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1.
Eur J Pediatr ; 183(3): 1153-1162, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37971516

RESUMO

To investigate coronavirus disease 2019 (COVID-19) in infants aged 0 to 3 months because there is currently a significant gap in the literature on the subject. A cross-sectional study was conducted with the involvement of 19 medical centers across Turkey and 570 infants. The majority of the patients were male (58.2%), and the three most common symptoms were fever (78.2%), cough (44.6%), and feeding intolerance (39.9%). The results showed that a small percentage of infants had positive blood (0.9%) or urine cultures (10.2%). Most infants presented with fever (78.2%). Children without underlying conditions (UCs) had mostly a complicated respiratory course and a normal chest radiography. Significant more positive urine culture rates were observed in infants with fever. A higher incidence of respiratory support requirements and abnormal chest findings were seen in infants with chronic conditions. These infants also had a longer hospital stay than those without chronic conditions.  Conclusions: Our study discloses the clinical observations and accompanying bacterial infections found in infants aged under 3 months with COVID-19. These findings can shed light on COVID-19 in infancy for physicians because there is limited clinical evidence available. What is Known: • COVID-19 in infants and older children has been seen more mildly than in adults. • The most common symptoms of COVID-19 in infants are fever and cough, as in older children and adults. COVID-19 should be one of the differential diagnoses in infants with fever. What is New: • Although most infants under three months had fever, the clinical course was uneventful and respiratory complications were rarely observed in healthy children. • Infants with underlying conditions had more frequent respiratory support and abnormal chest radiography and stayed longer in the hospital.


Assuntos
COVID-19 , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Doença Crônica , Tosse/etiologia , COVID-19/epidemiologia , COVID-19/complicações , Estudos Transversais , Turquia/epidemiologia
2.
Eur J Pediatr ; 182(7): 3231-3242, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37140703

RESUMO

This multi-center point prevalence study evaluated children who were diagnosed as having coronavirus disease 2019 (COVID-19). On February 2nd, 2022, inpatients and outpatients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were included in the study from 12 cities and 24 centers in Turkey. Of 8605 patients on February 2nd, 2022, in participating centers, 706 (8.2%) had COVID-19. The median age of the 706 patients was 92.50 months, 53.4% were female, and 76.7% were inpatients. The three most common symptoms of the patients with COVID-19 were fever (56.6%), cough (41.3%), and fatigue (27.5%). The three most common underlying chronic diseases (UCDs) were asthma (3.4%), neurologic disorders (3.3%), and obesity (2.6%). The SARS-CoV-2-related pneumoniae rate was 10.7%. The COVID-19 vaccination rate was 12.5% in all patients. Among patients aged over 12 years with access to the vaccine given by the Republic of Turkey Ministry of Health, the vaccination rate was 38.7%. Patients with UCDs presented with dyspnea and pneumoniae more frequently than those without UCDs (p < 0.001 for both). The rates of fever, diarrhea, and pneumoniae were higher in patients without COVID-19 vaccinations (p = 0.001, p = 0.012, and p = 0.027).  Conclusion: To lessen the effects of the disease, all eligible children should receive the COVID-19 vaccine. The illness may specifically endanger children with UCDs. What is Known: • Children with COVID-19 mainly present with fever and cough, as in adults. • COVID-19 may specifically threaten children with underlying chronic diseases. What is New: • Children with obesity have a higher vaccination rate against COVID-19 than children without obesity. • Among unvaccinated children, fever and pneumoniae might be seen at a higher ratio than among vaccinated children.


Assuntos
COVID-19 , Adulto , Humanos , Criança , Feminino , Idoso , Masculino , COVID-19/epidemiologia , SARS-CoV-2 , Vacinas contra COVID-19 , Pacientes Ambulatoriais , Tosse , Pacientes Internados , Turquia/epidemiologia , Prevalência , Obesidade , Doença Crônica
3.
BMC Pediatr ; 23(1): 121, 2023 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-36932373

