Ana-Maria Roxana Koller, Alexandra Man, C. Muntean
Objectives. Evaluation and therapeutic management of pediatric patients having Henoch-Schönlein purpura with renal and joint involvement and the importance of their follow-up in preventing complications. Material and Methods: The present study follows cases of two patients, diagnosed with Henoch-Schönlein purpura, with different degrees of compliance, in which the therapeutic approach was determined by the severity of the patient’s conditions. Outcomes. Two male children with Henoch-Schönlein purpura, aged 11 and 9, shared the same clinical features, including skin lesions and joint involvement. The first case may be distinguished from the second one, due to renal injury, a significantly worsen general condition, more widespread purpura, and lower treatment conformity. Laboratory analyses revealed elevated D-Dimers between inflammatory markers, therefore corticotherapy and anticoagulants were initiated. Under the prescribed treatment, both children’s shapes improved, but the first one decided to be discharged on request before being fully recovered. Conclusions. In addition to symptomatic treatment, leisure, corticotherapy administration, and monitoring levels in blood pressure and renal function, patient compliance is highly important related to the prevention of chronic kidney disease at a later stage.
{"title":"IgA vasculitis associated with renal and joint findings in children and correlation between patient’s compliance in treatment: A case series","authors":"Ana-Maria Roxana Koller, Alexandra Man, C. Muntean","doi":"10.37897/rjp.2023.2.2","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.2","url":null,"abstract":"Objectives. Evaluation and therapeutic management of pediatric patients having Henoch-Schönlein purpura with renal and joint involvement and the importance of their follow-up in preventing complications. Material and Methods: The present study follows cases of two patients, diagnosed with Henoch-Schönlein purpura, with different degrees of compliance, in which the therapeutic approach was determined by the severity of the patient’s conditions. Outcomes. Two male children with Henoch-Schönlein purpura, aged 11 and 9, shared the same clinical features, including skin lesions and joint involvement. The first case may be distinguished from the second one, due to renal injury, a significantly worsen general condition, more widespread purpura, and lower treatment conformity. Laboratory analyses revealed elevated D-Dimers between inflammatory markers, therefore corticotherapy and anticoagulants were initiated. Under the prescribed treatment, both children’s shapes improved, but the first one decided to be discharged on request before being fully recovered. Conclusions. In addition to symptomatic treatment, leisure, corticotherapy administration, and monitoring levels in blood pressure and renal function, patient compliance is highly important related to the prevention of chronic kidney disease at a later stage.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42291956","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}
Debbie Rose Komala, Pricilia Gunawan Halim, A. Yunanto, Pudji Andayani
Background. Acute bilirubin encephalopathy is an acute neurological manifestation due to indirect bilirubin deposits in the basal ganglia and brainstem nuclei. In several developed countries, the incidence reaches 0.6-2.5 cases/100,000 births, while a recent study in 8 hospitals in Indonesia showed an incidence rate of 2%. In this paper, we describe an acute bilirubin encephalopathy in a neonate with G6PD deficiency. Case Presentation. A 5-day-old male neonate was admitted to the ER with recurrent generalized tonic seizures which started 6 hours prior to admission. Post seizure, the neonate cried then fell asleep. He had seemed less active and did not want to breastfeed for the last 12 hours. The neonate was born at full term (3160 grams) by a spontaneous vaginal delivery in the hospital, APGAR score 7/9, mother blood type AB+. He was exclusively breastfed with adequate intake. Physically examined, the neonate was lethargic with flat anterior fontanelle, Kramer V jaundice, fever, hypertonia, decreased sucking reflex, physiologic reflexes +2/+2, Babinski +/+, without cranial nerve paresis. Laboratory results of total bilirubin 44.79 mg/dL (indirect 43.04 mg/dL; direct 1.75 mg/dL), Hb 14.2 g/dL, WBC 15,000/μL, reticulocytes 124,500/μL, negative Coombs’s test, blood type A+, peripheral blood morphology within normal limits. The neonate was planned for exchange transfusion, intensive (triple) phototherapy was performed while waiting for the exchange transfusion. Bilirubin levels fell significantly within 12 hours after phototherapy initiation. Phototherapy was continued, the neonate was discharged on the seventh day of hospitalization in good condition. During treatment, etiology tracking was performed towards G6PD (G6PD level: 6.6 U/dL). Conclusion. Acute bilirubin encephalopathy is a rare morbidity found in newborns. ABE that occurs in the first week of life, prompt further investigations other than physiologic jaundice. Most frequent etiologies are ABO incompatibility, G6PD deficiency, sepsis and hereditary spherocytosis. In this case, we found G6PD as the cause of acute bilirubin encephalopathy in the first week of life.
