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1.
Acta Neurol Belg ; 2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38879637

ABSTRACT

AIM: Here we present the patients whose body mass index is in the normal range and who visited with the complaint of headache. The differences in lipid profile in this group compared to healthy children and the risk factors that may be associated with this were investigated. MATERIALS AND METHODS: 195 patients who applied to the Pediatric Neurology outpatient clinic with headache complaints between April 2021 and October 2022 were retrospectively examined. 201 healthy children were included as the control group. The gender, age, headache type, lipid profile blood test after at least 8 h of fasting [total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride (TG), and TG/HDL ratio], and body mass index (BMI) were recorded. Those patients who had a BMI range of 18.5-24.9 kg/m2 were included in the study. RESULTS: The study group had 195 patients; 118 girls (60.5%). The average age was 12,57 ± 3,48 years, and 114 patients (58.5%) had tension-type headaches and 81 (41.5%) had migraine-type headaches. There was no significant difference in age and gender between the two groups. Blood pressure, folate, and thyroid function tests were normal. In the lipid profile, a significant difference was observed between total cholesterol, LDL, HDL, and TG in the study group compared to the control group (p < 0.05). However, there was no difference in the TG/HDL ratio between those two groups. No significant statistical difference was observed in the lipid profile and other laboratory findings between headache types. CONCLUSION: In children presenting with headache complaints, which can be both worrying for families and cause significant loss of functionality, it is detectable (obviously) that headache is an important marker for dyslipidemia; even if BMI is in a normal range. The lipid profile should be seen both to control the complaint with an appropriate diet and to observe the risk of future atherosclerotic processes.

2.
Cir Cir ; 92(3): 307-313, 2024.
Article in English | MEDLINE | ID: mdl-38862103

ABSTRACT

OBJECTIVE: Estimating which patients might require surgical intervention is crucial. Patients with complete bowel obstructions exhibit disrupted enterohepatic cycles of bile and bacteremia due to bacterial translocation. The goal of this study was to develop a prediction index using laboratory inflammatory data to identify patients who may need surgery. MATERIALS AND METHODS: The patients were divided into two groups based on their management strategy: Non-operative management (Group 1) and surgical management (Group 2). RESULTS: The indirect bilirubin, direct bilirubin, and total bilirubin were significantly higher in Group 2 than in Group 1 (p = 0.001, p < 0.001, and p < 0.001, respectively). The neutrophil-to-lymphocyte ratio (NLR), platelet-to-NLR (PNLR), and direct bilirubin-to-lymphocyte ratio (DBR) were significantly higher in Group 2 compared to Group 1 (p = 0.041, p = 0.020, and p < 0.001, respectively). In group 2, 78% have viable bowels. Resection was performed in 40% of cases, with 12% mortality and a 10-day average hospital stay. DLR performs the best overall accuracy (72%), demonstrating a well-balanced sensitivity (62%) and specificity (81%). CONCLUSIONS: This study suggested that DBR is a more accurate predictive index for surgical intervention in pediatric adhesive small bowel obstruction patients compared to NLR and PNLR, providing valuable guidance for treatment strategies.


OBJETIVO: Desarrollar un índice de predicción utilizando datos inflamatorios de laboratorio para identificar qué pacientes podrían necesitar cirugía. MÉTODO: Los pacientes se dividieron en dos grupos según su estrategia de manejo: no quirúrgico (grupo 1) o quirúrgico (grupo 2). RESULTADOS: Las bilirrubinas indirecta, directa y total fueron significativamente más altas en el grupo 2 que en el grupo 1 (p = 0.001, p < 0.001 y p < 0.001, respectivamente). Las relaciones neutrófilos-linfocitos, plaquetas-neutrófilos-linfocitos y bilirrubina directa-linfocitos fueron significativamente más altas en el grupo 2 que en el grupo 1 (p = 0.041, p = 0.020 y p < 0.001, respectivamente). En el grupo 2, el 78% tenían intestino viable. Se realizó resección en el 40% de los casos, con un 12% de mortalidad y una estancia hospitalaria promedio de 10 días. La relación bilirrubina directa-linfocitos tuvo la mejor precisión general (72%), demostrando una sensibilidad bien equilibrada (62%) y una buena especificidad (81%). CONCLUSIONES: Este estudio sugiere que la relación bilirrubina directa-linfocitos es un índice predictivo más preciso para la intervención quirúrgica en pacientes pediátricos con obstrucción adhesiva de intestino delgado en comparación con la de neutrófilos-linfocitos y la de plaquetas-neutrófilos-linfocitos, proporcionando una valiosa orientación para las estrategias de tratamiento.


