{"title":"Genetic cholestasis: Clinical and laboratory features.","authors":"Mirta Ciocca, Fernando Álvarez","doi":"10.5546/aap.2024-10579.eng","DOIUrl":"https://doi.org/10.5546/aap.2024-10579.eng","url":null,"abstract":"<p><p>In recent years, access to high-performance genetic techniques has allowed new diagnoses to become evident, allowing us to say today that genetic causes represent more than one-third of the etiologies of cholestasis in newborns and infants. When faced with a pediatric patient with cholestasis, with similar clinical and biochemical findings, an early genetic diagnosis will facilitate specific treatment, delay or exclude invasive diagnostic procedures (for example, liver biopsy), and offer genetic counseling to the family. We recently published a classification of genetic cholestasis, considering how the molecular defect affects biliary secretion. In this opportunity, we briefly summarize each of them to facilitate their identification by the pediatrician, who is the first professional to detect them and promptly refer them to a high-complexity center.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410579"},"PeriodicalIF":0.7,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958964","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}
{"title":"José María Ceriani Cernadas.","authors":"Norma E Rossato","doi":"10.5546/aap.2025-10720.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10720.eng","url":null,"abstract":"","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510720"},"PeriodicalIF":0.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967216","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}
{"title":"On the Craft of Editing.","authors":"Fernando Ferrero","doi":"10.5546/aap.2025-10719.eng","DOIUrl":"https://doi.org/10.5546/aap.2025-10719.eng","url":null,"abstract":"","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202510719"},"PeriodicalIF":0.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963157","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}
L Johana Escobar Zuluaga, María de Las Mercedes Ruiz Brunner, Verónica Schiariti, María E Cieri, Eduardo Cuestas
{"title":"Interdisciplinary care in the rehabilitation process of children and adolescents with cerebral palsy in Argentina.","authors":"L Johana Escobar Zuluaga, María de Las Mercedes Ruiz Brunner, Verónica Schiariti, María E Cieri, Eduardo Cuestas","doi":"10.5546/aap.2024-10551.eng","DOIUrl":"10.5546/aap.2024-10551.eng","url":null,"abstract":"<p><p>Objective. To compare the differences between the characteristics of rehabilitation processes (dosage and interdisciplinary care) and the clinical and sociodemographic characteristics of children and adolescents with cerebral palsy (CP) attending rehabilitation centers in Argentina. Population and methods. This is a cross-sectional study with sequential sampling. Children and adolescents aged 2 to 19 with CP from 15 rehabilitation centers were included. Questionnaires and information from medical records were used. The chi-square test with Fisher or Man-Whitney correction was used to compare the differences between the response variables (dose and interdisciplinary care) with age, severity, social security, type of institution, and socioeconomic level (SEL). A bivariate analysis with odds ratio was performed to measure the magnitude of the association. Results. A total of 267 participants were included. In terms of dose, the median was 3.5 hours of therapy per week. Children of lower-middle SEL, without social security, and attending public institutions received fewer hours of therapy. No differences were found in the number of hours according to age and severity level; regarding the number of disciplines, in most children older than 11 years fewer disciplines were involved in the therapeutic process. Conclusion. Statistically significant differences in dosing and interdisciplinary care were found concerning age groups, SES, access to social security, and type of institution attended, but not with the level of motor impairment.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410551"},"PeriodicalIF":0.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972730","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}
