Biomedical subjects

E Alonso

Publications and source records attributed to E Alonso.

At least 37 records · Page 2Linked to original sources

PubMed2002

LDL-cholesterol/apolipoprotein B ratio is a good predictor of LDL phenotype B in type 2 diabetes.

LDL phenotype B is a component of diabetic dyslipidaemia, but its diagnosis is cumbersome. Our aim was to find easily available markers of phenotype B in a group of type 2 diabetic subjects. We studied 123 type 2 diabetic patients (67.5% male, aged 59.3+/-10.1 years, mean HbA1c 7.4%). Clinical features and fasting total cholesterol, triglyceride, HDL cholesterol, LDL cholesterol (LDLc, using Friedewald's equation and an alternative formula), apolipoprotein B (apoB), lipoprotein (a) and LDL particle size (on gradient polyacrylamide gel electrophoresis) were assessed. Patients with phenotypes A (predominant LDL size > or =25.5 nm) and B (<25.5 nm) were compared, and regression analysis was performed to find the best markers of LDL particle. Cut-off points were obtained and evaluated as predictors of phenotype B (kappa index). Patients with phenotype B (36%) showed higher total cholesterol, triglyceride and apolipoprotein B, and lower HDL cholesterol and LDLc/apoB ratio. Triglyceride was the best predictor of LDL particle size (r=-0.632, p<0.01), but an LDLc/apoB ratio below 1.297 mmol/g detected phenotype B best (sensitivity 65.9%, specificity 92.4%, kappa=0.611). Although triglyceride concentration is the best predictor of LDL size in type 2 diabetes, LDLcholesterol/apolipoproteinB ratio is the best tool to detect phenotype B.

Aged↗

PubMed2002

Heavy metal content and speciation in groundwater of the Guadiamar river basin.

This work presents the conclusions of a speciation study concerning Zn, Cd, Pb and Cu in groundwater from ten wells in the alluvial aquifers of the Guadiamar river, affected by Aznalcollar mine tailing spill (April 1998). The sampling campaign took place in January 2000, almost two years after the mining accident. Four metal fractions were determined: labile metal forms, H+ exchangeable metal forms, strongly inert forms (associated with organic and inorganic matter in solution), and forms associated with suspended matter. Total metal concentration in groundwater followed the trend Cd < Pb < Cu < Zn. The speciation study showed that Zn and Cd were present to a great extent in available forms (labile and H+ exchangeable), while Pb and Cu were found mostly in the less available forms (strongly inert). These results can illustrate the potential value of the speciation tool for the follow-up of spill-induced pollution in the area.

Biological Availability↗

PubMed2002

The EMECAM project: a multicentre study on air pollution and mortality in Spain: combined results for particulates and for sulfur dioxide.

OBJECTIVE: The EMECAM study is a collaborative effort to evaluate the impact of air pollution on mortality in Spain. In this paper the combined results are presented for the short term effects of particulates and sulfur dioxide on both daily mortality for all and for specific causes. METHODS: The relation between daily mortality for all causes, cardiovascular diseases, and respiratory diseases, and air pollution for particulates (daily concentrations) and SO(2) (24 and 1 hour concentrations) was assessed in 13 Spanish cities for the period 1990-6. With a standardised method, magnitude of association in each city was estimated by Poisson regression in a generalised additive model. Local estimates were obtained from both single and two pollutant analyses. Lastly, combined estimates for each cause and pollutant were obtained. RESULTS: For combined results, in single pollutant models a 10 microg/m(3) increase in the concentration of the mean of the concurrent and one day lag for black smoke was associated with a 0.8% (95% confidence interval (95% CI) 0.4 to 1.1%) increase in total mortality. The estimates for total suspended particles (TSPs) and particulate matter of aerodynamic diameter <10 microm (PM(10)) and total mortality were slightly lower. The same increase in concentrations of SO(2) was associated with a 0.5% increase in daily deaths. For groups of specific causes, higher estimations were found, specially for respiratory conditions. Peak concentrations of SO(2) showed significant associations with the three groups of mortality. When two pollutant analyses were performed, estimates for particulates, specially for black smoke, did not substantially change. The estimates for daily concentrations of SO(2) were greatly reduced, but, on the contrary, the association with peak concentrations of SO(2) did not show any change. CONCLUSIONS: There is an association between mortality and pollution through particulates among city populations in Spain. Peak rather than daily concentrations of SO(2) were related to mortality. Results suggest that populations in Spanish cities are exposed to health risks derived from air pollution.

