Archivos argentinos de pediatria最新文献

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.

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.

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.

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.

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.

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.

Rhabdomyolysis is the clinical picture characterized by the destruction of skeletal muscle. It is associated with the consequent elevation of serum creatine kinase above five times its standard value or greater than 1,000 U/L. Its most frequent causes are acquired. However, less frequent causes, such as congenital metabolic diseases, should be considered when the rhabdomyolysis event recurs. We describe the case of a pediatric patient with recurrent rhabdomyolysis, which triggered by a type IX glycogenosis with a PHKA1 gene mutation. This pathogenic variant generates muscle phosphorylase kinase enzyme deficiency, hindering the use of glycogen as an energy source during prolonged fasting or metabolic demands. We consider it essential to increase knowledge about these entities in the face of recurrent rhabdomyolysis in the pediatric age for early detection and timely referral to a specialist.

Introduction. In pediatrics, dengue is usually oligosymptomatic; however, severe cases may occur. The objective is to describe severe dengue cases admitted to a pediatric hospital during the 2023-2024 dengue outbreak. Population and methods. A retrospective descriptive cross-sectional study included all patients with severe dengue. Results. Of the 205 patients hospitalized for dengue, 10 cases corresponded to severe dengue, of which 5 had no risk factors. The median age was 12 years. Seven patients required intensive care; 6 had transaminase values higher than 1000 U/L, and one patient died. Regarding serotyping, 7 cases corresponded to DEN-2. Conclusion. Severe dengue in pediatrics can occur with or without comorbidities in all age groups. The most affected target organ was the liver, although encephalitis and myocarditis may occur.

Dyschezia and constipation in infants are functional digestive disorders that have defecatory difficulty in common and differ fundamentally in the age of presentation and the consistency of the stool. Both disorders generate concern in parents and frequent consultations with the health system. Dyschezia is a self-limited functional digestive disorder resulting from incoordination in the evacuation mechanism. On the other hand, functional constipation is fundamentally linked to retentive behavior related to pain and fear of evacuation and sometimes requires nutritional and/or pharmacological intervention. Studies that observed the natural history of children with dyschezia showed that there is no causal relationship between dyschezia and functional constipation, so they should be considered two different entities. Both require, for their better management, family support through educational, clear, and reassuring messages to be included in the medical consultation.

From its origins, the doctor-patient relationship accompanied the social and cultural changes that have been modeling different forms of interhuman relationships. However, paternalism remained almost unchanged. Only in the 1970s, hand in hand with postmodern thought and the centrality of ethical, psychological, social and anthropological disciplines, respect for the autonomy of patients began to develop, which constituted the essence of a radical change. “Four models of doctor-patient relationship” are described depending on the objectives of the interaction between the actors, the doctor’s obligations and the patient’s values. Some particularities are detailed in the decision-making of children and adolescents, the doctrine of themature minor, and progressive autonomy where the need for informed consent that reflects the autonomy of this age group is evident. It is worth highlighting the importance of communication in the development of a relationship in which the different models can collaborate with a genuine practice of autonomy for patients and their families.