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Biomedical subjects

M Liguori

Publications and source records attributed to M Liguori.

At least 37 records · Page 2Linked to original sources
PubMed1999

[Cystic adenomatoid malformation of the lung at the fetal stage. Ultrasonographic diagnosis and counseling].

BACKGROUND: The aim of this study was to report the series of cystic malformation of the lung (CAML) detected at the Center for Prenatal Diagnosis of the University of Naples Federico II and compare the data with the current literature. METHODS: In the period 1994-1997, ten cases of CAML have been detected at our unit. For each case, the following parameters were recorded: size of the cysts (according to the Stocker classification), side, presence of mediastinal shift, hydrops. For confirmation, necropsies and post natal files were sought. RESULTS: CAML was type I in 3 cases, type II in 3, and type III in 4 cases. mediastinal shift was present in 7 cases, hydrops in 2 and bilateral renal agenesis in 1. Seven cases underwent termination of pregnancy, 2 are currently alive and thriving after surgery and one pregnancy is ongoing at 36 weeks of gestation. The diagnosis was straightforward in all cases, and there were no problems of differential diagnosis. CONCLUSIONS: From an analysis of the data published in recent literature, it can be affirmed that hydrops but not mediastinal shift have negative prognostic significance. The abortion rate of 70% in our series, including 4 cases with a good prognosis, is somewhat frustrating. This figure underlines the need for a multidisciplinary counseling in which the pediatric surgeon, the psychologist and the sonographer may support the couple in overcoming the stress related to the acknowledgement of the lesion in order to reach the final decision about the outcome of the pregnancy.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis and hemodynamic evaluation of Klippel-Trenaunay-Weber syndrome.

Klippel-Trenaunay-Weber syndrome is a rare congenital soft-tissue anomaly which is characterized by the presence of multiple hemangiomata, arteriovenous fistulas and limb hypertrophy. We report the ultrasound findings in two cases of early prenatal diagnosis at 17 and 18 weeks of gestation. The pathogenesis of the syndrome and involvement of the cardiovascular system are discussed.

Adult↗
PubMed1998

[Insulin resistance. Receptor and post-receptor abnormalities].

Insulin action starts with binding to a membrane receptor (insulin receptor-tyrosine kinase) and with activating an insulin receptor substrate 1 (IRS-1) and substrate 2 (IRS-2). Insulin receptors interact at least with three cascade reactions, phosphorylating G proteins and IRS-1, that activate PLC "ras" and PI-3-K. NIDDM can be defined as a disease caused by defective transduction of insulin signals and IR as a complex phenotype manifesting itself, emphasized by individual and environmental factors, in the cellular systems of signal transduction. IRS is a syndrome characterized by NIDDM, hypertension, visceral obesity, CHD: the X syndrome. Up to day the described mutations of the insulin-receptor gene are rare (e.g. the leprechaunism): genetic IR. Obesity is the principal cause of IR by receptorial and post-receptorial defects: metabolic IR. The obese skeletal muscle shows a reduction of insulin receptor and IRS-1 phosphorylation and of PI-3-K activation; the scarce expression of these proteins would determine the muscular IR. IR is a pattern of essential hypertension. Hypertension, dyslipidemia and abnormality of glucose metabolism are linked by IR. The so called high erythrocyte Na(+)-Li+ counter-transport is a new biochemical marker for IR and hypertension. These drugs can reduce IR: metformin, sulphonilureas, fibrats, dexfenfluramine, troglitazone, doxazosin, ACE-inhibitors.

Diabetes Mellitus, Type 2↗
PubMed1997

Different entities of proximal spinal muscular atrophy within one family.

The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA. Three patients in two generations show homozygous deletions of exons 7 and 8 of the telomeric copy of SMN (telSMN), thus confirming the presence of autosomal recessive SMA, with localisation on chromosome 5q12. The fourth SMA patient with mild neurogenic atrophy (confirmed by muscle biopsy and electromyography) shows no homozygous deletion of telSMN but carries a heterozygous deletion of telSMN, as can be deduced from her two affected homozygously deleted children. No intragenic mutation has been identified in the remaining telSMN. In addition, she shares only one SMA chromosome with her affected brother, is haploidentical with two healthy brothers, and has a 31-year-old healthy son, who has inherited an SMN-deleted paternal chromosome and the SMN non-deleted maternal chromosome. These results suggest that this patient either has a neurogenic atrophy of a different origin or exhibits an unusual heterozygous manifestation of SMA 5q12. Interestingly, the two haploidentical telSMN-deleted affected sibs in the second generation show a strikingly discordant clinical picture indicating that, in addition to telSMN mutations, other factors influence the phenotype of SMA in the reported pedigree.