RESUMO

BACKGROUND: Antibiotic-associated diarrhea is one of the most frequent side effects of antimicrobial therapy. We assessed the epidemiological data of antibiotic-associated diarrhea in pediatric patients in our region. METHODS: The prospective multi-center study included pediatric patients who were initiated an oral antibiotic course in outpatient clinics and followed in a well-established surveillance system. This follow-up system constituded inclusion of patient by the primary physician, supply of family follow-up charts to the family, passing the demographics and clinical information of patient to the Primary Investigator Centre, and a close telephone follow-up of patients for a period of eight weeks by the Primary Investigator Centre. RESULTS: A result of 758 cases were recruited in the analysis which had a frequency of 10.4% antibiotic-associated diarrhea. Among the cases treated with amoxicillin-clavulanate 10.4%, and cephalosporins 14.4% presented with antibiotic-associated diarrhea. In the analysis of antibiotic-associated diarrhea occurrence according to different geographical regions of Turkey, antibiotic-associated diarrhea episodes differed significantly (p = 0.014), particularly higher in The Eastern Anatolia and Southeastern Anatolia. Though most commonly encountered with cephalosporin use, antibiotic-associated diarrhea is not a frequent side effect. CONCLUSION: This study on pediatric antibiotic-associated diarrhea displayed epidemiological data and the differences geographically in our region.


Assuntos
Antibacterianos , Pacientes Ambulatoriais , Criança , Humanos , Estudos Prospectivos , Antibacterianos/efeitos adversos , Combinação Amoxicilina e Clavulanato de Potássio/efeitos adversos , Cefalosporinas/efeitos adversos , Diarreia/induzido quimicamente , Diarreia/epidemiologia , Diarreia/tratamento farmacológico
4.
J Clin Apher ; 37(5): 522-526, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36151906

RESUMO

Brucellosis is a multisystemic disease that can present with multiple signs and symptoms. Rarely, brucellosis can manifest as neurobrucellosis, with central or peripheral nervous system involvement. Guillain-Barré syndrome (GBS) is a post-infectious autoimmune disease that progresses rapidly, causing ascending muscle weakness, and is accompanied by areflexia/hyporeflexia. Regarding GBS etiology, it is thought to be an autoimmune disease, triggered by a previous bacterial or viral infection. There are a few Brucella-associated GBS case reports in the literature and in our opinion, only one of them is a pediatric patient. Herein we reported a case of GBS associated with neurobrucellosis, who was successfully treated with therapeutic plasmapheresis (TP) due to poor response to IVIG treatment.


Assuntos
Doenças Autoimunes , Brucelose , Síndrome de Guillain-Barré , Doenças Autoimunes/terapia , Brucelose/tratamento farmacológico , Brucelose/terapia , Criança , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Plasmaferese/efeitos adversos
5.
J Paediatr Child Health ; 58(6): 1069-1078, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35199895

RESUMO

AIM: Multisystem inflammatory syndrome in children (MIS-C) may cause shock and even death in children. The aim of this study is to describe the clinical features, laboratory characteristics and outcome of children diagnosed with MIS-C in 25 different hospitals in Turkey. METHODS: The retrospective study was conducted between 8 April and 28 October 2020 in 25 different hospitals from 17 cities. Data were collected from patients' medical records using a standardised form. Clinical and laboratory characteristics and outcomes according to different age groups, gender and body mass index percentiles were compared using multivariate logistic regression analysis. RESULTS: The study comprised 101 patients, median age 7 years (interquartile range (IQR) 4.6-9.3); 51 (50.5%) were boys. Reverse-transcriptase polymerase chain reaction (PCR) assay was positive in 21/100 (21%) patients; 62/83 (74.6%) patients had positive serology for SARS-CoV-2. The predominant complaints were fever (100%), fatigue (n = 90, 89.1%), and gastrointestinal symptoms (n = 81, 80.2%). Serum C-reactive protein (in 101 patients, median 165 mg/L; range 112-228), erythrocyte sedimentation rate (73/84, median 53 mm/s; IQR 30-84) and procalcitonin levels (86/89, median 5 µg/L; IQR 0.58-20.2) were elevated. Thirty-eight patients (37.6%) required admission to intensive care. Kawasaki disease (KD) was diagnosed in 70 (69.3%) patients, 40 of whom had classical KD. Most patients were treated with intravenous immunoglobulin (n = 92, 91%) and glucocorticoids (n = 59, 58.4%). Seven patients (6.9%) died. CONCLUSION: The clinical spectrum of MIS-C is broad, but clinicians should consider MIS-C in the differential diagnosis when persistent fever, fatigue and gastrointestinal symptoms are prominent. Most patients diagnosed with MIS-C were previously healthy. Immunomodulatory treatment and supportive intensive care are important in the management of cases with MIS-C. Glucocorticoids and intravenous immunoglobulins are the most common immunomodulatory treatment options for MIS-C. Prompt diagnosis and prompt treatment are essential for optimal management.