Subject(s)
Bilirubin , Intestinal Obstruction , Intestine, Small , Humans , Intestinal Obstruction/surgery , Intestinal Obstruction/blood , Intestinal Obstruction/etiology , Bilirubin/blood , Male , Female , Tissue Adhesions/blood , Intestine, Small/surgery , Infant , Lymphocyte Count , Neutrophils , Lymphocytes , Child, Preschool , Retrospective Studies , Sensitivity and Specificity , Child , Length of Stay/statistics & numerical data , Predictive Value of Tests
3.
Cir Cir ; 92(2): 165-173, 2024.
Article in English | MEDLINE | ID: mdl-38782389

ABSTRACT

OBJECTIVE: The current study aimed to explore the potential protective effect of Passiflora Incarnata L., (PI) in treating IR injury after testicular torsion in rats. MATERIALS AND METHODS: This research investigated the impact of PI on IR damage in male Wistar albino rats. Animals were divided to three groups: group 1 (sham), group 2 (IR), and group 3 (IR+PI). RESULTS: The malondialdehyde (MDA), myeloperoxidase (MPO) and glutathione (GSH) levels did not significantly differ across the groups (p = 0.830, p = 0.153 and p=0.140, respectively). However, Group 3 demonstrated a superior total antioxidant status (TAS) value compared to Group 2 (p = 0.020). Concurrently, Group 3 presented a significantly diminished mean total oxidant status (TOS) relative to Group 2 (p = 0.009). Furthermore, Group 3 showed a markedly improved Johnsen score relative to Group 2 (p < 0.01). IR caused cell degeneration, apoptosis, and fibrosis in testicular tissues. PI treatment, however, mitigated these effects, preserved seminiferous tubule integrity and promoted regular spermatogenesis. Furthermore, it reduced expression of tumor necrosis factor-alpha (TNF-α), Bax, and Annexin V, signifying diminished inflammation and apoptosis, thereby supporting cell survival (p < 0.01, p < 0.01, p < 0.01, respectively). CONCLUSIONS: This study revealed that PI significantly reduces oxidative stress and testicular damage, potentially benefiting therapies for IR injuries.


OBJETIVO: Explorar el posible efecto protector de Passiflora incarnata L. (PI) en el tratamiento de la lesión por isquemia-reperfusión (IR) después de una torsión testicular en ratas. MÉTODO: Se estudió el impacto de Passiflora incarnata en el daño por IR en ratas Wistar albinas machos. Los animales se dividieron tres grupos: 1 (simulado), 2 (IR) y 3 (IR+PI). RESULTADOS: Los niveles de malondialdehyde (MDA), myeloperoxidase (MPO) y glutathione (GSH) no difirieron significativamente entre los grupos (p = 0.830, p = 0.153 y p = 0.140, respectivamente). Sin embargo, el grupo 3 tuvo un valor de estado antioxidante total (TAS) superior en comparación con el grupo 2 (p = 0.020). Al mismo tiempo, el grupo 3 presentó un estado oxidante total (TOS) medio significativamente disminuido en comparación con el grupo 2 (p = 0.009). El grupo 3 mostró una mejora notable en la puntuación de Johnsen en comparación con el grupo 2 (p < 0.01). La IR causó degeneración celular, apoptosis y fibrosis en los tejidos testiculares. El tratamiento con PI mitigó estos efectos, preservó la integridad de los túbulos seminíferos y promovió la espermatogénesis regular. Además, redujo la expresión de factor de necrosis tumoral alfa, Bax y anexina V, lo que significa una disminución de la inflamación y de la apoptosis, respaldando así la supervivencia celular (p < 0.01, p < 0.01 y p < 0.01, respectivamente). CONCLUSIONES: Este estudio reveló que PI reduce significativamente el estrés oxidativo y el daño testicular, beneficiando potencialmente las terapias para lesiones por IR.


