Solid abdominal malignancies are not frequent in children, however, they present with serious challenges for all of the experts dealing with the problem, and paediatric surgeons in particular. This review deals with the surgical approaches to most frequent abdominal tumors in children – neuroblastoma, hepatoblastoma and pancreatic tumors. Different aspects in the surgical treat ment of tumors of the retroperitoneum, liver and pancreas are discussed with an emphasis on the differences in surgical approaches between children and adults.
{"title":"Surgical approaches to paediatric abdominal malignancies","authors":"Danko Mikulic","doi":"10.13112/pc.2024.14","DOIUrl":"https://doi.org/10.13112/pc.2024.14","url":null,"abstract":"Solid abdominal malignancies are not frequent in children, however, they present with serious challenges for all of the experts dealing with the problem, and paediatric surgeons in particular. This review deals with the surgical approaches to most frequent abdominal tumors in children – neuroblastoma, hepatoblastoma and pancreatic tumors. Different aspects in the surgical treat ment of tumors of the retroperitoneum, liver and pancreas are discussed with an emphasis on the differences in surgical approaches between children and adults.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"12 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141813834","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}
{"title":"Bubrežna funkcija tijekom i nakon onkološkog liječenja","authors":"Slaven Abdović","doi":"10.13112/pc.2024.20","DOIUrl":"https://doi.org/10.13112/pc.2024.20","url":null,"abstract":"Not necessary.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"40 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141813117","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}
The paper presents the basic characteristics and standard of treatment for neuroblastoma and Wilms tumor. The age at which these tumors appear is related to an earlier age. Neuroblastoma occurs slightly more often in boys, while nephroblastoma occurs slightlymore often in girls. The localization and stage of the disease define the clinical presentation. Neuroblastoma occurs more often as a metastatic disease with the possibility of developing a paraneoplastic syndrome, while Wilms tumor occurs more often as a localized disease. After the initial diagnosis, which determines the stage and risk of the disease, neoadjuvant chemotherapy is started. After the reevaluation, an operation follows, followed by postoperative chemotherapy. Nephrectomy is still used in the operative treatment of unilateral Wilms tumor. The residual kidney tissue is preserved in the bilateral Wilms tumor and an individual approach is implemented. Low-risk neuroblastoma can be treated with observation, chemotherapy, and surgery. Megatherapy and autolo-gous stem cell transplantation are used in the treatment of high-risk neuroblastoma, followed later by immunotherapy and retinoid therapy. Radiotherapy is used in advanced stages of Wilms tumor and in high-risk neuroblastoma. The use of the radioactive isotope meta-iodobenzylguanidine (MIBG) is also possible in the treatment of neuroblastoma. Rapid diagnosis and intensity of treatment defined by the risk of tumor disease with the use of appropriate supportive therapy are the basis of care for neuroblastoma and Wilms tumor.