Assuntos
COVID-19 , Síndrome de Linfonodos Mucocutâneos , COVID-19/complicações , Criança , Fadiga , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Estudos Retrospectivos , SARS-CoV-2 , Síndrome de Resposta Inflamatória Sistêmica , Turquia/epidemiologia
7.
Eur J Clin Microbiol Infect Dis ; 39(7): 1279-1286, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32060753

RESUMO

RSV is one of the most important agents of lower respiratory infections in childhood. In this study, anti-RSV antibody levels in mother-infant pairs and factors related to antibody transfer ratio were investigated. One hundred and twenty-seven women that had term babies and their babies and 84 mother-infant pairs of them who continued the study after 6 months were enrolled. Anti-RSV IgG antibodies of the mothers and infants were positive in 46.5% and 61.5%, respectively. At the sixth month, anti-RSV antibodies were negative in all infants. Median of the anti-RSV antibody levels of the mothers and infants at birth were 12.08 IU/ml (1.21-119.27) and 13.78 IU/ml (3.99-108.6), respectively. There was a significant correlation between anti-RSV antibody levels of mothers and infants at birth (p: 0.0001, r: 0.667) and anti-RSV antibody levels of infants at birth and at 6th month (p: 0.0001, r: 0.343). Median ratio of infant and mother antibody levels was 1.22 (0.14-6.05). Median ratio that was detected in appropriate for gestational age infants was significantly higher than in small for gestational age or large for gestational age infants. In this study, the significant positive correlation between maternal antibody levels and infants' antibody levels at birth suggests that maternal vaccination strategies may be logical. We showed that antibody transfer rate was highest in appropriate for gestational age infants. It should be kept in mind that maternal vaccination strategies may be less effective in small for gestational age and large for gestational age infants.


Assuntos
Anticorpos Antivirais/sangue , Imunidade Materno-Adquirida , Imunoglobulina G/sangue , Vírus Sincicial Respiratório Humano/imunologia , Adulto , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Troca Materno-Fetal , Mães , Gravidez , Infecções por Vírus Respiratório Sincicial/imunologia , Infecções por Vírus Respiratório Sincicial/prevenção & controle
8.
Radiol Med ; 124(2): 126-131, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30259316

RESUMO

OBJECTIVES: Parotid gland (PG) involvement is common among the patients with HIV infection. Shear wave elastography (SWE) is a noninvasive method used to measure the tissue stiffness of several organs including PG. The aim of this study was to evaluate the tissue stiffness values of PGs of HIV-infected children via SWE and compare the results with the counterparts of healthy subjects. MATERIALS AND METHODS: This single-center, prospective study included the PG examinations of 23 pediatric HIV patients and 40 healthy children via grayscale ultrasound and SWE. Independent sample T test and Mann-Whitney U test were used in statistical analysis. RESULTS: Stiffness of both PGs was significantly higher in patients' group when compared with control subjects. In addition, when the patients were separated into two groups according to the appearance of PG on grayscale ultrasound as homogeneous and heterogeneous, stiffness values were increased in the patients with homogeneous parenchymal appearance. No significant difference was achieved in terms of median CD4 and CD8 counts, HIV RNA levels or median duration of illnesses. CONCLUSIONS: PG examination of HIV-infected children via SWE reveals increased tissue stiffness when compared with healthy subjects. SWE can be used as an ultrasound-assisted noninvasive technique in this manner.


Assuntos
Infecções por HIV/complicações , Doenças Parotídeas/diagnóstico por imagem , Doenças Parotídeas/virologia , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/virologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Técnicas de Imagem por Elasticidade/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
9.
Turk J Med Sci ; 49(3): 899-906, 2019 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-31192547

RESUMO

Background/aim: This study aimed to evaluate the stiffness of the liver, spleen, and kidneys in HIV-monoinfected children via shear wave elastography (SWE). Materials and methods: Twenty-one HIV-monoinfected children and 37 healthy subjects were included in this study. Livers, spleens, and kidneys of the participants were examined via ultrasound and SWE. Patients were divided into two groups according to the presence of pathologic ultrasonographic findings. Routine laboratory tests were also recorded. Stiffness of these organs was compared between patients and control groups. Results: Liver transaminases, blood urea, and creatinine levels were normal in all subjects. Ultrasonographic examination revealed hepatosplenomegaly (n = 1, 4.7%), grade 1 hepatosteatosis (n = 1, 4.7%), and hepatosteatosis and minimal heterogeneity of the liver (n = 1, 4.7%). Ultrasonographic features were normal in 18 patients. Stiffness of the liver, spleen, and kidneys of all HIV-monoinfected children with normal laboratory parameters was significantly higher than in healthy subjects. Eighteen patients with normal ultrasonographic findings also had higher stiffness values when compared to control subjects. Conclusion: Stiffness of the liver, spleen, and kidneys in HIV-monoinfected children was increased. SWE can be used in the detection of early parenchymal changes even in patients with normal laboratory parameters and ultrasonographic findings.


