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1.
Mol Syndromol ; 15(3): 251-256, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38841330

ABSTRACT

Introduction: The Witteveen-Kolk syndrome (WITKOS) (OMIM: 613406) is a heterogeneous emerging disorder caused by pathogenic variants or microdeletions encompassing the SIN3A gene (SIN3 Transcription Regulator Family Member A). It is characterized by distinctive facial features, developmental delay, intellectual disability, microcephaly, short stature, and subtle anomalies on brain magnetic resonance imaging (MRI). To date, about 50 patients have been reported in the medical literature. Patient Presentation: In this article, we reported a patient with classic findings of WITKOS including global developmental delay, microcephaly, hypotonia, vomiting, malnutrition, autistic and dysmorphic facial features, and cardiac abnormalities. Also, a barium esophagogram suggested severe motility disorder and gastroesophageal reflux disease. Affymetrix CytoScan 750K microarray showed a de novo 1.6-Mb deletion at 15q24.1q24.2, including the whole SIN3A gene. We have also summarized the clinical features of WITKOS patients in the medical literature and cardiac abnormalities detected in 4 out of 10 patients in studies that clearly state that cardiac examination was performed in the patients. Conclusion: Our findings showed that cardiac defects are not uncommon findings in WITKOS. Physicians should also be aware of reflux disease and motility disorder in patients with feeding difficulty together with early cardiac examination in terms of an improved quality of life in WITKOS patients.

2.
Diabetes Obes Metab ; 25(7): 1950-1963, 2023 07.
Article in English | MEDLINE | ID: mdl-36946378

ABSTRACT

AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.


Subject(s)
Diabetes Mellitus , Hypertriglyceridemia , Lipodystrophy, Congenital Generalized , Lipodystrophy , Myocardial Infarction , Renal Insufficiency, Chronic , Female , Humans , Turkey/epidemiology , Cohort Studies , Myocardial Infarction/complications , Renal Insufficiency, Chronic/complications , Kaplan-Meier Estimate , Hypertriglyceridemia/complications
3.
Ir J Med Sci ; 192(6): 2735-2739, 2023 Dec.
Article in English | MEDLINE | ID: mdl-36849650

ABSTRACT

BACKGROUND: Parenteral nutrition may lead to inevitable complications. AIMS: To determine the indications, metabolic and mechanical complications of parenteral nutrition in children. METHODS: One hundred fifty-eight children (91 males; 57.8%) who received 179 episodes of individualized parenteral nutrition for ≥ 5 days within 2 years were analyzed. Indications and duration of parenteral nutrition, effect on growth, and metabolic and central venous catheter-related non-infectious complications were evaluated. RESULTS: Parenteral nutrition was administered in 179 different episodes (109 males; 60.9%), and the median age during these episodes was 64.0 (14.0-129.0) months. The most common indications were hematological malignancies, gastrointestinal surgery, and hematopoietic stem cell transplantation. Most of the electrolyte imbalances occurred in the first 3 days. Hypophosphatemia (44.7%), hypomagnesemia (43.0%), hypokalemia (43.0%), hyponatremia (40.8%), and hypertriglyceridemia (38.2%) were the most common metabolic complications. Liver transaminases elevated in 32/145 (22.1%) episodes and bilirubin in 30/149 (21.0%). Ursodeoxycholic acid treatment was added to 25 patients with hypertransaminasemia and/or hyperbilirubinemia. Transaminase levels improved in 16 (64%) and bilirubin levels in 15 (60%) patients receiving ursodeoxycholic acid. Catheter thrombosis was seen in 4.5% of the episodes. The targeted energy could be given more efficiently via central catheters rather than peripheral venous accesses. Patients' bodyweights increased in 39.1% of the episodes. CONCLUSIONS: Close monitoring of electrolyte levels, especially in the first 3 days, is crucial to prevent complications of parenteral nutrition. When individualized PN preparations are used for metabolically unstable patients, it can be easier to maintain the blood glucose, lipids, and electrolyte levels within the normal range.


