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BACKGROUND: On February 6th, 2023, two consecutive earthquakes struck southeastern Türkiye with magnitudes of 7.7 and 7.6, respectively. This study aimed to analyze the clinical and laboratory findings, as well as management of pediatric victims with Crush Syndrome (CS) and Acute Kidney Injury (AKI). METHODS: The study included pediatric earthquake victims who were presented to Mersin University Hospital. Clinical and laboratory characteristics of the patients were collected retrospectively. RESULTS: Among 649 patients, Crush injury (CI), CS and AKI was observed in 157, 59, and 17 patients, respectively. White blood cell count (12,870 [IQR: 9910-18700] vs. 10,545 [IQR: 8355-14057] /µL, P < 0.001), C-reactive protein (51.27 [IQR: 14.80-88.78] vs. 4.59 [1.04-18.25] mg/L, P < 0.001) and myoglobin levels (443.00 [IQR: 198.5-1759.35] vs. 17 [11.8-30.43] ng/ml) were higher in patients with CS, while their sodium (IQR: 134 [131-137] vs. 136 [134-138] mEq/L, P < 0.001) levels were lower compared to non-CS patients. An increase in myoglobin levels was identified as an independent risk factor for developing CS (OR = 1.017 [1.006-1.027]). Intravenous fluid replacement was administered to the patients with CS at a dose of 4000 cc/m2/day. Hypokalemia was observed in 51.9% of the CS patients on the third day. All patients with AKI showed improvement and no deaths were reported. CONCLUSIONS: Hyponatremia and increase in inflammation markers associated with CS may be observed. An increase in myoglobin levels was identified as a risk factor for CS. Hypokalemia may be seen as a complication of vigorous fluid therapy during hospitalization.
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Lesión Renal Aguda , Síndrome de Aplastamiento , Terremotos , Humanos , Síndrome de Aplastamiento/sangre , Síndrome de Aplastamiento/terapia , Síndrome de Aplastamiento/complicaciones , Niño , Lesión Renal Aguda/etiología , Lesión Renal Aguda/terapia , Lesión Renal Aguda/sangre , Lesión Renal Aguda/diagnóstico , Masculino , Femenino , Estudios Retrospectivos , Preescolar , Adolescente , Proteína C-Reactiva/análisis , Mioglobina/sangre , LactanteRESUMEN
PURPOSE: On February 6, 2023, two earthquakes of magnitude 7.7 and 7.6 occurred consecutively in Turkey and Syria. This study aimed to investigate the predisposing factors for wound infection (WI) and the microbiological characteristics of wounds after earthquake-related injuries. METHODS: This descriptive study evaluated pediatric patients' frequency of WI, and the clinical and laboratory parameters associated with the development of WI were investigated. RESULTS: The study included 180 patients (91 female). The mean age of the patients was 123.9 ± 64.9 months and 81.7% (n = 147) of them had been trapped under rubble. Antibiotic treatment to prevent WI had been administered to 58.8% (n = 106) of all patients. WI was observed in 12.2% (n = 22) of the cases. In patients who developed WI, the incidence of exposure to a collapse, crush syndrome, compartment syndrome, multiple extremity injury, fasciotomy, amputation, peripheral nerve injury, thoracic compression, blood product use, intubation, and the use of central venous catheters, urinary catheters, and thoracic tubes were more frequent (p < 0.05). The need for blood product transfusion was associated with the development of WI (OR = 9.878 [95% CI: 2.504-38.960], p = 0.001). The negative predictive values of not developing WI at values of white blood cell count of < 11,630/mm3, creatine kinase < 810 U/L, potassium < 4.1 mEq/L, ALT < 29 U/L, AST < 32 U/L, and CRP < 45.8 mg/L were 93.7%, 96.8%, 90.8%, 93.3%, 100%, and 93.5%, respectively. Gram-negative pathogens (81%) were detected most frequently in cases of WI. Seventy-five percent of patients were multidrug- and extensively drug-resistant. CONCLUSION: This study leans empirical approach of our disaster circumstances. In cases with risk factors predisposing to the development of WI, it may be rational to start broad-spectrum antibiotics while considering the causative microorganisms and resistance profile to prevent morbidity.