Assuntos
Técnicas de Imagem por Elasticidade/métodos , Infecções por HIV , Rim , Fígado , Baço , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Infecções por HIV/diagnóstico por imagem , Infecções por HIV/fisiopatologia , Humanos , Lactente , Rim/diagnóstico por imagem , Rim/fisiopatologia , Fígado/diagnóstico por imagem , Fígado/fisiopatologia , Masculino , Baço/diagnóstico por imagem , Baço/fisiopatologia
10.
Am J Infect Control ; 52(1): 81-86, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37591312

RESUMO

BACKGROUND: Children who underwent hematopoietic stem cell transplant (HSCT) transplants are at high risk of developing central-line-associated bloodstream infections (CLABSIs). The present study aimed to identify possible risk factors for mortality by analyzing the clinical and laboratory characteristics of patients diagnosed with CLABSI in our pediatric hematopoietic stem cell transplant unit. METHODS: The initial CLABSI episodes of 102 children were analyzed. Medical records of the patients were evaluated by preformed standardized surveys. Univariate analysis and multivariate logistic regression analysis were performed to identify risk factors for mortality. RESULTS: Thirty-five patients (34.3%) were female. The median age was 48 months (3-204). The median time to onset of CLABSI was 19 days (4-150). The gram-negative and gram-positive bacteria ratio among the causative agents was 57.8% to 34.3%. The mortality rate was 12.6%. The presence of severe neutropenia, initiation of inappropriate empirical antibiotic therapy, the presence of hypotension, persistent bacteremia, pediatric intensive care unit admission, growth of carbapenemase-positive gram-negative microorganism and multidrug-resistant bacteria were significantly high in the mortality group when compared to survivors. The presence of hypotension, inappropriate empirical antibiotic therapy, and persistent bacteremia were found to be independent risk factors for mortality. CONCLUSIONS: Rational use of antibiotics, active surveillance and screening of patients together with improved infection control practices may reduce the incidence and the consequences of CLABSIs.


Assuntos
Bacteriemia , Infecções Relacionadas a Cateter , Cateterismo Venoso Central , Transplante de Células-Tronco Hematopoéticas , Hipotensão , Sepse , Criança , Humanos , Feminino , Pré-Escolar , Masculino , Infecções Relacionadas a Cateter/epidemiologia , Infecções Relacionadas a Cateter/etiologia , Estudos Retrospectivos , Sepse/etiologia , Bacteriemia/microbiologia , Catéteres , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Antibacterianos/uso terapêutico , Fatores de Risco , Hipotensão/complicações , Cateterismo Venoso Central/efeitos adversos
11.
Front Pediatr ; 12: 1274010, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38832001

RESUMO

Purpose: Hand, foot and mouth disease (HFMD) is a viral contagious disease of children caused by human enteroviruses (EVs) and coxsackieviruses (CVs). There is no specific treatment option for HFMD. EPs® 7630's anti-infective and immunomodulatory properties have previously been demonstrated in several in vitro and in vivo studies; however, the use of this herbal medicine in children with HFMD has not previously been investigated. Methods: This prospective randomized multicenter clinical study included 208 children with HFMD. The diagnosis was made by pediatricians. The patients who were within the first 48 h of symptom onset (according to the first onset of fever and skin findings) were enrolled. The study participants were assigned into 2 groups as EPs® 7630 and control groups. All patients were followed up twice more, 48 h after the first admission and on the 5th-7th day. Another phone evaluation was conducted for those with continued complaints from the previous visit. Results: The median age was 27 (12-112) months. The male-female ratio was 0.98. One hundred thirty one (63%) of 190 patients had no history of household contact. EPs® 7630 group included 94 and control group included 96 patients. A significant difference was found between the groups in terms of complaint scores at the visits made at the 48th h of the treatment and on days 5-7 (p < 0.001). The mean ± SD disease duration of EPs® 7630 users was significantly shorter 6.07 ± 0.70 days (95% CI: 5.92-6.21)] than the control group [8.58 ± 0.94 days (95% CI: 8.39-8.77)] (p < 0.001). Besides, the hospitalization rate among the EPs® 7630 users were significantly lower (p = 0.019). No side effects were observed, except for unpleasant taste, which was reported in 5 patients (EPs® 7630 group). Conclusion: Considering its efficacy and safety profile EPs® 7630 may represent a feasible herbal-based treatment option for children with HFMD. Clinical Trial Registration: ClinicalTrials.gov, identifier (NCT06353477).