{"title":"Neuroblastom i Wilmsov tumor - standard liječenja","authors":"Jasminka Stepan Giljević","doi":"10.13112/pc.2024.11","DOIUrl":"https://doi.org/10.13112/pc.2024.11","url":null,"abstract":"The paper presents the basic characteristics and standard of treatment for neuroblastoma and Wilms tumor. The age at which these tumors appear is related to an earlier age. Neuroblastoma occurs slightly more often in boys, while nephroblastoma occurs slightlymore often in girls. The localization and stage of the disease define the clinical presentation. Neuroblastoma occurs more often as a metastatic disease with the possibility of developing a paraneoplastic syndrome, while Wilms tumor occurs more often as a localized disease. After the initial diagnosis, which determines the stage and risk of the disease, neoadjuvant chemotherapy is started. After the reevaluation, an operation follows, followed by postoperative chemotherapy. Nephrectomy is still used in the operative treatment of unilateral Wilms tumor. The residual kidney tissue is preserved in the bilateral Wilms tumor and an individual approach is implemented. Low-risk neuroblastoma can be treated with observation, chemotherapy, and surgery. Megatherapy and autolo-gous stem cell transplantation are used in the treatment of high-risk neuroblastoma, followed later by immunotherapy and retinoid therapy. Radiotherapy is used in advanced stages of Wilms tumor and in high-risk neuroblastoma. The use of the radioactive isotope meta-iodobenzylguanidine (MIBG) is also possible in the treatment of neuroblastoma. Rapid diagnosis and intensity of treatment defined by the risk of tumor disease with the use of appropriate supportive therapy are the basis of care for neuroblastoma and Wilms tumor.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"105 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141812480","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}
Marija Čatipović, Zrinka Puharić, Paula Čatipović, Jelena Schweigert
The aim of this study was to create a questionnaire that will enable the quantification of procedures, attitudes and knowledge of healthcare professionals on breastfeeding. The research was conducted on 370 healthcare workers (37 male and 333 female) who, in the period from 15/12/2020 until 15/03/2021, completed the online working version of the questionnaire. Statistical procedures of particle reduction and extraction of the main factors and calculation of construct validity (indicate the degree to which an instru- ment measures the trait or theoretical construct that it is intended to measure) resulted in a questionnaire on behavior, attitudes and knowledge of health workers about breastfeeding (BBAKQ prof ). The questionnaire consists of a scale of behavior (9 items), attitudes (19 items) and knowledge (20 items). The behavior scale shows satisfactory internal consistency (Cronbach’s Alpha = 0.70), and the factorial solution with three factors (Breastfeeding Support, Breastfeeding Cessation, and Wrong advice) explains 67.16% of the vari- ance (Kaiser-Meyer-Olkin test = 0.69, Bartlett’s test < 0.000). The extracted values of the average variance extracted for each latent variable are greater than 0.5 (0.55/0.63/0.72) which indicates good convergent validity. Heterotrait-monotrait (HTMT) ratio correla- tions (0.11/0.19/0.56) confirm good discriminant validity. The attitude scale has a high Cronbach’s Alpha (0.94), and the factorial solution with two factors (Positive attitudes on breastfeeding, Negative attitudes on breastfeeding) explains 61.65% of the variance (Kaiser-Meyer-Olkin test = 0.93, Bartlett’s test < 0.000). The average variance extracted values for each latent variable are greater than 0.5 (0.53/0.67), and the HTMT correlation ratio is 0.63, indicating good convergent and discriminant validity. The internal consistency of knowledge scale items on the BBAKQ prof. questionnaire is very good (KR20 = 0.81). The questionnaire could be used as an aid in research of contribution of healthcare workers to successful breastfeeding, it is free and available at the link provided in the text.
