The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Purpose: We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.

Methods: At five participating high-birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry.

Less is More: Modern Neonatology.

Iatrogenesis is more common in neonatal intensive care units (NICUs) because the infants are vulnerable and exposed to prolonged intensive care. Sixty percent of extremely low-birth-weight infants are exposed to iatrogenesis. The risk factors for iatrogenesis in NICUs include prematurity, mechanical or non-invasive ventilation, central lines, and prolonged length of stay.

c-KIT-Positive Fatal Diffuse Cutaneous Mastocytosis With Systemic Manifestations in a Neonate.

Diffuse cutaneous mastocytosis is a rare variant of mastocytosis in the neonatal period. We describe a case of c-KIT (DV) mutation-positive fatal diffuse cutaneous mastocytosis with systemic involvement of the gastrointestinal tract and associated malabsorption and hepatosplenomegaly associated with mast cell mediator release symptoms.

Audiological Alterations in Patients With Cleft Palate.

Introduction: Chronic otitis media with effusion (OME) is a recurrent complication, usually found in cleft palate patients.Conductive hearing loss is the result of the Eustachian tube dysfunction caused by the absence of fusion and the altered insertion of the muscles of the secondary palate. It is also the consequence of an ineffective muscular reconstruction after primary cleft palate repair.

Bilateral Cleft Lip and Palate, With Facial Dysplasia: Interdisciplinary Treatment and Long-Term Follow-Up.

Bilateral complete clefts represent the result of an incomplete fusion with all the morphologic components present. It is well known that patients with bilateral cleft lip and palate have typical characteristics such as insufficient medial face development with an orthodontic class III tendency, flat nose and short columella with abnormal nasolabial angle, bilateral oronasal fistulas, alterations in the number and position of the lateral incisors, and agenesis or supernumerary teeth. Successfully solving these cases, results in a difficult challenge and studies showing extended follow-up are not frequent.

Abnormal Atrial Activation at Surface Electrocardiogram Examination in Born Underweight Young Adults.

Introduction: Recent published data demonstrated how subjects born preterm are at higher risk of developing early atrial fibrillation (AF).

Materials And Methods: The surface ECG of twenty-four adults, former preterm infants born with an extremely low birth weight (ex-ELBW; mean age at study: 23.2±3.

[Management and description of neonatal tumours in a surgical oncology unit].

Aim: Neonatal tumours represents less than 2% of all childhood cancers. The biological behaviour of this tumours will differ in older children. The tumours's biological differences and the immature physiological characteristics of newborns represent a great therapeutically challenge making newborns vulnerable.

Pregnancy as a risk factor for thyroid cancer progression.

Purpose Of Review: The current review evaluates the impact of pregnancy on women with thyroid cancer in three different clinical situations: those with newly diagnosed differentiated thyroid cancer (DTC), those under active surveillance for papillary thyroid microcarcinomas (PMCs), and those with previously treated DTC.

Recent Findings: Recent pregnancy is not associated with high-risk pathological features of DTC. In women with known PMCs under active surveillance, pregnancy does not increase the risk of disease progression.

Evaluation of the vasoactive-inotropic score, mid-regional pro-adrenomedullin and cardiac troponin I as predictors of low cardiac output syndrome in children after congenital heart disease surgery.

Objective: To determine the predictive value of the inotropic score (IS) and vasoactive-inotropic score (VIS) in low cardiac output syndrome (LCOS) in children after congenital heart disease surgery involving cardiopulmonary bypass (CPB), and to establish whether mid-regional pro-adrenomedullin (MR-proADM) and cardiac troponin I (cTn-I), associated to the IS and VIS scores, increases the predictive capacity in LCOS.

Design: A prospective observational study was carried out.

Setting: A Paediatric Intensive Care Unit.

The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.

Study Design: Cross-sectional study.

Objective: To determine the prevalence of KFS in asymptomatic patients in New York State.

Summary Of Background Data: Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion.

Mitochondrial lineage A2ah found in a pre-Hispanic individual from the Andean region.

Objectives: The aim of this study was to contribute to the knowledge of pre-Hispanic Andean mitochondrial diversity by analyzing an individual from the archaeological site Pukara de La Cueva (North-western Argentina). The date of the discovery context (540 ± 60 BP) corresponds to the Regional Developments II period.

Methods: Two separate DNA extractions were performed from dentin powder of one tooth.

Incidence and outcomes of neonatal acute kidney injury (AWAKEN): a multicentre, multinational, observational cohort study.

Background: Single-center studies suggest that neonatal acute kidney injury (AKI) is associated with poor outcomes. However, inferences regarding the association between AKI, mortality, and hospital length of stay are limited due to the small sample size of those studies. In order to determine whether neonatal AKI is independently associated with increased mortality and longer hospital stay, we analyzed the Assessment of Worldwide Acute Kidney Epidemiology in Neonates (AWAKEN) database.

