Sezai Arslan, Ümmü Alakuş Sarı, Banu Kadıoğlu Yılmaz, F. Kardaş, Füsun Ferda Erdoğan, M. Kendirci
Ammonia; It is a toxic molecule for the central nervous system resulting from the catabolism of proteins. Its excretion is provided with the urea cycle. Argininemia is a rare subtype of urea cycle disorders. Arginase enzyme catalyzes the last stage of the urea cycle, arginine; urea and ornithine are broken down. The decrease in arginase 1 (ARG1) enzyme activity is responsible for argininemia. The most common presenting symptoms of patients diagnosed with argininemia are progressive spastic diplegia, regression in developmental stages, choreoathetosis, hepatomegaly and seizures. The diagnosis of the disease can be made by detecting the elevation of arginine in body fluids together with the increase in serum ammonia. Neurological findings of these patients can be confused with cerebral palsy. In this case report, we wanted to present a patient with argininemia who was followed up with a diagnosis of cerebral palsy for a long time. Early diagnosis, restricted protein and arginine diet are life-saving in this disease. Argininemia should be kept in mind in patients with unexplained neuromotor retardation.
{"title":"Late Diagnosed Argininemia","authors":"Sezai Arslan, Ümmü Alakuş Sarı, Banu Kadıoğlu Yılmaz, F. Kardaş, Füsun Ferda Erdoğan, M. Kendirci","doi":"10.51271/jpea-2021-0104","DOIUrl":"https://doi.org/10.51271/jpea-2021-0104","url":null,"abstract":"Ammonia; It is a toxic molecule for the central nervous system resulting from the catabolism of proteins. Its excretion is provided with the urea cycle. Argininemia is a rare subtype of urea cycle disorders. Arginase enzyme catalyzes the last stage of the urea cycle, arginine; urea and ornithine are broken down. The decrease in arginase 1 (ARG1) enzyme activity is responsible for argininemia. The most common presenting symptoms of patients diagnosed with argininemia are progressive spastic diplegia, regression in developmental stages, choreoathetosis, hepatomegaly and seizures. The diagnosis of the disease can be made by detecting the elevation of arginine in body fluids together with the increase in serum ammonia. Neurological findings of these patients can be confused with cerebral palsy. In this case report, we wanted to present a patient with argininemia who was followed up with a diagnosis of cerebral palsy for a long time. Early diagnosis, restricted protein and arginine diet are life-saving in this disease. Argininemia should be kept in mind in patients with unexplained neuromotor retardation.","PeriodicalId":118905,"journal":{"name":"The Journal of Pediatric Academy","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117150383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-12-27DOI: 10.38092/JPA-2020-909489
Buket Kara, H. Akbaş, Mürsel Düzova, H. Karabağlı, Y. Köksal
Background: Medulloblastoma is the most common central nervous system tumor in childhood. This study aims to evaluate the clinical features, treatments, and outcomes of pediatric patients diagnosed with medulloblastoma Materials and Method:Between 2006 and 2019, the medical records of children with medulloblastoma were reviewed retrospectively. Patients who died after surgery, before chemotherapy or radiotherapy were not included in the survival analysis Results: During the study period, 38 children were diagnosed with medulloblastoma. Twenty-one of the patients were male (55.3%) and 17 were female (44.7%). The ages of the children ranged from 3 months to 17 years (median age 8 years). The ages of five patients were under 3 years (13.1%). The most common complaints were headache (n: 26, 68.4%), imbalance (n: 21, 55.3%), and vomiting (n: 20, 52.6%). The mass sizes ranged between 3 and 6 cm in 32 patients (84.2%). At the time of diagnosis, 5 patients had seeding metastasis (13.1%). The most commonlyused chemotherapy protocol included vincristine, cisplatin, etoposide (60.5%). Five patients died after surgery without any chemotherapy or radiotherapy. Of the 33 patients included in the life analysis, 12 died (36.4%). Follow-up times ranged from 2 months to 14 years (median, 44 months). The overall survival rate was 59.1%. Eight patients had relapsed (24.2%). Late relapse was detected in 3 of the relapsed patients (relapse times were the 91st, 69th, and 72nd months). Conclusions: It is possible to achieve satisfactory treatment results in children with medulloblastoma using international treatment guidelines and recommendations, with an experienced professional team dedicated to pediatric neurooncology.