Subject(s)
Parenteral Nutrition , Ursodeoxycholic Acid , Male , Humans , Child , Child, Preschool , Parenteral Nutrition/adverse effects , Liver , Bilirubin , Electrolytes
4.
J Pediatr Hematol Oncol ; 44(2): e503-e506, 2022 Mar 01.
Article in English | MEDLINE | ID: mdl-34224521

ABSTRACT

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.


Subject(s)
Epstein-Barr Virus Infections , Lymphoproliferative Disorders , Skin Diseases , Child , Epstein-Barr Virus Infections/complications , Epstein-Barr Virus Infections/diagnosis , Epstein-Barr Virus Infections/drug therapy , Herpesvirus 4, Human , Humans , Lymphoproliferative Disorders/diagnosis , Skin Diseases/complications , Stomach , Ulcer/etiology
5.
Minerva Pediatr (Torino) ; 74(4): 468-476, 2022 08.
Article in English | MEDLINE | ID: mdl-32960005

ABSTRACT

BACKGROUND: Dietary modifications may have role in prevention and treatment of functional constipation. Macronutrient, extrafluid, and fiber intake have been evaluated and the results are conflicting. The aim of our study was to define the nutritional features associated with functional constipation aged 4 years and older. METHODS: This is a cross-sectional descriptive study. Forty-one patients with functional constipation and 55 age-gender matched controls between 4-18 years old were enrolled. Demographic data, duration of breast-feeding, defecation pattern in the first year of life, physical activity, socioeconomic parameters, and anthropometric measurements were noted. Mean daily macronutrient and micronutrient consumption from the 5-day dietary records were calculated by Nutrition Information System - BEBIS 7.2 version. RESULTS: There were no differences between two groups in energy, water, protein, and fiber consumption. However, in 4-7 years old constipated female and male group, the percentage of carbohydrate was higher (P=0.010, P=0.049, respectively) but fat was lower (P=0.011, P=0.032, respectively). All patients except 4-7 years old boys of both groups got less energy than the reference values. The mean daily protein intake was higher than required in the 4-7 years old constipated and control groups. There was no significant difference in fiber consumption between 2 groups. Breastfeeding >18 months was more common in controls (P=0.039). The constipated group used the squatting toilet more frequently (P=0.002). Lower family income (P<0.001) and parental education levels (P<0.001) were associated with FC. CONCLUSIONS: Dietary habits may be a risk factor for functional constipation, especially, in rapid growth period.


Subject(s)
Constipation , Dietary Fiber , Adolescent , Child , Child, Preschool , Constipation/etiology , Cross-Sectional Studies , Feeding Behavior , Female , Humans , Male , Nutritional Status
6.
Pediatr Int ; 64(1): e14996, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34533857

ABSTRACT

BACKGROUND: Nutritional status in primary immunodeficiencies (PID) is a major factor influencing immune defense. We aimed to evaluate the nutritional status of patients with PID. METHODS: Demographic findings and anthropometric measurements of 104 patients were recorded for this cross-sectional study. RESULTS: Combined immunodeficiencies (n = 49), predominantly antibody deficiencies (n = 28) and phagocytic system disorders (n = 17), were the major disease groups. In total, 44 (42.3%) patients had at least one anthropometric measurement below -2 standard deviations. Chronic, acute, and mixed-type malnutrition were detected in 18.3%, 16.3%, and 7.7% of the patients, respectively. No significant difference was detected among groups regarding anthropometric measurements however higher malnutrition rates were observed in 'combined immune deficiency less profound than severe combined immuno deficiency' (52%), chronic granulomatous disease (66.6%), and X-linked agammaglobulinemia (50%) patients. Severe malnutrition was present in 22 (21.2%) of the patients, although it was not significant. It was more common in the phagocytic system disorder group. All patients in the severe combined immunodeficiency group had undergone hematopoietic stem cell transplantation and 50% of them had malnutrition. There was also no significant difference regarding age, sex, anthropometric indexes (Weight for age, lenght/height for age body mass index Z-scores), malnutrition types, and prevalence of malnutrition among three major disease groups. Only the hospitalization history inversely related to body mass index and weight for age Z-scores (P < 0.0001). In patients with malnutrition, daily caloric intake was at least 20% or more below the requirement. CONCLUSIONS: Regardless of the type of immunodeficiency, nutritional status was poor in PID and hospitalization is the most important determinant of nutritional status. Even after hematopoietic stem cell transplantation, nutritional support should be continued.