Extravasation of total parenteral nutrition into the liver from an upper extremity peripherally inserted central venous catheter.

Peripherally inserted central catheters (PICC) are the mainstay of central venous access in preterm infants, and one of the common procedures performed in neonatal intensive care unit (NICU). Complications of PICC include infection, mechanical dysfunction, thrombosis, migration, and extravasation of the infusate. In this report, we describe a case of PICC inserted from an upper extremity with migration into the inferior vena cava (IVC) and the hepatic vein associated with extravasation of the total parenteral nutrition (TPN) into the peritoneum and the liver.

A Table Mounted Cardiopulmonary Bypass System for Pediatric Cardiac Surgery.

Systemic inflammatory response and hemodilution are prominent factors associated with cardiopulmonary bypass and result in increased morbidity and mortality in children. Miniaturized systems have evolved to decrease such effects and restrict use of blood products, especially in the neonatal population. We have developed a table mounted cardiopulmonary bypass system that allows closer proximity of the system to the patient with consequent decrease in priming volumes, hemodilution, and its associated effects, and contributes to development into an ideally bloodless surgical approach.

Association Between Early Caffeine Citrate Administration and Risk of Acute Kidney Injury in Preterm Neonates: Results From the AWAKEN Study.

Importance: Acute kidney injury (AKI) occurs commonly in preterm neonates and is associated with increased morbidity and mortality.

Objectives: To examine the association between caffeine citrate administration and AKI in preterm neonates in the first 7 days after birth and to test the hypothesis that caffeine administration would be associated with reduced incidence and severity of AKI.

Design, Setting, And Participants: This study was a secondary analysis of the Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) study, a retrospective observational cohort that enrolled neonates born from January 1 to March 31, 2014.

Rising Clinical Burden of Psychiatric Visits on the Pediatric Emergency Department.

Objective: The mental health epidemic in pediatrics has resulted in a growing clinical burden on the health care system, including pediatric emergency departments (PED). Our objective was to describe the changing characteristics of visits to an urban PED, in particular length of stay, for emergency psychiatric evaluations (EPEs) over a 10-year period.

Methods: A retrospective study of children with an EPE in the PED at a large urban quaternary care children's hospital was performed during two discrete periods a decade apart: July 1, 2003-June 30, 2004 (period 1) and July 1, 2013-June 30, 2014 (period 2).

Efficacy of Paracetamol in Closure of Ductus Arteriosus in Infants under 32 Weeks of Gestation.

Background: Standard medical treatment for patent ductus arteriosus (PDA) closure has been indomethacin/ibuprofen or surgical ligation. Up to date, new strategies have been reported with paracetamol. The aim of this study was to present our experience with intravenous paracetamol for closing PDA in preterm neonates presenting contraindication to ibuprofen or ibuprofen had failed and no candidates for surgical ligation because of huge instability.

High Prevalence of Extensively Drug-resistant Acinetobacter baumannii at a Children Hospital in Bolivia.

Acinetobacter baumannii causes serious hospital-acquired infections and has been positioned as a priority organism by the World Health Organization. This study includes 36 A. baumannii isolates from a children hospital recovered between March 2014 and May 2015 in Cochabamba.

Factors associated with late fetal mortality.

Purpose: Perinatal mortality has been decreasing in Europe thanks to a reduction in neonatal mortality. The causes of fetal mortality remain poorly studied. The objective was to determine the late fetal mortality rate in Spain in 2015 and the associated factors.

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Background: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children.

Seronegative Myasthenia Gravis, as a Rare Autoimmune Condition in Turner Syndrome.

Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX.

ASQ-3: Validation of the Ages and Stages Questionnaire for the detection of neurodevelopmental disorders in Argentine children.

Introduction: The systematic assessment of child development in the first years of life is an essential component of pediatric health checkups. The Ages and Stages Questionnaire, third edition (ASQ-3) is the most validated scale, and has been recommended by the UNICEF to verify if children have a normal neurological development. It is a monitoring instrument to assess the main developmental areas, including communication, gross motor, fine motor, personal-social, and problem solving skills, and to compare the local population to the international development standards.

Immune-Mediated Mechanisms of Action of Probiotics and Synbiotics in Treating Pediatric Intestinal Diseases.

The pediatric population is continually at risk of developing infectious and inflammatory diseases. The treatment for infections, particularly gastrointestinal conditions, focuses on oral or intravenous rehydration, nutritional support and, in certain case, antibiotics. Over the past decade, the probiotics and synbiotics administration for the prevention and treatment of different acute and chronic infectious diseases has dramatically increased.

Birth plan compliance and its relation to maternal and neonatal outcomes.

Objective: to know the degree of fulfillment of the requests that women reflect in their birth plans and to determine their influence on the main obstetric and neonatal outcomes.

Method: retrospective, descriptive and analytical study with 178 women with birth plans in third-level hospital. Inclusion criteria: low risk gestation, cephalic presentation, single childbirth, delivered at term.