Subject(s)
Disease Models, Animal , Passiflora , Rats, Wistar , Reperfusion Injury , Spermatic Cord Torsion , Animals , Male , Spermatic Cord Torsion/complications , Spermatic Cord Torsion/drug therapy , Reperfusion Injury/prevention & control , Rats , Passiflora/chemistry , Plant Extracts/therapeutic use , Plant Extracts/pharmacology , Antioxidants/pharmacology , Antioxidants/therapeutic use , Apoptosis/drug effects , Phytotherapy , Malondialdehyde/analysis , Malondialdehyde/metabolism , Testis/drug effects , Oxidative Stress/drug effects , Glutathione/metabolism , Peroxidase/metabolism , Peroxidase/analysis , Tumor Necrosis Factor-alpha/analysis , Tumor Necrosis Factor-alpha/metabolism , Spermatogenesis/drug effects
4.
Ulus Travma Acil Cerrahi Derg ; 29(12): 1344-1350, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38073455

ABSTRACT

BACKGROUND: This study aimed to investigate whether Passiflora Incarnata (PI) has a protective effect against ischemia-reperfu-sion (IR)-induced oxidative and inflammatory ovarian damage. METHODS: The effects of PI on ovarian ischemia-reperfusion injury were investigated in female Wistar albino rats. The animals were randomly divided into three groups: Group 1 (sham), Group 2 (IR), and Group 3 (IR+PI). RESULTS: The mean levels of Malondialdehyde (MDA), Myeloperoxidase (MPO), and Total Oxidant Status (TOS) were higher in the IR group (p=0.025, p<0.001, and p=0.016, respectively). The Total Antioxidant Status (TAS) levels were lower in the IR group (p=0.005). Immunostaining revealed significant differences across the groups for Tumor necrosis factor-alpha (TNF-α): 13.84%, 49.51%, and 22.51% for Groups 1, 2, and 3, respectively (p<0.01). Bax: 10.53%, 46.74%, and 26.46% for Groups 1, 2, and 3, respectively (p<0.01). Annexin V: 12.24%, 44.86%, and 23.28% for Groups 1, 2, and 3, respectively (p<0.01). The mean scores for hemorrhage, inflammation, follicular degeneration, and congestion showed significant variations among the groups, all registering p<0.001. CONCLUSION: Passiflora Incarnata exhibited antioxidant, anti-inflammatory, and anti-apoptotic properties, promoting cell survival, histologically protecting ovarian tissue, and ameliorating IR injury by reducing oxidative stress.


Subject(s)
Passiflora , Reperfusion Injury , Humans , Rats , Female , Animals , Antioxidants/pharmacology , Rats, Wistar , Ovarian Torsion , Oxidative Stress , Reperfusion Injury/drug therapy , Reperfusion Injury/prevention & control , Reperfusion Injury/pathology , Ischemia
5.
Pediatr Int ; 64(1): e14951, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34390069

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessively inherited disease. Clinical findings vary by age of the patient, the organ systems involved, and the severity of the CFTR gene mutation. Pancreatic and liver involvement is prominent and exocrine pancreatic insufficiency is observed in the majority of patients. Point shear wave elastography (pSWE) is a non-invasive method that can quantitatively determine tissue elasticity and stiffness. In this study, the morphological evaluation of the pancreas was performed using the pSWE technique in pediatric patients diagnosed with CF. The effectiveness of this method for the early detection of pancreatic insufficiency was investigated. METHODS: Fifty-five patients with CF (24 girls, 31 boys) and 60 healthy children (29 girls, 31 boys) without any chronic diseases and who were suitable for the pSWE examination were included in the study. RESULTS: The mean value of pSWE was 1.12 ± 0.16 in the healthy group and 0.97 ± 0.16 in the patients with cystic fibrosis. There was a statistically significant difference between the two groups (P < 0.001). Significant negative correlations were found between pSWE and age (r = -0.319; P = 0.018), height (r = -0.293; P = 0.03), serum glucose (r = -0.346; P = 0.01), HbA1C (r = -0.592; P = 0.02), and duration of the disease (r = -0.806; P < 0.001). CONCLUSIONS: Investigating pancreatic elasticity and detecting pancreatic insufficiency using pSWE (a simple, inexpensive, and non-invasive method) in the early period before overt laboratory and clinical symptoms of EPI appear can contribute positively to long-term results in young patients with CF.