{"title":"Acute encephalopathy bilirubin in the first week of life: A case of G6PD-deficient neonate","authors":"Debbie Rose Komala, Pricilia Gunawan Halim, A. Yunanto, Pudji Andayani","doi":"10.37897/rjp.2023.2.3","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.3","url":null,"abstract":"Background. Acute bilirubin encephalopathy is an acute neurological manifestation due to indirect bilirubin deposits in the basal ganglia and brainstem nuclei. In several developed countries, the incidence reaches 0.6-2.5 cases/100,000 births, while a recent study in 8 hospitals in Indonesia showed an incidence rate of 2%. In this paper, we describe an acute bilirubin encephalopathy in a neonate with G6PD deficiency. Case Presentation. A 5-day-old male neonate was admitted to the ER with recurrent generalized tonic seizures which started 6 hours prior to admission. Post seizure, the neonate cried then fell asleep. He had seemed less active and did not want to breastfeed for the last 12 hours. The neonate was born at full term (3160 grams) by a spontaneous vaginal delivery in the hospital, APGAR score 7/9, mother blood type AB+. He was exclusively breastfed with adequate intake. Physically examined, the neonate was lethargic with flat anterior fontanelle, Kramer V jaundice, fever, hypertonia, decreased sucking reflex, physiologic reflexes +2/+2, Babinski +/+, without cranial nerve paresis. Laboratory results of total bilirubin 44.79 mg/dL (indirect 43.04 mg/dL; direct 1.75 mg/dL), Hb 14.2 g/dL, WBC 15,000/μL, reticulocytes 124,500/μL, negative Coombs’s test, blood type A+, peripheral blood morphology within normal limits. The neonate was planned for exchange transfusion, intensive (triple) phototherapy was performed while waiting for the exchange transfusion. Bilirubin levels fell significantly within 12 hours after phototherapy initiation. Phototherapy was continued, the neonate was discharged on the seventh day of hospitalization in good condition. During treatment, etiology tracking was performed towards G6PD (G6PD level: 6.6 U/dL). Conclusion. Acute bilirubin encephalopathy is a rare morbidity found in newborns. ABE that occurs in the first week of life, prompt further investigations other than physiologic jaundice. Most frequent etiologies are ABO incompatibility, G6PD deficiency, sepsis and hereditary spherocytosis. In this case, we found G6PD as the cause of acute bilirubin encephalopathy in the first week of life.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46600761","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}
Elena Catalina Petrov, Diana Anamaria Epure, Oana Aurelia Vladacenco, Daniela Dorina Vasile, Maria Lupu, Eugenia Roza, Raluca Ioana Teleanu
Morvan syndrome is a rare immune-mediated pathology involving the central, peripheral and autonomic nervous systems. Although it was described in adults, mostly as a paraneoplastic syndrome, it is rarely seen in pediatric patients. In this report, we present the case of a 15-year-old male patient who experienced insomnia, peripheral nerve hyperexcitability and autonomic signs, highly suggestive for Morvan syndrome, but prone to diagnostic dilemmas as well. The diagnosis was confirmed by the presence of antibodies against voltage-gated potassium channels (VGKC). This article aims to highlight the unique clinical picture of a rare syndrome, diagnostic pitfalls and treatment options in pediatric patients.