Adult↗
PubMed1997

Multiple sclerosis in childhood: clinical features of 149 cases.

From the retrospective study of 3375 patients affected by clinically definite or probable multiple sclerosis (MS), 149 patients were collected with onset of the disease before the age of 16 years (4.4%). Female/male ratio was higher than that of the adult onset MS (AOMS) population (2.2 vs 1.6) particularly at ages of onset after 12 years (3.0, P = 0.007 vs AOMS). Among initial symptoms, those suggesting brainstem dysfunction (25%) were more frequent compared to other systems and compared to AOMs symptoms; motor and sensory disturbances were slightly less frequent (respectively 17.5% and 18.3%). Optic neuritis appeared in 16.5% of cases with onset in childhood and in 16.2% of cases with AOMS, cerebellar disturbances respectively in 9.1% and 7.7%. The first interattack-interval and the clinical course of early onset MS did not differ significantly from AOMS. In early onset MS patients with disease duration < 8 years, cases with EDSS > 6 were slightly more frequent than in the AOMS group (P = 0.04). The frequency of cases for different levels of disability was similar for disease duration > 8 years.

Adolescent↗
PubMed1996

Prognostic significance of metabolic changes detected by proton magnetic resonance spectroscopy in ischaemic stroke.

Proton magnetic resonance spectroscopy has proved to be useful for monitoring a number of metabolites in cerebral infarction. Combined magnetic resonance imaging and spectroscopy investigations were carried out in 14 patients with a recent ischaemic stroke (< 1 week); follow-up examinations were performed from day 28 to day 252 after stroke. The aim of this study was to assess the correlation between the changes of N-acetyl-aspartate, choline, creatine-phosphocreatine, lactate and clinical evolution measured by the Scandinavian Neurological Scale (SNS). Initially the lactate magnetic resonance signal was present in all patients and the other metabolite contents were significantly reduced (P < 0.001; unpaired t-test) as compared with those on the contralateral side. Spearman's rank correlation test showed a positive correlation between the initial reduction of N-acetyl-aspartate content and the SNS (P < 0.05), and between the final N-acetyl-aspartate content and the SNS (P < 0.001). Our results suggest that serial examination in stroke patients may provide further prognostic information and encourage controlled clinical studies.

Adult↗
PubMed1996

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?

Myotonic dystrophy (DM) is associated with an expansion of an unstable (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene on chromosome 19q13.3. We studied six patients from two families who showed no expansions of the repeat, in spite of their clinical diagnosis of DM. These patients had multi-systemic manifestations that were distinguishable from those seen in other myotonic disorders, including proximal myotonic myopathy (PROMM). In one additional family, two symptomatic members showed no expanded (CTG)n repeats, while their affected relatives had the expanded repeats. DM haplotype analysis failed to exclude the DMPK locus as a possible site of mutation in each family; however, DMPK mRNA levels were normal. We conclude that a mutation(s) other than the expanded (CTG)n repeat can cause the DM phenotype. The mutation(s) in these families remain(s) to be mapped and characterized.

Adolescent↗
PubMed1996

High resolution proton MR spectroscopy of cerebrospinal fluid in MS patients. Comparison with biochemical changes in demyelinating plaques.