Subject(s)
Cystic Fibrosis , Elasticity Imaging Techniques , Exocrine Pancreatic Insufficiency , Adolescent , Child , Chronic Disease , Cystic Fibrosis/diagnostic imaging , Elasticity Imaging Techniques/methods , Exocrine Pancreatic Insufficiency/diagnosis , Exocrine Pancreatic Insufficiency/etiology , Female , Humans , Male , Pancreas/diagnostic imaging
6.
Turk Arch Pediatr ; 56(5): 463-468, 2021 Sep.
Article in English | MEDLINE | ID: mdl-35110115

ABSTRACT

OBJECTIVE: Although many pediatric studies on children infected with coronavirus disease 2019 (COVID-19) have been published, the diagnosis, clinical symptoms, laboratory findings, and treatment of COVID-19 in children are still unclear. MATERIALS AND METHODS: This study was conducted with an aim to examine the hematological findings of symptomatic pediatric patients diagnosed with COVID-19 in May 2020 at the Pandemic Hospital in Dicle University. Patient records were evaluated retrospectively. This study involved 59 symptomatic pediatric patients with a definite diagnosis of COVID-19 who had positive SARS-CoV-2 RT-PCR test results on nasopharyngeal swab between March 15, 2020 and May 31, 2020. RESULTS: The records of a total of 10 (16.9%) patients under the age of 1; 21 (35.6%) patients aged 1-10 years, and, 28 (47.5%) patients aged 10-18 years, who had been diagnosed with COVID-19 were evaluated. Based on severity, 35 (59.3%) patients were in the mild group (group 1) and 24 (40.7%) patients were in the moderate-severe group (group 2). The blood parameters of WBC, neutrophil, lymphocyte, monocyte, and thrombocyte counts, the hemoglobin (Hgb) level, and NLR, PLR, MPV, fibrinogen, ferritin, and D-dimer levels were compared between groups, the difference was not statistically significant (P > .05). LDH was higher in group 2 (P = .014). CONCLUSION: Since children infected with COVID-19 show mild clinical symptoms or are asymptomatic, fewer pediatric patients may be detected than adults. Therefore, it should be known that the laboratory findings typical for adults may not accompany the disease in pediatric cases. More studies are needed to determine the most appropriate COVID-19 treatment approach for children, as hospitalization history and testing rates are less reported among children.

7.
Pediatr Pulmonol ; 55(12): 3587-3594, 2020 12.
Article in English | MEDLINE | ID: mdl-32991038

ABSTRACT

BACKGROUND: The novel coronavirus disease (Covid-19) can progress with mild to moderate or self-limiting clinical findings in children. The aim of this study was to investigate the disease features of Covid-19 in Turkish children. METHODS: Children diagnosed by the method of real-time reverse transcription-polymerase chain reaction for Covid-19 at the Dicle University Department of Pediatric, between April and June 2020, were evaluated. Hospital records were investigated retrospectively. RESULTS: One hundred and five patients children with the mean age of 108.64 ± 65.61 months were enrolled in this study. The most common cause of transmission in pediatric patients was in contact with a family member diagnosed with COVID-19 (n = 91, 86.7%). The most common admission complaints were dry cough (n = 17, 16.2%), fever (n = 16, 15.2%), lassitude and fatigue (n = 14, 13.3%) respectively. More than 95% of all children with Covid-19 were asymptomatic, mild, or moderate cases. CRP was identified only independent factor associated with long duration of hospitalization. CONCLUSION: The results of this study show the effect of Covid-19 on Turkish children. A clear understanding of the local epidemiology of corona virus infections and identification of risk factors are critical for the successful implementation of the prevention and control program.


Subject(s)
Asymptomatic Infections , C-Reactive Protein/immunology , Coronavirus Infections/physiopathology , Length of Stay/statistics & numerical data , Pneumonia, Viral/physiopathology , Adolescent , Betacoronavirus , COVID-19 , Child , Child, Preschool , Coronavirus , Coronavirus Infections/diagnostic imaging , Coronavirus Infections/immunology , Cough/physiopathology , Fatigue/physiopathology , Female , Fever/physiopathology , Hospitalization , Humans , Infant , Lung/diagnostic imaging , Male , Pandemics , Pneumonia, Viral/diagnostic imaging , Pneumonia, Viral/immunology , Retrospective Studies , Risk Factors , SARS-CoV-2 , Severity of Illness Index , Tomography, X-Ray Computed , Turkey
8.
Minerva Pediatr ; 68(6): 427-434, 2016 Dec.
Article in English | MEDLINE | ID: mdl-26583452

