Pub Date : 2024-04-01Epub Date: 2023-11-30DOI: 10.5546/aap.2023-10099.eng
María I Deregibus, Luis A Pompozzi, Gabriela Sansó
Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.
{"title":"Pheochromocytoma and paraganglioma at a children's hospital in Argentina. A case series.","authors":"María I Deregibus, Luis A Pompozzi, Gabriela Sansó","doi":"10.5546/aap.2023-10099.eng","DOIUrl":"10.5546/aap.2023-10099.eng","url":null,"abstract":"<p><p>Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138298188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-07-27DOI: 10.5546/aap.2023-10104.eng
Mariano E Ibarra
{"title":"What artificial intelligence can and cannot do (yet) in the scientific publishing world?","authors":"Mariano E Ibarra","doi":"10.5546/aap.2023-10104.eng","DOIUrl":"10.5546/aap.2023-10104.eng","url":null,"abstract":"","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10203284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction. Here we describe the interim results of the Program to Support Child Sleep from the Occupational Therapy Perspective (Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional, PASITO) for children with neurodevelopmental disorders (NDDs) aged 3-10 years with insomnia, conducted between June 2020 and September 2021. Population and methods. Pre- and post-intervention quasi-experiment in an intervention group and a control group using the Sleep Habits Questionnaire (SHQ) and the Consensus Sleep Diary (CSD). Results. A total of 22 children with NDDs participated, 8 in the control group. The overall SHQ score for the intervention group improved (p < 0.001) from 54.9 (SD: 5.5) to 48.4 (SD: 4.5) and moved closer to the reference range of 42.6 (SD: 4.9). The CSD showed an increased sleep duration, earlier sleep onset, and fewer night wakings. Conclusion. These interim favorable results demonstrate that the PASITO may be a possible intervention to manage sleep problems in children with NDDs.
{"title":"Program to Support Child Sleep from the Occupational Therapy Perspective during the COVID-19 pandemic.","authors":"Lorena Leive, Daniela Melfi, José Lipovetzky, Sebastián Cukier, Judith Abelenda, Rodolfo Morrison","doi":"10.5546/aap.2023-03029.eng","DOIUrl":"10.5546/aap.2023-03029.eng","url":null,"abstract":"<p><p>Introduction. Here we describe the interim results of the Program to Support Child Sleep from the Occupational Therapy Perspective (Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional, PASITO) for children with neurodevelopmental disorders (NDDs) aged 3-10 years with insomnia, conducted between June 2020 and September 2021. Population and methods. Pre- and post-intervention quasi-experiment in an intervention group and a control group using the Sleep Habits Questionnaire (SHQ) and the Consensus Sleep Diary (CSD). Results. A total of 22 children with NDDs participated, 8 in the control group. The overall SHQ score for the intervention group improved (p < 0.001) from 54.9 (SD: 5.5) to 48.4 (SD: 4.5) and moved closer to the reference range of 42.6 (SD: 4.9). The CSD showed an increased sleep duration, earlier sleep onset, and fewer night wakings. Conclusion. These interim favorable results demonstrate that the PASITO may be a possible intervention to manage sleep problems in children with NDDs.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10147922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-07-06DOI: 10.5546/aap.2023-03034.eng
Candelaria Serrano, Ivo Bedini, María V Demarchi
The bilateral presentation of peritonsillar abscess is uncommon. Its management is controversial and it has been argued whether a quinsy tonsillectomy or an interval tonsillectomy should be performed. Here we describe the case of a 14-year-old boy with sore throat, trismus, and fever. He had bilateral tonsillar hypertrophy, convex arches, and soft palate edema. Computed tomography: bilateral tonsillar hypertrophy, with post-contrast enhancement, both with collection, edema with moderate pharyngeal stenosis. The patient was hospitalized for intravenous therapy and tonsillectomy with bilateral drainage resulting in a complete resolution of his condition and discharge at 48 hours. In the presence of a peritonsillar abscess, an unsuspected contralateral abscess should be considered. It should be diagnosed and managed adequately to prevent complications. Quinsy tonsillectomy could be safe and should be considered in patients who will undergo anesthesia for abscess drainage. The final decision should be made for each patient on an individual basis.