Subject(s)
Malnutrition , Nutritional Status , Anthropometry , Body Height , Cross-Sectional Studies , Humans
7.
Pediatr Gastroenterol Hepatol Nutr ; 24(6): 518-527, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34796096

ABSTRACT

PURPOSE: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. METHODS: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. RESULTS: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. CONCLUSION: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

8.
Eur J Endocrinol ; 185(6): 841-854, 2021 Nov 10.
Article in English | MEDLINE | ID: mdl-34643546

ABSTRACT

OBJECTIVE: CAV1 encodes caveolin-1, a major protein of plasma membrane microdomains called caveolae, involved in several signaling pathways. Caveolin-1 is also located at the adipocyte lipid droplet. Heterozygous pathogenic variants of CAV1 induce rare heterogeneous disorders including pulmonary arterial hypertension and neonatal progeroid syndrome. Only one patient was previously reported with a CAV1 homozygous pathogenic variant, associated with congenital generalized lipodystrophy (CGL3). We aimed to further delineate genetic transmission, clinical, metabolic, and cellular characteristics of CGL3. DESIGN/METHODS: In a large consanguineous kindred referred for CGL, we performed next-generation sequencing, as well as clinical, imagery, and metabolic investigations. We studied skin fibroblasts from the index case and the previously reported patient with CGL3. RESULTS: Four patients, aged 8 months to 18 years, carried a new homozygous p.(His79Glnfs*3) CAV1 variant. They all displayed generalized lipodystrophy since infancy, insulin resistance, low HDL-cholesterol, and/or high triglycerides, but no pulmonary hypertension. Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa. Heterozygous parents and relatives (n = 9) were asymptomatic, without any metabolic abnormality. Patients' fibroblasts showed a complete loss of caveolae and no protein expression of caveolin-1 and its caveolin-2 and cavin-1 partners. Patients' fibroblasts also displayed insulin resistance, increased oxidative stress, and premature senescence. CONCLUSIONS: The CAV1 null variant investigated herein leads to an autosomal recessive congenital lipodystrophy syndrome. Loss of caveolin-1 and/or caveolae induces specific manifestations including achalasia which requires specific management. Overlapping phenotypic traits between the different CAV1-related diseases require further studies.


Subject(s)
Caveolin 1/genetics , Esophageal Achalasia/genetics , Lipodystrophy, Congenital Generalized/genetics , Adolescent , Caveolae/pathology , Caveolae/ultrastructure , Caveolin 1/metabolism , Caveolin 2/metabolism , Cellular Senescence , Child , Child, Preschool , Consanguinity , Dyslipidemias/metabolism , Esophageal Achalasia/pathology , Female , Fibroblasts/pathology , Fibroblasts/ultrastructure , Homozygote , Humans , Infant , Lipodystrophy, Congenital Generalized/metabolism , Lipodystrophy, Congenital Generalized/pathology , Male , Microscopy, Electron, Transmission , Oxidative Stress , Pedigree , RNA-Binding Proteins/metabolism
9.
Arab J Gastroenterol ; 22(3): 215-219, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34538586

ABSTRACT

BACKGROUND AND STUDY AIMS: Wilson's disease (WD) is a complex disorder related to copper metabolism and neurological involvement may lead to swallowing disorders. The purpose of this study was to evaluate swallowing function in pediatric patients with WD by using videofluoroscopic swallowing study (VFSS). PATIENTS AND METHODS: A total of 21 patients were included in the study, prospectively. The VFSS was conducted to evaluate swallowing function of the patients. The penetration-aspiration scale (PAS) was used to assess penetration-aspiration severity. RESULTS: According to the VFSS, abnormal results were detected in nine patients (42.9%) with WD. Of these nine patients, oral phase dysfunction was present in one patient, laryngeal penetration was present in one patient and moreover, abnormal esophageal body function was detected in all nine patients. Of these nine patients, five had neurological presentation at the time of diagnosis, and remaining four patients had hepatic presentation. Mean PAS score of the patients was 1. CONCLUSION: The current study results suggest that subclinical swallowing dysfunction may be observed in patients with either neurological or hepatic WD. Further studies are necessary to reveal the real incidence of esophageal phase problems of swallowing function in pediatric patients with WD.