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Terremotos , Infección de Heridas , Humanos , Femenino , Masculino , Niño , Infección de Heridas/epidemiología , Infección de Heridas/microbiología , Turquía/epidemiología , Preescolar , Adolescente , Siria/epidemiología , Factores de Riesgo , Antibacterianos/uso terapéutico , Incidencia , LactanteRESUMEN
BACKGROUND: This study evaluated of clinical characteristics, outcomes, and mortality risk factors of a severe multisystem inflammatory syndrome in children admitted to a the pediatric intensive care unit. METHODS: A retrospective multicenter cohort study was conducted between March 2020 and April 2021 at 41 PICUs in Turkey. The study population comprised 322 children diagnosed with multisystem inflammatory syndrome. RESULTS: The organ systems most commonly involved were the cardiovascular and hematological systems. Intravenous immunoglobulin was used in 294 (91.3%) patients and corticosteroids in 266 (82.6%). Seventy-five (23.3%) children received therapeutic plasma exchange treatment. Patients with a longer duration of the PICU stay had more frequent respiratory, hematological, or renal involvement, and also had higher D-dimer, CK-MB, and procalcitonin levels. A total of 16 patients died, with mortality higher in patients with renal, respiratory, or neurological involvement, with severe cardiac impairment or shock. The non-surviving group also had higher leukocyte counts, lactate and ferritin levels, and a need for mechanical ventilation. CONCLUSIONS: In cases of MIS-C, high levels of D-dimer and CK-MB are associated with a longer duration of PICU stay. Non-survival correlates with elevated leukocyte counts and lactate and ferritin levels. We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality. IMPACT: MIS-C is a life-threatening condition. Patients need to be followed up in the intensive care unit. Early detection of factors associated with mortality can improve outcomes. Determining the factors associated with mortality and length of stay will help clinicians in patient management. High D-dimer and CK-MB levels were associated with longer PICU stay, and higher leukocyte counts, ferritin and lactate levels, and mechanical ventilation were associated with mortality in MIS-C patients. We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality.
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Enfermedad Crítica , Síndrome de Respuesta Inflamatoria Sistémica , Humanos , Niño , Estudios de Cohortes , Unidades de Cuidado Intensivo Pediátrico , Factores de Riesgo , Lactatos , Estudios RetrospectivosRESUMEN
PURPOSE: Injuries increase the risk of venous thromboembolism (VTE). However, the literature on the management of anticoagulant therapy in pediatric patients with crush injury is limited. In this study, we aimed to share our experience about anticoagulant thromboprophylaxis in pediatric patients with earthquake-related crush syndrome. METHODS: This study included patients who were evaluated for VTE risk after the Turkey-Syria earthquake in 2023. Since there is no specific pediatric guideline for the prevention of VTE in trauma patients, risk assessment for VTE and decision for thromboprophylaxis was made by adapting the guideline for the prevention of perioperative VTE in adolescent patients. RESULTS: Forty-nine patients [25 males and 24 females] with earthquake-related crush syndrome had participated in the study. The median age of the patients was 13.5 (8.8-15.5) years. Seven patients (14.6%) who had no risk factors for thrombosis were considered to be at low risk and did not receive thromboprophylaxis. Thirteen patients (27.1%) with one risk factor for thrombosis were considered to be at moderate risk and 28 patients (58.3%) with two or more risk factors for thrombosis were considered to be at high risk. Moderate-risk patients (n = 8) and high-risk patients aged < 13 years (n = 11) received prophylactic enoxaparin if they could not be mobilized early, while all high-risk patients aged ≥ 13 years (n = 13) received prophylactic enoxaparin. CONCLUSION: With the decision-making algorithm for thyromboprophylaxis we used, we observed a VTE rate of 2.1% in pediatric patients with earthquake-related crush syndrome.