{"title":"Bilateral peritonsillar abscess. A case report and review of controversies surrounding diagnosis and management.","authors":"Candelaria Serrano, Ivo Bedini, María V Demarchi","doi":"10.5546/aap.2023-03034.eng","DOIUrl":"10.5546/aap.2023-03034.eng","url":null,"abstract":"<p><p>The bilateral presentation of peritonsillar abscess is uncommon. Its management is controversial and it has been argued whether a quinsy tonsillectomy or an interval tonsillectomy should be performed. Here we describe the case of a 14-year-old boy with sore throat, trismus, and fever. He had bilateral tonsillar hypertrophy, convex arches, and soft palate edema. Computed tomography: bilateral tonsillar hypertrophy, with post-contrast enhancement, both with collection, edema with moderate pharyngeal stenosis. The patient was hospitalized for intravenous therapy and tonsillectomy with bilateral drainage resulting in a complete resolution of his condition and discharge at 48 hours. In the presence of a peritonsillar abscess, an unsuspected contralateral abscess should be considered. It should be diagnosed and managed adequately to prevent complications. Quinsy tonsillectomy could be safe and should be considered in patients who will undergo anesthesia for abscess drainage. The final decision should be made for each patient on an individual basis.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9696486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Brown-Séquard syndrome refers to a set of signs and symptoms caused by hemisection of the spinal cord from various sources. It may have multiple causes; traumatic injuries are the most frequent ones. The less common causes include inflammation, ischemia, tumors, or infections. This report is about a 12-year-old boy with an acute and progressive course of right hemisection of the spinal cord, with ipsilateral hypo/areflexic paralysis and contralateral loss of thermalgesic sensation. The MRI of the spinal cord showed inflammation in the right side of the spinal cord at the level of the second and third thoracic vertebrae. The patient was diagnosed with idiopathic transverse myelitis and was started on intravenous high-dose corticosteroids; he showed a favorable clinical course and recovered neurological functions.
{"title":"Brown-Séquard syndrome as a presentation of idiopathictransverse myelitis.","authors":"Estanislao Díaz Pumará, Ariel Cheistwer, Lorena Mirón, Beatriz Muracciole, Gabriela Peretti","doi":"10.5546/aap.2022-02978.eng","DOIUrl":"10.5546/aap.2022-02978.eng","url":null,"abstract":"<p><p>Brown-Séquard syndrome refers to a set of signs and symptoms caused by hemisection of the spinal cord from various sources. It may have multiple causes; traumatic injuries are the most frequent ones. The less common causes include inflammation, ischemia, tumors, or infections. This report is about a 12-year-old boy with an acute and progressive course of right hemisection of the spinal cord, with ipsilateral hypo/areflexic paralysis and contralateral loss of thermalgesic sensation. The MRI of the spinal cord showed inflammation in the right side of the spinal cord at the level of the second and third thoracic vertebrae. The patient was diagnosed with idiopathic transverse myelitis and was started on intravenous high-dose corticosteroids; he showed a favorable clinical course and recovered neurological functions.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10022149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-09-21DOI: 10.5546/aap.2022-02969.eng
Constanza Mena, Francisca Cortés, Macarena Romero
Introduction. The hospitalization of a baby in the neonatal intensive care unit may be highly stressful for both mothers and fathers, and this was even more intense in the context of the COVID-19 pandemic. To date, no studies have been found that describe the experience of fathers who underwent the simultaneous hospitalization of their partner and newborn infant during the COVID-19 pandemic. Objectives. To explore the experience of fathers who had their babies hospitalized in the Neonatal Unit while their partner were hospitalized due to worsening of COVID-19. Population and method. Four semi-structured interviews were conducted and analyzed using an interpretative phenomenological analysis. Results. Four moments were identified when specific emotions arose: a) onset of infection, b) partner hospitalization, c) baby birth, and d) baby hospitalization. Guilt, fear, death anxiety, loneliness, and uncertainty appear very early and are later combined with emotions such as happiness and empowerment, among others. The lack of physical contact with their partners and babies and failures in communication with the health care team stand out as factors that hinder the exercise of the paternal role, while an effective communication with the health care team and active participation in the baby's care are protective factors. Fathers fulfill multiple roles, the most important of which is their role as protectors. Conclusions. Family-centered communication and care and active involvement in baby care may potentially protect against the impact of this complex experience of double hospitalization.