{"title":"LGI1 and CASPR2-related Morvan syndrome - diagnostic challenges in a pediatric case","authors":"Elena Catalina Petrov, Diana Anamaria Epure, Oana Aurelia Vladacenco, Daniela Dorina Vasile, Maria Lupu, Eugenia Roza, Raluca Ioana Teleanu","doi":"10.37897/rjp.2023.2.5","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.5","url":null,"abstract":"Morvan syndrome is a rare immune-mediated pathology involving the central, peripheral and autonomic nervous systems. Although it was described in adults, mostly as a paraneoplastic syndrome, it is rarely seen in pediatric patients. In this report, we present the case of a 15-year-old male patient who experienced insomnia, peripheral nerve hyperexcitability and autonomic signs, highly suggestive for Morvan syndrome, but prone to diagnostic dilemmas as well. The diagnosis was confirmed by the presence of antibodies against voltage-gated potassium channels (VGKC). This article aims to highlight the unique clinical picture of a rare syndrome, diagnostic pitfalls and treatment options in pediatric patients.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136300441","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}
Debashree Priyadarshini, O.Y. Pavan K Reddy, Rachita Sarangi, Antaryami Pradhan
Background. Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, having a varied clinical presentation in the pediatric age group. It can manifest with life-threatening complications when symptomatic. However, very few studies have been reported from Eastern India. In this study, we aim to analyze the demographics, clinical presentation, associated characteristics, laboratory and histopathological features, various modalities of diagnosis, and treatment for pediatric Meckel’s diverticulum. Results. 18 children were diagnosed with Meckel’s diverticulum. Children below five years of age accounted for the majority of cases, with almost 50% presenting before age two. A male predominance was seen in the study with a male-to-female ratio of 4:1. The presentation was usually acute with lower gastrointestinal bleeding being the most common symptom in our study. Open diverticulectomy was the most common surgical procedure performed. MD was found on the mesenteric surface of the distal ileum in two cases. Simultaneous endo colon (upper GI endoscopy & colonoscopy) followed by laparoscopic surgery was done in a single setup in two actively bleeding cases with negative Meckel’s scan. There was no mortality, and no complications were noted on follow-up. Conclusion. MD had an acute presentation with lower GI bleeding being the commonest presenting symptom. It can be found on the mesenteric surface of the distal ileum. Open diverticulectomy was the treatment of choice for symptomatic patients. Surgical removal of incidentally detected MD was not associated with adverse outcomes.
{"title":"Pediatric Meckel’s diverticulum: Experience from a tertiary center in Eastern India","authors":"Debashree Priyadarshini, O.Y. Pavan K Reddy, Rachita Sarangi, Antaryami Pradhan","doi":"10.37897/rjp.2023.2.6","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.6","url":null,"abstract":"Background. Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, having a varied clinical presentation in the pediatric age group. It can manifest with life-threatening complications when symptomatic. However, very few studies have been reported from Eastern India. In this study, we aim to analyze the demographics, clinical presentation, associated characteristics, laboratory and histopathological features, various modalities of diagnosis, and treatment for pediatric Meckel’s diverticulum. Results. 18 children were diagnosed with Meckel’s diverticulum. Children below five years of age accounted for the majority of cases, with almost 50% presenting before age two. A male predominance was seen in the study with a male-to-female ratio of 4:1. The presentation was usually acute with lower gastrointestinal bleeding being the most common symptom in our study. Open diverticulectomy was the most common surgical procedure performed. MD was found on the mesenteric surface of the distal ileum in two cases. Simultaneous endo colon (upper GI endoscopy & colonoscopy) followed by laparoscopic surgery was done in a single setup in two actively bleeding cases with negative Meckel’s scan. There was no mortality, and no complications were noted on follow-up. Conclusion. MD had an acute presentation with lower GI bleeding being the commonest presenting symptom. It can be found on the mesenteric surface of the distal ileum. Open diverticulectomy was the treatment of choice for symptomatic patients. Surgical removal of incidentally detected MD was not associated with adverse outcomes.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136369981","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}
Raluca Maria Vlad, Ruxandra Dobritoiu, Irina Gabriela Ionita, Miorita Toader
Foreign body ingestion is a frequent issue among the pediatric population, children under 4 years old being at high risk. The authors reviewed the literature considering the importance of a quick diagnosis and prompt distinction between various types of foreign bodies, thus resulting in the best therapeutic approach. The most common foreign bodies ingested are cited to be coins, button batteries, magnets and food bits. As for therapeutic approaches, references don’t place upper endoscopy as key curative method, in some cases outpatient follow-up is a better choice. Foreign body ingestion complications are usually rare, but sometimes life threatening (coins generate aorto-esophageal fistulas, fish bones cause intestinal perforation, magnets lead to intestinal obstructions and erosions). After carefully consulting the latest guidelines regarding management of foreign body ingestion, we put together an instructive diagram outlining curative procedures in these cases. This review summarizes diagnostic and therapeutic methods for the most common swallowed objects and provides a brief, concise, easy to use clinical practice algorithm, thus giving clinicians an excellent tool to manage these cases.