{"title":"Development and Validation of a Questionnaire on Breastfeeding Behavior, Attitudes and Knowledge in a Sample of Croatian Health Care Professionals","authors":"Marija Čatipović, Zrinka Puharić, Paula Čatipović, Jelena Schweigert","doi":"10.13112/pc.2023.1","DOIUrl":"https://doi.org/10.13112/pc.2023.1","url":null,"abstract":"The aim of this study was to create a questionnaire that will enable the quantification of procedures, attitudes and knowledge of healthcare professionals on breastfeeding. The research was conducted on 370 healthcare workers (37 male and 333 female) who, in the period from 15/12/2020 until 15/03/2021, completed the online working version of the questionnaire. Statistical procedures of particle reduction and extraction of the main factors and calculation of construct validity (indicate the degree to which an instru- ment measures the trait or theoretical construct that it is intended to measure) resulted in a questionnaire on behavior, attitudes and knowledge of health workers about breastfeeding (BBAKQ prof ). The questionnaire consists of a scale of behavior (9 items), attitudes (19 items) and knowledge (20 items). The behavior scale shows satisfactory internal consistency (Cronbach’s Alpha = 0.70), and the factorial solution with three factors (Breastfeeding Support, Breastfeeding Cessation, and Wrong advice) explains 67.16% of the vari- ance (Kaiser-Meyer-Olkin test = 0.69, Bartlett’s test < 0.000). The extracted values of the average variance extracted for each latent variable are greater than 0.5 (0.55/0.63/0.72) which indicates good convergent validity. Heterotrait-monotrait (HTMT) ratio correla- tions (0.11/0.19/0.56) confirm good discriminant validity. The attitude scale has a high Cronbach’s Alpha (0.94), and the factorial solution with two factors (Positive attitudes on breastfeeding, Negative attitudes on breastfeeding) explains 61.65% of the variance (Kaiser-Meyer-Olkin test = 0.93, Bartlett’s test < 0.000). The average variance extracted values for each latent variable are greater than 0.5 (0.53/0.67), and the HTMT correlation ratio is 0.63, indicating good convergent and discriminant validity. The internal consistency of knowledge scale items on the BBAKQ prof. questionnaire is very good (KR20 = 0.81). The questionnaire could be used as an aid in research of contribution of healthcare workers to successful breastfeeding, it is free and available at the link provided in the text.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368398","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}
Aim: The COVID -19 pandemic has changed the way people live, and children are particularly at risk because of their vulnerable age. The aim of this work was to evaluate the changes in nutritional status, physical activity, and eating habits of elementary school- aged children during the Covid 19 pandemic. Methods: The study was conducted from February to April 2021 and included 197 primary school children, 100 boys, and 97 girls. A questionnaire was used to collect data on lifestyle, eating habits, and physical activity outside school. The Mediterranean Diet Qual- ity Index for children and adolescents was used to determine membership in the Mediterranean diet. The kinanthropological and anthropological data of the students were obtained from the diary of the physical education and health teacher. Results: The average rating of the quality of the children’s diet, as determined by the Mediterranean Diet Quality Index for Children and Adolescents, showed a moderate affiliation with the Mediterranean diet. Before online instruction, 65.9% of students ate break- fast daily, whereas during online instruction, 75.7% ate breakfast (p< 0.001). Results showed that students exercised statistically sig- nificantly more before online instruction than during online instruction (p< 0.05). Students had weaker kinanthropological scores than before beginning online instruction. Conclusions: According to the results, students’ diet is of average quality, and some habits, such as breakfast, have improved, while physical activities have decreased significantly during the pandemic. Therefore, the promotion of proper nutrition and physical ac- tivity through public health programs should be emphasized to educate both children and parents about the importance of proper nutrition, physical activity, and responsible use of various media.
{"title":"Changes in nutritional status, physical activity habits, and diet of children in primary school during the COVID-19 epidemic","authors":"Sandra Pavičić Žeželj, Nataša Dragaš Zubalj, Dijana Tomić Linšak, Gordana Kenđel Jovanović, Matea Posedel","doi":"10.13112/pc.2023.2","DOIUrl":"https://doi.org/10.13112/pc.2023.2","url":null,"abstract":"Aim: The COVID -19 pandemic has changed the way people live, and children are particularly at risk because of their vulnerable age. The aim of this work was to evaluate the changes in nutritional status, physical activity, and eating habits of elementary school- aged children during the Covid 19 pandemic. Methods: The study was conducted from February to April 2021 and included 197 primary school children, 100 boys, and 97 girls. A questionnaire was used to collect data on lifestyle, eating habits, and physical activity outside school. The Mediterranean Diet Qual- ity Index for children and adolescents was used to determine membership in the Mediterranean diet. The kinanthropological and anthropological data of the students were obtained from the diary of