Air Pollutants↗

PubMed2002

Effects of increasing dietary niacin on growth performance and meat quality in finishing pigs reared in two different environments.

We conducted two experiments to determine the effects of added dietary niacin on growth performance and meat quality in finishing pigs. Pigs were blocked by weight and assigned to one of six dietary treatments in both experiments. Dietary treatments consisted of a corn-soybean meal-based control diet (no added niacin) or the control diet with 13, 28, 55, 110, or 550 mg/kg of added niacin. In Exp. 1, pigs were housed at the Kansas State University research from with two pigs per pen (six pens per treatment per sex). In Exp. 2, pigs were housed with 26 pigs per pen (four pens per treatment per sex) in a commercial research barn. In Exp. 1, 144 pigs (initially 51.2 kg) were fed diets in two phases (d 0 to 25 and 25 to 62) that were formulated to 1.00 and 0.75% lysine, respectively. In Exp. 2, 1,248 pigs (initially 35.9 kg) were fed diets in four phases (d 0 to 28, 29 to 56, 57 to 84, and 85 to 117), with corresponding total lysine concentrations of 1.25, 1.10, 0.90, and 0.65% lysine, respectively. Added fat (6.0%) was included in the first three phases. In Exp. 1, average daily feed intake tended (quadratic, P < 0.07) to increase then return to values similar to control pigs as dietary niacin increased. Longissimus muscle (LM) 24-h pH (longissimus of pigs fed added niacin) tended to increase (control vs niacin, P < 0.06) for pigs fed added niacin. In the commercial facility (Exp. 2), increasing added niacin improved gain:feed (quadratic, P < 0.01) and subjective color score, and ultimate pH (linear, P < 0.01). Added niacin also decreased (linear, P < 0.04) carcass shrink, L* values, and drip loss percentage. Results from these two studies show that 13 to 55 mg/kg added dietary niacin can be fed to pigs in a commercial environment to improve gain:feed. It also appears that pork quality, as measured by drip loss, pH, and color, may be improved by higher concentrations of added dietary niacin.

Animal Feed↗

PubMed2001

Spiro beta-lactams as beta-turn mimetics. Design, synthesis, and NMR conformational analysis.

Molecular modeling calculations using high-level ab initio methods (MP2/6-31+G) of a new type of spiro beta-lactams predict that these systems could adopt a beta-turn secondary structure in solution. Strong intramolecular hydrogen bonds stabilize the beta-turn conformation with a geometry that is very close to the ideal type II beta-turns. The synthesis of the spiro beta-lactams is achieved by Staudinger reaction of a cyclic ketene derived from N-bencyloxycarbonyl-L-proline acid chloride with an imine. This reaction allows the formation of the spiranic backbone in a single-step with high diastereoselectivity and good yields. The new spiro beta-lactams obtained are the core for the preparation of different types of peptidomimetics using well-established peptide chemistry. The NMR conformational analysis shows that these compounds adopt beta-turn conformation as predicted by the theoretical studies.

Anti-Bacterial Agents↗

PubMed2001

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by expansion of an unstable ATTCT repeat. SCA10 has been described as a pure cerebellar syndrome accompanied by seizures and has been recognized only in families of Mexican origin. We describe clinical and molecular findings of 18 patients in four Mexican families with SCA10. Affected individuals had an average age at onset of 26.7 years (range 14-44 years) and ATTCT repeats ranging from 920 to 4,140 repeats. We could not detect significant anticipation or correlation between repeat size and age at onset, probably due to the small sample size. In addition to pure cerebellar ataxia and seizures, patients often showed soft pyramidal signs, ocular dyskinesia, cognitive impairment, and/or behavioral disturbances. Brain magnetic resonance imaging showed predominant cerebellar atrophy, and nerve conduction studies indicated polyneuropathy in 66% of patients. One family showed hepatic, cardiac, and hematological abnormalities in affected members. These findings suggest that a wide range of tissues may be affected in SCA10, including those outside of the cerebellum and cerebral cortex.

Adolescent↗

PubMed2001

Galactosides and sialylgalactosides in O-linked oligosaccharides of the primordial germ cells in Xenopus embryos.