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Síndrome de Aplastamiento , Terremotos , Trombosis , Tromboembolia Venosa , Masculino , Femenino , Adolescente , Humanos , Niño , Anticoagulantes/uso terapéutico , Enoxaparina/uso terapéutico , Enoxaparina/efectos adversos , Tromboembolia Venosa/epidemiología , Tromboembolia Venosa/etiología , Tromboembolia Venosa/prevención & control , Síndrome de Aplastamiento/complicaciones , Síndrome de Aplastamiento/inducido químicamente , Síndrome de Aplastamiento/tratamiento farmacológicoRESUMEN
Epstein Barr virus (EBV) related lymphoproliferative diseases may occur in immunocompromised patients or patients with a history of drug use causing immunodeficiency. EBV positive mucocutaneous ulceration in the new classification of lymphoproliferative diseases in 2016 is very rare in children. Involvement occurs in the skin, oral mucosa, and gastrointestinal system. Gastric involvement is very rare in the literature. There is no case of gastric involvement in children. There are no specified modalities in the treatment of EBV positive mucocutaneous ulceration. We presented our pediatric patient with ataxia telangiectasia who presented with abdominal pain and difficulty swallowing and diagnosed with EBV positive mucocutaneous ulceration in the stomach. We started brentuximab vedotin during the treatment process, and complete remission was achieved after 6 cures of treatment. Our patient is the first case of EBV positive mucocutaneous ulceration in the pediatric case series.
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Infecciones por Virus de Epstein-Barr , Trastornos Linfoproliferativos , Enfermedades de la Piel , Niño , Infecciones por Virus de Epstein-Barr/complicaciones , Infecciones por Virus de Epstein-Barr/diagnóstico , Infecciones por Virus de Epstein-Barr/tratamiento farmacológico , Herpesvirus Humano 4 , Humanos , Trastornos Linfoproliferativos/diagnóstico , Enfermedades de la Piel/complicaciones , Estómago , Úlcera/etiologíaRESUMEN
Objectives: To determine the carboxyhemoglobin (COHb) levels of the patients admitted to the pediatric intensive care unit and investigate its relationship with prognosis. Methods: This retrospective observational study included patients aged one month to 18 years admitted to Mersin University Hospital pediatric intensive care unit from January 2020 to January 2021. Demographic characteristics, hospitalization causes, PRISM III, PELOD scores, hospitalization length, mechanical ventilation supports, transfusion needs, lactate and, SpCO levels of all patients were determined. SpCO levels of the excitus and surviving patients were compared, and the relationship with mortality was investigated. Results: Total 365 patients were included in the study. The median carboxyhemoglobin level of the excitus patients was statistically significantly higher when compared to the level of the surviving patients [(1.8(1.4-2,4) vs 0.65(0-1) p<0.001]). For mortality prediction, the cut-off point for SpCO, which was determined with 100% sensitivity and 96.5% specificity, was calculated as 1.3. Conclusion: Since SpCO levels are increased in critically ill children and correlate with increased PICU mortality, SpCO may be a predictive marker for prognosis in PICU.
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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.