the physical education and health teacher. Results: The average rating of the quality of the children’s diet, as determined by the Mediterranean Diet Quality Index for Children and Adolescents, showed a moderate affiliation with the Mediterranean diet. Before online instruction, 65.9% of students ate break- fast daily, whereas during online instruction, 75.7% ate breakfast (p< 0.001). Results showed that students exercised statistically sig- nificantly more before online instruction than during online instruction (p< 0.05). Students had weaker kinanthropological scores than before beginning online instruction. Conclusions: According to the results, students’ diet is of average quality, and some habits, such as breakfast, have improved, while physical activities have decreased significantly during the pandemic. Therefore, the promotion of proper nutrition and physical ac- tivity through public health programs should be emphasized to educate both children and parents about the importance of proper nutrition, physical activity, and responsible use of various media.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"110 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368399","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}
Rok Kralj, Bruno Bumči, Josip Pejić, Igor Bumči, Stjepan Višnjić, Rado Žic
Posterior sternoclavicular joint dislocation is a very rare injury, representing less than 5% of all shoulder girdle injuries. While anterior dislocations may be treated non-operatively, posterior dislocations should either be reduced closed or open and fixed. In cases of concomitant injuries to the mediastinal structures, an open reduction is mandatory. We present a case of a 15-year old boy who presented with a posterior sternoclavicular joint dislocation without concomitant injuries in whom we have performed a chest X-ray but a computerised tomography was needed for a definitive diagnosis. An open reduction and cerclage with 3 non-absorbable sutures provided a stable fixation and the patient remained free of symptoms during the follow-up period.
{"title":"Posterior sternoclavicular dislocation in a 15-year old boy: case report","authors":"Rok Kralj, Bruno Bumči, Josip Pejić, Igor Bumči, Stjepan Višnjić, Rado Žic","doi":"10.13112/pc.2023.5","DOIUrl":"https://doi.org/10.13112/pc.2023.5","url":null,"abstract":"Posterior sternoclavicular joint dislocation is a very rare injury, representing less than 5% of all shoulder girdle injuries. While anterior dislocations may be treated non-operatively, posterior dislocations should either be reduced closed or open and fixed. In cases of concomitant injuries to the mediastinal structures, an open reduction is mandatory. We present a case of a 15-year old boy who presented with a posterior sternoclavicular joint dislocation without concomitant injuries in whom we have performed a chest X-ray but a computerised tomography was needed for a definitive diagnosis. An open reduction and cerclage with 3 non-absorbable sutures provided a stable fixation and the patient remained free of symptoms during the follow-up period.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368401","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}
Aim: The purpose of the study was to determine the prevalence of symptoms and signs of kidney diseases in children in Slovenia and to gain insight into the burden of kidney diseases in children at the primary care level at the time of the COVID-19 pandemic. Methods: The study methodology was cross-sectional. Data were obtained via an anonymous online questionnaire sent to all pri- mary care paediatricians in Slovenia via e-mail. An exact binomial test was used for each symptom case in order to determine whether the proportion of symptoms and/or signs in the sample deviates from the “theoretical” prevalence reported in the literature. Results: Data were obtained from 65 paediatricians and 9829 evaluated children were included in the study. The proportion of chil- dren with some symptoms and signs of kidney diseases, mostly found incidentally, such as haematuria, proteinuria and hyperten- sion were lower than previously described in the literature. There was no statistically significant difference in the prevalence of symp- toms and signs suggesting serious kidney diseases, such as oedema or persistent proteinuria. The most common cause of children’s visit to the outpatient clinics at the primary care level due to symptoms and signs of kidney diseases was urinary tract infection. Conclusions: Children with serious kidney diseases were identified as commonly as described in the literature, despite the COVID-19 pandemic. The latter influenced negatively the discovery rate of symptoms and signs of kidney diseases that are found incidentally, such as haematuria, proteinuria and hypertension.