ABSTRACT

BACKGROUND: The aim of this study was to investigate the experiences of Turkish mothers in teething period and the factors affecting teething. METHODS: This study was performed by filling in questionnaire forms with a face-to-face interview technique with the mothers of 792 patients presenting to the outpatient clinics of pediatrics of Fatih (Turgut Ozal) University Faculty of Medicine between 1 April and 31 July 2012. RESULTS: This study was conducted in a total of 792 children (mean age: 24.2±7.9, range 12-42 months; 430 males). Of the study population, 6.1% had a family history of premature teething, 9.7% had a family history of delayed teething, 98% had been breastfed, 91.9% had used vitamin D, 67.6% had used iron supplements, and 3.9% had fluorine use. The first teething was at 7.8±2.5 months and the first teeth to appear was the anterior lower incisor (58.7%). The symptoms the patients had during teething were irritability (64.9%), fever (64.1%), increased mastication (61.6%), increased salivation (58.2%), and diarrhea (45.6%). The rate of admission to a physician with these complaints was 19.6%. The factors affecting the teething time were a family history of premature or delayed teething and birth with natal tooth, and male gender. CONCLUSIONS: In this study we found that nutritional or local factors were not effective on teething time. Teething period was characterized by nonspecific symptoms including irritability, subfebrile fever, increased mastication and salivation, and diarrhea. Linear regression analysis revealed that male gender and a family history of premature teething were the factors responsible from a shortening in teething time.


Subject(s)
Diarrhea/epidemiology , Fever/epidemiology , Sialorrhea/epidemiology , Tooth Eruption , Child, Preschool , Female , Fluorine/administration & dosage , Humans , Infant , Interviews as Topic , Iron Compounds/administration & dosage , Linear Models , Male , Mastication/physiology , Mothers , Sex Factors , Surveys and Questionnaires , Time Factors , Turkey , Vitamin D/administration & dosage
9.
Med Sci Monit ; 21: 1376-80, 2015 May 13.
Article in English | MEDLINE | ID: mdl-25968249

ABSTRACT

BACKGROUND: Chronic hepatitis B virus (HBV) infection is common worldwide. Follow-up of patients by the use of non-invasive techniques may be valuable in clinical practice. The aim of this study was to investigate serum galectin-3 (GAL-3) levels for monitoring disease status in children with chronic HBV infection. MATERIAL/METHODS: Thirty-two patients with chronic hepatitis B (CHB), 30 inactive HBV carrier patients, and 30 matched healthy controls were enrolled in the study. We performed basic laboratory tests: serum glucose, albumin, alanine aminotransferase (ALT), aspartate aminotransferase, gamma-glutamyl transferase (GGT), total bilirubin, prothrombin time, and activated partial thromboplastin time. In addition, serum GAL-3 levels were measured by ELISA technique. RESULTS: Significantly higher serum GAL-3 levels (16.5±3.6, 1.1±0.3, 0.7±0.5 ng/ml, respectively, p<0.001) and ALT levels (80.2±30.6, 26.8±12.6, 28.1±4.4 IU/L, respectively, p<0.001) were found in the CHB group compared with the inactive carriers and the control groups. There were no significant differences in ALT levels and GAL-3 levels or between inactive HBV carriers and the control groups (p>0.05, for each). Significantly higher GGT levels were found in the CHB group (51.3±27.5 IU/L) compared with the inactive HBV carriers (35.7±10.1 IU/L) and the control group (31.3±9.5 IU/L) (p<0.001, and p=0.004, respectively). A significant correlation was found between GAL-3 and ALT levels in the CHB group (r=0.82, p<0.001). CONCLUSIONS: Our results suggest that serum GAL-3 level may be a beneficial indicator of chronicity in hepatitis B infection in children.


Subject(s)
Carrier State/blood , Galectin 3/blood , Hepatitis B, Chronic/blood , Adolescent , Alanine Transaminase/blood , Aspartate Aminotransferases/blood , Biomarkers/blood , Blood Glucose/analysis , Blood Proteins , Carrier State/diagnosis , Child , Diagnosis, Differential , Enzyme-Linked Immunosorbent Assay , Female , Galectins , Hepatitis B, Chronic/diagnosis , Humans , Hyperbilirubinemia/blood , Male , Partial Thromboplastin Time , Prothrombin Time , Serum Albumin/analysis , gamma-Glutamyltransferase/blood
10.
Arch. argent. pediatr ; 113(2): e101-e105, abr. 2015. ilus, tab
Article in English, Spanish | LILACS, BINACIS | ID: lil-750454