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Reanimación Cardiopulmonar , Cardioversión Eléctrica , Adulto , Niño , Estudios Transversales , Personal de Salud , Humanos , TurquíaRESUMEN
OBJECTIVE: The objective of this study was to detect variables associated with burnout syndrome (BS) in pediatric intensive care units (PICUs) and pediatric emergency medicine departments (PEDs) in high-volume centers from different parts of Turkey. METHODS: An observational, cross-sectional multicenter study was performed. The Maslach Burnout Inventory scale was administered to all of health care providers working in PICUs and PEDs. In this study, health care providers were defined as physicians, nurses, and other staff (secretaries, cleaning and patient care staff) working in PICU and PEDs. RESULTS: A total of 570 participants completed the survey. The major finding of this study was that 76.1% (n = 434) of PICU and PED health care professionals had BS. The most prominent subscale of BS was emotional exhaustion (62.5%). The rate of BS was higher among health care providers working in PEDs compared with PICUs (79.1% vs 73.7%, P = 0.04). The frequency of BS according to emotional exhaustion and depersonalization subscales was higher in health care providers of PEDs. The rate of BS was also significantly higher in younger employees, females, those working 51 or more hours totally in a week, those having a low monthly salary, those single or divorced, those without children, those with no childcare at home, those not owning a home, those not doing regular exercise and not having regular breakfast, those with total employment time of less than 1 year, and those not having a car or not having a hobby. In PEDs, when the daily evaluated number of patients was equal to or more than 44 (sensitivity, 88%; specificity, 66%), it predicted the occurrence of BS. In PICUs, when the number of patients cared for by 1 nurse was equal to or more than 3, it predicted the occurrence of BS (sensitivity, 78%; specificity, 62%). CONCLUSIONS: By creating early intervention programs to prevent BS, shortages of health care professionals can be avoided and the costs of health care expenditures related to infections can be decreased.
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Agotamiento Profesional , Médicos , Agotamiento Profesional/epidemiología , Niño , Estudios Transversales , Servicio de Urgencia en Hospital , Femenino , Humanos , Unidades de Cuidado Intensivo PediátricoRESUMEN
Invasive Candida infections are one of the most important risk factors for the increasing mortality of immunocompromised patients with comorbidities in intensive care units. In this study, it was aimed to evaluate the mortality rate and risk factors affecting mortality in patients followed up with the diagnosis of invasive candidiasis in our pediatric intensive care unit. Patients who were between the ages of 1 month and 18 years followed up in the paediatric intensive care unit with invasive candidiasis between 2014 and 2018, were included in the study. The demographic characteristics of the patients, fever and hypotension, the Candida species, use of broad-spectrum antibiotics, blood transfusion, parenteral nutrition, invasive interventions, use of mechanical ventilation and laboratory test results were retrospectively analyzed and the relationship with mortality was statistically determined. A total of 85 patients, 45 girls, and 40 boys were included in the study. The death rate was 38.8% (n= 33). Candida albicans (48%) was the most common species for all isolates followed by Candida parapsilosis (21%), Candida tropicalis (15%), and others (16%). No statistically significant relationship was detected between the central venous catheter, broad-spectrum antibiotic and corticosteroid treatment, parenteral nutrition, gender difference, surgical operation, patient culture samples, isolated Candida species, and mortality (p> 0.05). A statistically significant relationship was found between blood transfusion, thrombocytopenia, and leukopenia, the first positive culture time since hospitalization, and the duration of antibiotic treatment and mortality (p<0.05). A statistically significant correlation was found with the presence of hypotension, one of the clinical markers associated with mortality (p<0.05) but the same relationship was not found with the presence of fever (p> 0.05). The mortality rate is high in candidiasis patients in pediatric intensive care units. Blood transfusions, long-term use of broad-spectrum antibiotics, and hypotension increase mortality.