{"title":"Symptoms and signs of kidney diseases in children during COVID-19 pandemic in Slovenia","authors":"Lucija Tolar, Matjaž Kopač","doi":"10.13112/pc.2023.4","DOIUrl":"https://doi.org/10.13112/pc.2023.4","url":null,"abstract":"Aim: The purpose of the study was to determine the prevalence of symptoms and signs of kidney diseases in children in Slovenia and to gain insight into the burden of kidney diseases in children at the primary care level at the time of the COVID-19 pandemic. Methods: The study methodology was cross-sectional. Data were obtained via an anonymous online questionnaire sent to all pri- mary care paediatricians in Slovenia via e-mail. An exact binomial test was used for each symptom case in order to determine whether the proportion of symptoms and/or signs in the sample deviates from the “theoretical” prevalence reported in the literature. Results: Data were obtained from 65 paediatricians and 9829 evaluated children were included in the study. The proportion of chil- dren with some symptoms and signs of kidney diseases, mostly found incidentally, such as haematuria, proteinuria and hyperten- sion were lower than previously described in the literature. There was no statistically significant difference in the prevalence of symp- toms and signs suggesting serious kidney diseases, such as oedema or persistent proteinuria. The most common cause of children’s visit to the outpatient clinics at the primary care level due to symptoms and signs of kidney diseases was urinary tract infection. Conclusions: Children with serious kidney diseases were identified as commonly as described in the literature, despite the COVID-19 pandemic. The latter influenced negatively the discovery rate of symptoms and signs of kidney diseases that are found incidentally, such as haematuria, proteinuria and hypertension.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368395","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}
Gastrointestinal bezoars in the pediatric age group have an unusual presentation, and their clinical manifestation is mainly associ- ated with obstructive conditions of the gastrointestinal tract, and are generally made up of hair and food debris. In a smaller num- ber, it has been seen that from its usual location, which is the stomach, bezoar structures could extend into the duodenum, jejunum, ileum, and even colon, giving the appearance of a “Rapunzel tail”. We present the case of a 7-year-old girl with an atypical initial presentation of Rapunzel syndrome, secondary to a trichobezoar. The patient did not have previous psychiatric history, nor reports of any disturbance at school. She was admitted to the emergency room due to upper gastrointestinal bleeding and required a subsequent transfusion of blood products. During her hospitalization, an up- per digestive endoscopy was performed, with the diagnosis of Rapunzel syndrome, in addition to the presence of two Forrest II-C, III gastric ulcers and severe erythematous gastritis in the region of the antrum and body. Medical treatment was started without suc- cess, for which the bezoar had to be surgically removed. Therefore, we want to point out the importance of deepening certain aspects such as the medical history and background in this type of patient, since it is a disorder linked to behavioral and mood alterations; likewise, remember the less frequent clinical symp- toms such as upper gastrointestinal bleeding, but which in turn can be lethal if we don’t act promptly. In the same way, the compre- hensive approach with the support of the family and the intervention of psychology and/or psychiatry is vital to prevent recurrences.
{"title":"Upper gastrointestinal bleeding, an unusual presentation of Rapunzel syndrome","authors":"Carlos Torres-Salinas, David Anccasi-Hermoza","doi":"10.13112/pc.2023.6","DOIUrl":"https://doi.org/10.13112/pc.2023.6","url":null,"abstract":"Gastrointestinal bezoars in the pediatric age group have an unusual presentation, and their clinical manifestation is mainly associ- ated with obstructive conditions of the gastrointestinal tract, and are generally made up of hair and food debris. In a smaller num- ber, it has been seen that from its usual location, which is the stomach, bezoar structures could extend into the duodenum, jejunum, ileum, and even colon, giving the appearance of a “Rapunzel tail”. We present the case of a 7-year-old girl with an atypical initial presentation of Rapunzel syndrome, secondary to a trichobezoar. The patient did not have previous psychiatric history, nor reports of any disturbance at school. She was admitted to the emergency room due to upper gastrointestinal bleeding and required a subsequent transfusion of blood products. During her hospitalization, an up- per digestive endoscopy was performed, with the diagnosis of Rapunzel syndrome, in addition to the presence of two Forrest II-C, III gastric ulcers and severe erythematous gastritis in the region of the antrum and body. Medical treatment was started without suc- cess, for which the bezoar had to be surgically removed. Therefore, we want to point out the importance of deepening certain aspects such as the medical history and background in this type of patient, since it is a disorder linked to behavioral and mood alterations; likewise, remember the less frequent clinical symp- toms such as upper gastrointestinal bleeding, but which in turn can be lethal if we don’t act promptly. In the same way, the compre- hensive approach with the support of the family and the intervention of psychology and/or psychiatry is vital to prevent recurrences.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368400","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}
