RESUMEN
Genome-wide approaches, such as whole-exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter-individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children. We thus performed WES for 20 patients presented with paediatric-onset recurrent elevated transaminases (rELT) or acute liver failure (ALF) of unknown aetiology. A stringent variant screening was undertaken on a manually-curated panel of 380 genes predisposing to inherited human diseases with hepatobiliary involvement in the OMIM database. We identified rare nonsynonymous variants in nine genes in six patients (five rELT and one ALF). We next performed a case-level evaluation to assess the causal concordance between the gene mutated and clinical symptoms of the affected patient. A genetic diagnosis was confirmed in four rELT patients (40%), among whom two carried novel mutations in ACOX2 or PYGL, and two had previously-reported morbid variants in ABCB4 or PHKA2. We also detected rare variants with uncertain clinical significance in CDAN1, JAG1, PCK2, SLC27A5 or VPS33B in rELT or ALF patients. In conclusion, implementation of WES improves diagnostic yield and enables precision management in paediatric cases of liver injury with unknown aetiology, in particular recurrent hypertransaminasemia.
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Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Mutación , Humanos , Masculino , Niño , Femenino , Preescolar , Lactante , Adolescente , Fallo Hepático Agudo/genética , Fallo Hepático Agudo/diagnóstico , Transaminasas/genética , Hepatopatías/genética , Hepatopatías/diagnósticoRESUMEN
Functional gastrointestinal disorders (FGIDs) are characterized by a variety of symptoms that are frequently age-dependent, chronic, or recurrent and are not explained by structural or biochemical abnormalities. There are studies in the literature reporting different results regarding the relationship between prematurity and FGIDs. The main objective of this study was to compare the frequency of FGIDs between preterm and term infants. The secondary objective was to evaluate whether there was any association between neonatal characteristics and development of FGIDs. A multicenter prospective cohort study that included preterm infants born before 37 weeks of gestation and healthy term infants was carried out. At 1, 2, 4, 6, 9, and 12 months of age, infants were assessed for the presence of FGIDs using the Rome IV criteria. In preterm infants, an additional follow-up visit was made at 12 months corrected age. 134 preterm and 104 term infants were enrolled in the study. Infantile colic, rumination syndrome, functional constipation, and infant dyschezia were more common in preterm infants. Incidence of other FGIDs (infant regurgitation, functional diarrhea and cyclic vomiting syndrome) were similar among preterm and term infants. Preterm infants who are exclusively breastfeed in the first 6 months of life have a lower incidence of infantile colic (18.8% vs 52.1%, p = 0.025). In terms of chronological age, FGIDs symptoms started later in preterm infants; this difference was statistically significant for infantile colic and regurgitation (median age 2 months vs 1 month, p < 0.001). Conclusions: Preterm infants have a higher prevalence of FGIDs compared with term controls. Therefore, especially if they have gastrointestinal complaints, they should be screened for FGIDs. Possibly due to maturational differences, the time of occurrence of FGIDs may differ in preterm infants. Infantile colic incidence decreases with exclusive breastfeeding. What is Known: ⢠The functional gastrointestinal disorders are a very common in infancy. ⢠Data on preterm infants with FGIDs are currently very limited. What is New: ⢠Preterm infants have a higher incidence of infantile colic, rumination syndrome, functional constipation and infant dyschezia when compared to term infants. ⢠Preterm infants who are exclusively breastfed during the first 6 months of life experience a lower incidence of infantile colic.
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Enfermedades Gastrointestinales , Enfermedades del Prematuro , Recien Nacido Prematuro , Humanos , Estudios Prospectivos , Enfermedades Gastrointestinales/epidemiología , Enfermedades Gastrointestinales/diagnóstico , Femenino , Recién Nacido , Masculino , Lactante , Enfermedades del Prematuro/epidemiología , Enfermedades del Prematuro/diagnóstico , Incidencia , Tamizaje Neonatal/métodos , Estudios de SeguimientoRESUMEN
Background/aim: It is very important for the efficient use of limited capacity and the success of treatment to predict patients who may need ICU with high mortality rate in the Covid-19 outbreak. In our study, it was aimed to investigate the value of the radiological involvement on initial CT in demonstrating the ICU transfer and mortality rate of patients. Materials and methods: All PCR-positive patients were included in the study, whose CT, PCR, and laboratory values were obtained simultaneously at the time of first admission. Patients were divided into 4 groups in terms of the extent of radiological lesions. These groups were compared in terms of intensive care transfer needs and Covid-related mortality rates. Results: A total of 477 patients were included in the study. Ninety of them were group 0 (no lung involvement), 162 were group 1 (mild lesion), 89 were group 2 (moderate lesion), and 136 were group 3 (severe lung involvement). A significant relationship was found between the extensiveness of the radiological lesion on CT and admission to intensive care and mortality rate. As the initial radiological involvement amounts increased, the rate of ICU transfer and mortality increased. The mortality rates of the groups were 0%, 3%, 12.3%, and 12.5%, respectively, and the difference was significant (p < 0.001). Similarly, the ICU transfer rates of the groups were 2.2%, 5.6%, 13.5%, and 17.7%, respectively, and the difference was significant (p < 0.001). Conclusion: In conclusion, in our study, the strong relationship between the initial radiological extent assessment and the need for intensive care and mortality rates has been demonstrated, and we believe that our results will make a significant contribution to increase the success of the health system in predicting patients who may progress, helping clinicians and managing pandemics.