{"title":"Children would taste anything: foreign body ingestion – a multidisciplinary perspective and clinical practice algorithm","authors":"Raluca Maria Vlad, Ruxandra Dobritoiu, Irina Gabriela Ionita, Miorita Toader","doi":"10.37897/rjp.2023.2.4","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.4","url":null,"abstract":"Foreign body ingestion is a frequent issue among the pediatric population, children under 4 years old being at high risk. The authors reviewed the literature considering the importance of a quick diagnosis and prompt distinction between various types of foreign bodies, thus resulting in the best therapeutic approach. The most common foreign bodies ingested are cited to be coins, button batteries, magnets and food bits. As for therapeutic approaches, references don’t place upper endoscopy as key curative method, in some cases outpatient follow-up is a better choice. Foreign body ingestion complications are usually rare, but sometimes life threatening (coins generate aorto-esophageal fistulas, fish bones cause intestinal perforation, magnets lead to intestinal obstructions and erosions). After carefully consulting the latest guidelines regarding management of foreign body ingestion, we put together an instructive diagram outlining curative procedures in these cases. This review summarizes diagnostic and therapeutic methods for the most common swallowed objects and provides a brief, concise, easy to use clinical practice algorithm, thus giving clinicians an excellent tool to manage these cases.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136300437","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}
Children who have Attention-Deficit/Hyperactivity Disorder (ADHD) have a chronic behavioral disease. Children with ADHD have a hard time focusing and controlling their actions. One of the most difficult problems in controlling and treating this condition is early detection. There is yet to be discovered a reliable professional procedure for early detection of this condition. The electroencephalogram (EEG) is a useful neuroimaging technique for researching ADHD; one of the key goals is to define the EEG of ADHD youngsters. Numerous methods based on EEG signals have been put out in the literature to address this issue since they are an effective neuroimaging approach for studying ADHD. The best recording formats and channels for diagnosing ADHD, however, have not been the subject of many research. Machine learning (ML) and Artificial Intelligence (AI) strategies for identifying ADHD using EEG-based tools are discussed in this paper. Although, in the case of ADHD, the utilization of ML and AI approaches is restricted. However, the data clearly imply that combining EEG technologies with ML/AI may be utilized to detect ADHD. For categorizing adult ADHD subtypes based on EEG power spectra, ML algorithms that incorporate several classifiers are presented. A widely used deep learning (DL) method is the convolutional neural network (CNN). The use of DL approaches in ADHD research, on the other hand, is currently restricted. EEG has been used in studies to look for ADHD neurological connections. Recent advances in deep learning algorithms, particularly CNN, are anticipated to overcome the issue.
{"title":"Comprehensive review of EEG data classification techniques for ADHD detection using machine learning and deep learning","authors":"Nitin Ahire, R. Awale, Abhay Wagh","doi":"10.37897/rjp.2023.2.1","DOIUrl":"https://doi.org/10.37897/rjp.2023.2.1","url":null,"abstract":"Children who have Attention-Deficit/Hyperactivity Disorder (ADHD) have a chronic behavioral disease. Children with ADHD have a hard time focusing and controlling their actions. One of the most difficult problems in controlling and treating this condition is early detection. There is yet to be discovered a reliable professional procedure for early detection of this condition. The electroencephalogram (EEG) is a useful neuroimaging technique for researching ADHD; one of the key goals is to define the EEG of ADHD youngsters. Numerous methods based on EEG signals have been put out in the literature to address this issue since they are an effective neuroimaging approach for studying ADHD. The best recording formats and channels for diagnosing ADHD, however, have not been the subject of many research. Machine learning (ML) and Artificial Intelligence (AI) strategies for identifying ADHD using EEG-based tools are discussed in this paper. Although, in the case of ADHD, the utilization of ML and AI approaches is restricted. However, the data clearly imply that combining EEG technologies with ML/AI may be utilized to detect ADHD. For categorizing adult ADHD subtypes based on EEG power spectra, ML algorithms that incorporate several classifiers are presented. A widely used deep learning (DL) method is the convolutional neural network (CNN). The use of DL approaches in ADHD research, on the other hand, is currently restricted. EEG has been used in studies to look for ADHD neurological connections. Recent advances in deep learning algorithms, particularly CNN, are anticipated to overcome the issue.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47999761","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}
C. Singer, S. Coşoveanu, I. Petrescu, M. Singer, A. Dobrescu, M. Popescu, A. Popescu
Duchenne muscular dystrophy (DMD) is a severe, progressive and incurable X-linked genetic disorder. The article presents 18 children with DMD admitted between 2016-2022 in the Pediatric Clinic II, Emergency County Hospital in Craiova. The study looked at: the distribution according to residence, the average age when they walked, when they were diagnosed and when they walked in a wheelchair, heredocollateral and pathological antecedents, clinical manifestations, nutritional status, genetic tests and the evolution of these patients.
