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Biomedical subjects

R Rizzo

Publications and source records attributed to R Rizzo.

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

Effects of trimetazidine administration before thrombolysis in patients with anterior myocardial infarction: short-term and long-term results.

Reperfusion may prevent or reduce the development and extent of necrosis, but may also lead to an increase in reperfusion damage. Experimental studies performed in various animal models of myocardial ischemia have demonstrated the anti-ischemic properties of trimetazidine (TMZ) and have suggested that TMZ has antioxidant properties, without any direct hemodynamic effects. Our study was aimed at investigating the effects of TMZ before thrombolysis in acute anterior myocardial infarction and included 81 patients, hospitalized within 4 hours of the onset of symptoms. Patients were randomly (double-blind) subdivided in two groups The first group (40 patients, Group A, TMZ-pretreatment), received 40 mg TMZ orally about 15 minute before thrombolysis and, subsequently, 20 mg every 8 hours. The second group (41 patients, Group B) received placebo before thrombolysis. Ventricular arrhythmias (VA) due to reperfusion were evaluated in the first 2 hours. VA occurred in 15 of patients in group A, versus 29 in group B, p<0.05. Creatine kinase (CK) normalization time was achieved after 55.7+/-12.5 hours in group A, versus 61.2+/-12.1 hour in group B, p = 0.048. CK peak was 1772+/-890 in group A vs. 2285+/-910 Ul/l in group B, (p = 0.012). In the follow-up (range 6-22 months), there were 4 deaths, two patients in each group. After 180 days from treatment, the TMZ group showed a smaller end systolic volume than the placebo group (echocardiographic data), 46.2+/-12 and 52.8+/-13 ml/m2, respectively, p = 0.037. Our data suggest that TMZ probably reduces reperfusion damage and/or infarct size in patients with anterior AMI subjected to thrombolysis and affects the post-AMI remodeling. Our data must be interpreted with caution because of the selection of patients. These findings require further extensive trials.

Aged↗
PubMed1999

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3. In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) and post-axial polydactyly type A (PAP-A; MIM 174200), two other disorders of human development, are caused by GLI3 mutations. In order to gain more insight into the mutational spectrum associated with a single phenotype, we report here the extension of the GLI3 mutation analysis to 24 new GCPS cases. We report the identification of 15 novel mutations present in one of the patient's GLI3 alleles. The mutations map throughout the coding gene regions. The majority are truncating mutations (nine of 15) that engender prematurely terminated protein products mostly but not exclusively N-terminally to or within the central region encoding the DNA-binding domain. Two missense and two splicing mutations mapping within the zinc finger motifs presumably also interfere with DNA binding. The five mutations identified within the protein regions C-terminal to the zinc fingers putatively affect additional functional properties of GLI3. In cell transfection experiments using fusions of the DNA-binding domain of yeast GAL4 to different segments of GLI3, transactivating capacity was assigned to two adjacent independent domains (TA(1)and TA(2)) in the C-terminal third of GLI3. Since these are the only functional domains affected by three C-terminally truncating mutations, we postulate that GCPS may be due either to haploinsufficiency resulting from the complete loss of one gene copy or to functional haploinsufficiency related to compromised properties of this transcription factor such as DNA binding and transactivation.

Animals↗
PubMed1998

Correlation between biochemical composition and magnetic resonance appearance of articular cartilage.

OBJECTIVE: The objective of this study was to find a correlation between magnetic resonance (MR) appearance and biochemical composition of the normal articular cartilage by comparing the laminar aspects with the distribution of the two principal matrix components: proteoglycans and collagen. DESIGN: T2-weighted MR microimages of porcine cartilage-bone plugs, excised from both the habitually loaded and habitually unloaded regions of the proximal end of the humerus, were obtained using a spin-echo sequence. Proteoglycans (PGs) were monitored by histology and by measuring the uronate and the sulfur content of the tissue; a histologic method and the chemical determination of hydroxyproline were used for the evaluation of the collagen content. RESULTS: The 'loaded' cartilage exhibited the expected MR laminar appearance whereas the 'unloaded' tissue appeared to be more homogeneous. The PG content in the 'loaded' cartilage, was found to be 2.4 times higher than in the habitually unloaded tissue, exhibiting an increasing trend from the articular surface to the bone. In the 'unloaded' cartilage the uronate distribution was more uniform with a higher concentration in the intermediate zone. The mean collagen content of both cartilage regions was found to be about 39% of the tissue dry weight. Histology and hydroxyproline distribution pattern showed that collagen was particularly concentrated at the surface and in a central zone of the 'loaded' cartilage whereas in the 'unloaded' tissue collagen was evident only at the surface. In accordance with the collagen distribution, transverse relaxation (T2) times in 'loaded' cartilage showed a minimum value at the articular surface and another minimum in a central region. On the contrary, the average T2 value of the 'unloaded' tissue was high at the surface and decreased rapidly in the deeper zones. CONCLUSION: These results demonstrate that the MR appearance of articular cartilage correlates with the collagen content, but not with that of PGs, of the different zones. Other matrix components might, however, influence the MR appearance by contributing to the macromolecular organization of the tissue.