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COVID-19/diagnóstico , Unidades de Cuidados Intensivos/estadística & datos numéricos , Pandemias , Radiografía/métodos , COVID-19/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , SARS-CoV-2 , Tasa de Supervivencia/tendencias , Turquía/epidemiologíaRESUMEN
Background/aim: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first reported in Turkey on March 10, 2020 and the number of the patients are increasing day by day. Coronavirus disease 2019 (Covid-19) has high mortality rates in intensive care units (ICUs). We aimed to describe the demographic characteristics, comorbidities, treatment protocols, and clinical outcomes among the critically ill patients admitted to the ICU of our hospital. Materials and methods: This cohort study included 103 consecutive patients who had laboratory confirmed Covid-19 and admitted to ICU of Sakarya University Training and Research Hospital between March 19 and April 13, 2020. The final date of the follow-up was April 18. Results: The mean age of the patients was 69.6 ± 14.1 years. Most of the patients had increased CRP (99%), serum ferritin (73.8%), d-dimer (82.5%), and hs-troponin levels (38.8%). 34 patients (33%) had lymphocytopenia, 24 patients (23.3%) had thrombocytopenia. 63 patients (61.2%) developed acute respiratory distress syndrome (ARDS), 31 patients (30.1%) had acute kidney injury, and 52 patients (50.5%) had multiple organ dysfunction syndrome (MODS) during follow-up. Sixty-two patients (60.2%) received mechanical ventilation. As of April 18, of the 103 patients, 52 (50.5%) had died, 30 (29.1%) had been discharged from the ICU, 21 (20.4%) were still in the ICU. Conclusions: Covid-19 has high mortality rates in ICU. Patients with elevated procalcitonin, hs-troponin, d-dimer, and CRP levels and lower platelet count at admission have higher mortality.
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Lesión Renal Aguda/fisiopatología , COVID-19/fisiopatología , Insuficiencia Multiorgánica/fisiopatología , Síndrome de Dificultad Respiratoria/fisiopatología , Insuficiencia Respiratoria/fisiopatología , Factores de Edad , Anciano , Anciano de 80 o más Años , Antivirales/uso terapéutico , Proteína C-Reactiva/metabolismo , COVID-19/metabolismo , COVID-19/mortalidad , COVID-19/terapia , Estudios de Cohortes , Terapia de Reemplazo Renal Continuo , Enfermedad Crítica , Femenino , Ferritinas/metabolismo , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Glucocorticoides/uso terapéutico , Mortalidad Hospitalaria , Humanos , Unidades de Cuidados Intensivos , Tiempo de Internación , Linfopenia/sangre , Masculino , Persona de Mediana Edad , Terapia por Inhalación de Oxígeno , Recuento de Plaquetas , Polipéptido alfa Relacionado con Calcitonina/metabolismo , Pronóstico , Respiración Artificial , Insuficiencia Respiratoria/terapia , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Trombocitopenia/sangre , Troponina/metabolismo , TurquíaRESUMEN
BACKGROUND AND AIM: We aimed to examine the frequency of functional gastrointestinal disorders (FGIDs) among pediatric patients with epilepsy and the association of FGIDs with epilepsy characteristics. MATERIAL AND METHODS: Patients with epilepsy aged between 4 and 18â¯years old were enrolled. Age- and sex-matched healthy children were taken as the control group. Children with cerebral palsy, history of abdominal surgery, gastrointestinal disorders, medication affecting gastrointestinal system motility, recent gastrointestinal infection, and those on the ketogenic diet were excluded from the study. Rome IV symptom-based criteria were used to screen FGIDs. Frequencies of FGIDs were compared between patients with epilepsy and controls. Additionally, epilepsy type, seizure frequency, and antiepileptic drug (AED) requirements were also compared between patients with and without FGIDs. RESULTS: During the study period, 78 children [41 girls, age between 4 and 17â¯years, mean⯱â¯standard deviation (SD): 11.5⯱â¯4.3â¯years] with epilepsy were included in the study. The mean age at epilepsy onset was 7.8⯱â¯3.7â¯years, and mean disease duration was 5.1⯱â¯3.9â¯years. The most common epilepsy type was focal (74.3%), followed by generalized (25.7%). There was at least one of the FGIDs in 26 children in the patient group and 15 children in the control group (33.3% vs. 19.2%, pâ¯<â¯0.001). The most common FGID in the patient group was irritable bowel syndrome (IBS), which was significantly higher than the control group. While aerophagia and rumination syndrome were not seen in either group, cyclic vomiting syndrome was seen only in the patient group. When the patients with and without FGIDs were compared, there was no difference between the groups in terms of epilepsy type, frequency of seizure, type, and the number of drugs used. CONCLUSIONS: We found that children with epilepsy have a higher prevalence of FGIDs when compared with age- and sex-matched healthy controls. Our results suggest that children with epilepsy, especially complaining of gastrointestinal symptoms, should be screened for FGIDs.