ABSTRACT

La tuberculosis congènita es una enfermedad rara, con alta tasa de mortalidad. Es considerada el resultado de la transmisión vertical de la infección desde la placenta al feto, a través de la aspiración de líquido amniótico o por vía transplacentaria a través de las venas umbilicales. El diagnóstico de la enfermedad suele ser difícil porque los signos clínicos son inespecíficos. Se presenta el caso de un lactante varón de 48 días de vida, que fue internado por pérdida de peso, fiebre, tos, hemoptisis y dificultad respiratoria durante los últimos 20 días. Había recibido antibióticos de amplio espectro durante ese lapso, sin presentar mejoría. La radiografía de tórax mostró una consolidación con una lesión cavitaria en los campos medio y superior izquierdo. Se detectó Mycobacterium tuberculosis por reacción en cadena de la polimerasa en una muestra tomada por lavado broncoalveolar y, con ese hallazgo, se diagnosticó tuberculosis congènita. Se comenzó, entonces, el tratamiento con tuberculostáticos. El paciente falleció al 13er día de tratamiento. En lactantes con pérdida de peso, fiebre, tos, hemoptisis y dificultad respiratoria, debiera considerarse la posibilidad de tuberculosis congénita.


Congenital tuberculosis is a rare disease with a high mortality rate. Congenital tuberculosis is considered the result of mother-to-child transmission from the placenta to the fetus, through the ingestion of the amniotic fluid, or via transplacental transmission through the umbilical vein. Given the non-specific clinical signs of tuberculosis, it is usually difficult to diagnose it. The case of a 48-day-old male infant hospitalized due to weight loss, fever, cough, hemoptysis, and respiratory distress for the past 20 days, is presented. In this period, he had received broad spectrum antibiotics but with no improvement. A chest x-ray showed the presence of consolidation and a cavitary lesion in the upper and middle left lung fields. Mycobacterium tuberculosis was detected by polymerase chain reaction in a bronchoalveolar lavage specimen. Congenital tuberculosis was diagnosed based on this finding; hence, a tuberculostatic regimen was started accordingly. The patient died 13 days after treatment initiation. Congenital tuberculosis should be considered in infants with weight loss, fever, cough, hemoptysis and respiratory distress.


Subject(s)
Humans , Male , Infant, Newborn , Tuberculosis/congenital , Infant, Newborn , Mortality
11.
Arch. argent. pediatr ; 113(2): 133-140, abr. 2015. tab
Article in English, Spanish | LILACS, BINACIS | ID: lil-750448

ABSTRACT

Objetivo: El objetivo de este estudio fue investigar el espectro de las mutaciones genéticas localizadas en el gen de la fiebre mediterránea (MEFV) y la correlación entre el genotipo y el fenotipo en niños con fiebre mediterránea familiar (FMF) en el sureste de Turquía. Métodos: En el estudio se incluyeron 507 niños (274 eran de sexo femenino) con FMF y mutaciones genéticas localizadas en el gen MEFV. Se realizó una evaluación retrospectiva de 15 años; y se analizaron los siguientes parámetros: edad, sexo, edad al inicio de los síntomas, edad al diagnóstico de la FMF, demora entre el inicio de los síntomas y el diagnóstico, síntomas de ataque de la FMF y respuesta a la colchicina. Se calcularon los índices de severidad de la enfermedad y se realizó el análisis de la mutación del genMEFV mediante PCR en tiempo real para las seis mutaciones más frecuentes. Con el fin de aportar homogeneidad, se excluyeron los niños con comorbilidades o con un resultado negativo en las pruebas de mutaciones del gen MEFV. Resultados: Se encontró que el 60,2% (n= 305) de los pacientes tenían antecedentes familiares. Los síntomas más frecuentes que manifestaron durante los ataques de FMF fueron dolor abdominal (98,0%), fiebre (93,9%) y artralgia (47,3%); el 75,0% de los pacientes (n= 380) eran heterocigotos; el 14,2% homocigotos (n= 72) y el 10,8% heterocigotos compuestos (n= 55). Se identificaron las siguientes mutaciones en los alelos del gen MEFV: E148Q (40,1%), M694V (25,9%), V726A (15,8%), R761H (7,4%), M680I (6,8%), y P369S (4,1%). En el subgrupo M694V se observó una edad media más joven de inicio de la enfermedad y un puntaje medio más alto de gravedad de la enfermedad, mientras que el grupo E148Q tuvo un inicio medio de enfermedad más tardío y un puntaje medio más bajo de severidad de la enfermedad (p <0,05). Conclusión: La frecuencia más alta de la mutación E148Q y la enfermedad más leve en la evolución de la FMF en la población de nuestro estudio quizás se deba a las diferencias étnicas del sureste de Turquía.


Objective: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. Results: A family history of FMF was found in 60.2% (n= 305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.


