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Biomedical subjects

M Mazzella

Publications and source records attributed to M Mazzella.

18 recordsLinked to original sources
PubMed2005

Diagnostic protocol for lymphoscintigraphy in newborns.

The purpose of this methods paper is to offer pediatricians and nuclear medicine physicians a diagnostic protocol for performing lymphoscintigraphy in newborns that may be useful for enhancing diagnosis and management of newborns with congenital lymphatic abnormalities. Indications for lymphoscintigraphy, choice of tracer, optimal dose, routes of administration, methods of data acquisition, timing, and interpretation of results for newborns are presented and discussed.

Diagnosis, Differential↗
PubMed2004

Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum.

We report on three infants with congenital chylothorax (CC) and congenital pulmonary lymphangiectasia (CPL). CPL appears to be a characteristic pathological finding in CC. Through the use of lymphoscintigraphy and computed tomography, this study suggests that CC and CPL are strongly correlated entities and that the dysplasia of the lymphatic system results in a pulmonary lymphatic obstruction sequence. The initial microscopic dilatation of the lymph channels may lead to progressive weeping of lymphatics and, consequently, to pleural effusion. Non-Immune Hydrops Fetalis (NIHF) may be the final consequence of impaired systemic venous return and may help to explain pleural-pulmonary involvement in this generalized lymph-vessel malformation syndrome.

Abnormalities, Multiple↗
PubMed2002

Permanent diabetes mellitus in the first year of life.

AIMS/HYPOTHESIS: The pathogenesis of permanent diabetes mellitus diagnosed early in life is heterogeneous and, in most cases, not known. We aimed at identifying markers differentiating between non-autoimmune and autoimmune diabetes. METHODS: The clinical, genetic and epidemiological features of 111 diabetic patients (62 males) who received insulin within 12 months of life were studied. RESULTS: The epidemic curve by age of diabetes onset revealed two subsets of patients at a cutoff of 180 days. In the group with diabetes onset before 180 days ("early onset" permanent diabetes) the analysis of HLA susceptibility heterodimers (available for 21 individuals) showed that 76% had a "protective" HLA genotype for Type I (insulin-dependent) diabetes mellitus as compared to 11.9% (5/42) of the later onset group. Accordingly, "early onset" children were less likely to have autoimmunity markers (4 out of 26 tested) than children with onset after 180 days (13 out 20 tested) (15.4% vs. 65.0%, p<0.01). Of note, 19 out of 20 (or the 95%) patients who were born on the island of Sardinia, an Italian region where the incidence of Type I diabetes is six times higher than continental Italy (33/100,000/year vs 5/100,000/year), were included in the later onset group (>180 days). Small-for-date birthweight, a possible sign of reduced foetal insulin secretion, was more common in the "early onset" group (OR=9.9, 95%-CI 2.6-38.6). CONCLUSION/INTERPRETATION: These results, obtained in the largest population-based cohort of diabetic infants hitherto reported, suggest that "early onset" permanent diabetes cases differ from later onset cases and that most of them do not have an autoimmune pathogenesis.

Age of Onset↗
PubMed2002

7-ketocholesterol in human and adapted milk formulas.

In the last few years, a variety of experimental and clinical studies concerning the formation, metabolism, and cellular effects of cholesterol oxidation products (COPs) have been carried out. Nevertheless, a substantial lack of knowledge exists regarding the possible intake of these compounds by the newborn through human and/or adapted formula milk. As far as the pathological role of COPs is concerned, exhaustive studies have shown that since dietary COPs are cytotoxic and atherotoxic, they may lead to adverse effects on health. The aim of this study was to investigate the possible development of cholesterol oxidation in adapted formula and in human milk by comparing the main cholesterol oxidation biomarker (7-ketocholesterol) concentration in both. To do so, the total (bonded and free) 7-ketocholesterol content was measured in ten fresh human mature milk samples and in ten milk adapted formula samples by high performance liquid chromatography and diode array detection. The 7-ketocholesterol human milk content (0.7+/-0.3) was often below the quantifiable limit (0.5 microg/g of extracted lipids) while 7-ketocholesterol adapted milk concentrations were often above (3.6+/-4.0) this limit. The 7-ketocholesterol content of adapted formula samples was significantly higher as compared to human milk samples (P<0.05). This is the first study to provide data concerning the concentrations of cholesterol oxides in human milk and in formula milk. Our results clearly suggest that the manufacturing technologies employed and the nutrient extractive sources play a crucial role in the development of cholesterol oxides in the end product. Careful surveillance has to be paid in order to avoid alteration of bioactive properties of nutrients and/or development of potentially toxic derivative compounds.