The clinical population of children with congenital brain malformations is very heterogeneous, being defined by the location and severity of the damaged part of the brain. Developmental profiles range from severe intellectual difficulties and inability to express through speech to milder clinical presentation that imply difficulties in the development of communication, language and speech. Children with congenital brain malformations often rely on augmentative and alternative communication (AAC) methods which enable them to express themselves or better understand language. The aim of this study is to describe the characteristics of communication, language and speech in a boy with congenital brain mal- formations and primary microcephaly and to determine the effectiveness of the introduction of augmentative and alternative com- munication on his communication, language and speech development. The speech therapy intervention was organized for 5 months. A low-tech tool (a communication book) and a high-tech communication tool (a nonspecialized tablet) were used to achieve the set goals of the intervention. Communication development was recorded using video analysis, and comprehension and word production data were collected using the MacArthur—Bates Communicative Development Inventory (CDI). During the five months of intervention, positive changes were observed in the boys’: a) patterns of communication functions, i.e., the frequency with which he communicate for specific functions, b) language production: increase in vocabulary size and language complexity, and c) use of speech as a primary mean of communication. The changes in communication tool use pattern, particularly the significant gains in the use of speech after the introduction of augmentative and alternative communication, are consistent with previous re- search on the importance of augmentative and alternative communication as an evidence-based intervention.
{"title":"The effectiveness of of the introduction augmentative and alternative communication in a child with congenital brain malformations","authors":"Patricia Orlić, Jasmina Ivšac Pavliša, Klara Popčević","doi":"10.13112/pc.2023.3","DOIUrl":"https://doi.org/10.13112/pc.2023.3","url":null,"abstract":"The clinical population of children with congenital brain malformations is very heterogeneous, being defined by the location and severity of the damaged part of the brain. Developmental profiles range from severe intellectual difficulties and inability to express through speech to milder clinical presentation that imply difficulties in the development of communication, language and speech. Children with congenital brain malformations often rely on augmentative and alternative communication (AAC) methods which enable them to express themselves or better understand language. The aim of this study is to describe the characteristics of communication, language and speech in a boy with congenital brain mal- formations and primary microcephaly and to determine the effectiveness of the introduction of augmentative and alternative com- munication on his communication, language and speech development. The speech therapy intervention was organized for 5 months. A low-tech tool (a communication book) and a high-tech communication tool (a nonspecialized tablet) were used to achieve the set goals of the intervention. Communication development was recorded using video analysis, and comprehension and word production data were collected using the MacArthur—Bates Communicative Development Inventory (CDI). During the five months of intervention, positive changes were observed in the boys’: a) patterns of communication functions, i.e., the frequency with which he communicate for specific functions, b) language production: increase in vocabulary size and language complexity, and c) use of speech as a primary mean of communication. The changes in communication tool use pattern, particularly the significant gains in the use of speech after the introduction of augmentative and alternative communication, are consistent with previous re- search on the importance of augmentative and alternative communication as an evidence-based intervention.","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136368397","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 : 2023-02-22eCollection Date: 2023-12-01DOI: 10.1002/wjo2.92
Hui Li, Shi-En Huang, Cong-Li Geng, Yu-Xiao Wu, Mu-Han Shi, Min Wang
Objectives: Allergic rhinitis (AR) refers to a form of respiratory inflammation that mainly affects the sinonasal mucosa. The purpose of this study was to explore the level of immune cell infiltration and the pathogenesis of AR.