The primordial germ cells (PGCs) are covered by surface glycoconjugates; some of them, like galactose residues recognized by peanut agglutinin (PNA), have been reported to be implicated in the PGC migration process. The aim of this work was the characterization of galactosides and sialylgalactosides in N- and O-linked oligosaccharides of Xenopus PGCs. Galactose(Gal)- and sialic acid(Neu5Ac)-binding lectin cytochemistry, in combination with chemical and enzymatic deglycosylation methods, were used. PGCs were slightly labeled with PNA, RCA-I and BSI-B4, which suggests the presence of the sequences Gal(beta1,4)GlcNAc and Gal(alpha1,3)Gal. Moreover, there was no labeling when beta-elimination pre-treatment was performed, suggesting that galactosides were in O-linked oligosaccharides. The strong staining with DSA was probably due to GlcNAc. Furthermore, sialylgalactosides with the sequence Neu5Ac(alpha2,3)Gal(beta1,4)GlcNAc in O-linked oligosaccharides have been shown by means of MAA, PNA and RCA-I.

Animals↗

PubMed2001

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.

Alternative Splicing↗

PubMed2001

Carbohydrate moieties of the interstitial and glandular tissues of the amphibian Pleurodeles waltl testis shown by lectin histochemistry.

The amphibian testis is a useful model because of its zonal organisation in lobules, distributed along the cephalocaudal axis, each containing a unique germ cell type. Sperm empty lobules form the so-called glandular tissue at the posterior region of the gonad. Androgen production is limited to the cells of the interstitial tissue surrounding lobules with spermatozoa bundles and to the cells of the glandular tissue. In this work, we have studied the distribution of terminal carbohydrate moieties of N- and O-linked oligosaccharides in the interstitial and glandular tissue of the Pleurodeles waltl testis, by means of 14 lectins combined with chemical and enzymatic deglycosylation pretreatment. Some differences in glycan composition between the interstitial and the glandular tissue have been detected. Thus in both tissues, N-linked oligosaccharides contained mannose, Gal(beta1,4)GlcNAc, and Neu5Ac(alpha2,3)Gal(beta1,4)GlcNAc, while O-linked oligosaccharides contained Con A-positive mannose, Gal(beta1,3)GalNAc, Gal(beta1,4)GlcNAc, Neu5Ac(alpha2,3)Gal(beta1,4)GlcNAc, and WGA-positive GlcNAc. Fucose was also detected in both tissues. However, GlcNAc on N-linked oligosaccharides and GalNAc and Neu5Ac(alpha2,6)Gal/GalNAc on both N- and O-linked oligosaccharides were found only in the interstitial tissue. As glandular tissue cells arise from the innermost cells of interstitial tissue that surround lobules, the differences in the glycan composition of interstitial and glandular tissue shown in this work may be related to the start of androgen synthesis when steroid hormone (SH)-secreting cells develop.

Androgens↗

PubMed2001

Glycan composition of follicle (Sertoli) cells of the amphibian Pleurodeles waltl. A lectin histochemical study.

The glycan composition of the N- and O-linked oligosaccharides of the follicle (Sertoli) cells of the urodele amphibian Pleurodeles waltl testis were identified by lectin histochemistry, performed alone or in combination with enzymatic and chemical deglycosylation methods. The follicle cells were shown to contain: (1) Fuc, Galbeta(1,4)GlcNAc, GalNAc and Neu5Acalpha(2,3)Galbeta(1,4)GlcNAc in both N- and O-linked oligosaccharides; (2) Man in N-linked glycans; and (3) Galbeta(1,3)GalNAc in O-linked sugar chains. The follicle cells at the pre- and postmeiotic stages showed some differences in the UEA-1-positive Fuc characterisation, suggesting differences in the glycan composition. In addition, the sequence Neu5Acalpha(2,6)Gal/GalNAc was shown in the follicle cells only after spermiation, in the sperm-empty lobules of the developing glandular tissue. These results suggest that the follicle cells modify their glycoprotein content, probably for the performance of new roles, as the spermatogenetic cells develop. Thus the follicle cells surrounding male germ cells at different spermatogenetic stages would contain different glycoproteins involved in specific roles during male germ cell proliferation and maturation.

