Search results for "Infant"
showing 10 items of 3339 documents
Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation
2020
Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…
Incidence and risk factors in sudden unexpected death in epilepsy: a prospective cohort study.
2001
Objective: To determine incidence of and risk factors for sudden unexpected death in epilepsy (SUDEP). Methods: Three epilepsy centers enrolled 4,578 patients and prospectively followed these patients for 16,463 patient-years. The cohort was screened for death annually. Deaths were investigated to determine whether SUDEP occurred. Potential risk factors were compared in SUDEP cases and in controls enrolled contemporaneously at the same center. Results: Incidence of SUDEP was 1.21/1,000 patient-years and was higher among women (1.45/1,000) than men (0.98/1,000). SUDEP accounted for 18% of all deaths. Occurrence of tonic-clonic seizures, treatment with more than two anticonvulsant medications…
A retrospective follow up study on maternal age and infant mortality in two Sicilian districts
2011
Abstract Background Infant mortality rate (IMR) is a key public health indicator. Maternal age is a well-known determinant of pregnancy and delivery complications and of infant morbidity and mortality. In Italy the Infant Mortality Rate was 3.7/1000 during 2005, lower than the average IMR for the European Union (4.94/1000). Sicily is the Italian region with the highest IMR, 5/1000, and neonatal mortality rate (NMR), 3.8/1000, with substantial variation among its nine districts. The present study compared a high IMR/NMR district (Messina) with a low IMR/NMR district (Palermo) during the period 2004-2006 to evaluate potential determinants of the IMRs' differences between the two districts and…
The value of the short-term fetal heart rate variation for timing the delivery of growth-retarded fetuses.
2008
OBJECTIVE: To assess the clinical value of the short-term fetal heart rate variation (STV) for timing the delivery of severely growth-retarded fetuses, many associated with pre-eclampsia. DESIGN: Retrospective cohort study. SETTING: John Radcliffe Maternity Hospital, Oxford, UK. POPULATION: Two hundred and fifty-seven fetuses with a birthweight less than third percentile and a last computerised cardiotocography performed within 24 h of delivery. METHODS: Analysis of the relationship between antepartum STV and the perinatal outcome. MAIN OUTCOME MEASURES: Stillbirth rate and the acid-base status at birth. RESULTS: There were no stillbirths or neonatal deaths (NNDs) within 24 h in the study p…
Placental metal concentrations and birth outcomes: The Environment and Childhood (INMA) project
2019
To examine the association of placental levels of arsenic (As), cadmium (Cd), mercury (Hg), lead (Pb), manganese (Mn), and chromium (Cr) with birth outcomes (birth weight, length, and head circumference, low birth weight [LBW], gestational age, preterm delivery, and small for gestational age [SGA]) in mother-child pairs from the Environment and Childhood (INMA) Project in Spain.Metal concentrations were measured in placenta tissue samples randomly selected from five INMA cohorts. Data on birth outcomes were obtained from medical records. Associations were assessed in a sub-sample of 327 mother-infant pairs by regression models adjusted for confounding factors and for all metals simultaneous…
MAGAM II – prospective observational multicentre poisons centres study on eye exposures caused by cleaning products
2019
Objective: Local effects on the eye following cleaning product exposures are frequently reported. According to EU chemicals legislation many cleaning products are labelled with Hazard Phrase 318 in...
Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome
2012
Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.
Autosomal dominant and sporadic radio-ulnar synostosis.
1997
We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene
2010
Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large quantity of fats in feces and malabsorption of fat-soluble vitamins. Intestinal biopsies showed a diffused enterocyte vacuolization with large cytosolic lipid droplets. Chylomicron retention disease or Anderson disease was hypothesized, and the Sara2 gene was analyzed by direct sequencing…
Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy
1997
There is evidence that apoptosis in spinal muscular atrophies (SMA) is not restricted to motor neurons but also affects muscle fibers. Studying the expression of several apoptosis-associated proteins we found constant expression of bax in muscle fibers, which promoted cell death. The expression of bax correlated with defective innervation of muscle fibers was also indicated by upregulation of N-CAM. While in early-onset SMA atrophic as well as normo- and hypertrophic muscle fibers displayed expression of bax, muscle fibers in late-onset SMA and peripheral neuropathies showed bax-expression only in atrophic fibers. Other investigated apoptosis-associated factors comprised interleukin-1 beta …