Proton magnetic spectroscopy (1H-MRS) investigation was performed on CSF samples of patients with neurological inflammatory diseases including 52 cases of multiple sclerosis (MS). 12 acute idiopathic polyneuropathies, 20 acute meningitides (10 viral and 10 bacterial). Spectra were compared with those acquired in 18 neurological controls. High CSF lactate levels were found in MS patients during clinical exacerbation of relapsing-remitting course (p = 0.036 vs neurological controls). In MS patients with MRI evidence of Gd-enhanced plaques CSF lactate was higher than in patients with MRI inactive plaques (p = 0.017). CSF lactate positivity correlated with number of CSF mononuclear cells in MS patients with clinical activity (p = 0.05) as well as in MS patients with MRI enhancement (p = 0.003). A comparative 1H-MRS investigation in vivo on localized demyelinating areas confirmed an elevated lactate signal in Gd-enhanced (61%) more frequently than in unenhanced (22%) plaques (p = 0.03). MS patients with high lactate signal in active plaques showed high lactate levels in CSF. Increased CSF lactate was found also in patients with acute meningitis and idiopathic polyneuropathy. These data suggest that changes in lactate levels may depend on anaerobic glycolytic metabolism in activated leukocytes during inflammatory diseases. A decrease of CSF formulate levels was found in MS patients during active and inactive clinical phase (p = 0.037, p=0.05 vs neurological controls respectively). Formate changes might be related to a disorder of choline-glycine cycle in MS. 1H-MRS in vivo showed significant increase of choline in acute plaques, whereas a decrease of N-acetyl aspartate was found in chronic plaques; these metabolites are undetectable in CSF. CSF glucose levels were lower in bacterial than in viral meningitis (p = 0.014) and in neurological controls (p = 0.05). These observations suggest that 1H-MRS may be able to detect CSF metabolic impairment in neurological inflammatory diseases. In MS some CSF findings reflect metabolic changes occurring in brain demyelinating areas, and they could be useful foe evaluation of disease activity in different stages of disease evolution.

Adolescent↗
PubMed1995

NAD+/NADP+-dependent malic enzyme: evidence of a NADP+ preferring activity in human skeletal muscle.

The L-malate NAD(P)+ oxidoreductase (decarboxylating) E.C.1.1.1.39 was purified from human skeletal muscle; the specific activity estimated in the presence of NAPD+ as coenzyme was approximately 15 mumol/min/mg. The apparent Vmax values for NAD+ (approximately 8 mumol/min/mg) and NADP+ (approximately 16 mumol/min/mg) show that the enzyme (in this tissue) is more active in the presence of NAPD+. This observation was confirmed by the estimation of enzymatic activity in competition experiments where both NAD+ and NADP+ were used together as coenzymes. The absence of pyruvate carboxylation and of oxalacetate decarboxylation activities demonstrates that the enzyme studied is E.C.1.1.1.39. In addition, the apparent Km values for NAD+ and NADP+ were calculated (15 and 0.05 mM, respectively). This paper provides the first demonstration of a NADP+ preferring activity of the enzyme in human skeletal muscle.

Carboxy-Lyases↗
PubMed1994

Proton magnetic resonance spectroscopy in patients with ischemic stroke.

Proton magnetic resonance spectroscopy (1H-MRS) is a non-invasive technique which has proved to be useful for monitoring various brain metabolites (N-acetyl-aspartate, choline, creatine-phosphocreatine, lactate). A total of 18 patients underwent a combined magnetic resonance imaging (MRI)/1H-MRS protocol in order to evaluate the distribution of the metabolites in the various stages of cerebral ischemia. Our results show a marked decrease of N-acetyl-aspartate and a large content of Lactate during the early phases, and a decrease in N-acetyl-aspartate, choline and creatine-phosphocreatine (Cr-PCr) during the chronic phase.

Adult↗
PubMed1994

[The utilization of dry chemistry methods in a campaign to identify risk factor of cardiovascular diseases].

Dry chemistry methods on a Kodak Ektachem DT 60 instrument have been evaluated during a large scale (60,000 employees of the Italian Telephone Company) screening for the prevalence of cardiovascular risk factors. Comparison between dry chemistry methods on serum samples and liquid phase methods on the same samples yielded the following correlation coefficients: .991 (n = 100) for total cholesterol, .962 (n = 50) for high density lipoprotein (HDL) cholesterol, .987 (n = 100) for triglycerides, .997 (n = 50) for glucose, and .991 (n = 50) for uric acid. A 12% overestimation of serum triglycerides was observed with dry chemistry methods as compared to liquid phase methods. Accuracy and precision of these dry chemistry methods were evaluated by daily (n = 271 days) determinations of all the above parameters on each of two reference sera (low and high concentration). Dry chemistry methods average bias estimates (observed value - expected value)/expected value) x 100, measuring method's accuracy, were: 4.2% for total cholesterol, 1.2% for HDL cholesterol, 3.6% for triglycerides, 3.0% for glucose, 4.6% for uric acid. Average coefficients of variation (standard deviation/mean x 100, measuring method's precision, were: 5.0% for total cholesterol, 6.3% for HDL cholesterol, 5.9% for triglycerides, 3.6% for glucose, 7.2% for uric acid. Dry chemistry methods by Kodak Ektachem DT 60 proved highly comparable with liquid phase methods. Considering their level of accuracy and precision they can be recommended as quick and simple methods for population screenings.