Methods: We performed a comprehensive analysis of two gene expression profiles (GSE50223 and GSE50101, a total of 30 patients with AR and 31 healthy controls). CIBERSORT was used to evaluate the immune cell infiltration levels. Weighted gene coexpression network analysis was applied to explore potential genes or gene modules related to immune status, and enrichment analyses including gene ontology, Kyoto Encyclopedia of Genes and Genomes, gene set enrichment analysis, and gene set variation analysis, were performed to analyze the potential mechanisms in AR. A protein-protein interaction network was constructed to investigate the hub genes, and consensus clustering was conducted to identify the molecular subtypes of AR.
Results: Compared to the healthy controls, patients with AR had high abundance levels and proportions of CD4+ memory-activated T cells. One hundred and eight immune-related differentially expressed genes were identified. Enrichment analysis suggested that AR was mainly related to leukocyte cell-cell adhesion, cytokine-cytokine receptor interaction, T-cell activation, and T-cell receptor signaling pathway. Ten hub genes, including TYROBP, CSF1R, TLR8, FCER1G, SPI1, ITGAM, CYBB, FCGR2A, CCR1, and HCK, which were related to immune response, might be crucial to the pathogenesis of AR. Three molecular subtypes with significantly different immune statuses were identified.
Conclusion: This study improves our understanding of the molecular mechanisms in AR via comprehensive strategies and provides potential diagnostic biomarkers and therapeutic targets of AR.
{"title":"Comprehensive analysis reveals hub genes associated with immune cell infiltration in allergic rhinitis.","authors":"Hui Li, Shi-En Huang, Cong-Li Geng, Yu-Xiao Wu, Mu-Han Shi, Min Wang","doi":"10.1002/wjo2.92","DOIUrl":"10.1002/wjo2.92","url":null,"abstract":"<p><strong>Objectives: </strong>Allergic rhinitis (AR) refers to a form of respiratory inflammation that mainly affects the sinonasal mucosa. The purpose of this study was to explore the level of immune cell infiltration and the pathogenesis of AR.</p><p><strong>Methods: </strong>We performed a comprehensive analysis of two gene expression profiles (GSE50223 and GSE50101, a total of 30 patients with AR and 31 healthy controls). CIBERSORT was used to evaluate the immune cell infiltration levels. Weighted gene coexpression network analysis was applied to explore potential genes or gene modules related to immune status, and enrichment analyses including gene ontology, Kyoto Encyclopedia of Genes and Genomes, gene set enrichment analysis, and gene set variation analysis, were performed to analyze the potential mechanisms in AR. A protein-protein interaction network was constructed to investigate the hub genes, and consensus clustering was conducted to identify the molecular subtypes of AR.</p><p><strong>Results: </strong>Compared to the healthy controls, patients with AR had high abundance levels and proportions of CD4<sup>+</sup> memory-activated T cells. One hundred and eight immune-related differentially expressed genes were identified. Enrichment analysis suggested that AR was mainly related to leukocyte cell-cell adhesion, cytokine-cytokine receptor interaction, T-cell activation, and T-cell receptor signaling pathway. Ten hub genes, including <i>TYROBP</i>, <i>CSF1R</i>, <i>TLR8</i>, <i>FCER1G</i>, <i>SPI1</i>, <i>ITGAM</i>, <i>CYBB</i>, <i>FCGR2A</i>, <i>CCR1</i>, and <i>HCK</i>, which were related to immune response, might be crucial to the pathogenesis of AR. Three molecular subtypes with significantly different immune statuses were identified.</p><p><strong>Conclusion: </strong>This study improves our understanding of the molecular mechanisms in AR via comprehensive strategies and provides potential diagnostic biomarkers and therapeutic targets of AR.</p>","PeriodicalId":49715,"journal":{"name":"Paediatria Croatica","volume":"1 1","pages":"340-351"},"PeriodicalIF":0.0,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88885816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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