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Epilepsia/diagnóstico , Epilepsia/epidemiología , Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/epidemiología , Tamizaje Masivo/métodos , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Síndrome del Colon Irritable/diagnóstico , Síndrome del Colon Irritable/epidemiología , Masculino , Prevalencia , Vómitos/diagnóstico , Vómitos/epidemiologíaRESUMEN
Hyaline fibromatosis syndrome (HFS), resulting from ANTXR2 mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE). The mechanisms leading to the gastrointestinal phenotype in these patients are not well defined. We present two patients with congenital diarrhea, severe PLE and unique clinical features resulting from deleterious ANTXR2 mutations. Intestinal organoids were generated from one of the patients, along with CRISPR-Cas9 ANTXR2 knockout, and compared with organoids from two healthy controls. The ANTXR2-deficient organoids displayed normal growth and polarity, compared to controls. Using an anthrax-toxin assay we showed that the c.155C>T mutation causes loss-of-function of ANTXR2 protein. An intrinsic defect of monolayer formation in patient-derived or ANTXR2KO organoids was not apparent, suggesting normal epithelial function. However, electron microscopy and second harmonic generation imaging showed abnormal collagen deposition in duodenal samples of these patients. Specifically, collagen VI, which is known to bind ANTXR2, was highly expressed in the duodenum of these patients. In conclusion, despite resistance to anthrax-toxin, epithelial cell function, and specifically monolayer formation, is intact in patients with HFS. Nevertheless, loss of ANTXR2-mediated signaling leads to collagen VI accumulation in the duodenum and abnormal extracellular matrix composition, which likely plays a role in development of PLE.
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Colágeno/metabolismo , Duodeno/metabolismo , Síndrome de Fibromatosis Hialina/metabolismo , Enteropatías Perdedoras de Proteínas/metabolismo , Receptores de Péptidos/genética , Antígenos Bacterianos/química , Toxinas Bacterianas/química , Sistemas CRISPR-Cas , Consanguinidad , Diarrea/congénito , Matriz Extracelular/metabolismo , Humanos , Síndrome de Fibromatosis Hialina/genética , Lactante , Masculino , Microscopía Electrónica , Mutación , Fenotipo , Enteropatías Perdedoras de Proteínas/genética , Receptores de Péptidos/deficiencia , Transducción de SeñalRESUMEN
INTRODUCTION: Intensive care physicians are increasingly involved in decision making about the prognosis of intensive care unit ICU patients. With this study; we aimed to evaluate the power of clinician foresight at prediction of mortality in patient at triage to intensive care and patient follow-up. MATERIALS AND METHODS: This study was conducted in ICUs located in various geographical regions of Turkey between January 1, 2017-April 30, 2017.The clinical research was planned as observational, multicenter, cross-sectional. RESULT: A total of 1169 intubated patients were followed in 37 different ICU. At the beginning of the follow-up we asked the physician who will follow the patient in the ICU to give a score for the probability of survival of the patients. Scoring included a total of 6 scores from 0 to 5, with the "0" the worst probability "5" being the best. According to this distribution, only 1 (0.9%) of 113 patients who were given 0 points survived. Three (6.1%) of 49 with the best score of 5 died. Survival rates were significantly different in each score group (r: -0.488; p<0.001). After the combined mortality estimation scores based on the clinical observations of the physicians (0 and 1 point score was combined as non-survive, 4 and 5 score was combined as survived) 320 of the 545 patients were estimated to be dead and 225 were predicted survival. Sensitivity and spesifity of scoring system to predict mortality was 91.56% (95% CI: 87.96-94.37), 76.89% (95% CI: 70.82-82.23) respectively. CONCLUSIONS: In this study, we concluded that the physicians who follow the patients in the ICU can predict the poor prognosis at the time of admission and the high mortality rate. The physician's opinion on mortality estimation should be considered in intensive care mortality scoring in addition to other laboratory and clinical parameters.