Subject(s)
Deglutition Disorders , Hepatolenticular Degeneration , Child , Copper , Deglutition , Deglutition Disorders/diagnostic imaging , Deglutition Disorders/etiology , Hepatolenticular Degeneration/complications , Hepatolenticular Degeneration/diagnostic imaging , Humans
10.
Eur J Med Genet ; 64(11): 104339, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34500086

ABSTRACT

Data from 38 children were retrospectively analyzed to determine the patient characteristics of Turkish children with Gaucher disease (GD) and evaluate the impact of enzyme replacement therapy (ERT) in a pediatric cohort consisting of two different sub-types of the disease, Gaucher disease type 1 (GD1) and type 3 (GD3). Both types were represented equally (GD1/GD3 = 20/18). L444P (35.5%) was the most common mutant allele while L444P/L444P (34.2%) was the most common genotype overall. Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None of the patients had moderate to severe thrombocytopenia at last follow-up while the percent of patients with anemia decreased from 60% to 5.7% (p < 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p < 0.001) and spleen (from 15.5 to 7.6 MN, p < 0.001) volumes were observed in the first year of ERT. Linear growth was ameliorated as shown by the decrease in the percent of patients having short stature from 34.3% to 13.3% (p < 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. Although none of the patients had lung disease at diagnosis, 20% developed radiological findings suggestive of pulmonary involvement. This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of GD patients but also providing information on the outcomes of ERT in two different sub-types of GD. Genotypic background of Turkish children with GD is similar to western populations. Although visceral and hematological therapeutic goals are reached as early as one year of ERT in both sub-types, achieving normal growth takes several more years than suggested in significant number of children with GD.


Subject(s)
Enzyme Replacement Therapy , Gaucher Disease/pathology , Glucosylceramidase/genetics , Phenotype , Adolescent , Child , Child, Preschool , Female , Gaucher Disease/drug therapy , Gaucher Disease/epidemiology , Gaucher Disease/genetics , Glucosylceramidase/therapeutic use , Humans , Infant , Male , Treatment Outcome , Turkey
11.
Arch. argent. pediatr ; 117(5): 459-465, oct. 2019. ilus, graf, tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1054961

ABSTRACT

Antecedentes. El linfoma de Hodgkin (LH) es uno de los tipos de cáncer pediátrico con más posibilidades de curación. Sin embargo, es raro entre los niños menores de 5 años, y aún se desconocen los factores pronósticos de la supervivencia debido a su baja frecuencia en este grupo etario. Objetivos. El objetivo de este estudio fue evaluar las características clínicas, los esquemas de tratamiento y el desenlace de los pacientes con LH menores de 5 años. Métodos: se realizó una evaluación retrospectiva de los pacientes con diagnóstico de LH entre 1972 y 2013. Todos los pacientes recibieron quimioterapia, con o sin radioterapia. Resultados. Participaron 102 pacientes; la mediana de edad fue de 4 años (intervalo: 2-4,9). La mediana de seguimiento fue de 13 años. Veintitrés pacientes tenían síntomas B, 15 pacientes tenían neoplasia maligna con gran masa tumoral, y los estadios I y II fueron los más frecuentes. Las tasas de supervivencia global (SG) fueron significativamente diferentes según el estadio del cáncer (p = 0,008). Si bien no se observaron diferencias estadísticamente significativas, la presencia de neoplasia maligna con gran masa tumoral y de síntomas B estuvo asociada con un mal pronóstico. Conclusión. En este estudio unicéntrico se incluyó la mayor cantidad de pacientes con LH menores de 5 años. El estadio fue el principal factor de predicción de SG; por otro lado, la presencia de síntomas B y neoplasia maligna con gran masa tumoral también afectó el pronóstico.