{"title":"Clinical-evolutionary considerations in Duchenne Dystrophy","authors":"C. Singer, S. Coşoveanu, I. Petrescu, M. Singer, A. Dobrescu, M. Popescu, A. Popescu","doi":"10.37897/rjp.2023.1.1","DOIUrl":"https://doi.org/10.37897/rjp.2023.1.1","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a severe, progressive and incurable X-linked genetic disorder. The article presents 18 children with DMD admitted between 2016-2022 in the Pediatric Clinic II, Emergency County Hospital in Craiova. The study looked at: the distribution according to residence, the average age when they walked, when they were diagnosed and when they walked in a wheelchair, heredocollateral and pathological antecedents, clinical manifestations, nutritional status, genetic tests and the evolution of these patients.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43773047","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}
D. Pop, Radu Samuel Pop, C. Schnell, Valentina Tarau-Sas, Edita-Gabriela Ichim, P. Cherecheș-Panța, D. Iacob, D. Gheban, S. Man, D. Farcău
Background. The clinical characteristics of patients with celiac disease cover a wide range of signs and symptoms. Our study aimed to describe the main clinical features and investigations performed on our celiac patients diagnosed in the past five years. Material and methods. We collected data from medical records of patients aged 0 to 18 years diagnosed with celiac disease. We included in the analysis patients newly diagnosed with celiac disease, in our department, between January 2017 and August 2022. Results. In this period, 30 children were diagnosed with celiac disease in our general pediatrics department. The mean age at diagnosis ± standard deviation was 6.3±4.2 years (median age=4.3 years). The period between onset of symptoms ranged between 3 months to 5 years (median=6 months). Twenty children (66%) had features of classical celiac disease. Thirteen/30 patients (43.3%) were found to have iron deficiency anemia at diagnosis. In 23/30 (76%) of the children, the values of the IgA-TGA were more than 10 times the upper limit of the normal values. Nineteen children were diagnosed between 2017 and 2019. Fifteen of these 19 patients (79%) were diagnosed based on positive levels of antibodies and duodenal biopsy samples showing Marsh 2 or 3 features, and 4/19 (21%) based on positive IgA-TGA and AEM and a genetic test showing HLA DQ2 and/or DQ8. Conclusions. Classical celiac disease remains the predominant phenotype in our patients. Adherence to new guidelines allowed in the past 2 years a diagnosis without histological examination of biopsy fragments in most of the patients.
{"title":"Diagnostic challenges in children with celiac disease. A five-year experience with new guidelines in a General Pediatrics Department","authors":"D. Pop, Radu Samuel Pop, C. Schnell, Valentina Tarau-Sas, Edita-Gabriela Ichim, P. Cherecheș-Panța, D. Iacob, D. Gheban, S. Man, D. Farcău","doi":"10.37897/rjp.2023.1.8","DOIUrl":"https://doi.org/10.37897/rjp.2023.1.8","url":null,"abstract":"Background. The clinical characteristics of patients with celiac disease cover a wide range of signs and symptoms. Our study aimed to describe the main clinical features and investigations performed on our celiac patients diagnosed in the past five years. Material and methods. We collected data from medical records of patients aged 0 to 18 years diagnosed with celiac disease. We included in the analysis patients newly diagnosed with celiac disease, in our department, between January 2017 and August 2022. Results. In this period, 30 children were diagnosed with celiac disease in our general pediatrics department. The mean age at diagnosis ± standard deviation was 6.3±4.2 years (median age=4.3 years). The period between onset of symptoms ranged between 3 months to 5 years (median=6 months). Twenty children (66%) had features of classical celiac disease. Thirteen/30 patients (43.3%) were found to have iron deficiency anemia at diagnosis. In 23/30 (76%) of the children, the values of the IgA-TGA were more than 10 times the upper limit of the normal values. Nineteen children were diagnosed between 2017 and 2019. Fifteen of these 19 patients (79%) were diagnosed based on positive levels of antibodies and duodenal biopsy samples showing Marsh 2 or 3 features, and 4/19 (21%) based on positive IgA-TGA and AEM and a genetic test showing HLA DQ2 and/or DQ8. Conclusions. Classical celiac disease remains the predominant phenotype in our patients. Adherence to new guidelines allowed in the past 2 years a diagnosis without histological examination of biopsy fragments in most of the patients.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42917967","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}
S. Vlaic, L. Ion, Ionela Alina Ganta, S. Diaconescu, C. Tanase
