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.

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.

Severe nephrotoxicity during high-dose methotrexate administration in an adolescent with acute lymphoblastic leukemia.

High-dose methotrexate is an effective and safe therapy. It is included in the treatment regimens of various hematologic and oncologic diseases. The acute and severe toxicity of this chemotherapeutic agent is unusual.

COMPARABLE OUTCOMES AFTER BUSULFAN- OR TREOSULFAN-BASED CONDITIONING FOR ALLO-HSCT IN CHILDREN WITH ALL-RESULTS OF FORUM.

The superiority of TBI-based versus chemotherapy-conditioning for allo-HSCT in children with ALL has been established in the international, prospective phase-III FORUM study (#NCT01949129), randomizing 417 patients ≤ 18 years at diagnosis (4-21 years at HSCT) in CR, transplanted from HLA-matched sibling or unrelated donors. Due to the unavailability of TBI in some regions and to accommodate individual contraindications, this study reports the pre-specified comparison of outcomes of patients receiving busulfan-based (BU) or treosulfan-based (TREO) regimens from 2013 to 2018. 180 and 128 patients (median age 9.

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.

Open-label, controlled, phase 2 clinical trial assessing the safety, efficacy, and pharmacokinetics of INM004 in pediatric patients with Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome.

Background: Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS) is a severe condition mainly affecting children. It is one of the leading causes of acute kidney injury in the pediatric population. There is no established therapy for this disease.

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.

Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures are typically drug-resistant and often accompanied by significant alterations in the electroencephalogram (EEG). DEEs are associated with neurodevelopmental impairment, which can arise from both the epileptic activity itself and the underlying etiology, which is most often genetic in origin.

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.

Clinical practices related to liberation from mechanical ventilation in Latin American pediatric intensive care units: survey of the Sociedad Latino-Americana de Cuidados Intensivos Pediátricos Mechanical Ventilation Liberation Group.

Objective: To address the current practice of liberating patients from invasive mechanical ventilation in pediatric intensive care units, with a focus on the use of standardized protocols, criteria, parameters, and indications for noninvasive respiratory support postextubation.

Methods: Electronic research was carried out from November 2021 to May 2022 in Ibero-American pediatric intensive care units. Physicians and respiratory therapists participated, with a single representative for each pediatric intensive care unit included.

The interplay between Helicobacter pylori infection and rs738409 PNPLA3 in metabolic dysfunction-associated steatotic liver disease.

Background: Recent studies have suggested an association between H. pylori and metabolic-disfunction associated fatty liver disease (MASLD). However, epidemiologic studies have yielded inconsistent results.

Using autologous umbilical cord blood and placental cells for hypoxic-ischemic encephalopathy: an exploratory safety and feasibility study.

Introduction. Hypoxic-ischemic encephalopathy (HIE) caused by lack of oxygen and perfusion to the brain can lead to acute neurological damage in newborns. Therapeutic hypothermia (TH) is the most effective and safest treatment.