Background. Hodgkin's lymphoma (HL) is one of the most curable pediatric cancers, however it is rare among children under five years of age and prognostic factors for survival rate are still unknown due to low frequency in this age group. Objectives. The aim of this study was to evaluate clinical characteristics, treatment regimens, and outcome of patients under five years of age with HL. Methods. Patients diagnosed with HL between 1972 and 2013 were retrospectively evaluated. All patients were treated with chemotherapy with or without radiotherapy. Results. There were 102 patients with a median age of 4 years (range: 2 to 4.9). The median followup time was 13 years. Twenty-three patients had B symptoms, 15 patients had 'bulky disease' and the most common stages were stage I and II. Overall survival (OS) rates were significantly different according to the stage of the cancer (p = 0.008). Although there were no statistically significant differences; the positivity of 'bulky disease' and B symptoms were associated with poor prognosis. Conclusion. Our single-center study included the largest number of patients under five years of age with HL. The stage was the main predictor for OS; on the other hand, the presence of B symptoms and bulky disease has also affected the prognosis.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Hodgkin Disease , Child , Adolescent , Young Adult
12.
Arch Argent Pediatr ; 117(5): e459-e465, 2019 10 01.
Article in English, Spanish | MEDLINE | ID: mdl-31560490

ABSTRACT

BACKGROUND: Hodgkin's lymphoma (HL) is one of the most curable pediatric cancers, however it is rare among children under five years of age and prognostic factors for survival rate are still unknown due to low frequency in this age group. OBJECTIVES: The aim of this study was to evaluate clinical characteristics, treatment regimens, and outcome of patients under five years of age with HL. METHODS: Patients diagnosed with HL between 1972 and 2013 were retrospectively evaluated. All patients were treated with chemotherapy with or without radiotherapy. RESULTS: There were 102 patients with a median age of 4 years (range: 2 to 4.9). The median followup time was 13 years. Twenty-three patients had B symptoms, 15 patients had 'bulky disease' and the most common stages were stage I and II. Overall survival (OS) rates were significantly different according to the stage of the cancer (p = 0.008). Although there were no statistically significant differences; the positivity of 'bulky disease' and B symptoms were associated with poor prognosis. CONCLUSION: Our single-center study included the largest number of patients under five years of age with HL. The stage was the main predictor for OS; on the other hand, the presence of B symptoms and bulky disease has also affected the prognosis.


Antecedentes. El linfoma de Hodgkin (LH) es uno de los tipos de cáncer pediátrico con más posibilidades de curación. Sin embargo, es raro entre los niños menores de 5 años, y aún se desconocen los factores pronósticos de la supervivencia debido a su baja frecuencia en este grupo etario. Objetivos. El objetivo de este estudio fue evaluar las características clínicas, los esquemas de tratamiento y el desenlace de los pacientes con LH menores de 5 años. Métodos: se realizó una evaluación retrospectiva de los pacientes con diagnóstico de LH entre 1972 y 2013. Todos los pacientes recibieron quimioterapia, con o sin radioterapia. Resultados. Participaron 102 pacientes; la mediana de edad fue de 4 años (intervalo: 2-4,9). La mediana de seguimiento fue de 13 años. Veintitrés pacientes tenían síntomas B, 15 pacientes tenían neoplasia maligna con gran masa tumoral, y los estadios I y II fueron los más frecuentes. Las tasas de supervivencia global (SG) fueron significativamente diferentes según el estadio del cáncer (p = 0,008). Si bien no se observaron diferencias estadísticamente significativas, la presencia de neoplasia maligna con gran masa tumoral y de síntomas B estuvo asociada con un mal pronóstico. Conclusión. En este estudio unicéntrico se incluyó la mayor cantidad de pacientes con LH menores de 5 años. El estadio fue el principal factor de predicción de SG; por otro lado, la presencia de síntomas B y neoplasia maligna con gran masa tumoral también afectó el pronóstico.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Hodgkin Disease/therapy , Child, Preschool , Combined Modality Therapy , Female , Follow-Up Studies , Hodgkin Disease/pathology , Humans , Male , Neoplasm Staging , Prognosis , Retrospective Studies , Survival Rate , Treatment Outcome
13.
Cardiol Young ; 29(9): 1183-1188, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31460854

ABSTRACT

BACKGROUND: This study evaluated cardiac function using tissue Doppler echocardiography and assessed electrocardiographic findings in children diagnosed with Wilson's disease. METHOD: Asymptomatic patients with a diagnosis of Wilson's disease (n = 43) were compared to healthy controls (n = 37) that were age and gender matched. RESULTS: The standard electrocardiographic and conventional echocardiographic examinations were similar in both groups. The left ventricular ejection fraction, shortening fraction, and diastolic function were not significantly different between the two groups. The Tei index for mitral lateral, mitral septal, tricuspid lateral, tricuspid septal, and inter-ventricular septum on tissue Doppler echocardiography was higher in the patient group, yet it did not reach statistical significance. Mitral lateral and septal systolic annular velocity values were significantly lower in the patient group when compared to the control group (p = 0.02 and 0.04, respectively). Also, mitral lateral and septal isovolumetric contraction time values were higher in the patient group (p = 0.04). Although the left ventricular values were not significantly different, relative left ventricular wall thickness was higher in the patient group when compared to the control group, and concentric remodelling in the left ventricle was found in 7 (16%) of 42 patients. QT interval (p = 0.02) and P-wave dispersion values (p = 0.04) were significantly higher in the patient group compared to the control group, and these tend to predict arrhythmias. CONCLUSION: Our study based on the tissue Doppler echocardiography assessment indicated a subclinical systolic, rather than diastolic, dysfunction in the myocardium with increased QT interval and P-wave dispersion, despite the young age of the patients and short disease duration.


Subject(s)
Echocardiography, Doppler, Pulsed/methods , Electrocardiography/methods , Heart Ventricles/physiopathology , Hepatolenticular Degeneration/physiopathology , Myocardial Contraction/physiology , Stroke Volume/physiology , Ventricular Function, Left/physiology , Adolescent , Asymptomatic Diseases , Child , Child, Preschool , Diastole , Female , Follow-Up Studies , Heart Ventricles/diagnostic imaging , Hepatolenticular Degeneration/diagnosis , Humans , Infant , Male , Prospective Studies , Systole , Young Adult
14.
Turk J Gastroenterol ; 30(5): 467-474, 2019 May.
Article in English | MEDLINE | ID: mdl-31061002

ABSTRACT

BACKGROUND/AIMS: The present study aimed at investigating the long-term outcomes and prognostic factors of patients with biliary atresia (BA) diagnosed and followed at a single center. MATERIALS AND METHODS: Patients with BA treated during 1994-2014 at a large-volume pediatric tertiary referral center were reviewed retrospectively with regard to demographic, clinical, laboratory, and diagnostic characteristics for identifying the prognostic factors and long-term clinical outcomes. RESULTS: Overall, 81 patients (49 males, 32 females) were included. Mean age at diagnosis was 73.1±4.7 (median: 64) days. Of the patients included, 78 patients (96%) underwent a portoenterostomy procedure. Mean age at operation was 76.8±4.7 (median: 72) days. The surgical success rate was 64.8%. A younger age (either at diagnosis or surgery) was the only determinant of surgical success. The 2-, 5-, and 10-year overall survival (OS) rates, including all patients with or without liver transplantation, were 75%, 73%, and 71% respectively, whereas the 2-, 5-, and 10-year survival rates with native liver (SNL) were 69%, 61%, and 57%, respectively. Mean follow-up duration was 9.4±7.5 years. Successful surgery, presence of fibrosis and/or cirrhosis on the liver pathology, and prothrombin time [international normalized ratio (INR)] at presentation were independent prognostic factors for both OS and SNL. CONCLUSION: A younger age at diagnosis is strongly associated with surgical success in BA. Surgical success, the prothrombin time (INR) at presentation, and liver pathology are independent prognostic factors affecting the long-term outcomes in patients with BA. Therefore, timely diagnosis and early referral to experienced surgical centers are crucial for optimal management and favorable long-term results in BA.