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Enfermedad Crítica/mortalidad , Mortalidad Hospitalaria/tendencias , Unidades de Cuidados Intensivos , Pautas de la Práctica en Medicina/estadística & datos numéricos , Índice de Severidad de la Enfermedad , Adulto , Anciano , Cuidados Críticos/estadística & datos numéricos , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Prospectivos , TurquíaRESUMEN
BACKGROUND AND AIM: We aimed to examine the frequency and the characteristics of immunoglobulin G4 (IgG4)-associated autoimmune hepatitis among pediatric patients with autoimmune hepatitis. METHODS: Immunostaining for IgG and IgG4 was performed in liver biopsies of 40 pediatric patients with autoimmune hepatitis. The patients with more than 10 IgG4-positive plasma cells/high-power field were defined as IgG4-associated autoimmune hepatitis. Clinic, laboratory, and histopathological results were compared between groups. RESULTS: Among the 40 pediatric patients, 34 patients were type 1 and 6 patients were type 2 autoimmune hepatitis. Six patients (15%), four of the type 1 and two of the type 2 autoimmune hepatitis patients, were diagnosed with IgG4-associated autoimmune hepatitis. Clinical, laboratory, and histopathological data were initially similar in both forms. There was a positive correlation between IgG4-positive plasma cell count and degree of portal (r: 0.406, P: 0.009) and lobular inflammation (r: 0.37, P: 0.019), grade of interface hepatitis (r: 0.33, P: 0.03), and fibrosis (r: 0.318, P: 0.046). Time required for normalization of liver transaminases and serum IgG level was significantly shorter in IgG4-associated autoimmune hepatitis (3.3 ± 0.5 vs 6.6 ± 3.5 for alanine aminotransferase, 3.7 ± 0.8 vs 6.7 ± 1.2 for aspartate aminotransferase, 4.3 ± 1.2 vs 7.1 ± 2.7 for gamma-glutamyl transpeptidase, and 7.2 ± 3.1 vs 12.8 ± 4.5 for IgG). CONCLUSIONS: Immunoglobulin G4-associated autoimmune hepatitis can be found in pediatric age group and also in type 2 autoimmune hepatitis patients. As steroid response may be better in IgG4-associated autoimmune hepatitis, biopsy specimens should be evaluated for this entity at diagnosis.
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Hepatitis Autoinmune/diagnóstico , Hepatitis Autoinmune/patología , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/patología , Adolescente , Biomarcadores/metabolismo , Niño , Preescolar , Femenino , Hepatitis Autoinmune/inmunología , Humanos , Inmunoglobulina G/sangre , Enfermedad Relacionada con Inmunoglobulina G4/inmunología , Hígado/enzimología , Hígado/inmunología , Pruebas de Función Hepática , Masculino , Estudios Retrospectivos , Factores de Tiempo , Transaminasas/metabolismoRESUMEN
BACKGROUND: Procalcitonin (PCT) is the precursor structure of the calcitonin hormone with 116 amino acids. The measurement of serum procalcitonin is currently being safely used in community-acquired pneumonia, bacterial peritonitis and sepsis in the diagnosis, decision on the initiation of treatment, and follow-up of the response to treatment. In this study, it is aimed to compare PCT results obtained by the VIDAS PCT that makes measurements by the enzyme-dependent fluorescence (ELFA) method and Architect PCT method, a chemiluminescent microparticle immunoassay (CMIA) that has just been put into use, both of which are BâRâAâHâMâS licensed and have method differences. METHODS: Serum samples of 109 patients from different clinics with a PCT request were included in the study. The sera were divided into two groups and the samples were immediately studied with two methods. Cohen's Kappa (κ) coefficient was used to determine concordance between the two methods. Other parameters were analyzed by the paired t-test, and their concordance was evaluated. RESULTS: In the concordance analysis study carried out by considering the significant cutoff value of 0.5 ng/mL in the clinical diagnosis of bacterial infections, the κ value was found to be 0.930, p < 0.001. Concordance was at an excellent level. Upon pairing and analyzing all the results regardless of the cutoff value, the Concordance Coefficient was found to be 0.958 (p < 0.001). It was observed that concordance was at an excellent level. CONCLUSIONS: Upon comparing the patient results obtained as a result of the study, it was observed that the concordance of the methods with each other was excellent. Larger and more comprehensive studies on this issue will be helpful.
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Infecciones Bacterianas/sangre , Técnicas de Laboratorio Clínico/normas , Polipéptido alfa Relacionado con Calcitonina/sangre , Adulto , Anciano , Antibacterianos/uso terapéutico , Automatización , Infecciones Bacterianas/tratamiento farmacológico , Infecciones Bacterianas/microbiología , Biomarcadores/sangre , Infecciones Comunitarias Adquiridas/sangre , Infecciones Comunitarias Adquiridas/tratamiento farmacológico , Infecciones Comunitarias Adquiridas/microbiología , Electroquímica , Femenino , Humanos , Inmunoensayo/métodos , Luminiscencia , Masculino , Persona de Mediana Edad , Neumonía/sangre , Neumonía/tratamiento farmacológico , Neumonía/microbiología , Reproducibilidad de los Resultados , Espectrometría de FluorescenciaRESUMEN
Background/aim: Sonographic assessment of diaphragm structure and function would be a useful clinical tool in patients with chronic obstructive pulmonary disease (COPD). Our aim was to determine the muscle thickness of the diaphragm and the usefulness of clinical practice in patients with COPD. Materials and methods: The diaphragmatic thickness of 34 COPD patients and 34 healthy subjects was measured during tidal volume (Tmin) and deep inspiration (Tmax) on both sides using a B-mode ultrasound. The body mass index and the modified Medical Research Council (mMRC) index values were reported. Results: There was no correlation among TminR (P = 0.134), TminL (P = 0.647), TmaxR (P = 0.721), and TmaxL (P = 0.905) between the patients with COPD and the control group. There was also no significant difference between diaphragmatic thickness and COPD severity, respiratory function (P = 0.410), and frequency of exacerbations (P = 0.881) and mMRC (P = 0.667). Conclusion: Diaphragmatic dysfunction in COPD is related to mobility restriction rather than muscle thickness.
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Diafragma , Enfermedad Pulmonar Obstructiva Crónica , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Diafragma/diagnóstico por imagen , Diafragma/patología , Diafragma/fisiopatología , Femenino , Humanos , Capacidad Inspiratoria/fisiología , Masculino , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico por imagen , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Enfermedad Pulmonar Obstructiva Crónica/patología , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , UltrasonografíaRESUMEN
OBJECTIVES: Lower respiratory tract infection is one of the most important causes of morbidity and mortality. However establishing a microbial diagnosis for patients with lower respiratory tract infection is still challenging and is often achieved in only half of cases by conventional methods. This study was designed to compare the fast responsive PCR method with the culture method in lower respiratory tract infections and to evaluate the reliability of multiplex PCR method. METHODS: One hundred ninety seven patients with the symptoms of acute lower respiratory tract infection, and diagnosed with community-acquired pneumonia, acute exacerbation of chronic obstructive pulmonary disease and exacerbations of bronchiectasis were included in the study. Both culture and PCR methods was performed for the isolation of most commonly seen bacteria, from sputum, nasopharyngeal swabs and bronchoalveolar lavage fluid samples. RESULTS: While at least one bacterial isolation was determined in 62 (31.5%) of all patients with culture method, this number increased to 125 (63.5%) with multiplex PCR. The bacteria most commonly identified by PCR were S. pneumoniae (32%) and H. influenzae (31%). There was a significant difference between PCR and culture in terms of multi-factor detection rates (p<0.005). Multiple bacteria were detected in only two cases in cultures; however, multiple pathogens were detected in 47 cases with PCR. CONCLUSIONS: Conventional methods, such as culture and serology are not always adequate to detect the pathogens in lower respiratory tract. Real-time PCR assays proved highly sensitive and rapid. The prevalence of bacteria and multiple agent detected by real-time PCR compared with culture was substantially higher. Widespread use of PCR methods, by providing the immediate and appropriate ''agent specific antibiotic treatment'' of LRTI, will help reduce failure and contributes to a reduction in antibiotic resistance.
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PURPOSE: Blood culture (BC) is the standard for diagnosing bloodstream infections. Available blood culture (BC) systems have been developed to shorten the time to detection (TTD) of positive BCs. This study aimed to evaluate the performance of the Mindray TDR automatic BC system by comparing it with the BacT/ALERT®3D system. METHODS: Sixteen reference strains and 14 clinical isolates were used. Serial dilutions were prepared from all bacterial and yeast colonies with a final concentration of 100 CFU/ml and 10 CFU/ml. The prepared solutions were simultaneously inoculated into the bottles of both systems and placed in blood culture devices. RESULTS: Three hundred and fifty-two (176 BacT/ALERT®3D and 176 Mindray TDR-X060) blood culture bottles were evaluated, 336 aerobic and 16 anaerobic. At both 10 CFU/ml and 100 CFU/ml dilution, there was no significant difference between the two systems in terms of mean detection times for all isolates (p = 0.965, p = 0.245). When evaluated according to the type of organism, the detection time of gram-positive bacteria at 10 CFU/ml dilution was significantly shorter in the BacT/ALERT system (p = 0.019), whereas detection time for yeasts was significantly shorter with the Mindray system (p = 0.047). The number of anaerobic bacteria was too small to draw statistical conclusions, but we observed a trend of shorter detection times in the Mindray TDR-X060 system. CONCLUSION: Two systems with similar operating principles showed different concentrations-dependent performances in terms of positivity detection times depending on the type of microorganism. Mindray TDR-X060 system has been found to be safe to use at high concentrations with this at lower concentrations further comparative studies are needed on the newly introduced Mindray system.
