PubMed Health⌕ Search

Biomedical subjects

A Del Rio

Publications and source records attributed to A Del Rio.

At least 19 recordsLinked to original sources
PubMed2005

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

We report three related and one unrelated child with an apparently novel neurodevelopmental disorder. The clinical course was very similar in all the four patients: congenital microcephaly with severe failure of post-natal brain growth, neonatal onset of intractable seizures associated with lack of developmental progression and death within the first 3 years of life. The appearance on cerebral neuroimaging was almost identical, with simplified gyration associated with a non-thickened cortex, severe hypoplasia of the corpus callosum, a small flattened brain stem, and specific cystic lesions in the white matter around the temporal and occipital horns. To our knowledge these patients represent a previously unreported, autosomal recessive syndrome. Homozygosity mapping in the consanguineous family has identified a candidate region on the chromosome 2p16.

Abnormalities, Multiple↗
PubMed2003

Infective endocarditis not related to intravenous drug abuse in HIV-1-infected patients: report of eight cases and review of the literature.

OBJECTIVES: To add to the limited information on infective endocarditis (IE) not related to intravenous drug abuse (IVDA) in HIV-1-infected patients. METHODS: We have reviewed the characteristics of eight cases of IE in non-IVDA HIV-1 infected patients diagnosed in our institution between 1979 and 1999 as well as cases in the literature. RESULTS: All our patients were male, and the mean age was 44 years (range 29-64). HIV-1 risk factors were: homosexuality in five, heterosexuality in two, and the use of blood products in one. HIV stage C was found in six cases, and the median (range) CD4 cell count was 22/microL (4-274 cells/microL). IE was caused by Enterococcus faecalis in three cases, staphylococci in two cases, and Salmonella enteritidis, viridans group streptococci and Coxiella burnetii in one case each. Three patients acquired IE while in the hospital. All IE cases involved a native valve, and underlying valve disease was found in three patients. The aortic valve was the most frequently affected (five cases). Two patients underwent surgery, with a good outcome, and one patient died. Fourteen cases of IE not related to IVDA in HIV-1-infected patients were found in the literature review. The most common causative agents were Salmonella spp. and fungi (four cases each). Two patients had prosthetic valve IE, and the mitral valve was the most frequently affected (10 cases). The remaining clinical characteristics and the outcome were similar to those in the present series. CONCLUSIONS: IE not related to IVDA is rare in HIV-1-infected patients. In more than half of the cases, IE develops in patients with advanced HIV-1 disease. A wide etiologic range is found, reflecting different clinical and environmental conditions. None of the patients who underwent surgery died, and the overall mortality rate was not higher than in non-HIV-1-infected patients with IE.

AIDS-Related Opportunistic Infections↗
PubMed2002

Streptococcus agalactiae infective endocarditis: analysis of 30 cases and review of the literature, 1962-1998.

We describe 30 cases (1.7%) of community-acquired penicillin-susceptible Streptococcus agalactiae endocarditis among 1771 episodes of endocarditis diagnosed in 4 Spanish hospitals from 1975 through 1998. Endocarditis affected a native valve (most often the mitral valve) in 25 cases (83%). Surgical valve replacement was performed for 12 patients (40%). Fourteen patients (47%) died. Mortality rates for patients with native and prosthetic valve endocarditis were 36% and 100%, respectively (P=.01). The mortality rate for native valve endocarditis decreased during the last 6 years of the study (from 61% in 1975-1992 to 8% in 1993-1998; P<.05). Additionally, 115 cases in the literature from 1962-1998 were reviewed. During 1980-1998, the percentage of patients who underwent cardiac surgery increased from 24% (in the previous period, 1962-1979) to 43% (P=.05) and the mortality rate decreased from 45% to 34% (P=NS). S. agalactiae is an uncommon cause of endocarditis with a high mortality rate, although the prognosis of native valve endocarditis has improved in recent years, probably because of an increased use of cardiac surgery.

Adult↗
PubMed2001

Effects of selenium and zinc supplementation on nutritional status in patients with cancer of digestive tract.

OBJECTIVE: To evaluate the effect of oral administration of selenium and zinc tablets in patients with cancer of the digestive tract during chemotherapy. DESIGN: A case-control, randomized study. SETTING: Medical Oncology, II University of Naples, Naples, Italy. SUBJECTS: A total of 60 patients (median age 55 y, range 46-61 y) with diagnosis of gut cancer were randomized in 1999. Patients were treated for 60 days with chemotherapy. INTERVENTIONS: Trace elements were measured by atomic absorption spectroscopy. The nutritional status of the patients was assessed by biochemical and bio-impedance analysis (BIA) parameters in basal condition and after 60 days of treatment. Oral administration of selenium and zinc in oral tablet form for 50 days was Se 200 microg/day (50 microg/tablet) and Zn 21 mg/day (7 mg/tablet). RESULTS: Both in the basal condition and at 60 days all patients were malnourished. Selenium and zinc concentrations were significantly lower (P < 0.01) whereas copper concentration was significantly higher (P < 0.01) in cancer patients than in control subjects. However, 21/30 (70%) of those treated with Se and Zn did not showed a further worsening of nutritional status and experienced a significant decrease of asthenia with an increase of appetite. On the other hand, 24/30 (80%) untreated patients had a significant decline of all parameters studied after 60 days (prealbumin, cholesterol, transferrin, P < 0.05 vs 0 time; total proteins, albumin/globulin ratio, P < 0.01 vs 0 time; fat-free mass, fat mass, Na+/K+ ratio, body mass index P < 0.05 vs 0 time; fat free mass/fat mass, total body water, extra cellular/intra cellular water, basal metabolic rate: P < 0.01 vs 0 time). CONCLUSIONS: Data indicate that Se and Zn supplementation may improve the clinical course of general conditions in patients with gut cancer. These effects of Se and Zn require confirmation in an independent trial of appropriate design before new public health recommendations regarding Se and Zn supplementation can be made.