Acetylgalactosamine↗

PubMed2001

Body mass index as a predictor of hepatic steatosis in living liver donors.

Evaluation of the living donor for liver transplantation is a complex process involving such invasive studies as liver biopsy and angiography. It is important to establish the likelihood and extent of hepatic steatosis in living donors by clinical, imaging, and biochemical parameters to avoid performing a liver biopsy, if possible. In this study, the predictive value of body mass index (BMI), liver chemistry tests, and imaging studies was compared with liver histological examination in 33 potential living donors. Patients were grouped and compared based on their BMI (<25, 25 to 28, >28). No patient with a BMI less than 25 had hepatic steatosis. Of patients with a BMI of 25 to 28, steatosis was found on biopsy in 3 of 9 patients. Thirteen of 17 patients (76%) with a BMI greater than 28 had hepatic steatosis on liver biopsy. There was a significant correlation between BMI and overall grade of steatosis (R = 0.49). All subjects with steatosis detected on magnetic resonance imaging (MRI) or computed tomography (CT) had steatosis on biopsy, and all but 2 such patients had greater than 10% steatosis on biopsy. Conversely, 30% of patients in the MRI group and 24% of patients in the CT group failed to show hepatic steatosis when it was present on biopsy. Thus, it appears that liver biopsy could be avoided in subjects with a normal BMI and absence of risk factors. Individuals with a high BMI should undergo liver biopsy because biochemical and imaging data are currently inadequate to determine the extent of steatosis. Future studies should aim at improving the sensitivity of imaging techniques in the diagnosis of steatosis.

Adolescent↗

PubMed2001

Usefulness and reproducibility of cytomorphologic evaluations to differentiate myeloma from monoclonal gammopathies of unknown significance.

We attempted to differentiate monoclonal gammopathies of unknown significance (MGUS) and multiple myeloma (MM) on morphologic grounds and to determine interobserver reproducibility of the differentiation. Cytologists blindly evaluated bone marrow smears from 154 patients with bone marrow plasmacytosis for the proportion of plasma cells with predefined cellular atypias. The single morphologic characteristic that most strongly differentiated MM from MGUS was the presence of nucleoli. The percentage of plasma cells, cytoplasmic contour irregularities, and anisocytosis also predicted a diagnosis of myeloma in multivariate analysis. Six cytologists independently evaluated 68 consecutive cases to determine sensitivity and specificity of these cytomorphologic features. The interobserver coefficient of variation for the plasma cell count was 33%. On consideration of the diagnosis, 36 of 41 MGUS cases and all 24 cases of myeloma were classified correctly. The use of a predesigned score system did not present such a bias, although it did not improve overall efficiency. The plasma cell count is the most predictive characteristic of myeloma from a cytologic viewpoint, but the interobserver variability is high. Interobserver variability is also high in the assessment of morphologic atypia, and atypical traits are not uncommon in plasma cells in MGUS.

Blood Cell Count↗

PubMed2001

Effect of allergen immunotherapy on soluble adhesion molecules.

UNLABELLED: The level of soluble adhesion molecules in the serum reflects the degree of systemic inflammation but the dynamics of these molecules in the pathogenesis of allergic diseases and their evolution during treatment, remains to be established. OBJECTIVE: To determine the evolution of the levels of soluble forms of serum intercellular adhesion molecule-1 (sICAM-1) and vascular cell adhesion molecule-1 (sVCAM-1) during immunotherapy to Dermatophagoides pteronyssinus in patients with allergic rhinitis and/or asthma. POPULATION: We included in this study 23 patients with perennial allergic rhinitis and/or asthma to Dermatophogoides pteronyssinus. 17 patients (6 males, 11 females, 13-48 years; mean: 27.2 years) were treated for one year with specific immunotherapy using standardized slow-release D. pteronyssinus extract (Lofarma, Milan, Italy). The other 6 patients (control group; 2 males, 4 females, 20-37 years; mean: 26.5 years) received only symptomatic treatment. METHODS: Serum sICAM-1 and sVCAM-1 were measured by ELISA method (R&D system). Blood samples were collected from each immunotherapy-treated patient at two timings: before immunotherapy (T0) and after one year of immunotherapy (T1). The two blood samples from each control patient (T0 and T1) were also collected one year apart. RESULTS: Before Immunotherapy (T0), the mean serum level of sICAM-1 was 336.0 ng/ml. After one year of immunotherapy (T1) it decreased to 325.2 ng/ml but this difference was not statistically significant. Mean serum level of sVCAM-1 was 655.5 ng/ml before immunotherapy (T0), decreasing significantly (p < 0.05) to 568.2 ng/ml (T1). In the control group both sICAM-1 and sVCAM-1 had no significant changes (sICAM-1: 363.1 ng/ml (T0) and 374.7 ng/ml (T1); sVCAM-1: 611.5 ng/ml (T0) and 649.8 ng/ml (T1). CONCLUSIONS: These results suggest that specific immunotherapy with D. pteronyssinus induces a decrease in serum sVCAM-1 but not in sICAM-1 levels. The decreased expression of sVCAM-1 after immunotherapy is probably related to a decrease in the inflammatory reactions.