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Candidiasis Invasiva , Antifúngicos/uso terapéutico , Candida , Candidiasis Invasiva/epidemiología , Niño , Femenino , Humanos , Lactante , Unidades de Cuidados Intensivos , Unidades de Cuidado Intensivo Pediátrico , Masculino , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: The aim of this study was to evaluate the diagnostic value of red blood cell distribution width (RDW) in children with acute appendicitis. METHODS: In this retrospective study, a total of 344 children aged ≤18 years with clinically suspected acute appendicitis who underwent appendectomy between January 2007 and January 2014 were reviewed, and 200 healthy controls of the same age group were included. Based on histopathology, the patients were classified as having normal appendix, simple or perforated appendicitis, and preoperative white blood cell count (WBC), C-reactive protein (CRP) and RDW were compared. RESULTS: Compared with the controls, mean WBC, CRP and RDW were significantly higher in the appendectomy group (P <0.001). The children with simple or perforated appendicitis had significantly higher WBC, CRP and RDW than did those with normal appendix (P <0.001). Mean WBC and CRP were significantly higher in the children with perforated appendicitis (P <0.001), but no statistically significant difference was found in RDW between the simple and perforated appendicitis groups (P = 0.081). CONCLUSIONS: Children with histologically proven acute appendicitis have higher RDW than children without appendicitis, but the diagnostic value of RDW was not superior to WBC or CRP in children with acute appendicitis. Although higher RDW may be valuable for aiding the diagnosis of acute appendicitis in children, it is not a useful marker for predicting perforated appendicitis.
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Apendicectomía , Apendicitis/diagnóstico , Proteína C-Reactiva/metabolismo , Eritrocitos/patología , Enfermedad Aguda , Adolescente , Apendicitis/sangre , Apendicitis/cirugía , Biomarcadores/sangre , Niño , Preescolar , Diagnóstico Diferencial , Recuento de Eritrocitos , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
OBJECTIVE: To determine the effect of fibroblast growth factor 2 on cognitive function in neonatal rats with hypoxic-ischaemic brain injury. METHODS: The randomised controlled study was conducted from January to June 2011 at Mersin University, School of Medicine, Experimental Animals Research Laboratory and Physiology Behaviour Laboratory, Mersin, Turkey. It included 7-d-old male rats that were randomised into four groups: fibroblast growth factor 2-20, fibroblast growth factor 2-40, control and sham. All the rats, except those in the sham group, were kept in a hypoxia chamber containing 8% oxygen for 2 hours following ligation of the right carotid artery. After hypoxic-ischaemic brain injury was induced, 20 ng g-1 or 40 ng g-1 of fibroblast growth factor 2 was administered via the intraperitoneal route. The terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labelling method was used to evaluate neuronal apoptosis. The Morris water maze (MWM) test was administered to the rats at age 14 weeks. RESULTS: Of the 78 rats on the study, 18 (23%) were in the sham group, while the other three groups had 20 (25.6%) rats each. The number of apoptotic neurons in the right hemisphere in the experimental groups was significantly lower than in the control group (p=0.004 and p<0.001). The number of apoptotic neurons in the right hemisphere in the fibroblast growth factor 2-40 group was significantly lower than in the fibroblast growth factor 2-20 group (p<0.001). Moreover, fibroblast growth factor 2improved Morris water maze test cognitive performance in a dose-dependent manner. CONCLUSIONS: Fibroblast growth factor 2 treatment reduced neuronal apoptosis and improved cognitive functioning in neonatal rats with experimentally-induced hypoxic-ischaemic brain injury.