Cholesterol↗
PubMed2001

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.

We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.

Abnormalities, Multiple↗
PubMed2001

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

Amino Acid Sequence↗
PubMed2001

A randomised control study comparing the Infant Flow Driver with nasal continuous positive airway pressure in preterm infants.

OBJECTIVE: To compare the effectiveness of the Infant Flow Driver (IFD) with single prong nasal continuous positive airway pressure (nCPAP) in preterm neonates affected by respiratory distress syndrome. DESIGN: Randomised controlled study. PATIENTS: Between September 1997 and March 1999, 36 preterm infants who were eligible for CPAP treatment were randomly selected for either nCPAP or IFD and studied prospectively for changes in oxygen requirement and/or respiratory rate. The requirement for mechanical ventilation, complications of treatment, and effects on mid-term outcome were also evaluated. RESULTS: Use of the IFD had a significantly beneficial effect on both oxygen requirement and respiratory rate (p < 0.0001) when compared with nCPAP. Moreover, O(2) requirement and respiratory rate were significantly decreased by four hours (p < 0.001 and p < 0.03 respectively). The probability of remaining supplementary oxygen free over the first 48 hours of treatment was significantly higher in patients treated with the IFD than with nCPAP (p < 0.02). IFD treated patients had a higher success (weaning) rate (94% v 72 %) and shorter duration of treatment (49.3 (31) v 56 (29.7) hours respectively; mean (SD)), although the difference was not significant. CONCLUSIONS: IFD appears to be a feasible device for managing respiratory distress syndrome in preterm infants, and benefits may be had with regard to oxygen requirement and respiratory rate when compared with nCPAP. The trend towards reduced requirement for mechanical ventilation, shorter clinical recovery time, and shorter duration of treatment requires further evaluation in a multicentre randomised clinical trial.

Female↗
PubMed2000

[2,3 diphosphoglycerate in preterm newborns].

BACKGROUND: It has been largely shown that during the first month of life, in the preterm neonate Hb levels and Hct percentages rapidly decrease, high HbF concentration persists and a high oxygen affinity occurs. Data are needed to establish the level at which 2,3 dyphosphoglycerate (2,3 DPG) interacts with the regulation of oxygen affinity. SUBJECTS AND METHODS: 24 samples, from eight uncomplicated preterm newborns (34.1 +/- 1.83 GW, 1869 +/- +/- 291 BW) obtained at the same time as those required for the clinical management of the infants, were collected on the 2nd, 7th and 14th day of life. Blood gases, total hemoglobin and hematocrit were obtained from 0.3 ml arterialised capillary blood. Assays of 2,3 DPG were made separately on 0.4 ml venous blood. RESULTS: As expected tHb concentration and Hct percentages significantly decreased from day 2 to day 14 in all eight cases. On the contrary 2,3 DPG and p50 values remained stable. Subsequently throughout the study period all neonates had an increased 2,3 DPG/Hb ratio that was significantly related with p50 at standard conditions (p < 0.05). CONCLUSIONS: Stable 2,3 DPG concentrations during all study period have been detected. The subsequent significant increased 2.3 DPG/Hb, ratio related to increased p50 values, could have a key role in a physiological mechanism aimed to ensure adequate oxygen delivery to the tissues and to counteract the higher oxygen affinity of fetal hemoglobin. A wider sample is needed to validate this hypothesis.