Case-Control Studies↗
PubMed1999

Coexisting preexcitation syndrome and intermittent heart block presenting as neonatal seizures.

An infant presented with neonatal syncope and seizures. An ECG showed a preexcitation pattern, most compatible with Wolff-Parkinson-White (WPW) syndrome. Rhythm monitoring during an event demonstrated prolonged periods of complete AV block with no ventricular escape mechanism. We postulated that ventricular asystole was initiated by mechanical or autonomic influences on the accessory pathway and sustained by electrophysiologic interactions between the accessory pathway and the junctional escape focus. This is the first case report of a newborn having coexisting congenital AV block and WPW syndrome.

Cardiac Pacing, Artificial↗
PubMed1994

Policosanol inhibits cholesterol biosynthesis and enhances low density lipoprotein processing in cultured human fibroblasts.

Policosanol is a mixture of aliphatic primary alcohols isolated and purified from sugar cane wax, that induces cholesterol-lowering effects in experimental models and human beings. When human lung fibroblasts were incubated with policosanol for 48 hours prior to the experiment, a dose dependent inhibition of 14C-acetate incorporation into total cholesterol was observed, whereas labeled mevalonate incorporation was not inhibited. Even when cholesterol synthesis was not strongly inhibited, low density lipoprotein (LDL) processing was markedly enhanced. Thus, LDL binding, internalization and degradation were significantly increased after policosanol treatment. In addition, despite the fact that'cholesterol generation was not inhibited at the lowest dose of policosanol assayed, LDL processing was significantly increased. The current data indicate that policosanol inhibits cholesterol synthesis at the earliest steps of the cholesterol biosynthetic pathway. On the other hand, this study suggests that the increase in LDL processing may be partially explained by the inhibition of cholesterol biosynthesis, even though an sterol-independent mechanism might be responsible for the enhancement of LDL-receptor activity.

Anticholesteremic Agents↗
PubMed1980

Neural control of gene expression in the skeletal muscle fibre: the nature of the lesion in the muscular protein-synthesizing machinery following denervation.

Experiments are reported showing that following 8 days of denervation the function of the protein-synthesizing machinery, operating in the rat gastrocnemius fibres, is altered, probably as a consequence of decreased amounts of ribosomes and actively translated mRNA. In addition, the data obtained show that the amount per muscle and the availability per ribosome of the soluble factors involved in the process of protein synthesis are markedly decreased, thus suggesting that the amounts of ribosomes, mRNA and soluble factors are regulated in a concerted fashion when muscular protein synthesis is decreased after denervation.

Animals↗
PubMed1980

Neural control of gene expression in the skeletal muscle fibre: changes in the muscular mRNA population following denervation.

The mRNA populations of control and 8-days-denervated adult rat gastrocnemius have been analysed by the translation assay and the cDNA-mRNA molecular hybridization technique. This analysis demonstrates the appearance of marked changes in many of the mRNA sequences present in muscle fibres following denervation and thus gives strong support to the hypothesis that the motoneurons are able to control the gene expression of muscle fibres.

Animals↗
PubMed1979

The role of growth hormone in the pathogenesis of postmenopausal osteoporosis.

The secretory response of somatotropic hormone (STH) to arginine hydrochloride stimulation (0.5 g/kg) was studied in 13 postmenopausal women. Eight showed evidence of osteoporosis, based on clinical and morphoradiological data and on metacarpal cortical thickness measurement, and five had normal bone mass. In addition, the response to levodopa (500 mg) was determined in four of the osteoporotic patients. Baseline STH concentrations in the osteoporotic subjects did not differ from those in the nonosteoporotic group, but the latter showed a significant increase over the former at 45, 60, 90, and 120 minutes after stimulation. Similar findings were obtained with levodopa stimulation. Without necessarily implying a cause-effect relationship, our data appear to support the hypothesis that the poor secretory response of STH may be to some degree responsible for the osteopenia observed during the climateric.

Adult↗
PubMed1978

Metacarpal cortical thickness in uremic patients on regular hemodialysis.

Metacarpal cortical thickness was measured in 83 patients with chronic renal failure undergoing periodic hemodialysis. Patients were dialyzed twice weekly, 8--9h per session, with a calcium concentration in dialysate of 6.5 mg/dl. Supplements of calcium, vitamin D (5,000 I.U. a day), steroid anabolic hormones, and aluminium hydroxyde were administered to all patients. They were on a normal protein intake and unrestricted physical activity. The results show that the young males have a reduction in cortical thickness as compared to age-matched controls, and that there is a progressive loss in cortical width as the length of dialysis increases. This bone loss is statistically significant in males during their first 18 months of dialysis.

Adolescent↗