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Cultivo de Sangre , Cultivo de Sangre/métodos , Cultivo de Sangre/instrumentación , Humanos , Factores de Tiempo , Bacteriemia/diagnóstico , Bacteriemia/microbiología , Bacterias/aislamiento & purificaciónRESUMEN
An esophageal stricture is one of the complications that may develop during cancer treatment in children. Although more commonly associated with radiotherapy, recurrent mucositis has also been implicated. Presented herein is a case of a patient with acute lymphoblastic leukemia who suffered recurrent attacks of severe mucositis. Initial management of ensuing dysphagia included antifungal treatment for candida esophagitis. A subsequent upper endoscopy due to persistence of dysphagia revealed the presence of an esophageal stricture. Our aim in presenting this case is to emphasize the importance of considering a diagnosis of esophageal stricture in patients receiving anti-cancer treatment; early endoscopic intervention may be warranted in some patients.
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Estenosis Esofágica/etiología , Mucositis/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Niño , Dilatación/métodos , Estenosis Esofágica/terapia , Humanos , Masculino , RecurrenciaRESUMEN
INTRODUCTION: We aim to evaluate of the relationship between high mobility gene box-1 (HMGB1) levels and clinical, laboratory and histopathological findings at diagnosis and in remission in children with Celiac Disease (CD). MATERIAL AND METHODS: The study included 36 celiac patients at diagnosis, 36 celiac patients in remission, and 36 healthy controls. Patients with intestinal pathologies other than CD, and accompanying inflammatory and/or autoimmune diseases were excluded. Relationship between HMGB1 levels and clinical, laboratory and histopathological findings were evaluated. RESULTS: A total of 72 celiac patients [36 (18 girls, 18 boys, mean age 9.41±3.9 years) in group 1 and 36 (18 girls, 18 boys, mean age 9.91±3.36 years) in group 2] and 36 healthy controls in group 3 (19 girls, 17 boys, mean age 9.56±4 years) were included. The HMGB1 level was significantly higher in group 1 compared to group 2 and group 3 [36.63 (17.98-54.72) ng/ml vs 20.31 (16.89-29.79) ng/ml, p = 0.028 and 36.63 (17.98-54.72) ng/ml vs 20.38 (17.54-24.53) ng/ml p = 0.012, respectively]. A serum HMGB-1 level of 26.553 ng/ml was found to be a cut-off value for the CD with 61% sensitivity, 83% specificity, 78% positive predictive value, and 68% negative predictive value. Higher HMGB1 values were seen in patients with intestinal findings, anemia, anti-tissue transglutaminase IgA levels that were greater than 10 times upper limit of normal, and patients with a higher degree of atrophy as classified by Marsh-Oberhuber. CONCLUSIONS: In conclusion, it was thought that HMGB-1 might be a marker that reflects the severity of atrophy at the time of diagnosis and could be used to control dietary compliance in the follow-up. However, there is need for larger population studies in order to evaluate its value as a serological marker for the diagnosis and follow-up of CD and to find a more reliable cut-off value.
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BACKGROUND/AIMS: Pancreatitis is one of the leading causes of digestive system-related hospital admissions, and it has a genetic background in a considerable portion of the patients. In this study, we aimed to investigate the genetic risk factors of idiopathic pancreatitis in Turkish patients and the contribution of copy number variations to the pathogenesis. MATERIALS AND METHODS: Idiopathic pancreatitis is defined as failure to detect risk factors despite comprehensive clinical assessments. Next-generation sequencing and multiple ligand-dependent probe amplification of PRSS1, SPINK1, CTRC, and CFTR were performed. For further genotype-phenotype correlations, patients were also questioned for the age of onset, family history, and pancreatic divisum. RESULTS: A total of 68 idiopathic pancreatitis cases were enrolled. Variants with potential clinical significance of PRSS1 were identified in 13.4%, SPINK1 in 6.3%, CTRC in 4.7%, and CFTR in 26.5% of the patients. No copy number variants were seen in any of these genes. At least 7.4% of the participants had complex genetic etiology involving 2 genes. CONCLUSIONS: At least 42.6% of the participants had a potential genetic risk factor. Five novel genetic variants were identified, and distinctive genetic risk factors of Turkish population were shown. The results showed that genetic etiology was frequent in pancreatitis and it was even more prominent in patients with early-onset disease. Considering that genetic risk factors may be informative for decisionmaking in the treatment options in addition to providing extensive prognostic value and familial genetic consultation; clinicians need to be more eager to offer genetic tests to pancreatitis patients.