Animals↗
PubMed1997

Familial broad terminal phalanges with one individual showing additional anomalies.

We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1997

Autosomal dominant and sporadic radio-ulnar synostosis.

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.

Adult↗
PubMed1997

Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism.

We describe a 4-year-old boy affected by congenital hypothyroidism (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, pectus carinatum and slight scoliosis, psychomotor delay, growth retardation and a severe hypoplasia of the right cerebellar hemisphere and vermis. Given the finding of unilateral cerebellar pathology this unusual association might be explained by an insult in utero--more environmental than genetic. However, to the best of our knowledge, a relationship between CH and cerebellar anomalies has not been previously reported.

Cerebellum↗
PubMed1996

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

Adult↗
PubMed1996

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

Abnormalities, Multiple↗
PubMed1996

The Williams syndrome: an Italian collaborative study.

Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.

Abnormalities, Multiple↗
PubMed1995

Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose.

We report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderline/normal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a "new" form of AR microcephaly, since normal intelligence is not found, nor are the associate findings as pronounced, as in other, more common forms of AR microcephaly (i.e., "microcephalia vera").

Abnormalities, Multiple↗
PubMed1995

Eleven years of community-based directly observed therapy for tuberculosis.

OBJECTIVE: To evaluate community-based directly observed therapy (DOT) for tuberculosis (TB) control. DESIGN: Ecological study. METHODS: Three comparisons were made in this descriptive study. (1) An 11-year retrospective comparison of TB case rates, sputum conversion rates (SCRs), rates of therapy completion, and confounding factors (acquired immunodeficiency syndrome [AIDS], immigration, unemployment, and poverty) in Baltimore, Md, with those of the five major US cities having the highest TB incidence in 1981 but which did not have comprehensive DOT programs. (2) An 11-year trend of TB in Baltimore and the 19 major US cities with the highest TB incidence in 1981. (3) A 7-year trend in TB in both city groups between 1985 and 1992. SETTING: Twenty US metropolitan cities with more than 250,000 residents. RESULTS: Since 1981, Baltimore experienced the greatest decline in TB incidence (35.6 cases per 100,000 population, 1981; 17.2 cases per 100,000 population, 1992 [-51.7%]), and city rank for TB (sixth in 1981, 28th in 1992). Conversely, the average incidence of TB increased 2.1% in the five-city cohort and increased 1.8% in the 19-city cohort. Since 1985, TB incidence increased 35.3% in the five-city cohort and 28.5% in the 19-city cohort, but declined 29.5% in Baltimore. From 1986 through 1992, Baltimore's DOT-managed cases had the highest annual SCRs at 3 months (mean, 90.7%), and the highest completion rates for standard anti-TB therapy (mean, 90.1%) when compared with the five cities. These trends could not be attributed to differentials in AIDS, immigration, poverty, or unemployment. Increasingly, more Baltimore cases were treated under DOT (86.5%, 1993) over time. Disease relapse rates remained low, even among HIV-infected patients. Within Baltimore, the documented SCR was significantly higher among DOT-managed cases compared with non-DOT-managed cases (P < .05); multidrug resistance remains rare (0.57%). Within Maryland, Baltimore accounted for 44.4% of all TB cases in 1981, compared with 28.7% in 1992 (P < .001). CONCLUSIONS: In contrast to the national TB upswing during the 1980s, Baltimore experienced a substantial decline in TB following implementation of community-based DOT, despite highly prevalent medicosocial risk factors. Directly observed therapy facilitated high treatment completion rates and bacteriologic evidence of cure. Directly observed therapy could help reduce TB incidence in the United States, particularly in cities with high case rates.

Baltimore↗
PubMed1995

Calcium, sulfur, and zinc distribution in normal and arthritic articular equine cartilage: a synchrotron radiation-induced X-ray emission (SRIXE) study.

Calcium, sulfur, and zinc content in normal and arthritic equine cartilage have been studied by synchrotron radiation-induced X-ray emission (SRIXE). Ranging from the superficial to the columnar zone of the normal tissue, calcium and zinc concentrations are increasingly higher, whereas sulfur is at its highest concentration in the transitional zone. In the arthritic tissue, calcium concentration is at its maximum in the transitional zone, whereas zinc and sulfur distributions are relatively homogeneous. Sulfur concentration in arthritic cartilage is reduced to about one-third with respect to that in normal tissue. The possibility that zinc concentration reflects the distribution of the zinc-containing enzyme alkaline phosphatase is presented.