{"title":"Supporting a double hospitalization during the pandemic: The experience of fathers whose infants were hospitalized while their mothers were also hospitalized due to COVID-19.","authors":"Constanza Mena, Francisca Cortés, Macarena Romero","doi":"10.5546/aap.2022-02969.eng","DOIUrl":"10.5546/aap.2022-02969.eng","url":null,"abstract":"<p><p>Introduction. The hospitalization of a baby in the neonatal intensive care unit may be highly stressful for both mothers and fathers, and this was even more intense in the context of the COVID-19 pandemic. To date, no studies have been found that describe the experience of fathers who underwent the simultaneous hospitalization of their partner and newborn infant during the COVID-19 pandemic. Objectives. To explore the experience of fathers who had their babies hospitalized in the Neonatal Unit while their partner were hospitalized due to worsening of COVID-19. Population and method. Four semi-structured interviews were conducted and analyzed using an interpretative phenomenological analysis. Results. Four moments were identified when specific emotions arose: a) onset of infection, b) partner hospitalization, c) baby birth, and d) baby hospitalization. Guilt, fear, death anxiety, loneliness, and uncertainty appear very early and are later combined with emotions such as happiness and empowerment, among others. The lack of physical contact with their partners and babies and failures in communication with the health care team stand out as factors that hinder the exercise of the paternal role, while an effective communication with the health care team and active participation in the baby's care are protective factors. Fathers fulfill multiple roles, the most important of which is their role as protectors. Conclusions. Family-centered communication and care and active involvement in baby care may potentially protect against the impact of this complex experience of double hospitalization.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10244333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-07-27DOI: 10.5546/aap.2023-10061.eng
Selene Pury, Milagros López Orozco, Gabriela Pichichero, Laura V Sasia, Daniela Morell, María S Álvarez, Ana L Basquiera, María E Mas, Karina Salvucci
Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.
威斯科特-阿尔德里奇综合征(WAS)是一种 X 连锁遗传病,由编码威斯科特-阿尔德里奇综合征蛋白(WASp)的基因突变引起。在此,我们报告了一个临床病例,一名18个月大的男童被诊断患有威斯科特-阿尔德里奇综合征,他没有HLA匹配的亲缘或非亲缘供体,但接受了来自单倍体家族供体的造血干细胞移植(HSCT),并取得了成功。移植抗宿主病(GvHD)的预防措施包括移植后环磷酰胺(PT-Cy)。移植后第 30 天,外周血有核细胞嵌合率为 100%,WAS 蛋白表达正常。目前,在移植后第 32 个月,患者的血液和免疫功能均已重建,供体嵌合完全,没有出现 GvHD 的迹象。对于这名无法获得 HLA 匹配供体的 WAS 患者来说,使用 PT-Cy 进行造血干细胞移植是一种可行且安全的选择。
{"title":"Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.","authors":"Selene Pury, Milagros López Orozco, Gabriela Pichichero, Laura V Sasia, Daniela Morell, María S Álvarez, Ana L Basquiera, María E Mas, Karina Salvucci","doi":"10.5546/aap.2023-10061.eng","DOIUrl":"10.5546/aap.2023-10061.eng","url":null,"abstract":"<p><p>Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9899448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-08-31DOI: 10.5546/aap.2023-10059.eng
Vanesa D Labanca, Pedro Giacomossi, Marcela Urtasun, Nicolás A Grisolia, Paula Domínguez
Introduction. Medical residency programs suffered changes that may have affected academic training during the COVID-19 pandemic. Objectives. To describe the perceptions of pediatric residents about the pandemic's impact on their education. To transculturally adapt and validate the COVID-19 Resident Education and Experience Survey into Spanish. Materials and methods. Observational, cross-sectional study. Participants were pediatric residents from hospitals across the country. The survey by Ostapenko et al. was used. A descriptive analysis was done using the SPSS software, version 21. The project was approved by the Institutional Ethics Committee. Results. The survey was completed by 127 residents. Most did more than 50 hours of health care activities before and during the pandemic. Also, 43.3% (95% CI: 35-52) spent at least 1 hour a day studying individually before the pandemic, while 63% (95% CI: 54.3-70.9) did so during the pandemic. In relation to the time spent doing academic work, 75.6% (95% CI: 67.4-82.2) reported that, before the pandemic, they spent at least 4 hours a week doing academic activities, dropping to 41.7% (95% CI: 33.5-50.4) during the pandemic. More than 60% (95% CI: 54.3-70.1) perceived that the pandemic impaired their training to become a specialist and 93.7% (95% CI: 88.1-96.8), that their stress levels increased. Conclusions. The perception was that participants spent less hours doing academic activities during the pandemic. Most surveyed participants mentioned that their stress levels increased and that the pandemic impaired their training to become a specialist.