{"title":"Expectations of medical students and pediatric residents in their professional development.","authors":"Francisco Tonini, Marcela Urtasun","doi":"10.5546/aap.2024-10606.eng","DOIUrl":"10.5546/aap.2024-10606.eng","url":null,"abstract":"<p><p>Introduction. The number of vacancies for medical residencies in Argentina, especially in pediatrics, has increased. Knowing some aspects of medical students (MS) and postgraduate students (PS) in pediatrics could explain this phenomenon. Objectives. Describe the motivational profile, the intention to migrate, and the perception of primary care in MS and PS in pediatrics. Population and methods. A cross-sectional study was conducted in a pediatric hospital in the City of Buenos Aires, on a self-administered survey between October 2023 and September 2024. Results. Eighty-two MSs and 48 PSs participated; 96.9% presented high intrinsic motivation, 29.2% had high extrinsic motivation, 17% intended to migrate, and 60.8% had a positive perception of primary health care. Conclusions. The majority showed high intrinsic motivation. The intention to migrate was low. More than half perceived primary health care positively.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410606"},"PeriodicalIF":0.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810396","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}
María I Urteneche, Norma E González, Eugenia Ginestet, Edith Macha Marín, Rosana Pereda, Pablo M Pablo M Cassanelli
{"title":"Diagnosis of central nervous system tuberculosis in pediatric patients.","authors":"María I Urteneche, Norma E González, Eugenia Ginestet, Edith Macha Marín, Rosana Pereda, Pablo M Pablo M Cassanelli","doi":"10.5546/aap.2024-10592.eng","DOIUrl":"10.5546/aap.2024-10592.eng","url":null,"abstract":"<p><p>Introduction. Central nervous system tuberculosis (CNS TB) represents a severe form of Mycobacterium tuberculosis (Mtb) infection. Late diagnosis is associated with increased mortality and neurological sequelae. Objective. To characterize CNS TB diagnosed in a pediatric hospital and describe the diagnostic elements, estimating their sensitivity. Materials and methods. An observational, retrospective study included CNS TB cases diagnosed between January 2013 and February 2022. Medical and laboratory records were reviewed, and epidemiological, clinical, imaging, cerebrospinal fluid cytochemical, and bacteriological data for mycobacteria were recorded. Results. Twenty-six cases of CNS TB were diagnosed, and 22 had pulmonary involvement. Ninety-six percent had neurological symptoms, with sensitivities of 46% for focal symptoms, 92% for meningeal symptoms, and 73% for the presence of fever. Hydrocephalus was more frequently observed in children under 5 years of age. In the study of cerebrospinal fluid, the clear aspect (92%) and proteins upon 1 g/L (50%) showed higher sensitivity, with higher levels in children under 5 years of age. As for microbiological results, smear microscopy was negative in all cases, while molecular biology and culture showed 61% and 75% sensitivity, respectively. The detection time was significantly shorter for molecular biology than for culture (p < 0.01). Conclusions. The presence of neurological symptoms, compatible cerebrospinal fluid, epidemiological link, and pulmonary involvement showed high sensitivity. Molecular biology allowed for earlier microbiological confirmation.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410592"},"PeriodicalIF":0.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810394","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}
{"title":"Interdisciplinary approach to the care of children and adolescents with special health needs: An integrative review.","authors":"Jenifer Villa-Velásquez, Katiuska Reynaldos-Grandón, Macarena Chepo Chepo, Flérida Rivera-Rojas, Miguel Valencia-Contrera","doi":"10.5546/aap.2024-10577.eng","DOIUrl":"10.5546/aap.2024-10577.eng","url":null,"abstract":"<p><p>Interdisciplinary work is key in patient care, especially in vulnerable populations such as children and youth with special health care needs (CYSHCN). However, there is little evidence of an approach with this perspective in practice. The study aimed to analyze the interdisciplinary approach in the care of CYSHCN. An integrative literature review was conducted, consulting the databases of PubMed, Web of Science (WoS), Scopus, CINAHL, and Virtual Health Library (VHL). From 3,032 initial records, 21 manuscripts were selected after applying filters, eliminating duplicates, and evaluating eligibility criteria. The results highlight the diverse study contexts of the interdisciplinary approach to CYSHCN care, highlighting benefits such as improved diagnostic evaluation, treatment planning, and satisfaction with care. However, it faces challenges such as a lack of leadership, insufficient training, and communication barriers.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410577"},"PeriodicalIF":0.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810398","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}