Adolescent↗

PubMed2001

Leukotriene receptor antagonists (Montelukast) in the treatment of asthma crisis: preliminary results of a double-blind placebo controlled randomized study.

OBJECTIVE: Evaluate the efficacy of oral Montelukast 10 mg as an add-on therapy to the usual emergency therapy of an asthma crisis in an emergency room (ER). POPULATION: Twenty adults that sought medical attention in the ER of our Hospital and in whom, on admission, it appeared unnecessary to give systemic steroids. METHODS: All patients received the usual therapy of the asthma crisis. Simultaneously it was randomly administered a capsule containing 10 mg Montelukast or placebo, in a double-blind protocol. In both groups we evaluated the evolution of Peak-Flow values, the duration of stay in the ER as well as the need for additional therapy with systemic aminophylline or steroids, representing an insufficient response to the initial treatment. Student's T test was used to evaluate the statistical differences between these two groups. RESULTS: Both the Montelukast (MK) and Placebo (PL) groups were comparable regarding age and sex distribution, Peak-Flow values and Arterial O2 values on admission. During therapy, MK group had a shorter duration of ER stay (MK = 2.5 h; PL = 2.9 h) and a better evolution of Peak-Flow values (medium increase of 55% from baseline versus 44% in PL group). However these differences did not reach statistical significance. In the MK group one patient needed systemic steroids and 4 received systemic aminophylline while in the PL group 4 patients received systemic steroids and 8 aminophylline. This difference was significant (p = 0.03). We did not observe any significant side effects during therapy. CONCLUSIONS: Despite a small trend favourable to Montelukast we did not observe significant differences between groups regarding duration of stay or Peak-Flow evolution during therapy in ER, most probably due to the small sample size. However patients in the MK group needed significantly less systemic therapy with aminophylline or steroids. These data, in view of the very good safety profile of Montelukast, allow us to conclude that this is a useful additional therapy, which should be considered in the ER treatment of the asthma crisis.

Acetates↗

PubMed2001

Effect of specific immunotherapy versus loratadine on serum adhesion molecules.

OBJECTIVE: To evaluate comparatively the effect on serum ICAM-1 and VCAM-1 values of specific immunotherapy versus loratadine in the treatment of allergic rhinitis. POPULATION: 65 patients with mild to moderate House Dust Mite allergic rhinitis. METHODS: Patients were divided into three groups, according to patients' preference: a control group with patients receiving only rescue therapy (antihistamines and/or nasal cromoglycate when needed); an antihistamine group with patients receiving daily loratadine 10 mg (and nasal cromoglycate as rescue therapy); an immunotherapy group with patients receiving subcutaneous house dust mite specific immunotherapy (and antihistamines or nasal cromoglycate when needed). In all groups we measured soluble ICAM-1 and VCAM-1 serum levels before the start of the study period and at the end of the study period. The duration of the study was one year for the control group and for the immunotherapy group. In patients taking daily antihistamines we measured serum adhesion molecules one month after the beginning of the therapy. We used Student's T test for statistical analysis. RESULTS: Patients in the control group didn't have significant variations in serum ICAM-1 (p = 0.239) or VCAM-1 (p = 0.38) levels. Patients receiving loratadine showed significant decreases in serum VCAM-1 levels (p = 0.0012) but not in serum ICAM-1 levels (p = 0.224). Patients receiving immunotherapy also showed a similar pattern, with significant decreases in serum VCAM-1 levels (p = 0.012) but not in serum ICAM-1 levels (p = 0.254). CONCLUSIONS: Specific house dust mite immunotherapy and regular daily loratadine therapy are able to lower significantly serum levels of soluble VCAM-1. However, this effect, which can be interpreted as an anti-inflammatory action, is not applied to soluble ICAM-1 levels, which raises the possibility of a differential action of these therapies on the mechanisms of allergic inflammation. Patients on rescue medication alone did not show any significant differences in these parameters.