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Pancreatitis Crónica , Inhibidor de Tripsina Pancreática de Kazal , Humanos , Mutación , Inhibidor de Tripsina Pancreática de Kazal/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Variaciones en el Número de Copia de ADN , Tripsina/genética , Predisposición Genética a la EnfermedadRESUMEN
BACKGROUND: Lung cancer is the leading cause of cancer-related deaths worldwide. Before beginning lung cancer treatment, it is necessary to complete procedures such as suspecting lung cancer, obtaining a pathologic diagnosis, and staging. This study aimed to investigate the processes from suspicion of lung cancer to diagnosis, staging, and treatment initiation. METHODS: The study was designed as a multicenter and cross-sectional study. Patients with lung cancer from various health institutions located in all geographic regions of Turkey were included in the study. The sociodemographic and clinical characteristics of the patients, the characteristics of the health institutions and geographic regions, and other variables of the lung cancer process were recorded. The time from suspicion of lung cancer to pathologic diagnosis, radiologic staging, and treatment initiation, as well as influencing factors, were investigated. RESULTS: The study included 1410 patients from 29 different medical centers. The mean time from the initial suspicion of lung cancer to the pathologic diagnosis was 48.0 ± 52.6 days, 39.0 ± 52.7 days for radiologic staging, and 74.9 ± 65.5 days for treatment initiation. The residential areas with the most suspected lung cancer cases were highly developed socioeconomic zones. Primary healthcare services accounted for only 0.4% of patients with suspected lung cancer. The time to pathologic diagnosis was longer in the Marmara region, and the wait time for staging and treatment initiation was longer in Eastern and Southeastern Anatolia. Patients who presented to chest disease referral hospitals with peripheral lesions, those with early-stage disease, and those who were diagnosed surgically had significantly longer wait times. CONCLUSION: The time between pathologic diagnosis, staging, and treatment initiation in lung cancer was longer than expected. Increasing the role of primary healthcare services and distributing socioeconomic resources more equally will contribute to shortening the time to diagnosis and improve treatment processes for lung cancer.
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Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiología , Neoplasias Pulmonares/terapia , Turquía/epidemiología , Estudios Transversales , Estadificación de Neoplasias , Accesibilidad a los Servicios de SaludRESUMEN
OBJECTIVE: The vast majority of patients who hospitalized with coronavirus disease 2019 are given empirical antibiotic therapy. However, information on the frequency, microorganism species, and resistance rates of secondary bacterial infections in coronavirus disease 2019 patients are insufficient. We aimed to show the frequency of secondary infections and resistance conditions in patients with coronavirus disease 2019 hospitalized in the intensive care unit. METHODS: The results of tracheal aspirate culture, blood culture, and urine culture obtained from coronavirus disease 2019 patients - at least 2 days after their admission to the intensive care unit - were examined microbiologically. RESULTS: A total of 514 patients hospitalized in intensive care unit were included in our study. Tracheal aspirate, blood, or urine cultures were collected from 369 patients (71.8%). Bacterial reproduction was detected in at least one sample in 171 (33.3%) of all patients. The rate of respiratory tract infection and/or bloodstream infection was found to be 21%. Acinetobacter baumannii, Klebsiella pneumoniae, and Pseudomonas aeruginosa in tracheal aspirate culture; Coagulase-negative staphylococci, K. pneumoniae, and A. baumannii in blood culture; and Escherichia coli, K. pneumoniae, and Enterococcus faecalis in urine culture were the most common microorganisms. A. baumannii was resistant to most antibiotics except colistin and P. aeruginosa strains were resistant to most antibiotics except amikacin, colistin, cefepime, and imipenem. In K. pneumoniae, the highest meropenem sensitivity (73%) was observed; there was a strong resistance to most of the remaining antibiotics. CONCLUSIONS: We think that our study can be useful in choosing empirical antibiotic therapy in the coronavirus disease 2019 pandemic and reducing the mortality that may occur with secondary infection.
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Acinetobacter baumannii , Infecciones Bacterianas , COVID-19 , Coinfección , Neumonía , Antibacterianos/uso terapéutico , Infecciones Bacterianas/complicaciones , Infecciones Bacterianas/tratamiento farmacológico , COVID-19/complicaciones , Humanos , Pruebas de Sensibilidad Microbiana , Pseudomonas aeruginosa , SARS-CoV-2RESUMEN
BACKGROUND: The aim of this study was to determine the in vitro efficacy of intravenous (IV) fosfomycin against extensively drug-resistant Enterobacterales strains and the effect of glucose 6-phosphate (G6-P) on sensitivity results. MATERIAL METHOD: Thirty-two extensively drug-resistant Klebsiella pneumonia strains were included in the study. Detection of the carbapenemase genes was performed using the Gene-Xpert® System Carba R® kit. Susceptibility of IV fosfomycin was assessed using the agar dilution method. The agar dilution method was repeated using Muller-Hinton Agar medium without G6-P to assess the effect of G6-P on sensitivity results. RESULTS: All strains in the study produced carbapenemases and were resistant to all drugs tested, including carbapenems, piperacillin-tazobactam, ceftriaxone, and ceftazidime. Fosfomycin resistance was detected in 3 (9.3%) strains. When the sensitivity test was repeated without G6-P, fosfomycin resistance was detected in 82.7% of the fosfomycin-susceptible strains. The Gene-Xpert® System showed NDM-1 in 46.8%, OXA-48 in 18.7%, KPC in 3.1%, and NDM-1 + OXA-48 in 21.8% of the strains. OXA-48 was detected in one of the resistant strains, and none of the viable genes were detected in two of the resistant strains. CONCLUSION: This study shows that IV fosfomycin is a potentially important treatment alternative for infections caused by common resistant strains. Accurate results may not be obtained unless G6-P is used in the agar dilution method for in vitro susceptibility studies of fosfomycin.
