Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).

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.

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.

[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.

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.

[Recommendations about immunizations in patients with inborn errors of immunity].

Inborn errors of immunity (IEI) are a heterogeneous group of hereditary disorders that affect in number and/or function different components of the immune system, resulting in an increased risk and severity of infections, autoimmune diseases, allergic manifestations, autoinflammation and malignancy. Inactivated vaccines are generally safe in these patients, but may be ineffective in some cases, due to difference in immunogenicity. However, live viral and bacterial vaccines may lead to disease, with high morbidity and mortality, so it is essential a previous immunological work-out.

Adolescent idiopathic scoliosis: is there a relationship between Risser staging and the proximal humerus ossification system?

Purpose: To evaluate whether there is a mismatch between Risser staging and the proximal humerus ossification system (PHOS); and to analyze the correlation in the skeletal maturity stages between the two humeral epiphyses.

Methods: Data from patients aged 10 to 18 years with adolescent idiopathic scoliosis (AIS) seen between 2018 to 2021 were analyzed. In an anteroposterior (AP) spine radiograph the ossification process was evaluated using the Risser classification method and bilateral PHOS (if both humeral epiphyses were visualized).

Different evolution of methicillin-resistant and methicillin-susceptible infections, Argentina.

(SA) is widespread among healthcare-associated-(HA) and the community-associated-(CA) infections. However, the contributions of MRSA and MSSA to the SA overall burden remain unclear. In a nationally-representative-survey conducted in Argentina, 668 SA clinical isolates from 61 hospitals were examined in a prospective, cross-sectional, multicenter study in April 2015.

[Benefit of surgery in a case of negative motor focal epileptic seizures secondary to parietal cortical dysplasia].

Focal atonic seizures are recognized rarely as ictal phenomena, they can correspond to both generalized epilepsy and focal epilepsy. The areas of the brain involved in the management of this type of seizure are: the negative motor area and the primary motor and primary somatosensory cortices, although the neurophysiology that generates them is still unclear. We present the case of a patient with focal atonic seizures in the left upper limb, refractory to drug treatment.

[Pediatric telecardiology experience in the COVID-19 pandemic context].

Introduction: The COVID-19 pandemic has caused a global impact on public health services. Using new strategies through telehealth for the management of patients with congenital heart disease was the challenge.

Objective: To describe the experience in telecardiology, and the strategies implemented during the pandemic.

[Arterial ischemic stroke in childhood].

Despite advances in the identification and recognition of risk factors for pediatric arterial ischemic stroke, little progress has been made in hyperacute treatment. The most frequent risk factors are arteriopathies, cardiopathies, and thrombophilia. Early confirmation with neuroradiological studies is key to consider reperfusion therapies, which have limited evidence in pediatrics but a good safety profile.

[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].

Niemann-Pick type C (NPC) is a disorder of the lysosomal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurological / psychiatric and visceral symptoms, with wide variability in age of presentation, from prenatal / neonatal to adult-onset forms of the disease.

Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology.

Background: Light transmission aggregation (LTA) is used widely by the clinical and research communities. Although it is a gold standard, there is a lack of interlaboratory harmonization.

Objectives: The primary objective was to assess whether sources of activators (mainly adenosine diphosphate [ADP], collagen, arachidonic acid, epinephrine, and thrombin receptor activating peptide6) and ristocetin contribute to poor LTA reproducibility.

COVID-19 in immunocompromised children: comparison of SARS-CoV-2 viral load dynamics between the first and third waves.

SARS-CoV-2 dynamics across different COVID-19 waves has been unclear in immunocompromised children. We aimed to compare the dynamics of SARS-CoV-2 RNA viral load (VL) during the first and third waves of COVID-19 in immunocompromised children. A retrospective and longitudinal cohort study was conducted in a pediatric referral hospital of Argentina.

Time to surgery for adolescent idiopathic scoliosis: How long does it take? A multicenter study.

Study Design: Retrospective review of multicentric data.

Objectives: To estimate the time from initial visit to surgery in adolescent idiopathic scoliosis (AIS) patients and the main reasons for the time to surgery in a multicenter study.

Methods: This retrospective study evaluated 509 patients with AIS from 16 hospitals across six Latin American countries.

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Introduction: Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express extra-haematological clinical phenotypes.

Aim: To analyse the genotype/phenotype correlations in two unrelated boys with severe early childhood obesity (SCO), global developmental delay (GDD) and similar bleeding phenotype associated with comparable Xq27 deletions spanning the entire F9 and proximate genes, and characterise the pathogenic events estimating the most likely mutational mechanism involved.

Cross-cultural adaptation of the Dizziness Handicap Inventory - child/adolescent to Spanish version. Analysis of its application in children.

Background: The Dizziness Handicap Inventory (DHI) is a questionnaire to assess self-perception of disability produced by the effects of vestibular system disorders. It is a tool used by professionals who treat patients with balance disorders, although it is not widely used in children. The aim of this study is to carry out a cross-cultural and linguistic adaptation of the DHI children/adolescent in the Argentine population from a version already published in Portuguese and to evaluate it in a group of patients.

Evaluation of outpatient halo-gravity traction in patients with severe scoliosis: development of a monitoring device.

Introduction: Patients with severe spinal deformities represent a major clinical and surgical challenge. Halo-gravity traction (HGT) is a traditional method to correct the deformity prior to surgery. Typically, children undergoing HGT remain in the hospital until surgery.

Comparison of SARS-CoV-2 viral load in asymptomatic and symptomatic children attended in a referral public pediatric hospital in Argentina.

At present, different reports have shown that children reach similar SARS-CoV-2 viral load (VL) levels compared to adults; however, the impact of VL on children remains ambiguous when asymptomatic versus symptomatic cases are compared. Thus, the aim of this study was to assess VL at the time of diagnosis in asymptomatic and symptomatic SARS-CoV-2 infected children. VL analysis was retrospectively carried out from nasopharyngeal swabs on 82 SARS-CoV-2 infected children, from March to October 2020.

Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases.

Introduction: Isolated lateralized overgrowth (ILO), formerly referred to as hemihyperplasia/hemihypertrophy, is the overgrowth of one-half of the body to its contralateral in the absence of a recognizable pattern of malformations or genetic syndromes. Our objective was to analyze the growth clinical and radiological characteristics of patients with ILO under follow-up in a tertiary care hospital in Argentina between 1993 and 2020.

Population And Methods: Retrospective, observational, single cohort study of patients with ILO.

Dengue beyond the tropics: a time-series study comprising 2015-2016 versus 2019-2020 at a children's hospital in the City of Buenos Aires.

Introduction: Dengue is a public health problem worldwide. It was originally confined to tropical and subtropical areas, but it is now present in other regions, such as Argentina. Epidemic outbreaks have been observed in the City of Buenos Aires since 2008, with few reports in children.

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Objective: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants.

Methods: We identified 191 patients from 33 countries with 72 unique mutations.