Gastroenteritis with Campylobacter has proven in the last decade to be one of the most common causes of bacterial enteritis in children. Objectives. The objective of the current study was to highlight the usefulness of using the leukergy test, a test characterized by the aggregation capacity and increased adhesiveness of leukocytes in the case of bacterial infections, in order to establish as early as possible, the bacterial etiology of campylobacteriosis compared to the time it takes to gather other bacteriological evidence. Materials and methods. This paper was based on a single center prospective case-control study conducted between June 2020 and May 2021 at Ponderas Academic Hospital, which involved 45 children hospitalized with medium and severe forms of gastroenteritis with Campylobacter jejuni, and a control group of 40 children who are clinically and biologically healthy. The property of aggregation, adhesiveness of leukocytes in peripheral blood of the 85 children included in the research was studied using the leukergia test. The results of the leukergia test were subsequently compared with other acute phase reactants, collected from the same blood sample: total leukocyte count (WBCC), total neutrophil count (NEUT), C-reactive protein (CRP). Results. Sensitivity, Specificity and Positive Predictive Value had values of: 93.3%, 82.50%, 85.71% for leukergy (%); 93.3%, 85%, 87.5% for WBCC with normal values; 88.89%, 82.5%, 85.11% NEUT and 95.56%, 97.5%, 97.7% for CRP. Conclusions. The leukergy test is a good predictor in the early establishment of bacterial etiology in the case of gastroenteritis with Campylobacter jejuni, being a quick and effective test price quality ratio. The leukergy test can be of real help through the additional information that it brings also in medical centers that do not have advanced investigative capabilities.
{"title":"The utility of leukergy test in gastroenteritis with Campylobacter in children","authors":"S. Vlaic, L. Ion, Ionela Alina Ganta, S. Diaconescu, C. Tanase","doi":"10.37897/rjp.2023.1.6","DOIUrl":"https://doi.org/10.37897/rjp.2023.1.6","url":null,"abstract":"Gastroenteritis with Campylobacter has proven in the last decade to be one of the most common causes of bacterial enteritis in children. Objectives. The objective of the current study was to highlight the usefulness of using the leukergy test, a test characterized by the aggregation capacity and increased adhesiveness of leukocytes in the case of bacterial infections, in order to establish as early as possible, the bacterial etiology of campylobacteriosis compared to the time it takes to gather other bacteriological evidence. Materials and methods. This paper was based on a single center prospective case-control study conducted between June 2020 and May 2021 at Ponderas Academic Hospital, which involved 45 children hospitalized with medium and severe forms of gastroenteritis with Campylobacter jejuni, and a control group of 40 children who are clinically and biologically healthy. The property of aggregation, adhesiveness of leukocytes in peripheral blood of the 85 children included in the research was studied using the leukergia test. The results of the leukergia test were subsequently compared with other acute phase reactants, collected from the same blood sample: total leukocyte count (WBCC), total neutrophil count (NEUT), C-reactive protein (CRP). Results. Sensitivity, Specificity and Positive Predictive Value had values of: 93.3%, 82.50%, 85.71% for leukergy (%); 93.3%, 85%, 87.5% for WBCC with normal values; 88.89%, 82.5%, 85.11% NEUT and 95.56%, 97.5%, 97.7% for CRP. Conclusions. The leukergy test is a good predictor in the early establishment of bacterial etiology in the case of gastroenteritis with Campylobacter jejuni, being a quick and effective test price quality ratio. The leukergy test can be of real help through the additional information that it brings also in medical centers that do not have advanced investigative capabilities.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46089058","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}
R. Vlad, Alexandra Coroleucă, Irina Dijmărescu, D. Păcurar