12.
Eur J Ophthalmol ; 33(6): NP41-NP48, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36345218

RESUMO

BACKGROUND AND AIM: Cat-scratch disease (CSD) is a systemic bacterial infection caused by Bartonella henselae. The disease is typically characterized by regional lymphadenopathy developing after scratches from domestic or feral cats. Rarely, systemic involvement may be observed. The co-occurrence with glomerulonephritis and positive antinuclear antibody (ANA) tests have been reported before. In these cases, the disease can be misdiagnosed as systemic lupus erythematosus. Ocular involvement occurs in 5%-10% of the cases with CSD, and neuroretinitis is among the common manifestations. Administration of corticosteroids (CSs) in addition to antibiotics has been shown to improve prognosis in neuroretinitis cases. However, the optimal dose and duration, remain ill-defined. CASE REPORT: In this article, we present an 11-year-old girl with CSD and neuroretinitis with a positive ANA test and hematuria, who benefited from high-dose methyl-prednisolone and antibiotics. CONCLUSION: Further research is warranted in order to determine the dose and duration of CSs in the treatment of Bartonella neuroretinitis.

13.
Malawi Med J ; 34(2): 154-156, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35991822

RESUMO

Pfizer-BioNTech COVID-19 (BNT162b2) conferred a high level of protection against Covid-19 with a proven short-term safety profile. Although cases of vaccine-associated myopericarditis have been reported, the existence of rhabdomyolysis without myocarditis has not yet been published. A 16-year-old, healthy male patient, who did not use any herbal or illegal drugs before, was admitted with muscle pain that developed after the second dose of BNT162b2 vaccine. Cardiac examination and heart enzymes were normal and the patient had significantly higher creatinine kinase levels. The patient, whose enzymes returned to normal with only force hydration therapy, recovered without complications. Reporting the side effects of the vaccine, which has a short history of application to large populations, is of vital importance in the conduct of vaccine development studies and in identifying the risky group in terms of side effects.


Assuntos
Vacina BNT162 , Vacinas contra COVID-19 , Rabdomiólise , Adolescente , Vacina BNT162/administração & dosagem , Vacina BNT162/efeitos adversos , COVID-19/prevenção & controle , Vacinas contra COVID-19/administração & dosagem , Vacinas contra COVID-19/efeitos adversos , Humanos , Masculino , Miocardite/induzido quimicamente , Miocardite/etiologia , Rabdomiólise/induzido quimicamente , Rabdomiólise/diagnóstico , Rabdomiólise/etiologia , Rabdomiólise/terapia , Resultado do Tratamento
14.
Int J Pediatr Otorhinolaryngol ; 156: 111116, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35325846

RESUMO

BACKGROUND: Acute otitis media (AOM) is one of the most common childhood infections. Ear pain, the main symptom of AOM, results in parents frequently seeking medical assistance for their children. The aim of this study was to compare the effectiveness of topical 1% lidocaine ear drops administered with oral analgesics with that of oral analgesics alone. METHODS: This multicenter randomized, open-labeled study was conducted at 15 centers with 184 pediatric AOM patients with bilateral ear pain (aged 1-5 years) between May 1, 2016, and June 31, 2018. All patients received oral paracetamol or ibuprofen and topical 1% lidocaine, which was administered to each ear according to the randomization list. The ear pain score was evaluated within 48 h using the Face, Legs, Activity, Cry, and Consolability (FLACC) scale, and the patients were followed up for 10 days. RESULTS: The median age was 31.8 months (min-max, 12-84.2 months). Of those patients enrolled, 22.3% received paracetamol, and 24.5% received paracetamol with lidocaine ear drops; 23.4% received ibuprofen, and 29.9% received ibuprofen with lidocaine ear drops. Lower pain scores were significantly measured at baseline and 10th minutes by a reduction 25% (RR 13.64, 95% CI 4.47-41.63, p = 0.001, RR 0.14, 95% CI 0.06-0.35, p = 0.001) and 50% (RR 4.76, 95% CI 1.63-13.87, p = 0.004, RR 0.14, 95% CI 0.05-0.4, p = 0.001) in the paracetamol and lidocaine versus paracetamol groups and the ibuprofen and lidocaine versus ibuprofen groups, respectively. No serious side effects were evident during follow-up. CONCLUSION: This randomized study suggests that topical 1% lidocaine ear drops with paracetamol or ibuprofen seems to provide effective and rapid relief for children presenting with ear pain attributed to AOM.