2,3-Diphosphoglycerate↗
PubMed2000

[Proposal for computer-assisted preparation of parenteral nutrition solutions in neonatal intensive care].

A computer software package was developed to perform the calculation involved in compounding total and partial parenteral nutrition for low-birth-weight and sick newborns. The program requires a minimum of user input and is menu-driven. The flexibility of the algorithm has been increased to a considerable degree. The program calculates the overall balance of fluids, nutrients, calories, electrolytes and minerals. It allows for the possibility of total parenteral nutrition and simultaneous oral feeding. Nutrient amounts per Kg per day and combination of enteral food and parenteral infusions can be completely changed by the operator. In our experience computer-assisted system was more efficient than a manual system and the possibility of computational error was reduced.

Humans↗
PubMed1997

Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure.

We report a newborn admitted to our service on the 2nd day of life because of hypotonia and metabolic acidosis. A progressive hepatocellular dysfunction dominated the clinical picture and the patient died at 13 months of age because of severe hepatic failure. Persistent lactic acidosis, high ketone bodies levels and high-normal lactate/pyruvate and 3-hydroxybutyrate/acetoacetate molar ratios in plasma were found. Investigation of a liver biopsy revealed low activities of all the mitochondrial respiratory chain enzymes but in particular a marked decrease of complex I (NADH cytochrome c reductase) activity. All respiratory chain enzyme activities were normal in cultured skin fibroblasts. Mitochondrial DNA analysis failed to detect any major rearrangements. Although only a few cases have been reported so far, it is becoming clear that liver should be considered as one of the organs involved in oxidative phosphorylation disorders. The finding of unexplained progressive liver failure with poor neurological conditions, lactic acidaemia and ketonuria strongly warrants investigation for a respiratory chain disorder. Moreover, the finding of normal respiratory enzyme activities in a tissue other than liver does not rule out the existence of an oxidative phosphorylation disorder in patients with hepatocellular disease of unexplained origin.

Acidosis, Lactic↗
PubMed1995

[Insulin edema in three adolescents with insulin-dependent diabetes mellitus].

Three female patients with a previously poorly controlled Insulin Dependent Diabetes Mellitus (IDDM), without evidence of cardiovascular, hepatic or renal dysfunction, developed generalized edema after a substantial increase in their insulin dosage. Edema resolved in 2-3 weeks, without specific therapy. Our patient's findings met the criteria of diagnosis of insulin edema. Insulin edema during IDDM is an uncommon complication of insulin therapy (1/400) and its pathogenesis is not clarified so far; it is a transient and self-limiting condition. The diagnosis is based on exclusion of all other major causes of edema.

Adolescent↗
PubMed1994

Incidence of type I diabetes in the Liguria Region, Italy. Results of a prospective study in a 0- to 14-year age-group.

OBJECTIVE: To assess updated incidence of insulin-dependent diabetes mellitus (IDDM) in 0- to 14-year-old children in Liguria, a northwest region of Italy. RESEARCH DESIGN AND METHODS: Incident cases were recorded prospectively from 1987 to 1991. Incidence rates (IRs) were directly standardized on the basis of the 1990 world population. The independent effect of age, sex, residence, and calendar year was estimated with a Poisson regression model. The degree of ascertainment was calculated in accordance with the capture/recapture method. RESULTS: During 5 full calendar years, 117 new cases of IDDM in children were diagnosed in Liguria. The standardized IR over the 5-year period was 11.72 cases.100,000(-1).year-1. The sex-specific IR among males and females was 11.45 and 12.01, respectively. The age-specific IR was higher in the 5-9 age-group. CONCLUSIONS: The IR of IDDM in Liguria is among the highest in southern Europe and approaches that of northern European countries. In particular, it is much higher than those reported in the surrounding Italian regions, except for Sardinia. Therefore, the geographical distribution of IDDM does not seem to reflect the simple north-south gradient reported in several previous studies.

Adolescent↗