{"title":"New Argentine head circumference references for people with achondroplasia from 0 to 21 years of age.","authors":"Mariana Del Pino, Virginia Fano","doi":"10.5546/aap.2024-10565.eng","DOIUrl":"10.5546/aap.2024-10565.eng","url":null,"abstract":"<p><p>Introduction. Macrocephaly is a phenotypic feature of achondroplasia (ACH), the most common form of disproportionate short stature. In 2011, we published head circumference (HC) references for this population, but due to the scarcity of data about older ages, the centiles were estimated only up to 6 years of age. Objective. To estimated centiles of the HC between birth and 21 years of age for ACH. Population and methods. Data from children with ACH assisted between 1992 an 2024 at a thirdlevel hospital in Argentina were used for its estimation. The growth curves were adjusted using the LMS method. To evaluate the magnitude of the differences between the Argentine references of ACH and those of the general population, the 3, 50, and 97 centiles at different ages were plotted comparatively. Results. The HC of ACH was more significant at all ages than the general population's references. During the first year of life, males and females reach 84% and 86% of adult size, respectively, completing growth after 20 years of age. Conclusions. Due to the difference in cephalic size between the general population and ACH, it is essential to have specific references for this population. This will allow us to detect growth trajectories not attributed to ACH and to suspect deviations that require a rapid interdisciplinary approach.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410565"},"PeriodicalIF":0.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810401","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}
Jimena Dri, Eugenia Dos Santos, Adriana Fernández, Florencia Galdeano, María J Guillamondegui, Cristina Gatica
{"title":"Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.","authors":"Jimena Dri, Eugenia Dos Santos, Adriana Fernández, Florencia Galdeano, María J Guillamondegui, Cristina Gatica","doi":"10.5546/aap.2024-10522.eng","DOIUrl":"https://doi.org/10.5546/aap.2024-10522.eng","url":null,"abstract":"<p><p>Trichothiodystrophy is a rare neuroectodermal defect characterized by sparse and brittle hair, photosensitivity, intellectual disability, and short stature. With an incidence of 1.2 per million in Western countries, half of the reported cases have clinical and cellular photosensitivity associated with mutations in three subunits of the general transcription factor IIH complex, which is involved in transcription and nucleotide excision repair. Six patients with GTF2H5 mutations have been reported; this is the first report in Argentina. The patient was diagnosed at 3 years of age by \"tiger tail banding\" on polarized light microscopy, and at 9 years of age, it was confirmed by molecular biology. She presented growth retardation with more severe stunting and underweight than reported. Given the low prevalence and high clinical heterogeneity, a high index of suspicion is required for early diagnosis, interdisciplinary management, and genetic counseling.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410522"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762982","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}
Florencia I Palmieri, Mirta G Gryngarten, Andrea J Arcari, Verónica Umido, Analía V Freire
{"title":"Endocrine disruptors as risk factors for idiopathic premature thelarche in girls: A case-control study.","authors":"Florencia I Palmieri, Mirta G Gryngarten, Andrea J Arcari, Verónica Umido, Analía V Freire","doi":"10.5546/aap.2024-10501.eng","DOIUrl":"10.5546/aap.2024-10501.eng","url":null,"abstract":"<p><p>Introduction. Idiopathic premature thelarche (IPT) is defined as breast growth in girls before age 8 without activation of the gonadotrophic axis. Among the probable etiologies, endocrine disruptors (ED) with estrogenic action have been suggested. Objective. To evaluate whether there is an association between exposure and degree of exposure to the main EDs with estrogenic action in our environment and the development of IPT. Population and methods. Structured survey of caregivers of girls aged 3 to 8 years diagnosed with IPT and controls. The exposure evaluated included different EDs: bisphenol A (BPA), phytoestrogens, phthalates, and parabens, considering the degree of exposure according to weekly frequency. Results. Caregivers of 50 cases (7.2±1.3 years) and 48 controls (6.7±1.5 years) were interviewed. An association was found between IPT and exposure to phytoestrogens in food (OR: 14.6; 95%CI 1.8-118; p<0.01), the use of BPA containers exposed to temperature changes (OR 2.6; 95%CI 1.1-6.5; p<0.05), contact with phthalates (OR 2.9; 95%CI 1.2-7.5; p<0.05) and parabens (OR 2.7; 95%CI 1.2-6,1; p<0.05). In all the detailed EDs, we also found an association of IPT according to their degree of exposure. Conclusions. Exposure and degree of exposure to different sources of phytoestrogens, BPA, parabens, and phthalates were associated with the development of IPT.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":" ","pages":"e202410501"},"PeriodicalIF":0.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762966","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}