Assuntos
Acetaminofen , Otite Média , Acetaminofen/uso terapêutico , Doença Aguda , Analgésicos/uso terapêutico , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Dor de Orelha/diagnóstico , Dor de Orelha/tratamento farmacológico , Dor de Orelha/etiologia , Humanos , Ibuprofeno/uso terapêutico , Lidocaína/uso terapêutico , Otite Média/complicações , Otite Média/tratamento farmacológico , Dor/tratamento farmacológico
15.
Immunol Res ; 70(1): 44-55, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34618307

RESUMO

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n = 4), CD40L (n = 1), ICOS (n = 1), IGHM (n = 1), and TCF3 (n = 1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2-10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.


Assuntos
Agamaglobulinemia , Hipersensibilidade , Doenças da Imunodeficiência Primária , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Turquia/epidemiologia
16.
Paediatr Int Child Health ; 41(2): 154-157, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32990186

RESUMO

A 15-year-old girl was followed up for 2 years in a district hospital for management of vesicoureteral reflux and, subsequently, hydronephrosis of both kidneys and required bilateral ureteroneocystostomy. Despite surgery, there was continuous progression of the left hydronephrosis. Referral to a tertiary hospital because of continued sterile pyuria prompted investigation for tuberculosis (TB): she was diagnosed with bilateral pulmonary TB and urine culture confirmed Mycobacterium tuberculosis. Despite tuberculous chemotherapy and dexamethasone, she required a left nephrectomy. Histology demonstrated necrotising granulomatous pyelonephritis. She remains well with normal function of the right kidney. Despite the rarity, chronic urinary tract disorders should always prompt investigation for tuberculosis.


Assuntos
Hidronefrose , Tuberculose dos Linfonodos , Tuberculose Renal , Ureter , Adolescente , Feminino , Humanos , Nefroureterectomia , Tuberculose Renal/complicações , Tuberculose Renal/diagnóstico , Tuberculose Renal/cirurgia , Ureter/cirurgia
17.
Hormones (Athens) ; 20(2): 389-394, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33155142

RESUMO

The biological role of the lipopolysaccharide-responsive beige-like anchor (LRBA) protein associated with the immune system is not to date well known. However, it is thought to regulate the CTLA4 protein, an inhibitory immunoreceptor. Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency. This rare disease is observed as a result of homozygous mutations in the LRBA gene. An 11.3-year-old male patient presented because of short stature and high blood glucose level. He had a previous history of lymphoproliferative disease, chronic diarrhea, and recurrent infections. His parents were first-degree consanguineous relatives. A diagnosis of type 1 diabetes mellitus (T1DM) was added to the preexisting diagnoses of immunodeficiency, recurrent infection, enteropathy, chronic diarrhea, lymphadenopathy, hepatomegaly, and short stature. Genetic analysis revealed a homozygous mutation in the LRBA gene, c.5047C>T (p.R1683*) (p.Arg1683*). Abatacept treatment was started: the patient's hospital admission frequency decreased, and glucose regulation improved. At follow-up, growth hormone (GH) deficiency was diagnosed, although it was not treated because the underlying disease was not under control. Nevertheless, the patient's height improved with abatacept treatment. LRBA deficiency should be considered in the presence of consanguineous marriage, diabetes, immunodeficiency, and additional autoimmune symptoms. LRBA phenotypes are variable even when the same variants in the LRBA gene are present. Genetic diagnosis is important to determine optimal treatment options. In addition to chronic malnutrition and immunosuppressive therapy, GH deficiency may be one of the causes of short stature in these patients.


Assuntos
Colite , Diabetes Mellitus Tipo 1 , Síndromes de Imunodeficiência , Abatacepte , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Criança , Diabetes Mellitus Tipo 1/genética , Diarreia/etiologia , Humanos , Masculino , Reinfecção
18.
Sci Rep ; 11(1): 7216, 2021 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-33785855