Adolescent↗

PubMed2000

Experience with the Rex shunt (mesenterico-left portal bypass) in children with extrahepatic portal hypertension.

BACKGROUND/PURPOSE: Extrahepatic portal vein thrombosis (EPVT) in children can lead to severe bleeding from gastrointestinal varices, ascites, thrombocytopenia from hypersplenism, and other coagulation disorders. The authors have used the superior mesenteric vein to intrahepatic left portal vein (Rex) shunt in 5 children with symptomatic EPVT and report their results with this novel technique. METHODS: Children with symptomatic portal hypertension were screened for the underlying cause. All children with essentially normal livers and obstruction of the extrahepatic portal vein were considered for the Rex shunt. Evaluation included liver function tests, liver biopsy, and radiological evaluation of the intrahepatic vascular anatomy. RESULTS: Five patients between the ages of 2.8 and 10.5 years underwent evaluation for portal hypertension secondary to extrahepatic portal vein obstruction. Three patients had idiopathic extra hepatic portal vein thrombosis with cavernous transformation, 1 had thrombosis after a living-related liver transplant, and 1 had compression and obstruction of the main portal vein from enlarged lymph nodes after treatment of systemic histoplasmosis. All patients were symptomatic. Three patients had intermittent bleeding from esophageal and gastric varices, and all 5 had relative degrees of hypersplenism with enlarged spleens and thrombocytopenia (11,000 to 77,000). Three patients had significant leukopenia. Results of imaging studies suggested that 3 patients had inadequate intrahepatic portal veins for shunting, but all patients at exploration underwent successful shunting. There were no serious intraoperative complications. Postoperative complications included ascites in 2 patients that resolved within 1 month. There were no early shunt thromboses. The median postoperative length of stay was 7 days. Clinical follow-up ranged from 7 to 21 months. Gastrointestinal bleeding did not recur in any patient, and ascites resolved in all. Spleen size decreased significantly (P < .01) from 9.4 +/- 4.0 cm to 5.0 +/- 3.7 cm below the left costal margin. Mean platelet count and white blood cell count rose after shunting from 79 +/- 42 to 176 +/- 73 (P < .02) and 5.4 +/- 2.3 to 7.5 +/- 3.9 (P = .06), respectively. All shunts were studied at 1 and 7 days, and 3 and 6 months after the procedure. Shunt patency was documented in all cases. Subsequently, shunt blockage occurred in 2 patients. CONCLUSIONS: The Rex shunt has proven to be an effective method of resolving portal hypertension caused by EPVT including thrombosis after living donor transplantation. This shunt is preferable to other surgical procedures because it eliminates portal hypertension and its sequelae by restoring normal portal flow to the liver.

Child↗

PubMed2000

Lectin histochemical identification of the carbohydrate moieties on N- and O-linked oligosaccharides in the duct cells of the testis of an amphibian urodele, the spanish newt (Pleurodeles waltl).

The aim of the present work was to study the carbohydrate moieties present on N- and O-linked oligosaccharides of duct cells of a urodele amphibian testis, by means of lectin histochemistry. It was found that duct cells have a carbohydrate composition that includes alpha(1,3)-, alpha(1,4)- or alpha(1,6)-linked Fuc and Man on N-linked oligosaccharides, Gal and GlcNAc on O-linked oligosaccharides, and DBA-positive GalNAc, alpha(1,2)-linked Fuc and Neu5Ac alpha(2,3)Gal beta(1,4)GlcNAc on both N- and O-linked oligosaccharides. All the duct cells showed the same lectin labelling pattern, the only exception being some sparse duct cells that showed the sequence Neu5Ac alpha(2,6)Gal/GalNAc. The possible roles of duct cells in sperm maturation and the hypothesis for a common origin of duct and follicle (Sertoli) cells in the urodele testis are discussed.

Animals↗

PubMed2000

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13-qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome.

Animals↗