Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Context: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction, with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported.

Characteristics of Transport of Ill Pediatric Patients in the Emergency Department: A Latin America Multicenter Prospective Study.

Objective: The aim was to describe the characteristics of the transport system of critically ill pediatric patients in the emergency departments (EDs) in Latin America (LA).

Methodology: This is a prospective cross-sectional study in a 1-year period. Patients were recruited on days 1, 7, 14, 21, and 28 of each month in the EDs in LA.

HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.

The relevance of molecular mechanisms governing mitochondrial proteostasis to the differentiation and function of hematopoietic and immune cells is largely elusive. Through dissection of the network of proteins related to HCLS1-associated protein X-1, we defined a potentially novel functional CLPB/HAX1/(PRKD2)/HSP27 axis with critical importance for the differentiation of neutrophil granulocytes and, thus, elucidated molecular and metabolic mechanisms underlying congenital neutropenia in patients with HAX1 deficiency as well as bi- and monoallelic mutations in CLPB. As shown by stable isotope labeling by amino acids in cell culture (SILAC) proteomics, CLPB and HAX1 control the balance of mitochondrial protein synthesis and persistence crucial for proper mitochondrial function.

[Clinical guidelines for the managment of intestinal failure secondary to pediatric short bowel syndrome].

Intestinal failure secondary to short bowel syndrome in pediatrics, is a rare condition with high morbimortality. A follow up multidisciplinary team is necessary to minimize complications and optimize the intestinal rehabilitation. There are no gold standard guidelines for the management of this group of complex patients.

Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children's hospitals.

A pilomatrixoma is a benign skin tumor common in children, which develops from the matrix cells of hair follicles. It presents as a nodule or tumor of approximately 0.5-3 cm in size, with calcium-like consistency, faceted edges, and blue erythematous overlying skin.

Recommendations for the management of pediatric septic shock in the first hour (part two).

In 2016, the Surviving Sepsis Campaign and the National Institute for Health and Care Excellence (NICE) developed clinical practice guidelines for the management of pediatric septic shock. In 2017, the American College of Critical Care Medicine (ACCM) updated its recommendations for hemodynamic support of pediatric shock. Recognizing septic shock is critical, as well as an optimal, time-sensitive treatment.

Recommendations for the management of pediatric septic shock in the first hour (part one).

In the past two years, different organizations have updated their clinical practice guidelines for hemodynamic support in pediatric septic shock. The studies conducted in adults have questioned the initial management of sepsis in accordance to protocols based on achieving various goals. However, the usefulness of these protocols in children has been demonstrated.

Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL.

Genetic abnormalities provide vital diagnostic and prognostic information in pediatric acute lymphoblastic leukemia (ALL) and are increasingly used to assign patients to risk groups. We recently proposed a novel classifier based on the copy-number alteration (CNA) profile of the 8 most commonly deleted genes in B-cell precursor ALL. This classifier defined 3 CNA subgroups in consecutive UK trials and was able to discriminate patients with intermediate-risk cytogenetics.

Prediction of height and body mass index based on body segments: Use of Gauld's equations in an Argentine sample.

Introduction: When height cannot be measured or does not account for actual bone growth in children, due to their condition, it may be estimated using equations based on body segments.

Objetives: 1. To compare observed height (OH) and predicted height (PH) based on body segments using the equations of Gauld et al.

Primary cutaneous lymphoma in Argentina: a report of a nationwide study of 416 patients.

Background: The aim of this study was to determine the relative frequency of primary cutaneous lymphoma (PCL) in Argentina according to the new World Health Organization (WHO)-European Organization for the Research and Treatment of Cancer (EORTC) classification system.

Methods: A total of 416 patients from 21 dermatology services were included during a 5-year period (2010-2015); these patients were classified using WHO-EORTC criteria.

Results: There were 231 (55.

[Argentine consensus on late-onset Pompe's disease].

Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013.

[Autistic regression: clinical and aetiological aspects].

Introduction: Autism spectrum disorders are neurodevelopmental dysfunctions that are characterised by deficits in social integration and communication, associated with restricted interests and stereotypic behaviour. A high percentage are related to language disorders, sensory dysfunctions, attention deficit disorder, bipolarity, intellectual disability or epilepsy, among other comorbidities. It is estimated that around 30% of children with autism, with typical early development, may present regression in the first years of life, which was already reported by Kanner in one of his original cases.

Enterovirus D68 infection in a cluster of children with acute flaccid myelitis, Buenos Aires, Argentina, 2016.

Objective: To report a outbreak of 11 cases of acute asymmetric flaccid myelopathy due to spinal motor neuron injury.

Material And Methods: Eleven children, six male, with a mean age of 3 years presented with acute flaccid myelitis. We analyzed clinical features, etiology, neuroradiological images, treatment, and outcome.

The MLL recombinome of acute leukemias in 2017.

Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified.

[Nicolau syndrome induced by intramuscular injection of a hexavalent vaccine in a 6-month-old girl].

Nicolau syndrome, also known as embolia cutis medicamentosa or livedo-like dermatitis, is a sudden tissue necrosis, a rare complication of intramuscular injection of some drugs. We report a case of a 6-month-old girl who received intramuscularly the third dose of hexavalent vaccine (DTaP- HVB-IPV/HIb), and immediately presented a livedoid lesion around the injection site, progressing to necrosis. We reinforce the importance of early diagnosis to perform a suitable treatment and clinical follow-up to avoid ischemic secondary complications.

[National consensus on the ketogenic diet].

Introduction: Epilepsy is a chronic disease with onset in infancy affecting 0.5-1% of the population. One third of the patients is refractory to antiepileptic drugs and they pose a challenge for the health care team.

Macrolide resistance in Streptococcus pneumoniae isolated from Argentinian pediatric patients suffering from acute otitis media.

Macrolide-resistant Streptococcus pneumoniae emerged in Argentina in 1995, representing 26% of invasive infection isolates in children under 5 years old. The objectives of this study were to describe the prevalence of ermB and mefA genes in macrolide-resistant S. pneumoniae isolates from acute otitis media (AOM) and to determine their genetic relatedness.

Relevance of early detection of HIV type 1 SI/CXCR4-using viruses in vertically infected children.

The aim of the study was to investigate the prevalence and persistence of syncytium-inducing (SI) strains in HIV-1-infected children along time of infection and to evaluate the influence of antiretroviral therapy and host factors on viral tropism. This is a retrospective analysis carried out in 267 HIV-1 vertically infected children from an Argentinean cohort. The viral phenotype was screened in MT-2 cells and coreceptor usage confirmed by the GHOST cell assay.

[Therapeutic monitoring of vancomycin in critical care pediatric patients].

Introduction: Vancomycin is used in pediatric patients usually at 40 mg/kg/day four times daily. Recent data demonstrated the need of large doses to reach therapeutic concentrations in critical patients.

Objective: Describe dosage regime of vancomycin in patients from a pediatric intensive care unit, register values of plasmatic concentrations and determine the regimes necessary to reach therapeutic troughs.

Antibodies to hepatitis C and other viral markersin multi-transfused patients from Argentina.

Background: The knowledge of transfusion-transmitted viral infections in Argentina is scarce. A regional study organized by the Pan American Health Organization let us asses the current status.

Objectives: To estimate the prevalence of HCV, HBV and HIV infection in a population of multi-transfused Argentinean patients.

Percutaneous treatment of osteoid osteoma by CT-guided drilling resection in pediatric patients.

Background: Osteoid osteoma is a painful, benign, small osteogenic bone tumor. For a long time, surgery was the only treatment for these lesions. Different minimally invasive therapeutic techniques have been proposed.