RESUMO

The frequency of bacterial factors causing central nervous system infections has decreased as a result of the development of our national immunization program. In this study, it is aimed to obtain the data of our local surveillance by defining the viral etiology in cases diagnosed with meningoencephalitis for 1 year. Previously healhty 186 children, who applied with findings suggesting viral meningoencephalitis to 8 different tertiary health centers between August 2018 and August 2019, in Istanbul, were included. The cerebrospinal fluid (CSF) sample was evaluated by polymerase chain reaction. The M:F ratio was 1.24 in the patient group, whose age ranged from 1 to 216 months (mean 40.2 ± 48.7). Viral factor was detected in 26.8%. Enterovirus was the most common agent (24%) and followed by Adenovirus (22%) and HHV type 6 (22%). In the rest of the samples revealed HHV type 7 (10%), EBV (6%), CMV (6%), HSV type 1 (6%), Parvovirus (4%) and VZV (2%). The most common symptoms were fever (79%) and convulsions (45.7%). Antibiotherapy and antiviral therapy was started 48.6% and 4% respectively. Mortality and sequela rate resulted 0.53% and 3.7%, respectively. This highlights the importance of monitoring trends in encephalitis in Turkey with aview to improving pathogen diagnosis for encephalitis and rapidly identifying novel emerging encephalitis-causing pathogens that demand public health action especially in national immunisation programme.


Assuntos
Meningoencefalite/virologia , Viroses/virologia , Vírus/isolamento & purificação , Adolescente , Antivirais/uso terapêutico , Criança , Pré-Escolar , Enterovirus/efeitos dos fármacos , Enterovirus/isolamento & purificação , Infecções por Enterovirus/complicações , Infecções por Enterovirus/tratamento farmacológico , Infecções por Enterovirus/virologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Meningoencefalite/tratamento farmacológico , Meningoencefalite/etiologia , Estudos Prospectivos , Viroses/complicações , Viroses/tratamento farmacológico , Vírus/efeitos dos fármacos
19.
Front Pediatr ; 9: 631547, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34055680

RESUMO

Objectives: The aim of this study is to identify the epidemiological, clinical, and laboratory features of coronavirus disease 2019 (COVID-19) in children. Methods: A retrospective study was conducted by pediatric infectious disease specialists from 32 different hospitals from all over Turkey by case record forms. Pediatric cases who were diagnosed as COVID-19 between March 16, 2020, and June 15, 2020 were included. Case characteristics including age, sex, dates of disease onset and diagnosis, family, and contact information were recorded. Clinical data, including the duration and severity of symptoms, were also collected. Laboratory parameters like biochemical tests and complete blood count, chest X-ray, and chest computed tomography (CT) were determined. Results: There were 1,156 confirmed pediatric COVID-19 cases. In total, male cases constituted 50.3% (n = 582) and females constituted 49.7% (n = 574). The median age of the confirmed cases was 10.75 years (4.5-14.6). Of the total cases, 90 were younger than 1 year of age (7.8%), 108 were 1-3 years of age (9.3%), 148 were 3-6 years of age (12.8%), 298 were 6-12 years of age (25.8%), 233 were 12-15 years of age (20.2%), and 268 cases were older than 15 years of age (23.2%). The most common symptom of the patients at the first visit was fever (50.4%) (n = 583) for a median of 2 days (IQR: 1-3 days). Fever was median at 38.4°C (38.0-38.7°C). The second most common symptom was cough (n = 543, 46.9%). The other common symptoms were sore throat (n = 143, 12.4%), myalgia (n = 141, 12.2%), dyspnea (n = 118, 10.2%), diarrhea (n = 112, 9.7%), stomachache (n = 71, 6.1%), and nasal discharge (n = 63, 5.4%). When patients were classified according to disease severity, 263 (22.7%) patients were asymptomatic, 668 (57.7%) patients had mild disease, 209 (18.1%) had moderate disease, and 16 (1.5%) cases had severe disease. One hundred and forty-nine (12.9%) cases had underlying diseases among the total cases; 56% of the patients who had severe disease had an underlying condition (p < 0.01). The need for hospitalization did not differ between patients who had an underlying condition and those who do not have (p = 0.38), but the need for intensive care was higher in patients who had an underlying condition (p < 0.01). Forty-seven (31.5%) of the cases having underlying conditions had asthma or lung disease (38 of them had asthma). Conclusions: To the best of our knowledge, this is one of the largest pediatric data about confirmed COVID-19 cases. Children from all ages appear to be susceptible to COVID-19, and there is a significant difference in symptomatology and laboratory findings by means of age distribution.