{"title":"The Treatment Outcomes in Children with Medulloblastoma","authors":"Buket Kara, H. Akbaş, Mürsel Düzova, H. Karabağlı, Y. Köksal","doi":"10.38092/JPA-2020-909489","DOIUrl":"https://doi.org/10.38092/JPA-2020-909489","url":null,"abstract":"Background: Medulloblastoma is the most common central nervous system tumor in childhood. This study aims to evaluate the clinical features, treatments, and outcomes of pediatric patients diagnosed with medulloblastoma\u0000Materials and Method:Between 2006 and 2019, the medical records of children with medulloblastoma were reviewed retrospectively. Patients who died after surgery, before chemotherapy or radiotherapy were not included in the survival analysis\u0000Results: During the study period, 38 children were diagnosed with medulloblastoma. Twenty-one of the patients were male (55.3%) and 17 were female (44.7%). The ages of the children ranged from 3 months to 17 years (median age 8 years). The ages of five patients were under 3 years (13.1%). The most common complaints were headache (n: 26, 68.4%), imbalance (n: 21, 55.3%), and vomiting (n: 20, 52.6%). The mass sizes ranged between\u00003 and 6 cm in 32 patients (84.2%). At the time of diagnosis, 5 patients had seeding metastasis (13.1%). The most commonlyused chemotherapy protocol included vincristine, cisplatin, etoposide (60.5%). Five patients died after surgery without any chemotherapy or radiotherapy. Of the 33 patients included in the life analysis, 12 died (36.4%).\u0000Follow-up times ranged from 2 months to 14 years (median, 44 months). The overall survival rate was 59.1%. Eight patients had relapsed (24.2%). Late relapse was detected in 3 of the relapsed patients (relapse times were the 91st, 69th, and 72nd months). \u0000Conclusions: It is possible to achieve satisfactory treatment results in children with medulloblastoma using international treatment guidelines and recommendations, with an experienced professional team dedicated to pediatric neurooncology.","PeriodicalId":118905,"journal":{"name":"The Journal of Pediatric Academy","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125261193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-12-27DOI: 10.38092/jpa-2020-760856
Muhammed Mustafa Özdemir, A. Pınarbaşı, Neslihan Günay, Aynur Gencer-Balaban, Sibel Yel, M. Poyrazoğlu, I. Dursun
Objective: This study aimed to evaluate patients with renal transplantation in terms of clinical and laboratory. parameters. Material and Methods: This study was performed retrospectively with records of 48 patients who underwent renal transplantation before 18 years of age, between June 2008 and July 2019. Results: Congenital malformations of the urinary tract were the most common underlying causes of chronic kidney disease stage 5. Surgical complications occurred in 33.4% of the patients and BK viremia was the most common opportunistic viral infection during the follow-up. At the last clinic visit, 57.4% of our patients had CKD stage 1, hypertension and nephrotic range proteinuria were seen in eight and two patients, respectively. Conclusion: Although renal transplantation is the most ideal renal replacement therapy, patients may experience various complications during the follow-up. Therefore, they should be monitored regularly
{"title":"The Evaluation of the Children with Renal Transplant: Single Centre Experience","authors":"Muhammed Mustafa Özdemir, A. Pınarbaşı, Neslihan Günay, Aynur Gencer-Balaban, Sibel Yel, M. Poyrazoğlu, I. Dursun","doi":"10.38092/jpa-2020-760856","DOIUrl":"https://doi.org/10.38092/jpa-2020-760856","url":null,"abstract":"Objective: This study aimed to evaluate patients with renal transplantation in terms of clinical and laboratory.\u0000parameters.\u0000Material and Methods: This study was performed retrospectively with records of 48 patients who underwent renal\u0000transplantation before 18 years of age, between June 2008 and July 2019.\u0000Results: Congenital malformations of the urinary tract were the most common underlying causes of chronic kidney\u0000disease stage 5. Surgical complications occurred in 33.4% of the patients and BK viremia was the most common\u0000opportunistic viral infection during the follow-up. At the last clinic visit, 57.4% of our patients had CKD stage 1,\u0000hypertension and nephrotic range proteinuria were seen in eight and two patients, respectively.\u0000Conclusion: Although renal transplantation is the most ideal renal replacement therapy, patients may experience\u0000various complications during the follow-up. Therefore, they should be monitored regularly","PeriodicalId":118905,"journal":{"name":"The Journal of Pediatric Academy","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127039423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Hyperbilirubinemia is one of the common problems in newborns. If not diagnosed and treated in time, high bilirubin levels can cause kernicterus and permanent brain damage. Therefore, early detection of hyperbilirubinemia development risk in newborns is important. Our aim is to determine whether the cord blood bilirubin level and the direct coombs test can be used as determinant parameters in order to predict babies with a high risk of developing hyperbilirubinemia requiring treatment. Material and Method: During the process of creating a hyperbilirubinemia follow-up protocol at Ordu University Training and Research Hospital, 300 babies born between January -June 2014with a birth weight ≥ 2500 g and gestational week ≥ 37 weeks were included in the study. The results of the cord blood bilirubin in of these babies, direct coombs test, maternal and infant blood groups and serum bilirubin levels of those who were hospitalized for phototherapy treatment within the first 24 hours were analyzed retrospectively. Results: Phototherapy was given to 35 of 300 (11.7%) newborns included in the study within the first 24 hours after birth. Direct coombs test was positive in 25 of them (8.3%). Phototherapy was given to 80% (n: 20) of the cases whose direct coombs test was positive. ABO incompatibility was found in the etiology of 51.5% of the cases with hyperbilirubinemia. It has been observed that patients with positive direct coombs test have a high rate of hospitalization (p<0.001). Cord blood bilirubin levels were found to be statistically higher in cases who received phototherapy (2.7±1.0 and 1.8±0.6, respectively, p<0.01). In determining the need for phototherapy, sensitivity was 77.1%, specificity was 77.0%, and negative predictive value was 96% for the cut off value of 2.0 mg/dl of cord blood bilirubin. Conclusion: Cord blood bilirubin level and direct coombs test are useful in predicting the possibility of pathological hyperbilirubinemia and hospitalization in newborns. Thus, detection of risky newborns with a noninvasive method within a few hours after birth will prevent early discharge and provide close follow-up and early treatment.
{"title":"Can Phototherapy Requirements Be Predicted through Cord Blood Test Results in Newborns?","authors":"B. Hekimoğlu","doi":"10.38092/JPA-2020-48192","DOIUrl":"https://doi.org/10.38092/JPA-2020-48192","url":null,"abstract":"Objective: Hyperbilirubinemia is one of the common problems in newborns. If not diagnosed and treated in time, high bilirubin levels can cause kernicterus and permanent brain damage. Therefore, early detection of hyperbilirubinemia development risk in newborns is important. Our aim is to determine whether the cord blood bilirubin level and the direct coombs test can be used as determinant parameters in order to predict babies with a high risk of developing hyperbilirubinemia requiring treatment.\u0000Material and Method: During the process of creating a hyperbilirubinemia follow-up protocol at Ordu University Training and Research Hospital, 300 babies born between January -June 2014with a birth weight ≥ 2500 g and gestational week ≥ 37 weeks were included in the study. The results of the cord blood bilirubin in of these babies, direct coombs test, maternal and infant blood groups and serum bilirubin levels of those who were hospitalized for phototherapy treatment within the first 24 hours were analyzed retrospectively.\u0000Results: Phototherapy was given to 35 of 300 (11.7%) newborns included in the study within the first 24 hours after birth. Direct coombs test was positive in 25 of them (8.3%). Phototherapy was given to 80% (n: 20) of the cases whose direct coombs test was positive. ABO incompatibility was found in the etiology of 51.5% of the cases with hyperbilirubinemia. It has been observed that patients with positive direct coombs test have a high rate of hospitalization (p<0.001). Cord blood bilirubin levels were found to be statistically higher in cases who received phototherapy (2.7±1.0 and 1.8±0.6, respectively, p<0.01). In determining the need for phototherapy, sensitivity was 77.1%, specificity was 77.0%, and negative predictive value was 96% for the cut off value of 2.0 mg/dl of cord blood bilirubin.\u0000Conclusion: Cord blood bilirubin level and direct coombs test are useful in predicting the possibility of pathological hyperbilirubinemia and hospitalization in newborns. Thus, detection of risky newborns with a noninvasive method within a few hours after birth will prevent early discharge and provide close follow-up and early treatment.","PeriodicalId":118905,"journal":{"name":"The Journal of Pediatric Academy","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116296171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-12-27DOI: 10.38092/jpa-2020-849794
B. Cetin
After Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and the Middle East Respiratory Syndrome Coronavirus (MERS-CoV), SARS-CoV-2 is the newest member of the family of coronaviruses that are pathogenic to humans. The disease which occurs with SARS-CoV-2 is called coronavirus disease 2019 (COVID-19). COVID-19 was first described in December 2019 and has caused millions of people to get sick and hundreds of thousands of deaths over the past year. In this review, the epidemiology, diagnosis, clinical and aboratory features, radiological findings, treatment, and management of the disease are all reviewed from a pediatrician’s perspective. Post-infectious complications, the impact of COVID-19 on global child health, and vaccine developments were also discussed in this review.
{"title":"SARS-CoV-2 Infection in Children; What Do We Know So Far?","authors":"B. Cetin","doi":"10.38092/jpa-2020-849794","DOIUrl":"https://doi.org/10.38092/jpa-2020-849794","url":null,"abstract":"After Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and the Middle East Respiratory Syndrome Coronavirus (MERS-CoV), SARS-CoV-2 is the newest member of the family of coronaviruses that are pathogenic to humans. The disease which occurs with SARS-CoV-2 is called coronavirus disease 2019 (COVID-19). COVID-19 was first described in December 2019 and has caused millions of people to get sick and hundreds of thousands of deaths over the past year. In this review, the epidemiology, diagnosis, clinical and aboratory features, radiological findings, treatment, and management of the disease are all reviewed from a pediatrician’s perspective. Post-infectious complications, the impact of COVID-19 on global child health, and vaccine developments were also discussed in this review.","PeriodicalId":118905,"journal":{"name":"The Journal of Pediatric Academy","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124401580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：