Animals↗
PubMed1995

Degradation of trans-ferulic and p-coumaric acid by Acinetobacter calcoaceticus DSM 586.

Cell suspensions of Acinetobacter calcoaceticus strain DSM 586 and DSM 590 were able to grow on benzoic, p-hydroxybenzoic and vanillic acid as sole carbon source. Testing the utilization of trans-ferulic and p-coumaric acid, we found that the sole A. calcoaceticus DSM 586 efficiently degraded the lignocellulose related monomers. Cells induced with trans-ferulic acid were able to oxidize trans-ferulic, p-coumaric, vanillic, p-hydroxybenzoic and protocatechuic acid at rates higher than the uninduced culture. The same activity was found in the p-coumaric acid induced culture. Two aromatic compounds, vanillic and p-hydroxybenzoic acid, were isolated from culture filtrates of trans-ferulic and p-coumaric acid grown cells, respectively, and further characterized by high performance liquid chromatography. 1H- and 13C-nuclear magnetic resonance and ultraviolet spectrophotometry. Cell extracts of trans-ferulic or p-coumaric acid induced cultures were shown to rapidly convert protocatechuic acid to beta-carboxymuconic acid. Moreover, A. calcoaceticus DSM 586 produced high levels of protocatechuic 3,4-dioxygenase compared to cathecol 1,2-dioxygenase and gentisate 1,2-dioxygenase in the degradation of trans-ferulic or p-coumaric acid. Based upon these results, a reaction sequence for the complete degradation of trans-ferulic and p-coumaric acid in A. calcoaceticus DSM 586 is proposed.

Acinetobacter calcoaceticus↗
PubMed1995

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral and fibular defects. In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS). Another patient had isolated PFFD on one side, with controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot rays, and the last 2 patients, a father and son, had, respectively, bilateral foot malformations plus fibular and tibial hypoplasia in the father and a PFFD in the son. These observations represent a further demonstration of the existence of a fibular developmental field, and contribute to the definition of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifactorial etiology.

Abnormalities, Multiple↗
PubMed1995

Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly.

An 11-year-old girl with typical features of primary osteoma cutis is reported. She demonstrated multiple areas of subcutaneous, asymptomatic, slow-growing nodules, mostly localized at the extremities. Radiographic evidence of soft tissue calcification and histologic confirmation of ectopic bone formation was obtained. She also showed café-au-lait spots, woolly hair and intrauterine growth deficiency.

Bone and Bones↗
PubMed1995

Bioelectric impedance detects fluid retention in patients undergoing cardiopulmonary bypass.

Excessive fluid accumulation is associated with increased morbidity and prolonged convalescence after cardiopulmonary bypass. However, water fluctuations are difficult to assess solely on the basis of changes in body weight and fluid balance. Bioelectric impedance analysis is a simple, rapid, noninvasive bedside technique that measures the resistance of the body to a weak alternating current (50 kHz). The change in resistance is inversely proportional to the change in total body water. To investigate the relationship between body weight, fluid balance, and resistance, 18 patients who had cardiopulmonary bypass (9 men, 9 women, aged 61 +/- 3 years, weighing 80 +/- 4 kg, with ejection fraction 54% +/- 3% and bypass time 113 +/- 8 minutes [mean plus or minus standard error of the mean]) were followed up for 7 postoperative days. Body weight, fluid balance, and whole body and regional resistance were determined at 24-hour intervals. In the immediate postoperative period, fluid retention was accurately detected by simultaneous measurements of weight gain and decreased resistance (p < 0.001). Both measurements detected the initiation of diuresis by postoperative day 2 (p < 0.01). Whole body resistance returned to baseline values by day 7 (p > 0.05), and body weight returned to baseline on day 4 (p > 0.05). Change in weight and change in whole body resistance were highly correlated with cumulative fluid balance (r = 0.84, p < 0.001, and r = -0.81, p < 0.001, respectively), and these two measures were also related to each other throughout the study (r = -0.89, p < 0.001). The initial change in resistance was the best measurement associated with postoperative outcome (p < or = 0.01). The data suggest that the measurement of electric resistance across the body can accurately detect acute changes in total body water and in fluid redistribution through the body. However, determining the relative day-to-day change in whole body resistance seems more appropriate than calculating absolute fluid changes over time. Bioelectric impedance offers a simple, rapid, noninvasive method to monitor serial changes in total body water. This technique can be useful in situations in which rapid alterations in water compartments occur, and it may be useful in predicting outcome after cardiopulmonary bypass.

Adult↗
PubMed1994

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32,000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.

Abnormalities, Multiple↗