Objectives. The diagnostic approach in familial cholestasis cases involves using expensive investigations. The need for complex therapeutic resources is predictable. Material and methods. We present the case of a 3 years 5 months old boy diagnosed with cholestasis and liver cirrhosis, admitted in the Pediatrics Department of “Grigore Alexandrescu” Children’s Hospital for evaluation in order to check the criteria for liver transplantation. Outcomes. The patient is known to our clinic since he was 1 year 3 months; he was admitted at that time for green jaundice. He comes from a family with nine children, low socio-economic status and low education. The first four children have a different father, two of them were stillborn. The next five come from a consanguineous union (the father is maternal uncle of the mother): three (the patient included) presented with the same symptoms, two of them died before 3 years of age with liver cirrhosis. In time, infectious causes, autoimmune, neoplastic and metabolic disease were excluded. The liver biopsy describes cholestasis and fibrosis. Alagille syndrome and progressive familial intrahepatic cholestasis are still debated, but the genetic testing necessary for a positive diagnosis are not financially available to the family. The patient presents with failure to thrive, developmental delay, intense jaundice and pruritus, hippocratic fingers, dyspnea, enlarged abdomen with visible collateral circulation, significant hepatosplenomegaly. The lab tests show anemia, thrombocytopenia, liver cytolysis, normal gamma-glutamyl transferase, low prothrombin activity, normal renal function, no inflammatory syndrome, increased ammonia level, very high bile acids level. The upper endoscopy describes first degree esophageal varices and portal hypertensive gastropathy. A PELD (Pediatric End-Stage Liver Disease) score is calculated – 13.6 (76.3% one year survival rate on the transplant list, 90.9% one year survival rate after liver transplantation). The patient is enrolled on the transplant waiting list provided we would expect suboptimal results considering the developmental delay and difficult post-transplant monitoring. Conclusions. The low education level of the family correlated with a postponed positive diagnosis due to financial reasons and the lack of genetic advice already lead to the demise of four brothers. In this setting, the prognosis of the patient is very likely to be poor.
{"title":"Socio-economic issues in the diagnostic approach and decision to treat of a child with familial cholestasis","authors":"R. Vlad, Alexandra Coroleucă, Irina Dijmărescu, D. Păcurar","doi":"10.37897/rjp.2023.1.2","DOIUrl":"https://doi.org/10.37897/rjp.2023.1.2","url":null,"abstract":"Objectives. The diagnostic approach in familial cholestasis cases involves using expensive investigations. The need for complex therapeutic resources is predictable. Material and methods. We present the case of a 3 years 5 months old boy diagnosed with cholestasis and liver cirrhosis, admitted in the Pediatrics Department of “Grigore Alexandrescu” Children’s Hospital for evaluation in order to check the criteria for liver transplantation. Outcomes. The patient is known to our clinic since he was 1 year 3 months; he was admitted at that time for green jaundice. He comes from a family with nine children, low socio-economic status and low education. The first four children have a different father, two of them were stillborn. The next five come from a consanguineous union (the father is maternal uncle of the mother): three (the patient included) presented with the same symptoms, two of them died before 3 years of age with liver cirrhosis. In time, infectious causes, autoimmune, neoplastic and metabolic disease were excluded. The liver biopsy describes cholestasis and fibrosis. Alagille syndrome and progressive familial intrahepatic cholestasis are still debated, but the genetic testing necessary for a positive diagnosis are not financially available to the family. The patient presents with failure to thrive, developmental delay, intense jaundice and pruritus, hippocratic fingers, dyspnea, enlarged abdomen with visible collateral circulation, significant hepatosplenomegaly. The lab tests show anemia, thrombocytopenia, liver cytolysis, normal gamma-glutamyl transferase, low prothrombin activity, normal renal function, no inflammatory syndrome, increased ammonia level, very high bile acids level. The upper endoscopy describes first degree esophageal varices and portal hypertensive gastropathy. A PELD (Pediatric End-Stage Liver Disease) score is calculated – 13.6 (76.3% one year survival rate on the transplant list, 90.9% one year survival rate after liver transplantation). The patient is enrolled on the transplant waiting list provided we would expect suboptimal results considering the developmental delay and difficult post-transplant monitoring. Conclusions. The low education level of the family correlated with a postponed positive diagnosis due to financial reasons and the lack of genetic advice already lead to the demise of four brothers. In this setting, the prognosis of the patient is very likely to be poor.","PeriodicalId":33512,"journal":{"name":"Revista Romana de Pediatrie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44401020","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}
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