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Cognición , Factor 2 de Crecimiento de Fibroblastos/uso terapéutico , Hipoxia-Isquemia Encefálica/psicología , Hipoxia-Isquemia Encefálica/terapia , Animales , Animales Recién Nacidos , Apoptosis , Modelos Animales de Enfermedad , Hipoxia-Isquemia Encefálica/patología , Masculino , Neuronas/patología , Distribución Aleatoria , RatasRESUMEN
BACKGROUND: In our earthquake-prone country, it is crucial to gather data from regional hospitals following earthquakes. This information is essential for preparing for future disasters and enhancing healthcare services for those affected by earthquakes. This study aimed to evaluate the Pediatric Trauma Score (PTS) and the Shock Index, Pediatric Age-Adjusted (SIPA), in children affected by earthquakes, to provide clinicians with insights into the severity of trauma and hemodynamic stability. METHODS: The study included patients admitted to our hospital's pediatric emergency service within the three weeks following the earthquake. We evaluated their age, sex, admission vital signs, mechanical ventilation requirements, development of crush syndrome, length of hospital stay, PTS, and SIPA. RESULTS: Our study included 176 children (89 females and 87 males) with trauma. Fifty-eight (32.95%) children had crush syndrome, and 87 (49.43%) were hospitalized. The median PTS was 10 (ranging from -3 to 12), and the median SIPA was 1.00 (ranging from 0.57 to 2.10). We observed a negative correlation between the time spent under debris and PTS (r=-0.228, p=0.002) and a positive correlation with the SIPA score (r=0.268, p<0.001). The time spent under debris (p<0.001) and SIPA score (p<0.001) were significantly higher in hospitalized children. PTS was significantly lower in hospitalized children than in others. A PTS cutoff point of 7.5, and a SIPA cutoff point of 1.05, predicted hospitalization in all children. Time spent under debris and SIPA were significantly higher in children with crush syndrome than in others (p<0.001). PTS at a cutoff point of 8.5 and SIPA at a cutoff point of 1.05 predicted crush syndrome in all children. CONCLUSION: PTS and SIPA are important practical scoring systems that can be used to predict the severity of trauma, hospitalization, crush syndrome, and the clinical course in pediatric patients admitted to the hospital due to earthquake trauma.
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Síndrome de Aplastamiento , Terremotos , Femenino , Masculino , Humanos , Niño , Hospitalización , Hospitales , PacientesRESUMEN
BACKGROUND: The aim of this study is to investigate the effectiveness of perfusion index (PI) measured by non-invasive pulse oximetry in the evaluation of pediatric trauma patients and to show its correlation with pediatric trauma score (PTS). METHODS: Patients hospitalized in the pediatric intensive care unit due to trauma were examined between March 2017 and March 2018. Characteristic variables of the patients, Pediatric Index of Mortality 2 score, Pediatric Logistic Organ Dysfunction score, PTS, type of trauma, number of systems affected by trauma, mechanical ventilation, transfusion, hemoglobin, lactate, PI at admission, length of ICU stay, and prognosis were recorded. RESULTS: Ninety-one pediatric trauma patients were included in the study. The majority of the patients were male (64.8%), with a mean age of 99.47±71.27 months, the most common cause of trauma was an out of-vehicle traffic accident. There was a positive correlation between PI and PTS (p<0.05). In patients with PTS TS ≤8, the mean PI was 0.89, the standard deviation was 0.35; however, the mean PI was 1.77, the standard deviation was 0.95 in the group with PTS >8, and it was statistically significant (p=0.000). CONCLUSION: PI can be used for non-invasive and rapid assessment of unstable patients separately or in combination with PTS in pediatric trauma patients.
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Transfusión Sanguínea , Índice de Perfusión , Accidentes de Tránsito , Niño , Femenino , Hospitalización , Humanos , Masculino , PronósticoRESUMEN
Introduction: Sandestig-Stefanova syndrome is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the NUP188 gene. Case Presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral congenital cataracts, ambiguous genitalia, hypospadias, undescended testis, and facial dysmorphic findings (hypertelorism, high palate, micrognathia, microphthalmia, low-set ears) were detected. Discussion: In our patient, a homozygous c.1087C>T (p.Gln363Ter) variant was detected in exon 11 of the NUP188 (NM_015354.3) gene. The mother and father were found to be heterozygous carriers of this variant. All patients with the diagnosis of Sandestig-Stevanova syndrome reported in the literature are female. Our patient is the first male patient reported with this syndrome. In addition, immunodeficiency, congenital hypothyroidism, biotinidase deficiency, undescended testis, hypospadias, and ambiguous genitalia are defined for the first time in this syndrome. Our patient is the first case of Sandestig-Stefanova syndrome reported from Turkey. In this study, Sandestig-Stefanova syndrome with a novel pathogenic NUP188 gene variant is presented.