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Antibacterianos/uso terapéutico , Enterobacteriaceae Resistentes a los Carbapenémicos/efectos de los fármacos , Enterobacteriaceae Resistentes a los Carbapenémicos/genética , Fosfomicina/uso terapéutico , Infecciones por Klebsiella/tratamiento farmacológico , Klebsiella pneumoniae/efectos de los fármacos , Klebsiella pneumoniae/genética , Administración Intravenosa , Antibacterianos/administración & dosificación , Fosfomicina/administración & dosificación , Variación Genética , Genotipo , Glucosa-6-Fosfato/metabolismo , HumanosRESUMEN
BACKGROUND: COVID-19 is a disease associated with diffuse lung injury that has no proven effective treatment yet. It is thought that glucocorticoids may reduce inflammation-mediated lung injury, disease progression, and mortality. We aimed to evaluate our patient's characteristics and treatment outcomes who received corticosteroids for COVID-19 pneumonia. METHODS: We conducted a multicenter retrospective study and reviewed 517 patients admitted due to COVID-19 pneumonia who were hypoxemic and administered steroids regarding demographic, laboratory, and radiological characteristics, treatment response, and mortality-associated factors. RESULTS: Of our 517 patients with COVID-19 pneumonia who were hypoxemic and received corticosteroids, the mortality rate was 24.4% (n = 126). The evaluation of mortality-associated factors revealed that age, comorbidities, a CURB-65 score of ≥ 2, higher SOFA scores, presence of MAS, high doses of steroids, type of steroids, COVID-19 treatment, stay in the intensive care unit, high levels of d-dimer, CRP, ferritin, and troponin, and renal dysfunction were associated with mortality. CONCLUSION: Due to high starting and average steroid doses are more associated with mortality, high-dose steroid administration should be avoided. We believe that knowing the factors associated with mortality in these cases is essential for close follow-up. The use of CURB-65 and SOFA scores can predict prognosis in COVID-19 pneumonia.
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Tratamiento Farmacológico de COVID-19 , Lesión Pulmonar , Neumonía , Corticoesteroides/efectos adversos , Ferritinas , Humanos , Estudios Retrospectivos , SARS-CoV-2 , Esteroides , TroponinaRESUMEN
BACKGROUND AND AIM: We aim to evaluate serum vitamin D levels, vitamin D receptor (VDR) expression in the intestinal epithelium, and their relation with epithelial barrier proteins and bone metabolism in children with Celiac disease (CD). METHODS: Immunostaining for VDR, Claudin-2 and E-cadherin was performed in duodenal samples of the patients with CD and controls. H-score [∑Pi(I+1)] where I is the intensity score and Pi is the corresponding percentage of stained cells was calculated for each samples. The clinic, laboratory and histopathological findings were compared between patients and controls. RESULTS: Thirty-six patients with CD and age and sex matched 36 controls were enrolled. 25-OH vitamin D levels were significantly lower in the patient group compared to the control group. The mean bone mineral density (BMD) value was significantly lower in patients with vitamin D deficiency compared to patients with normal vitamin D level. H-scores for both VDR and Claudin-2 were significantly lower in patient group when compared to the control group. H-scores for VDR, Claudin-2 and E-cadherin were significantly lower in patients with vitamin D deficiency compared to patients with normal vitamin D level. There were positive correlations between 25-OH vitamin D level and H-scores for VDR, E-cadherin and Claudin-2 in patient group. CONCLUSIONS: Our findings showed that vitamin D deficiency is common among children with CD. Expression of VDR and epithelial barrier proteins Claudin-2 and E-cadherin which have important roles in paracellular pathway, was decreased in children with CD in correlation with histological findings of disease severity. Furthermore, deficiency of vitamin D was related to decreased expression of VDR and epithelial barrier proteins E-cadherin and Claudin-2. These findings indicate that paracellular pathway structures responsible for calcium absorption are disturbed in CD which is aggravated by vitamin D deficiency.