Search results for "Perinatology"

Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.

2018

Abstract Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some un…

Characteristics of neonatal herpes simplex virus infections in Germany: results of a 2-year prospective nationwide surveillance study.

2021

ObjectiveTo assess incidence and burden of neonatal herpes simplex virus (HSV) infections and to explore possible transmission routes.MethodsA 2-year prospective nationwide surveillance study performed in 2017 and 2018. All German paediatric departments (n=464 in 2017, n=441 in 2018) were contacted on a monthly basis to report potential cases of neonatal HSV infections. Infants with a postnatal age of ≤60 days and a positive HSV PCR or HSV culture from skin, mucous membrane, vesicles or conjunctival smear, blood or cerebrospinal fluid were included in the study.Results37 cases were analysed. 29 patients who exhibited no or only mild clinical symptoms were discharged home without organ damag…

Family meal participation is associated with dietary intake among 12-month-olds in Southern Norway

2021

Abstract Background Family meal participation is associated with healthier eating among children and adolescents. Less is known about family meal participation among infants and toddlers. The objective of the present study was to explore whether family meal participation at 12 months of age is associated with dietary intake and whether a potential relationship differs according to maternal education or child sex. Methods Follow-up data from children born to mothers participating in the Norwegian Fit for Delivery (NFFD) trial during pregnancy were used to assess the frequency of intake of 11 dietary items according to frequency of participating in the respective family meals. Dietary differe…

Malignant ovarian germ cell tumors in pediatric patients: The AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) study.

2017

Objective Malignant ovarian germ cell tumors (MOGCT) carry an excellent prognosis, and the treatment aims to achieve results with the least possible treatment-related morbidity. The aim of this study was to assess the outcomes of pediatric patients with MOGCT. Methods Patients were treated according to their stage: surgery and surveillance for stage I; a modified bleomycin–etoposide–cisplatin (BEP) regimen for stages II (three cycles), III, and IV (three cycles) with surgery on residual disease. Results Seventy-seven patients were enrolled (median age 11.8 years), 26 with dysgerminoma (Dysg), 13 with immature teratoma and elevated serum alpha-fetoprotein levels (IT + AFP), and 38 with nondy…

Immunogenicity and Safety of Primary and Booster Vaccinations of a Fully Liquid DTaP-IPV-HB-PRP-T Hexavalent Vaccine in Healthy Infants and Toddlers …

2018

To support a fully liquid, diphtheria (D)-tetanus (T)-acellular pertussis (aP)-inactivated poliovirus (IPV)-hepatitis B (HB)-Haemophilus influenzae b (PRP-T) vaccine in Europe using a 2, 3, 4 month primary series and a booster at 11-15 months of age. Phase III, randomized, observer-blind studies in Germany and the Czech Republic. Participants who had not received HB vaccine were randomized to a 2, 3, 4 month primary series of DTaP-IPV-HB-PRP-T (group 1; N = 266) or a reconstituted DTaP-HB-IPV//PRP-T comparator (group 2; N = 263) and a booster of the same vaccine. Pneumococcal vaccine (PCV13) and rotavirus vaccine were coadministered at 2, 3, 4 months, and the booster was coadministered with…

Anthropometric Assessment of Nepali Children Institutionalized in Orphanages

2020

Nepal is among the world&rsquo

Development and description of New Nordic Diet scores across infancy and childhood in the Norwegian Mother, Father and Child Cohort Study (MoBa)

2021

Abstract In recent years, examining dietary patterns has become a more common way of investigating potential associations between diet and adverse health outcomes. The New Nordic Diet (NND) is a potentially healthy and sustainable dietary pattern characterized by foods that are locally available and traditionally consumed in the Nordic countries. The diet has been typically examined in adult populations, and less is known about compliance to the NND from infancy throughout childhood. In the current study, we therefore aimed to develop and describe child age‐specific NND scores. This study is based on the Norwegian Mother, Father and Child Cohort Study (MoBa) and uses data from the Medical B…

Cytoplasmic body myopathy revisited.

2018

Association between trans fatty acid intake and overweight including obesity in 4 to 5-year-old children from the INMA study

2019

Background: Trans fatty acid (TFA) intake has been positively associated with obesity in adults, although the evidence in children is scarce. There is growing evidence that TFA of industrial or natural origin may have different effects. Objectives: We aimed to explore the association between total, industrial, and natural TFA intake and overweight including obesity in 4 to 5-year-old Spanish children. Methods: We cross-sectionally analyzed data of 1744 children aged 4 to 5 from the INMA study, a prospective mother-child cohort study in Spain. We estimated the intake of total, industrial, and natural TFA in grams per day (g/day) using a validated food frequency questionnaire and expressed it…

Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features

2016

Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…