{"title":"Pediatric residents' perceptions about the impact of the COVID-19 pandemic on their training.","authors":"Vanesa D Labanca, Pedro Giacomossi, Marcela Urtasun, Nicolás A Grisolia, Paula Domínguez","doi":"10.5546/aap.2023-10059.eng","DOIUrl":"10.5546/aap.2023-10059.eng","url":null,"abstract":"<p><p>Introduction. Medical residency programs suffered changes that may have affected academic training during the COVID-19 pandemic. Objectives. To describe the perceptions of pediatric residents about the pandemic's impact on their education. To transculturally adapt and validate the COVID-19 Resident Education and Experience Survey into Spanish. Materials and methods. Observational, cross-sectional study. Participants were pediatric residents from hospitals across the country. The survey by Ostapenko et al. was used. A descriptive analysis was done using the SPSS software, version 21. The project was approved by the Institutional Ethics Committee. Results. The survey was completed by 127 residents. Most did more than 50 hours of health care activities before and during the pandemic. Also, 43.3% (95% CI: 35-52) spent at least 1 hour a day studying individually before the pandemic, while 63% (95% CI: 54.3-70.9) did so during the pandemic. In relation to the time spent doing academic work, 75.6% (95% CI: 67.4-82.2) reported that, before the pandemic, they spent at least 4 hours a week doing academic activities, dropping to 41.7% (95% CI: 33.5-50.4) during the pandemic. More than 60% (95% CI: 54.3-70.1) perceived that the pandemic impaired their training to become a specialist and 93.7% (95% CI: 88.1-96.8), that their stress levels increased. Conclusions. The perception was that participants spent less hours doing academic activities during the pandemic. Most surveyed participants mentioned that their stress levels increased and that the pandemic impaired their training to become a specialist.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10107926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-08-31DOI: 10.5546/aap.2022-02972.eng
María B Fiora, María L Gonzalvez, Jimena P Aguirre, Alejandro Bacigalupo, Analía Garnero, Alejandra M Rosa, Mirian D Obrador, Claudia Grecco
Introduction. Dengue has been the most widespread mosquito-borne disease worldwide in recent years. It develops with a broad spectrum of clinical manifestations and sometimes progresses to a critical condition known as severe dengue. It is managed with supportive treatment. Available information about its clinical, epidemiological, and laboratory characteristics in the pediatric population is limited. Objective. To describe the clinical, epidemiological, and laboratory characteristics of dengue. Population and methods. Descriptive, observational, and retrospective study. It included patients aged 1 to 180 months seen due to probable or confirmed dengue at a children's hospital between 1/1/2020 and 5/31/2020. Results. A total of 85 patients with positive microbiological or clinical-epidemiological criteria were included. Of these, 25 (29%) were confirmed by RT-PCR; all corresponded to DENV-1 serotype. Patients' median age was 108 months (interquartile range: 84-144). The main clinical manifestations were fever, headache, and myalgia. The most important laboratory findings were leukopenia, thrombocytopenia, and high transaminase levels. Conclusion. The recognition and understanding of clinical and laboratory alterations that occur during dengue disease may allow an effective approach and help to reduce the more severe clinical form in children.
{"title":"Observational study of clinical, epidemiological, and laboratory characteristics of pediatric patients with dengue in the city of Córdoba.","authors":"María B Fiora, María L Gonzalvez, Jimena P Aguirre, Alejandro Bacigalupo, Analía Garnero, Alejandra M Rosa, Mirian D Obrador, Claudia Grecco","doi":"10.5546/aap.2022-02972.eng","DOIUrl":"10.5546/aap.2022-02972.eng","url":null,"abstract":"<p><p>Introduction. Dengue has been the most widespread mosquito-borne disease worldwide in recent years. It develops with a broad spectrum of clinical manifestations and sometimes progresses to a critical condition known as severe dengue. It is managed with supportive treatment. Available information about its clinical, epidemiological, and laboratory characteristics in the pediatric population is limited. Objective. To describe the clinical, epidemiological, and laboratory characteristics of dengue. Population and methods. Descriptive, observational, and retrospective study. It included patients aged 1 to 180 months seen due to probable or confirmed dengue at a children's hospital between 1/1/2020 and 5/31/2020. Results. A total of 85 patients with positive microbiological or clinical-epidemiological criteria were included. Of these, 25 (29%) were confirmed by RT-PCR; all corresponded to DENV-1 serotype. Patients' median age was 108 months (interquartile range: 84-144). The main clinical manifestations were fever, headache, and myalgia. The most important laboratory findings were leukopenia, thrombocytopenia, and high transaminase levels. Conclusion. The recognition and understanding of clinical and laboratory alterations that occur during dengue disease may allow an effective approach and help to reduce the more severe clinical form in children.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-07-06DOI: 10.5546/aap.2023-03031.eng
Jimena Dri, Eugenia Dos Santos, Marcela Pereyra, María J Guillamondegui, Celeste Ballester, Ana Tolin, Cristina Gatica
Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.
{"title":"Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.","authors":"Jimena Dri, Eugenia Dos Santos, Marcela Pereyra, María J Guillamondegui, Celeste Ballester, Ana Tolin, Cristina Gatica","doi":"10.5546/aap.2023-03031.eng","DOIUrl":"10.5546/aap.2023-03031.eng","url":null,"abstract":"<p><p>Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9696485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}