20.
Turk Pediatri Ars ; 54(2): 86-92, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31384143

RESUMO

AIM: Extrapulmonary tuberculosis is observed more frequently and leads to complications with a higher rate in children compared with adults because the risk of lymphohematogen spread is higher. In this study, the clinical, laboratory, and radiologic findings and treatment outcomes were evaluated in pediatric patients who were followed up in our clinic with a diagnosis of extrapulmonary tuberculosis. MATERIAL AND METHODS: Seventy patients aged 0-18 years who were followed up with a diagnosis of extrapulmonary tuberculosis between 2008 and 2017 in the Division of Pediatric Infectious Diseases in our hospital were examined retrospectively. RESULTS: The median age of the patients was 8,8 (range, 0,4-17) years and 47.1% were female (n=33). Twenty-seven patients (38.6%) were aged 0-4 years, 15 (21.4%) were aged 5-9 years, and 28 patients (40%) were aged 10-18 years. Forty-four patients (62.9%) were diagnosed as having extrapulmonary tuberculosis and 26 (37.1%) had pulmonary + extrapulmonary tuberculosis. The most common form of extrapulmonary tuberculosis was extrathoracic lymphadenopathy, which was found in 22 patients (31.4%). The other patients were diagnosed as having musculoskeletal system tuberculosis (n=10, 14.3%), gastrointestinal system tuberculosis (n=9, 12.9%), miliary tuberculosis (n=8, 11.4%), intrathoracic lymphadenopathy (n=7, 10%), renal tuberculosis (n=6, 8.6%), central nervous system tuberculosis (n=5, 7.1%), and pleural tuberculosis (n=3, 4.3%). Among a total of 58 patients in whom tuberculin skin test and interferon gamma release tests were studied together, tuberculin skin test positivity (n=37, 63.8%) was found with a higher rate compared with interferon gamma release test positivity (n=32, 55.2%), but the difference was not statistically significant (p=0.35). The median treatment period was 12 (range, 6-24) months. Among the patients whose treatments were terminated, improvement was observed in 52 patients (74.2%) and the development of sequela was observed in six patients (8.5%). Two patients who were diagnosed as having central nervous system tuberculosis (2.8%) died. CONCLUSION: Clinical, laboratory, and radiologic data should be evaluated together when making a diagnosis of extrapulmonary tuberculosis in children. Interferon gamma release tests alone are not superior to tuberculin skin test, but should be considered to be used in combination in the diagnosis.


AMAÇ: Çocuklarda, lenfohematojen yayilim riskinin yüksek olmasi nedeniyle akciger disi tüberküloz eriskinlere göre daha sik gözlenmekte ve daha fazla komplikasyona yol açmaktadir. Bu çalismada, klinigimizde akciger disi tüberküloz tanisi ile izledigimiz çocuk olgularin klinik, laboratuvar ve radyolojik bulgulari ile tedavi sonuçlari degerlendirilmistir. GEREÇ VE YÖNTEMLER: Hastanemiz Çocuk Enfeksiyon Hastaliklari Bilim Dali'nda 2008­2017 yillari arasinda akciger disi tüberküloz ile izlenen 0­18 yas arasi 70 olgu geriye dönük olarak incelendi. BULGULAR: Yas ortancasi 8,8 (0,4­17) yil olan olgularin %47,1'i kiz (n=33) idi. Sifir­4 yas arasi 27 olgu (%38,6), 5­9 yas arasi 15 olgu (%21,4), 10­18 yas arasi 28 olgu (%40) vardi. Kirk dört olgu (%62,9) akciger disi tüberküloz, 26 olgu (%37,1) akciger+akciger disi tüberküloz tanisi almisti. Yirmi iki olguda (%31,4) en sik toraks disi lenfadenopati saptandi. Diger olgular siklik sirasina göre; kas-iskelet sistemi (n=10, %14,3), gastrointestinal sistem (n=9, %12,9), miliyer (n=8, %11,4), toraks içi lenfadenopati (n=7, %10), renal (n=6, %8,6), merkezi sinir sistemi- (n=5, %7.1) ve plevra tüberkülozu (n=3,%4.3) tanilari almisti. Tüberkülin deri testi ve interferon gamma salinim testi birlikte çalisilan toplam 58 olguda, tüberkülin deri testi pozitifligi (n=37, %63,8) interferon gamma salinim testi pozitifligine göre (n=32, %55,2) daha fazlaydi, ancak istatiksel olarak anlamli bulunmadi (p=0,35). Olgularin ortanca tedavi süresi 12 (6­24) ay idi. Tedavisi sonlandirilan olgularin 52'sinde (%74,2) iyilesme, altisinda (%8,5) sekel gelisimi izlendi. Merkezi sinir sistemi tüberkülozu tanili iki olgu (%2,8) yasamini kaybetti. ÇIKARIMLAR: Çocuklarda akciger disi tüberküloz tanisi konulurken klinik, laboratuvar, radyolojik veriler birlikte degerlendirilmelidir. Interferon gamma salinim testleri tek basina tüberkülin deri testine üstün olmayip, tanida birlikte kullanilmasi düsünülmelidir.

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