Subject(s)
Biliary Atresia/mortality , Portoenterostomy, Hepatic/mortality , Biliary Atresia/surgery , Female , Humans , Infant , Liver Transplantation/mortality , Male , Portoenterostomy, Hepatic/methods , Prognosis , Retrospective Studies , Survival Rate , Treatment Outcome
15.
Paediatr Int Child Health ; 39(1): 73-75, 2019 02.
Article in English | MEDLINE | ID: mdl-29737935

ABSTRACT

Entamoeba histolytica is a protozoan parasite that affects a large proportion of the world's population and causes amoebic dysentery and extra-intestinal disease. Many individuals remain asymptomatic during colonisation; in 10% of individuals, the parasite breaks through the mucosal barrier and leads to invasive disease. An eight-month-old girl who was evaluated for hypo-albuminaemia and was diagnosed with amoebic colitis is reported. To the best of our knowledge, this is the first report of hypo-albuminaemia owing to amoebic colitis in any age group.


Subject(s)
Dysentery, Amebic/diagnosis , Dysentery, Amebic/pathology , Entamoeba histolytica/isolation & purification , Entamoebiasis/diagnosis , Entamoebiasis/pathology , Hypoalbuminemia/etiology , Hypoalbuminemia/pathology , Breast Feeding , Dysentery, Amebic/complications , Entamoebiasis/complications , Female , Humans , Infant
16.
Turk J Pediatr ; 59(1): 28-34, 2017.
Article in English | MEDLINE | ID: mdl-29168360

ABSTRACT

Soyer T, Yalçin S, Demir N, Karhan AN, Saltik-Temizel IN, Demir H, Tanyel FC. Does Nissen fundoplication improve deglutition in children? Turk J Pediatr 2017; 59: 28-34. A prospective study was performed to evaluate the effect of Nissen fundoplication (NF) on deglutition in children. Children who underwent NF between 2011-2015 were evaluated for demographic features, clinical findings, diagnostic methods for gastroesophageal reflux (GER) and indications for NF. Penetration aspiration scale (PAS), functional oral intake scale (FOIS) and esophageal functions were evaluated by videoflouroscopy (VFS). Preoperative and postoperative VFS findings were compared to evaluate the effect of NF on clinical findings and deglutition. Twenty-three children with a mean age of 5.08 ± 3.7 years were included. Female to male ratio was 15:8. Recurrent respiratory infections (RTI) (n: 14, 60.8%), swallowing dysfunction (n:13, 56.5%) and vomiting (n:10, 43.4%) were the most common symptoms. Preoperatively GER was diagnosed with barium swallowing study (BSS) contrast graphs (n:20, 87%) and with 24-hour esophageal pH monitorization (n:8, 34.8%). In 39.1% of patients, medical treatment for GER was used with a mean duration of 8 ± 5.8 months. Indications for NF were swallowing dysfunction (n: 18, 78%), GER complications (n:6, 26%), associated anatomical problems (n:4, 17.3%) and unresponsiveness to medical treatment (n: 3, 13%). Postoperative barium swallowing study and 24-hour esophageal pH monitorization showed no GER after NF in 95% of patients. Number of RTI were significantly decreased after NF (preoperative vs postoperative infection rate 4.21 vs 1.6 respectively, p < 0.05). VFS findings showed that PAS was significantly decreased after NF during both liquid and semi-liquid swallowing (p < 0.05). After NF, upper esophageal opening (UEO) was decreased when compared to preoperative VFS findings (p < 0.05 Esophageal cleaning, esophageal motility, esophageal backflow and lower esophageal sphincter narrowing did not alter after NF (p > 0.05). FOIS were significantly improved after NF (p < 0.05). VFS findings showed that penetration and aspiration were significantly decreased after NF and children had less RTI. Although, esophageal motility evaluated by VFS did not changed after NF, functional oral intake significantly improved in children.


Subject(s)
Deglutition Disorders/surgery , Fundoplication/methods , Gastroesophageal Reflux/surgery , Laparoscopy/methods , Child , Child, Preschool , Deglutition , Female , Gastroesophageal Reflux/diagnosis , Humans , Infant , Male , Postoperative Complications/etiology , Postoperative Period , Prospective Studies , Treatment Outcome
17.
Eur J Pediatr ; 176(12): 1669-1676, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28951965