Subject(s)
Humans , Child , Familial Mediterranean Fever , Phenotype , Turkey , Genotype , Mutation
12.
Arch Argent Pediatr ; 113(2): 133-9, 2015 04.
Article in English, Spanish | MEDLINE | ID: mdl-25727825

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. RESULTS: A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n=380) were heterozygous, 14.2% were homozygous (n=72) and 10.8% were compound heterozygous (n=55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). CONCLUSION: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.


Subject(s)
Familial Mediterranean Fever/genetics , Mutation , Adolescent , Child , Child, Preschool , Female , Genetic Variation , Genotype , Humans , Infant , Male , Phenotype , Retrospective Studies , Turkey
13.
Arch Argent Pediatr ; 113(2): e101-5, 2015 04.
Article in English, Spanish | MEDLINE | ID: mdl-25727833

ABSTRACT

Congenital tuberculosis is a rare disease with a high mortality rate. Congenital tuberculosis is considered the result of mother-to-child transmission from the placenta to the fetus, through the ingestion of the amniotic fluid, or via transplacental transmission through the umbilical vein. Given the non-specific clinical signs of tuberculosis, it is usually difficult to diagnose it. The case of a 48-day-old male infant hospitalized due to weight loss, fever, cough, hemoptysis, and respiratory distress for the past 20 days, is presented. In this period, he had received broad spectrum antibiotics but with no improvement. A chest x-ray showed the presence of consolidation and a cavitary lesion in the upper and middle left lung fields. Mycobacterium tuberculosis was detected by polymerase chain reaction in a bronchoalveolar lavage specimen. Congenital tuberculosis was diagnosed based on this finding; hence, a tuberculostatic regimen was started accordingly. The patient died 13 days after treatment initiation. Congenital tuberculosis should be considered in infants with weight loss, fever, cough, hemoptysis and respiratory distress.


Subject(s)
Tuberculosis, Pulmonary/congenital , Humans , Infant , Male , Tuberculosis, Pulmonary/diagnosis
16.
Int J Infect Dis ; 21: 1-4, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24231588

ABSTRACT

OBJECTIVES: Studies have been done that have focused on the efficacy of bacillus Calmette-Guérin (BCG) vaccination in the prevention of cases of childhood tuberculous meningitis (TBM). However the efficacy of the vaccination in the prevention of mortality has not been sufficiently evaluated. This study aimed to determine the main features of TBM cases in childhood and to evaluate the factors related to mortality, proving the protective effect of BCG vaccination in childhood TBM. METHODS: In a retrospective approach, all consecutive cases of TBM in children that occurred between 1997 and 2005, at Dicle University Hospital, were studied. The following data were evaluated: demographic aspects, admission symptoms, radiology and laboratory findings, BCG vaccination status, tuberculin skin test (TST) positivity, and mortality rates. RESULTS: In total, 172 cases of childhood TBM were evaluated (mean age 53.3±55.7 months; 109 boys (63.4%)). The majority of these cases (70.4%) had typical TBM symptoms on admission. BCG vaccination data were available for 152 (88.4%) cases and 29 of them (19.1%) were positive. The TST was performed for 143 patients (83.1%) and 28 (19.6%) were found positive. Hydrocephalus was identified in 118 patients (68.6%) on computed tomography examination. A shunt was placed in 79 cases (45.9%). In total, 24 patients (14.0%) died in the hospital. TST negativity was a significant factor for mortality (p=0.012). BCG positivity was found to be a preventive factor from mortality (p=0.05). CONCLUSIONS: BCG vaccination is effective in the prevention of TBM-associated mortality in childhood. TST negativity may be a sign of a poor prognosis in TBM cases.


Subject(s)
BCG Vaccine/immunology , Hydrocephalus/prevention & control , Tuberculosis, Meningeal/prevention & control , Vaccination , BCG Vaccine/administration & dosage , Child , Child, Preschool , Female , Hospitals, University , Humans , Hydrocephalus/complications , Hydrocephalus/immunology , Hydrocephalus/mortality , Infant , Male , Predictive Value of Tests , Retrospective Studies , Survival Analysis , Tuberculin Test , Tuberculosis, Meningeal/complications , Tuberculosis, Meningeal/immunology , Tuberculosis, Meningeal/mortality , Turkey/epidemiology
17.
Clin Respir J ; 8(2): 152-9, 2014 Apr.
Article in English | MEDLINE | ID: mdl-23981451