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Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease characterised by multisystemic involvement, including bone tissue. Deformities and reduced bone mass are the main bone manifestations in NF1. Quantitative computed tomography (QCT) provides true volumetric bone mineral density (BMD) measurement. This study aimed to evaluate bone metabolism parameters and BMD in children with NF1 using QCT. Methods: The data of 52 paediatric NF1 patients (23 female, 29 male) was evaluated retrospectively. We investigated anthropometric measurements, biochemical parameters like total calcium, phosphate, magnesium, alkaline phosphatase, 25-hydroxyvitamin D (25OHD), parathyroid hormone, calcitonin, urinary calcium/creatinine ratio, and QCT parameters like lumbar trabecular and cortical BMD, trabecular area and cortical thickness. Comparisons of gender and puberty status were performed. Results: 25% of patients had skeletal deformities and 42.3% had 25OHD inadequacy (<20 ng/mL). The frequency of 25OHD inadequacy was significantly higher in pubertal/postpubertal patients than prepubertal patients (61.9% vs. 29.0%, P = 0.019). Trabecular BMD Z-score was <-2.0 in 11.5% of patients; all with low BMD were at the pubertal/postpubertal stage. There was a significant negative correlation between age and trabecular Z-score (r = -0.41, P = 0.003). Mean cortical BMD was statistically similar between the genders and puberty groups. Puberty status, anthropometric Z-scores, and biochemical and QCT parameters were statistically similar between the genders (P > 0.05). Conclusion: Paediatric NF1 patients may present with low BMD and 25OHD inadequacy, especially at puberty. QCT may be a useful tool to evaluate trabecular and cortical bone separately in NF1 patients.
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Neurofibromatosis 1 , Femenino , Humanos , Masculino , Niño , Absorciometría de Fotón/métodos , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico por imagen , Calcio , Estudios Retrospectivos , Densidad Ósea , Tomografía Computarizada por Rayos X/métodosRESUMEN
The objective of the study is to evaluate the clinical and neuroradiological findings, the risk factors for recurrence and the prognosis in patients with posterior reversible encephalopathy syndrome developed secondary to acute hypertension in children. The study was conducted between 2008 and 2019 at Mersin University Faculty of Medicine. A total of 49 episodes were evaluated retrospectively in 38 patients with PRES secondary to acute hypertension. The demographic data, etiology, and clinical and neuroradiological findings were recorded. Twenty-one (55.3%) patients were female; the mean age was 11.8 years. The etiology of acute hypertension in 29 (76.3%) patients was end-stage renal disease (ESRD). The most common clinical findings were seizure (81.6%) and altered consciousness (79.6%). Status epilepticus developed in eight (16.3%) episodes. MRI lesions were atypical in 33 episodes (67.3%). In eight (21%) patients, PRES recurred. Irreversible brain damage was detected after PRES in three (7.8%) patients. C-reactive protein and erythrocyte sedimentation rate were elevated in 82.2% and 71.4% of the episodes, respectively. A statistically significant relationship was found between the recurrence, the duration of hospitalization at the PICU, SE and the occurrence of irreversible lesion (p = 0.013, p = 0.015, p = 0.001 respectively). Also, there were statistically significant relationships between recurrence and ESRD; epilepsy and recurrences; SE and irreversible brain damage (p = 0.02, p = 0.012, p = 0.025 respectively). Although PRES is usually known to have a good prognosis, the mortality and morbidity rates may increase in the long-term follow-up as in our study. In this study, the etiology, the presence of status epilepticus, PICU history, atypical MRI lesions and increased inflammatory markers were found to be important for the prognosis in PRES.
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Hipertensión/diagnóstico por imagen , Hipertensión/fisiopatología , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/fisiopatología , Enfermedad Aguda , Adolescente , Niño , Preescolar , Electroencefalografía/métodos , Electroencefalografía/tendencias , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/tendencias , MasculinoRESUMEN
Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Patients with coexistence of GCT and GD have been reported previously. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intra-abdominal synovial sarcoma one year after the treatment. This is the first report, to our knowledge, of synovial sarcoma associated with XY GD.