AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.
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Biomedical subjects
Publications and source records attributed to C Martano.
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AIMS: To evaluate the metabolic pattern of a group of pre-school small- (SGA) and appropriate-for-gestational age (AGA) pre-term very-low-birthweight (VLBW) (<1500 gr) Italian children and retrospectively verify if the growth rate in the first years of life is associated to the laboratory and anthropometric characteristics of these children. METHODS: 58 (16 SGA, 42 AGA) VLBW children, without major congenital malformations/conditions were enrolled; their anthropometric, clinical and (in 34 of them) laboratory characteristics were evaluated at pre-school age (> 2<6 years of corrected age). RESULTS: Clinical, anthropometric and laboratory characteristics at pre-school age were similar in SGA and AGA. Sixty-nine percent of SGA and 51% of AGA children showed a significant weight centile crossing (CC) at 24 months. Fasting serum glucose, insulin and insulin resistance (evaluated by the Homeostasis Model Assessment -HOMA-IR-) were higher in AGA and SGA with CC. The increment in weight standard deviation scores from birth-to-24 months was significantly associated with pre-school BMI SDS, waist, fasting insulin, and HOMA-IR values, both in unadjusted and adjusted models. In a multiple regression model, after multiple adjustments, this increment is the only significant predictor of pre-school insulin (B = 0.19; 95%CI 0.07-0.31; P = 0.006) and HOMA-IR levels (B = 0.20; 95%CI 0.08-0.32; P = 0.004) both in SGA and AGA children. CONCLUSIONS: The adverse metabolic pattern of pre-school VLBW children seems related to post-natal events (rapid weight growth) independently by their being small- or appropriate-for gestational age.
AIMS: To determine in a case-control study possible associations between the development of acute renal failure in preterm newborns and therapeutic interventions, particularly drug treatments. METHODS: The study population was 172 preterm infants of <38 weeks gestation; 71 had acute renal failure and 101 were controls closely matched for gestational age and birth weight. Maternal and neonatal information was collected for both groups through questionnaires and interviews. Routine data on renal variables were also collected. Univariate and multivariate logistic regression analyses were performed. RESULTS: Very low birthweight infants were at high risk of acute renal failure (79% of cases were <1500 g). However, the acute renal failure was transient. Mothers of infants with acute renal failure received more drugs during pregnancy and delivery (mainly antibiotics and non-steroidal anti-inflammatory drugs). Of the possible therapeutic interventions, intubation, catheterisation, and phototherapy were mainly applied to case subjects. A low Apgar score and patent ductus arteriosus were diagnosed in a greater percentage of neonates with acute renal failure. Moreover, in the first few days of life and before diagnosis of acute renal failure, case subjects received more drugs (antibiotics, non-steroidal anti-inflammatory drugs, and diuretics) and for a longer time. In the multivariate logistic analysis, medullary hyperechogenicity (odds ratio (OR) 4.491; 95% confidence interval (CI) 1.879 to 10.731) and ceftazidime administration (OR 5.082; 95% CI 1.493 to 17.297) were associated with a greater risk of acute renal failure. CONCLUSIONS: The results suggest the need for careful monitoring of very low birthweight infants and attention to drug treatments, as it is difficult to differentiate between normality and renal failure in the first few days of life.
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There is no "ideal" method of infection diseases control, but there are some different methods according to the risk degree of patient, the problems, the information accuracy and also the available resources. Some important points need to be stressed about infectious diseases control in Neonatal Intensive Care Unit:--continuous microbiological surveillance in Neonatal Intensive Care Unit is necessary, because newborns admitted are at very high risk of infection disease;--continuous microbiological data review is needed: therefore criticism and integration with other clinical and laboratory data are necessary to exclude simple colonisation;--critical analysis of data allows more rational use of antimicrobical agents to avoid the selection of multiresistant bacteric streams;--a rational analysis of laboratory data needs necessarily a strict collaboration among neonatologists, microbiologists and the Committee for infectious diseases control;--in epidemics, techniques of bacterial streams typization are needed, and methods of molecular biology (DNA and proteins analysis) are better;--this implies a collection of microbiological data, by database integrating microbiological, clinical and anamnestic data and allowing retrospective studies too.
UNLABELLED: A child with severe generalized hypotonia and respiratory insufficiency, with an unknown positive family history for Steinert's disease, is referred. We want to point out the importance of correct anamnesis and of physical examination during pregnancy to suspect and diagnose rare and incurable fetal pathologies. CASE REPORT: The child was born after caesarean section. Polyhydramnios and decreased fetal movements were noticed during pregnancy. At birth, the baby presented asphyxia (Apgar 4/6) and respiratory insufficiency: he was then intubed. He received assisted ventilation for 37 days. At the physical examination, the child appeared hypotonic, hyporeflexic, without sucking reflex, with arthrogryposis and ligament laxity. On first day, chest X-ray showed paralysis of the right hemidiaphragm. His mother presented with hypotonia of the facial muscles, lid drop, light muscular weakness, positivity to neostigmine test: we then assumed that the baby was affected by transient neonatal myasthenia gravis and neostigmine was carried on. Anyway, the general conditions of the baby didn't improve. We were able to establish diagnosis of Steinert's disease (a form of muscular dystrophy with autosomal dominant inheritance with incomplete penetrance) after some other examinations (negativity of acetylcholine receptor antibodies, elevation of creatine kinase level, myopathic pattern on electromyography). Gene DMPK alteration was documented with a molecular genetic test.
A child with neonatal pseudohypoaldosteronism is referred. The diagnosis was delayed and complicated as her parents didn't tell us that her sister had been affected by the same illness. The child was born after premature rupture of membranes at 34 weeks. At birth, her conditions were satisfactory. The general conditions of the child gradually worsened and, though she regularly ate human pastorized bank milk, she didn't gain any weight. After 13 days she appeared dehydrated with marbled dry skin and haloed eyes, hypotonic and hyporeflexic. Her suction became more and more weaker, with frequent regurgitations and vomiting. Laboratory tests pointed out hyponatremia (110 mEq/l) and hyperkalemia (6.8 mEq/l). We were able to establish diagnosis of primary pseudohypoaldosteronism measuring plasma concentrations of aldosterone (> 5000 pg/ml), 17 hydroxyprogesterone (normal) and corticosteroids (normal). The child was then supplemented with sodium chlorure. A gradual improvement of general conditions took place. We assumed that both childrens and mother were affected by a milder form of primary pseudohypoaldosteronism, characterized by an autosomal dominant way of transmission. We found high levels of aldosterone with normal levels of blood salts also in the sister and mother patient's. After the neonatal period, pseudohypoaldosteronism can be only suspected in case of positive family history.
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A "bolus dose" of aztreonam was used to treat a sample group of 46 neonates suffering from urinary tract infections caused by bacteria thought to be sensitive to aztreonam. This treatment proved efficacious in approximately 80% of cases.
Serum prealbumin levels were determined in a sample of newborns suffering from infectious diseases of bacterial origin. The diagnostic and prognostic significance was assessed.
Serum prealbumin standards for the first and sixth days of life have been determined by immunoprecipitation ascertained with kinetic nephelometry in two samples of healthy newborns, born at term and of normal weight.
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