Blood Glucose↗
PubMed1993

Serum and CSF anti-GM1 antibodies in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy.

High titers of antibodies directed against gangliosides, especially GM1, are found in the serum of patients with a variety of polyneuropathies, including those of the inflammatory type. We assayed anti-GM1 IgG and IgM levels in the serum and cerebrospinal fluid (CSF) of 23 patients with Guillain-Barré syndrome (GBS) and 10 with chronic inflammatory demyelinating polyneuropathy (CIDP) to investigate whether this immune response may also be localized within the intrathecal compartment and correlate with clinical parameters such as time interval since disease onset, disability score, preceding infectious episodes, and GM1 therapy. When compared to the control group, anti-GM1 IgG was increased in the serum of 39% of GBS and 10% of CIDP patients, whereas anti-GM1 IgM was elevated in 17% of GBS and none of the CIDP patients. In both patient groups, however, anti-GM1 antibody levels were more frequently elevated in CSF than paired sera: they belonged to the IgG class in 48% of GBS and 50% of CIDP patients, and to the IgM class in 48% of GBS and 55% of CIDP patients. In the GBS group, anti-GM1 IgM serum levels inversely correlated with time elapsed between sample collection and onset of disease (P < 0.05), whereas serum anti-GM1 IgG levels positively correlated with the loss of functional ability (P < 0.005). Increased anti-GM1 antibodies in GBS serum were not associated with clinical or serological evidence of infectious antecedents nor with previous GM1 treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Antibodies↗
PubMed1993

[Analytical evaluation of significant chemical and physico-chemical parameters in water for human consumption].

A quality control of drinking water has been performed in hospitals and schools located in the Vomero-Area of Naples. Some chemical pollutants (iron, manganese, ammonia nitrogen, nitrite, nitrate, fluoride) as well as chemical and physical parameters (hardness, pH, electric conductivity, chloride, cations) have been periodically analyzed from Autumn 1991 to Summer 1992.

Anions↗
PubMed1991

Human malic enzymes in heart and muscle: evidence of a selective distribution.

The NADP(+)-dependent activity of malic enzymes EC 1.1.1.39 and EC 1.1.1.40 was studied in human cardiac and skeletal muscle obtained from living subjects. We used polyacrylamide gel electrophoresis to detect and extract the enzymatic forms and starch gel electrophoresis to confirm their identification. This simple procedure allowed us to provide evidence of a selective NADP(+)-dependent distribution of malic enzyme activities between the two muscular tissues, using a smaller amount of sample than used with previous methods.

Electrophoresis, Polyacrylamide Gel↗
PubMed1990

[Therapy of systemic candidiasis].

Candida septicaemia is an increasingly common problem. Candida Albicans may be found in yeast form in the intestinal tract, vagina, skin and mucous membranes of apparently healthy individuals. The organism is ubiquitous, and systemic disease occurs almost exclusively in individuals whose resistance to infections is impaired. Diagnosis of invasive candidiasis is often delayed because of the high rate of false negative results on blood cultures, the lengthy period of time required for the identification of positive cultures and the aspecificity of positive findings on blood cultures. The most effective treatment is a combination of amphotericin B and 5-flucytosine. Treatment must be prolonged for 7 days after the first negative culture. Amphotericin B must be administered in doses of 0.5-1 mg/kg/day. Meningitis requires the intrathecal injection of amphotericin B in doses of 0.1 mg/kg/day. Amphotericin B does not induce resistance, and it is highly nephrotoxic, so that blood urea, electrolytes, serum creatinine and platelets must be monitored. 5-flucytosine is not very toxic it does induce resistance after prolonged use. The dose is 100-200 mg/kg/day given orally at 6-hour intervals.

Amphotericin B↗
PubMed1988

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.

Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. The reconstruction of cross-over points on the X chromosomes carrying the EDMD gene excludes from mapping most regions of the X chromosome except for the terminal portion of Xq. Pooled linkage data from the two pedigrees confirm the linkage previously reported with locus DXS15. A cross-over in a carrier female suggests that the EDMD gene is probably located distally to DXS15. In addition the recombinant meioses from one of the two pedigrees suggest the following order for some Xq polymorphic loci: DXS1 (DXYS1-DXS178) DXS42 (F9-DXS15).

Chromosome Mapping↗