ABSTRACT

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14.6 ± 13.3 days). Laboratory work-up included bone marrow aspiration (n = 8) and/or filipin staining (n = 4). Confirmation was done by molecular analysis, indicating NPC1 (n = 8) and NPC2 (n = 2) mutations. All patients had neonatal cholestasis and hepatosplenomegaly. Pulmonary involvement (n = 9) and fetal ascites (n = 2) were additional accompanying features. All but one died due to pulmonary complications (n = 6) and liver insufficiency (n = 3) between 1.5 and 36 months of age (mean 8.1 ± 10.8 months). Currently, one patient is alive at the age of 11 months without any neurological deficit. CONCLUSIONS: Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the newborn period and poor prognosis leading to premature death due to pulmonary complications and liver failure. What is known: • Neonatal presentation is a rare form of NPC with exclusively visceral involvement in the newborn period and poor prognosis leading to premature death. • Progressive liver disease is the most common cause of death among neonatal-onset NPC patients. What is new: • Natural course of neonatal-onset NPC may show variations. • Pulmonary involvement should be considered as an important cause of death in neonatal-onset cases, and appropriate precautions should be taken to prevent complications of respiratory insufficiency and airway infections.


Subject(s)
Niemann-Pick Disease, Type C/diagnosis , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Liver Failure/etiology , Liver Failure/mortality , Lung Diseases/etiology , Lung Diseases/mortality , Male , Niemann-Pick Disease, Type C/complications , Niemann-Pick Disease, Type C/mortality , Prognosis , Retrospective Studies
18.
Clin Rheumatol ; 36(7): 1521-1526, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28204893

ABSTRACT

Systemic lupus erythematosus (SLE) is an autoimmune disease which may involve gastrointestinal system (GIS). The aim of this study was to present GIS manifestations of pediatric SLE patients. The medical files of 69 children with SLE followed between January 2011 and January 2016 were reviewed. All fulfilled the Systemic Lupus International Collaborating Clinics criteria. All patients (≤18 years of age) with GIS manifestations were included. GIS manifestations were observed in 19 (27.5%) out of 69 SLE patients and present at the time of SLE diagnosis in 13 (68.4%). The GIS manifestations due to SLE were autoimmune hepatitis (AIH) (n = 8) and lupus enteritis (n = 1). Manifestations associated with SLE were hepatomegaly and hypertransaminasemia due to macrophage activation syndrome (MAS) (n = 3) and hepatic steatosis (n = 1). GIS manifestations as a result of the adverse events of drugs were as follows: toxic hepatitis (n = 3; associated with methotrexate and nonsteroidal anti-inflammatory drugs in one, methotrexate in another, and azathioprine in another patient), azathioprine-induced cholestatic hepatitis (n = 1), and gastritis associated with corticosteroid (n = 1). In one patient, acute appendicitis occurred as a coincidence. In this study, one of every five pediatric SLE patients had GIS-related manifestations. GIS involvement may occur as an initial manifestation of the disease.


Subject(s)
Enteritis/etiology , Fatty Liver/etiology , Hepatitis, Autoimmune/etiology , Hepatomegaly/etiology , Lupus Erythematosus, Systemic/complications , Adolescent , Antirheumatic Agents/adverse effects , Chemical and Drug Induced Liver Injury/etiology , Child , Child, Preschool , Enteritis/physiopathology , Fatty Liver/physiopathology , Female , Hepatitis, Autoimmune/physiopathology , Hepatomegaly/physiopathology , Humans , Immunosuppressive Agents/adverse effects , Lupus Erythematosus, Systemic/physiopathology , Male
19.
Iran J Radiol ; 13(3): e31943, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27853495

ABSTRACT

Omental and mesenteric cysts are both rare pathologies in children. Children who have omental cysts usually display symptoms of abdominal distension, with or without a palpable mass. The mass can simulate ascites on clinical observation, or tuberculosis on radiological images. The optimal treatment for this condition is complete resection. The presenting symptoms of abdominal distension and the simulation of septated ascites and abdominal tuberculosis are unusual. Reported cases in the literature usually display symptoms of abdominal distension, abdominal pain, painless mass or possible ascites. We describe the clinical presentation of a five-and-a-half-year-old boy who was treated for a diagnosis of abdominal tuberculosis and ascites at another hospital. After three years, he underwent abdominal surgery, and an omental cyst was found intraoperatively. The diagnosis was confirmed by pathological examination.

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