ABSTRACT

INTRODUCTION: In children, coughs lasting longer than 4 weeks are considered to be chronic, with etiological factors varying widely. OBJECTIVE: This study included children with chronic cough who were followed for 1 year. All cases were evaluated with the guidance of the American College of Chest Physicians (ACCP), and etiological factors were analyzed. METHODS: The study included 270 children between the ages of 2 months and 14 years. Their presenting symptoms, physical examination findings and laboratory data were recorded. All patients underwent laboratory tests including direct chest X-ray and spirometric measurements. Several patients required additional advanced examinations such as a sweat test, determination of immunoglobulin levels and bronchoscopy. Patients were reevaluated according to ACCP recommendations, and etiological factors were investigated. RESULTS: The total of 270 patients were included in the study included 43.3% (n=153) females with a mean age of 6.5 ± 2.3 years (7 months to 17 years). After a 1-year follow-up of patients, we determined that the most common etiologic factors were asthma (27%), asthma-like syndrome (15.5%) and gastroesophageal reflux (10%). Other etiological factors included upper airway cough syndrome and protracted bronchitis, respectively. CONCLUSION: The use of a standardized clinical approach such as the ACCP increases the possibility for fast and accurate diagnosis during the treatment of children with chronic cough, and the use of these guidelines should be required.


Subject(s)
Cough/diagnosis , Cough/etiology , Practice Guidelines as Topic , Bronchial Diseases/complications , Bronchial Diseases/diagnosis , Bronchial Diseases/therapy , Child , Child, Preschool , Chronic Disease , Cough/therapy , Female , Gastroesophageal Reflux/complications , Gastroesophageal Reflux/diagnosis , Gastroesophageal Reflux/therapy , Humans , Infant , Lung Diseases/complications , Lung Diseases/diagnosis , Lung Diseases/therapy , Male , United States
18.
Turk Pediatri Ars ; 49(2): 148-53, 2014 Jun.
Article in English | MEDLINE | ID: mdl-26078651

ABSTRACT

AIM: In this study, we aimed to evaluate complementary and alternative methods of medicine, determine the frequencies of usage of these methods and investigate the factors which have an impact on their usage. MATERIAL AND METHODS: The study was conducted between October, the 15(th) and November, the 15(th) 2012. Approval was obtained from the local ethics committee (08.10.2012/732). The study form prepared was applied to the mothers of the children who presented to our general outpatient clinic and had no chronic disease. The data were recorded in SPSS for Windows v.16 program. Descriptive statistics, chi-square, Mann-Whitney U and logistic regression analyses were applied. A p value of <0.05 was considered significant. RESULTS: Two hundred and six children were included in the study. Complementary and alternative medicine was used in 83% of the patients. Wearing an evil eye (45%) bead and prayer (35%) to protect from the evil eye were the most commonly used methods. The most common medical conditions which caused to use of complementary and alternative medicine included anemia, diarrhea, constipation and cough. Belief-based application were being used in 73% of the patients and herbal methods were being used in 57%. In 18% of the patients, interventional methods including cutting had been performed. No difference was found between the patients in whom these methods were used and not used in terms of familial income, education levels of the parents, family type and residence (p>0.05). CONCLUSIONS: Complementary and alternative methods of medicine are applied substantially frequently in children. Physicians should have information about these methods in terms of their effects and side effects and warn families and especially mothers about potential risks.

19.
Korean J Pediatr ; 56(10): 456-8, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24244215

ABSTRACT

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.

20.
Pediatr Hematol Oncol ; 30(8): 717-22, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23560890

ABSTRACT

Factor X (FX) is the component of both extrinsic and intrinsic coagulation cascade and is the first enzyme of the common pathway which results in thrombus. Congenital FX deficiency (FXD) is an extremely rare coagulation defect. In this study, we aimed to investigate the clinical and laboratory data of the patients diagnosed with FXD. The files of the 15 patients (7 female, 8 male) diagnosed and followed up for FXD within the last 4 years were evaluated retrospectively. The mean age of the patients was 29 months (min-max:1-144 months). The most presenting complaints were easy bruisability (n = 8; 53%) and epistaxis (n = 8; 53%). FX levels were <1% in six patients, 1-5% in four patients, and >5% in five patients. Heparin added-Protrombin Complex was used for prophlaxy (n = 11; 73%). Any treatment-related complication was not observed. Heparin-added PCC can be used safely for effective prophlaxy. We suggest that family history is important when considering prophlaxy and in patients with life-threatening bleeding or with FXD sibling the prophlaxy should be introduced in the early course.


Subject(s)
Anticoagulants/administration & dosage , Blood Coagulation Factors/administration & dosage , Factor X Deficiency/prevention & control , Heparin/administration & dosage , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Male , Medical Records , Retrospective Studies
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