nine (26.5%) patients had CA-RV and 25 (73.5%) patients had HA-RV infection. RV antigens were simultaneously found in 44.1% (n = 14) of the other patients at the time of diagnosis. In the study sample, 5 patients had hyponatremia, 8 had hypernatremia, 6 had hypokalemia, 4 had hypoalbuminemia, 21 had leukocytosis, 2 had leukopenia and 3 had thrombocytopenia, and 17 had elevatedC-reactive protein (CRP) levels. Three patients had seizures, 1 patient had cardiac arrest, and 2 patients had secondary bacteremia. The mean (SD) PICU length of stay was 6 (6.02) with CA-RV gastroenteritis. All CA-RV patients survived, but 8 of the HA-RV patients succumbed to causes other than RV. CONCLUSION: RV-related PICU admission is not rare, and occasional severe clinical consequences occur, especially in young children, with both CA-RV and HA-RV gastroenteritis. Appropriate timely intervention and meticulous follow-up improve survival.

13.
Turk J Pediatr ; 62(3): 495-497, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32558427

RESUMO

BACKGROUND: Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a systemic disorder of unknown etiology characterized by elevated serum IgG4 and tissue infiltration of IgG4-positive plasma cells. The disease was described in the pancreas, aorta, thyroid, salivary glands, periorbital tissues, kidneys, pericardium and lymph nodes. CASE: Here in, we report a first pediatric case report of IgG4-related disease who presented with a mass in skeletal muscle i.e., biceps muscle. CONCLUSION: To the best of our knowledge, the involvement in skeletal muscle has previously not been reported in children.


Assuntos
Doença Relacionada a Imunoglobulina G4 , Criança , Humanos , Imunoglobulina G , Músculo Esquelético , Glândula Tireoide
14.
Turk J Pediatr ; 61(5): 671-676, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32104998

RESUMO

Taçyildiz N, Tanyildiz HG, Ünal E, Dinçaslan H, Asarcikli F, Adakli Aksoy B, Vatansever G, Yavuz G. A targeted salvage therapy with Brentuximab vedotin in heavily treated refractory or relapsed pediatric Hodgkin lymphoma patients before and after stem cell transplantation. Turk J Pediatr 2019; 61: 671-676. Hodgkin`s lymphoma (HL) is highly curable disease in its early stages, but in advanced stages, it presents a dilemma when it becomes refractory or relapses after several rounds of chemotherapy. Brentuximab vedotin (BV) is an antibody-drug conjugate that targets the tumor necrosis receptor family protein member CD30 positive malignancies via an anti-CD30 monoclonal antibody linked to monomethyl auristatin-E. In adult and pediatric studies, it has been shown to be an effective salvage therapy for primary refractory HL or relapse after autologous stem cell transplant (ASCT). Between July 2012 and August 2017, we administered BV (1.8 mg/m2 every three weeks; 12 cycles totally) with doxorubucin, vinblastin, dacarbazine (AVD), rituximab + ifosfamide + carboplatin + etoposide (RICE), or bendamustine combination treatment in pediatric HL patients, who were previosuly treated for refractory or relapsed advanced stage HL before (seven patients) or after (one patient) ASCT in our center. After eight BV courses, one patient was able to undergo match unrelated donor (MUD) SCT. Another seven pediatric HL patients, who were not able to go into remission with any other classical HL chemotherapy protocols, received 4-6 courses of BV-AVD and/or RICE/bendamustine. All were able to undergo ASCT after negative positron emission tomography (PET) imaging results. After ASCT, we switched to BV as consolidation therapy until a total of 12 cycles was completed. Patients went into remission after a median 34 (range: 12-42) months from the start of BV treatment. BV is an encouraging, well- tolerated, and effective targeted therapy especially when combined with AVD or when alternated with another targeted therapy combination, including RICE, when needed.


Assuntos
Antineoplásicos Imunológicos/uso terapêutico , Brentuximab Vedotin/uso terapêutico , Transplante de Células-Tronco Hematopoéticas , Doença de Hodgkin/terapia , Terapia de Salvação/métodos , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
15.
Pediatr Emerg Care ; 31(9): 652-3, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26335230

RESUMO

Colchicine is an anti-inflammatory drug, which has been used for the treatment of familial Mediterranean fever for several decades with narrow therapeutic-toxicity window. Colchicine poisoning is rare but frequently a life-threatening emergency condition in pediatric practice. It may occur by excessive ingestion of colchicine tablets accidentally or intentionally. Herein, we report a suicide attempt with colchicine in a 12-year-old girl who had been followed up with the diagnosis of familial Mediterranean fever. She was admitted to our emergency department with gastrointestinal complaints and subsequently died because of the rapidly deteriorating metabolic and hemodynamic conditions.


Assuntos
Colchicina/intoxicação , Febre Familiar do Mediterrâneo/tratamento farmacológico , Supressores da Gota/intoxicação , Acidose/induzido quimicamente , Criança , Colchicina/administração & dosagem , Evolução Fatal , Feminino , Supressores da Gota/administração & dosagem , Humanos , Tentativa de Suicídio
16.
J Clin Immunol ; 34(3): 309-15, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24510376

RESUMO

PURPOSES: The aims of this study were to review the frequency, characteristics, and the clinical course of primary immunodeficiency (PID) patients admitted to pediatric intensive care unit (PICU) and attempt to identify factors related with mortality that might predict a poor outcome. METHODS: We performed a retrospective review of children with PID aged 1 month to 18 years and admitted to PICU from January 2002 to January 2012 in our tertiary teaching children's hospital. RESULTS: There were a total of 51 patients accounting for 71 admissions to the PICU. The most common diagnosis was severe combined immunodeficiency. Respiratory problems were the leading cause for admission. A total of 20 patients received hematopoietic stem cell transplantation. Immune reconstitution was achieved in 9 (45 %) patients and eight of them did survive. In all 56 % of all admission episodes resulted in survival. Risk factors for mortality included requirement of mechanical ventilation (P < .001), number of organ system failure (P = .013), need for renal replacement therapy (P < .001), use of inotropes (P < .001), higher Pediatric Logistic Organ Dysfunction (PELOD) score (P = .005), and length of PICU stay (P < .001). CONCLUSIONS: This is the first study regarding the outcome and mortality-related risk factors for PID patients requiring PICU admission. We suggest that PICU management is as important as early diagnosis and treatment for these patients. Prediction of those at risk for poorer outcome might be beneficial for accurate intensive care management and survival.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , Unidades de Terapia Intensiva Pediátrica , Adolescente , Causas de Morte , Criança , Pré-Escolar , Feminino , Transplante de Células-Tronco Hematopoéticas , Mortalidade Hospitalar , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
17.
J Hum Genet ; 59(4): 229-32, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24430573

RESUMO

Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia. Using whole-exome sequencing of the proband and his parents, we identified a novel YARS2 mutation (c.1303A>G, p.Ser435Gly) that was homozygous in the patient and heterozygous in his parents. This mutation is located at the ribosomal protein S4-like domain of the gene, while other reported YARS2 mutations are all within the catalytic domain. Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase.


Assuntos
Acidose Láctica/genética , Anemia Sideroblástica/genética , Doenças Musculares/genética , Mutação , Tirosina-tRNA Ligase/genética , Acidose Láctica/complicações , Adolescente , Adulto , Anemia Sideroblástica/complicações , Criança , Pré-Escolar , Evolução Fatal , Feminino , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Musculares/complicações , Linhagem , Adulto Jovem
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