Search results for "pediatric"
showing 10 items of 4528 documents
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…
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
2016
International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …
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…
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
2020
Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biop…
Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient.
2017
Thiamine (vitamin B1) deficiency is a common condition in alcohol abusers, which can lead to damage of both the peripheral and the central nervous systems. Here we describe the case of an alcoholic patient who presented with acute onset of ataxia, severe weakness of the four limbs, and hypoesthesia and dysesthesia of the distal portion of the upper and lower extremities. The clinical picture also included mental confusion and amnesia. A diagnosis of Wernicke-Korsakoff syndrome was made based on clinical symptoms and brain RMI findings. Electromyography and electroneurography revealed signs of subacute axonal sensory-motor polyneuropathy that were compatible with a rare acute presentation of…
miRNomic Signature in Very Low Birth-Weight Neonates Discriminates Late-Onset Gram-Positive Sepsis from Controls
2021
Background and Objectives. Neonatal sepsis is a serious condition with a high rate of mortality and morbidity. Currently, the gold standard for sepsis diagnosis is a positive blood culture, which takes 48–72 h to yield results. We hypothesized that identifying differentially expressed miRNA pattern in neonates with late-onset Gram-positive sepsis would help with an earlier diagnosis and therapy. Methods. This is a prospective observational study in newborn infants with late-onset Gram positive bacterial sepsis and non-septic controls. Complementary to blood culture, an aliquot of 0.5 mL of blood was used to determine small non-coding RNA expression profiling using the GeneChip miRNA 4.0 Arr…
Evidence of increased circulation of Bordetella pertussis in the Italian adult population from seroprevalence data (2012–2013)
2016
Incidence data on pertussis cases in Italy do not show pertussis resurgence as recently described in other European countries. The aim of this study was to determine the seroprevalence of IgG antibodies to pertussis toxin (PT-IgG) in selected adult age groups, who can serve as a reservoir of Bordetella pertussis and be responsible for onward transmission to vulnerable infants. The seroprevalence of PT-IgG was studied in sera collected in 2012-2013 in three age groups: 20-29 years and 30-39 years (reproductive age), and ≥60 years. These data were compared to those from sera collected in similar age groups in 1996-1997. More than 80 % of the adult population analysed in the 2012-2013 group pr…
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…
Virología: diagnóstico sindrómico de meningitis y encefalitis
2020
Viral infections of the nervous system represent a major health problem. It is estimated that the incidence of viral meningitis in the general population ranges from 5-17 cases per 100,000 inhabitants per year in developed countries. This heading encompasses highly varied clinical pictures, ranging from meningitis to encephalitis. This article presents the agents involved in our environment and discusses their expressiveness. In immunocompetent patients, the course of these infections is usually benign. Nucleic acid amplification techniques are the gold standard for their etiological diagnosis. The introduction of polymerase chain reaction and serological diagnosis of the main arboviruses h…
Myocarditis in Mediterranean spotted fever: a case report and a review of the literature
2016
Introduction: Mediterranean spotted fever (MSF) is a tick-borne acute febrile disease caused by Rickettsia conorii. Most cases follow a benign course, with a case fatality rate of 3–7 % among hospitalized patients. Complications are described mainly in adult patients and include hepatic, renal, neurological and cardiac impairment. Among cardiac complications, pericarditis, myocarditis and heart rhythm disorders are uncommon complications in MSF and only a few cases have been reported in the literature. Case Presentation: We describe a new case of acute myocarditis complicating MSF in an immunocompetent adult patient without risk factors for severe MSF. Conclusion: Myocarditis is an uncommon…