Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Survey of Latin American ketogenic diet centers: Challenges and success for "La Terapia Cetogénica".

Objective: Despite growing recognition of the efficacy of ketogenic diet therapies (KDT) in reducing seizure frequency and improving the quality of life for individuals with epilepsy, several factors hinder their widespread adoption across Latin America. Specific challenges in the region have been discussed but not formally studied. Currently, no data exist on the availability and operation of KDT teams in the region.

Hemolytic disease of the fetus and newborn: pregnant person's and fetal immune systems interaction.

There exists a need to research new diagnostic and therapeutic approaches that consider hemolytic disease of fetus and newborn (HDFN)'s physiopathology and focus not only on the pregnant person's immune system but also on the fetal immune system. This implies, in the final sense, to view the fetus as our patient. In spite of having found a safe and efficient method of prevention of HDFN more than 50 years ago, HDFN continues to be a relevant cause of perinatal morbidity and mortality, due to lack of access to immunoprophylaxis.

Osteoarticular tuberculosis: imaging findings in pediatric patients.

Osteoarticular tuberculosis (TB) is an uncommon form of extrapulmonary TB that has the potential to damage joints and bones, generating long-term impairment. Mainly, the initial diagnosis of osteoarticular TB relies on clinical findings and imaging. When required, imaging can aim for less invasive tissue or fluid sampling for pathology, microbiology, and molecular biology analysis.

[Guide to the treatment of paediatric strokes. Iberoamerican Academy of Pediatric Neurology].

A paediatric stroke is a rare entity that can occur at any age. It may be arterial or venous, ischemic or haemorrhagic, and may occur in the neonatal or paediatric stage of life, as well as in adolescence. Prompt diagnosis means that adequate treatment can be administered and prevents recurrence, minimising the percentage of sequelae.

Clinical and epidemiological characteristics of children with mosquito-borne diseases in a tertiary hospital, Buenos Aires, Argentina, 2023.

Introduction. Arboviruses, such as dengue and chikungunya, have caused multiple epidemics in the Americas. They are transmitted through mosquito bites; Aedes aegypti is their main vector.

Response assessment in pediatric neurooncology (RAPNO) criteria revisited: a practical navigation guide for neuroradiologists.

The Response Assessment in Pediatric Neuro-Oncology (RAPNO) Working Group is an international, collaborative network of experts dedicated to pediatric central nervous system (CNS) tumors that was created in 2011. Since then, six RAPNO articles with imaging guidelines for response assessment in diverse pediatric tumor subgroups have been published, namely: 1) medulloblastomas and leptomeningeal seeding tumors (2018), 2) pediatric high-grade gliomas (2020), 3) pediatric low-grade gliomas (2020), 4) diffuse intrinsic pontine gliomas (2020), 5) pediatric intracranial ependymomas (2022) and 6) pediatric craniopharyngiomas (2023). The purpose of this article is to review all current available RAPNO criteria using a systematized and comparative approach centered on the role of neuroradiologists and supported by neuroimaging examples.

Surgical treatment algorithm for thoracic and lumbar hyperkyphosis in pediatric population.

Purpose: There is no standardized and universally accepted surgical treatment for thoracic and lumbar hyperkyphosis in children. A surgical treatment algorithm was developed to aid in the choice of the appropriate corrective technique.

Methods: A retrospective analysis was conducted of patients younger than 18 years who underwent primary correction surgery and posterior fusion for thoracic and lumbar hyperkyphosis.

Intrathyroidal neurofibroma, a case report.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It is characterized by café-au-lait spots, melanocytic hamartomas of the iris, pseudo-freckles, neurofibromas, and tumor predisposition. The presence of neurofibromas in the thyroid gland is extremely rare.

[The impact of congenital heart disease on neurodevelopment].

It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status.

[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].

Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized.