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Biomedical subjects

M Mora

Publications and source records attributed to M Mora.

At least 19 recordsLinked to original sources
PubMed2006

[Preclinical diagnosis of the familial nephropathy associated to hyperuricemia].

We describe one patient with the pre-symptomatic diagnosis of the disease named afamilial nephropathy associated to hyperuricemia)) (OMIM 162000; FJHN). This is a hereditary disease, autosomic dominant, characterized by its progression to renal insufficiency. Several mutations in the gene that codifies uromodulin or Tannn-Horsfall protein (UMOD) have been identified in some families. The clinical presentation is heterogeneous. In some cases the disease appears as juvenile hyperuricemia due to a diminished renal urate excretion, with or without gout, but in some other cases the first manifestation is renal insuffciency. The study of the UMOD gene shows that patient is heterozygous for the mutation C869 --> A, which results in C255Y change, and enabled to establish the diagnosis of FJHN. This patient shows the possibility to identify the genetic alteration associated to FJHN in early stages. This fact implies a clinical follow-up and eventual treatment to reduce the inexorable progression to renal insuffciency.

Child↗
PubMed2005

Pathological gambling and age: differences in personality, psychopathology, and response to treatment variables.

The aim of this study was to ascertain the possible differences in personality, psychopathology, and response to treatment in pathological gambling according to age. The sample, comprising 67 participants, was divided into three groups: 32.6% with ages ranging between 17 and 26 years, 31.3% between 27 and 43 years, and 35.8% over 44 years of age. The participants were administered the following tests, Minnesota Multiphasic Personality Inventory [MMPI; Hathaway, S.R. & McKinley, J.C. (1943, 1961). Cuestionario de personalidad MMPI. Madrid Seccion de Estudios de TEA ed. 1970, 1975], sensation-seeking questionnaire [SSS; Zuckerman, M. (1979). Sensation seeking; beyond the optimal level of arousal. Hillsdale, NJ: Lawrence Erlbaum Associates], and the Symptom Check List Revised [SCL-90-R; Derogatis, L.R. (1977). Symptom check list-90 revised. Administration scoring and procedures manual. Baltimore]. All underwent a group treatment programme that was carried out in the Pathological Gambling Unit at Ciutat Sanitaria i Universitaria de Bellvitge (CSUB), Teaching hospital, Barcelona, Spain. The findings show differences depending on age in the participants' personality and in psychopathology and in their response to treatment.

Adolescent↗
PubMed2004

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

BACKGROUND: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or adult) and severity. OBJECTIVE: To identify the molecular bases of different neuromuscular forms of GSD-IV and to establish possible genotype/phenotype correlations. METHODS: Eight patients with GBE deficiency had different neuromuscular presentations: three had fetal akinesia deformation sequence (FADS), three had congenital myopathy, one had juvenile myopathy, and one had combined myopathic and hepatic features. In all patients, the promoter and the entire coding region of the GBE gene at the RNA and genomic level were sequenced. RESULTS: Nine novel mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. The three cases with FADS were homozygous, whereas all other cases were compound heterozygotes. CONCLUSIONS: This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.

1,4-alpha-Glucan Branching Enzyme↗
PubMed2004

Incorporation of hydrophobic porphyrins into liposomes: characterization and structural requirements.

The ability of photosensitisers to give reactive oxygenated products is considered decisive for photodynamic applications, but the hydrophobic nature of many porphyrins makes necessary to obtain suitable pharmaceutical formulations. This paper reports the structural photosensitiser features that allow the preparation of stable liposomal formulations. Metallated and non-metallated TPPs and TPyPs and different lipid/porphyrin ratios were considered in order to procure liposomal preparations containing porphyrin concentrations adequate to necessary doses. The results show that the incorporation of porphyrins into liposomes can be related with their ability to form aggregates in a watery media. Thus, ZnTPP, which structural properties avoid the formation of aggregates, was efficiently incorporated into stable liposomes. Moreover, the efficient generation of singlet oxygen by ZnTPP liposomal suspensions has been shown. Because of this, the synthesis of hydrophobic porphyrin derived structures or other sensitisers, which do not aggregate in a watery media and with Q-bands shifted to higher lambda values than ZnTPP, will be efficiently incorporated into liposomes and useful for clinical applications.

Calorimetry, Differential Scanning↗
PubMed2004

Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy.

BACKGROUND: The term myofibrillar myopathy refers to a rare and clinically heterogeneous group of muscle disorders. The pathogenesis of this myopathy is not well understood. The morphologic hallmark is myofibrillar destruction with abnormal expression of numerous proteins, most consistently of desmin. METHODS: The authors investigated eight patients with myofibrillar myopathy belonging to four families. They studied the role of different protein kinase C isoforms and of interleukin-1beta, a cytokine that might activate protein kinase C and, in addition, mediate myofibrillar proteolysis. RESULTS: Immunohistochemical analysis showed the expression of alpha, eta, and zeta isoforms of protein kinase C and of interleukin-1beta in abnormal muscle fibers. Immunoblots confirmed the immunohistochemical data and revealed the absence of protein kinase C delta and epsilon in muscle fibers from patients and controls. CONCLUSIONS: These data suggest that protein kinase C and interleukin-1beta may play a role in the pathogenesis of myofibrillar myopathy.

Adenosine Triphosphatases↗
PubMed2004

Hemoglobin mass and peak oxygen uptake in untrained and trained female altitude residents.

Total hemoglobin mass has not been systematically investigated in females at altitude. We measured this quantity (CO-rebreathing method) as well as peak oxygen uptake in 54 young women (age 22.5 +/- 0.6 SE years) with differing physical fitness living in Bogota (2600 m) and compared the results with those of 19 subjects from 964 m in Colombia and 75 subjects from 35 m in Germany. In spite of an increased hemoglobin concentration the hemoglobin mass was not changed in highlanders (means 9.0 to 9.5 g . kg (-1) in untrained subjects at all altitude levels). Endurance trained athletes, however, showed a rise in hemoglobin mass by 2 - 3 g . kg (-1) at all sites. Erythropoietin was little increased in Bogota; iron stores were within the normal range. Aerobic performance capacity was lower at high altitude than at sea level and remained so also after correction for the hypoxic deterioration in untrained and moderately trained subjects but not in athletes; possibly the cause was reduced daily physical activity in non-athletic Bogotanians compared to lowlanders. After exclusion of the factor V.O(2peak) by analysis of covariance a mean rise of 6.6 % in hemoglobin mass at 2600 m was calculated being smaller than in males (> 12 %). The attenuated increase of hemoglobin mass in female highlanders possibly results from stimulation of ventilation improving arterial oxygen saturation or from an increased hypoxia tolerance of cellular metabolism both caused by female sexual hormones.

Acclimatization↗
PubMed2003

Thermodynamic conformational analysis and structural stability of the nicotinic analgesic ABT-594.

This work presents a theoretical study of the nicotinic analgesic ABT-594. We describe its neutral (precursor) and protonated (active) forms in vacuum and aqueous solution at the MP2/cc-pVDZ level. A conformational analysis is performed on the two torsional angles describing the orientation of the azetidinyl group and the azetidinylmethoxy moiety. To account for entropic effects, a thermostatistical study of conformational populations at physiological temperature is carried out. In the neutral form, conformer I is found as the most populated in vacuum and solution. Here, the nitrogen of the azetidinyl group is far from the electron pairs of the oxygen and the pyridinic nitrogen. In the protonated form, conformer VIII is the most stable in vacuum and solution. Now, the additional proton on the azetidinyl group is oriented toward the electron lone pairs of oxygen. The structural stability of conformers I and VIII is considered through the atoms in molecules theory. The conformer I, in the neutral forms, is stabilized by an intramolecular hydrogen bond. The preference of conformer VIII in the protonated forms is explained by the higher strength of its intramolecular hydrogen bond over the cation-pi interaction found in conformer I. The effect of the interaction energy with the receptor on the conformational preferences of protonated ABT-594 is simulated. The result is that the population of conformers associated to the rotation of the azetidinyl group increases. So, the molecule can easily adopt the optimal internitrogen separation for interaction with the receptor.

Analgesics↗
PubMed2003

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer.

Utrophin is highly homologous and structurally similar to dystrophin, and in gene delivery experiments in mdx mice was able to functionally replace dystrophin. We performed mini-utrophin gene transfer in Golden Retriever dogs with canine muscular dystrophy (CXMD). Unlike the mouse model, the clinicopathological phenotype of CXMD is similar to that of Duchenne muscular dystrophy (DMD). We injected an adenoviral vector expressing a synthetic utrophin into tibialis anterior muscles of newborn dogs affected with CXMD and examined transgene expression by RNA and protein analysis at 10, 30 and 60 days postinjection in cyclosporin-treated and -untreated animals. Immunosuppression by cyclosporin was required to mitigate the immune response to viral and transgene antigens. RT-PCR analysis showed the presence of the exogenous transcript in the muscle of cyclosporin-treated and -untreated animals. The transgenic utrophin was efficiently expressed at the extrajunctional membrane in immunosuppressed dogs and this expression was stable for at least 60 days. We found reduced fibrosis and increased expression of dystrophin-associated proteins (DAPs) in association with muscle areas expressing the utrophin minigene, indicating that mini-utrophin can functionally compensate for lack of dystrophin in injected muscles. For this reason, utrophin transfer to dystrophin-deficient muscle appears as a promising therapeutic approach to DMD.

Adenoviridae↗
PubMed2003

[Expression of the cdx2 gene in benign intestinal-type mucinous ovarian tumors].

INTRODUCTION: Cdx2 gene belongs to the homeobox caudal gene family and it is located, in humans, on the 13q12.3 chromosome; in particular it codifies for a specific nuclear transcription factor which induces intestinal epithelium development, differentiation and preservation. Cdx2 expression in the human embryo can be observed in the intestinal epithelium starting from the sixth week of gestation. In the foetus and in adults it is observed in the whole enteric tube from the duodenum to the anal canal. Because of its organ specificity, cdx2 is an important marker for metastatic neoplastic lesions. Cdx2 is expressed in intestinal metaplasia and it is focally positive in adenocarcinomas of intestinal type of the stomach, pancreas and gall bladder as well as in ovarian mucinous adenocarcinomas. FINALITY OF THE STUDY: The aim of our study is to detect cdx2 positivity, with evaluation of its characteristics and expression, in ovarian mucinous cistoadenomas. MATERIALS AND METHODS: We examined cdx2 expression in 50 ovarian mucinous cistoadenomas (mean age between 17 and 85), 19 of which were localised in the right ovary while 31 in the left one. Standard staining techniques (H&E), histochemistry (AB-PAS) ed immunohistochemistry with monoclonal antibodies against cdx2 (Biogenex/Menarini cdx2-88, batch MU3920402XS) were performed on formalin fixed and paraffin embedded material. For each case two samples were analysed. RESULTS: Morphological evaluation of the 50 benign mucinous tumours distinguished 47 of endocervical type and 3 of intestinal type. These data were also confirmed by characterisation of mucin profile by AB-PAS staining. Using anti-cdx2 antibodies tumours of endocervical type were negative, while 3 intestinal type tumours were positive. In particular 2 cases presented diffuse nuclear positivity, while in one positivity was only focal. DISCUSSION: Until today only two studies deal with cdx2 expression in mucinous ovarian tumours: 5 and 14 cases strong respectively. In the former, cdx2 expression was positive in all cases (100% positivity--5/5), in the latter cdx2 expression was positive in 64% of cases (9/14). In order to explain the lack of consistency in these data one must analyse ovarian mucinous tumours in detail. These neoplasms are divided into two subtypes: endocervical type and intestinal type. Distinction between these two types is near to impossible in malignant tumours, difficult in borderline tumours while it becomes easy in benign ones. Among benign tumours, endocervical type tumours are the majority, while intestinal type are much more infrequent. Our 50 case strong casistic is sufficiently ample to include 3 cases of intestinal type, all of which are cdx2 positive, compared to a complete negativity in the remaining 47 tumours clearly of endocervical type. We believe that the lack of consistency between the aforementioned studies is probably due to the fact that neither work contemplates the subdivision in intestinal and endocervical types. It is hence possible to hypothesise a selective and specific correlation between cdx2 positivity and the intestinal type epithelial component of ovarian tumours.

Adolescent↗
PubMed2002

Clinicopathological features of genetically confirmed Danon disease.

BACKGROUND: Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. OBJECTIVE: To define the clinicopathologic features of Danon disease. METHODS: The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed. RESULTS: All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy. CONCLUSIONS: Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.

Adolescent↗
PubMed2002

Environmental contaminants in prey and tissues of the peregrine falcon in the Big Bend Region, Texas, USA.

Peregrine falcons (Falco peregrinus) have been recorded nesting in Big Bend National Park, Texas, USA and other areas of the Chihuahuan Desert since the early 1900s. From 1993 to 1996, peregrine falcon productivity rates were very low and coincided with periods of low rainfall. However, low productivity also was suspected to be caused by environmental contaminants. To evaluate potential impacts of contaminants on peregrine falcon populations, likely avian and bat prey species were collected during 1994 and 1997 breeding seasons in selected regions of western Texas, primarily in Big Bend National Park. Tissues of three peregrine falcons found injured or dead and feathers of one live fledgling also were analyzed. Overall, mean concentrations of DDE [1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene], a metabolite of DDT [1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane], were low in all prey species except for northern rough-winged swallows (Stelgidopteryx serripennis, mean = 5.1 microg/g ww). Concentrations of mercury and selenium were elevated in some species, up to 2.5 microg/g dw, and 15 microg/g dw, respectively, which upon consumption could seriously affect reproduction of top predators. DDE levels near 5 microg/g ww were detected in carcass of one peregrine falcon found dead but the cause of death was unknown. Mercury, selenium, and DDE to some extent, may be contributing to low reproductive rates of peregrine falcons in the Big Bend region.

Animals↗
PubMed2002

Vaccination campaign following an increase in incidence of serogroup C meningococcal diseases in the department of Puy-de-Dôme (France).

In the department of Puy-de-Dôme, France, 17 cases of invasive meningococcal disease C were notified between March 2001 and the first week of 2002. Among the 15 confirmed cases, 11 (73%) were serogroup C, 2 (13%) serogroup B, and 2 could not be identified. The rapid increase in the number of cases in a period of low endemicity for the rest of the country and the severity of the disease (case fatality ratio 27%, purpura fulminans 64%) led the health authorities to initiate a vaccination campaign targeting children and young adults from 2 months up to 20 years living in a limited area of the department. Around 80,000 people were immunised between 16/01/02 and 09/02/02. More than half of the 1390 immediate side effects were headache and dizziness. As of mid-March, no further case of meningococcal disease has been notified since 6 January.

Adolescent↗
PubMed2001

Thymic hyperplasia and lung carcinomas in a line of mice transgenic for keratin 5-driven HPV16 E6/E7 oncogenes.

Human Papillomavirus type 16 (HPV-16) is the cause of both benign lesions and ano-genital cancers. In HPV-associated cancers the transforming properties of the expressed viral E6 and E7 proteins have been revealed by a number of different assays. We have generated transgenic mice expressing HPV-16 E6/E7 genes under the control of the murine keratin 5 gene promoter, which should confer cell-type specific expression in the basal cells of squamous stratified epithelia. Transgenic mice developed thymic hyperplasia and lung neoplasia with 100% frequency, the thymus showing a size increase at 2 months and reaching the maximum dimension at 6 months, when lung carcinomas appeared. After this time the size of hyperplastic thymi decreased, while malignant formations invaded the mediastinal area. Hepatic metastasis could be also observed in some of the animals at the autopsy and death invariably occurred around 10-11 months of age.

Animals↗
PubMed2001

Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development.

We have characterized the time course of muscle pathology development during the postnatal maturation of quadriceps and tibialis anterior muscle in dystrophic golden retriever dogs. We determined the percentages of degenerating, regenerating, calcium-positive, hypercontracted, albumin-positive, and C3 complement fraction-positive muscle fibers and the extent of connective tissue proliferation in animals from neonate to adult. Necrotic fibers increased from days 2 to 30, decreased at 60 days (to 0.8%) and increased in older animals to a stable level of around 2%. Hypercontracted fibers peaked at 15 days (19.1%) and declined to 3.7% in adults. Regenerating fibers were numerous at 15 and 30 days (10%), declined at 60 days to 4.7% and declined further in adults. Calcium- and albumin-positive fibers peaked at 30 days (6.5% and 13.8%, respectively) and then declined to around 3% and 5%, respectively, in older dogs. In dystrophic dogs, the extent of fibrosis was significantly greater on 15 days than in controls, but did not then increase with age. In carriers, calcium- and albumin-positive fibers always expressed dystrophin abnormally. Muscle damage occurs before completion of muscle maturation in dystrophic dogs. While necrosis and hypercontraction remain stable in adults, fiber regeneration declines to very low levels. In contrast to Duchenne muscular dystrophy, muscle fibrosis in the muscle studied does not increase with age.

Aging↗
PubMed2001

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies.

Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.

Adolescent↗
PubMed2001

Hemoglobin mass and peak oxygen uptake in untrained and trained residents of moderate altitude.

Blood composition, hemoglobin mass (CO rebreathing method) and VO2peak were measured in 15 untrained (UT-Bogotá) and 14 trained males (TR-Bogotá) living at 2600 m of altitude, and in 14 untrained lowlanders (UT-Berlin). [Hb] amounted to 15.3 + 0.2(SE) g/dl in UT-Berlin, 17.4 + 0.2 g/dl in UT-Bogotá and 16.0 + 0.2 g/dl in TR-Bogotá. Hb mass was significantly higher in UT-Bogotá (13.2 + 0.4 g/kg, P < 0.01) and in TR-Bogotá (14.7 + 0.5 g/kg, P < 0.001) than in UT-Berlin (11.7 + 0.2 g/kg). In TR-Bogotá also plasma volume was expanded. Erythropoietin concentrations in UT-Bogotá and TR-Bogotá were not significantly increased. There was a positive correlation between blood volume and VO2peak for the pooled values of all subjects, if the oxygen uptake of UT-Berlin was corrected for an ascent to 2600 m. For the Hb mass - VO2peak relation two groups are indicated pointing to two types of altitude acclimatization with different Hb mass increases but similar distribution of aerobic performance capacity. We suggest that different genetic properties in a population of mixed ethnic origin might play a role.

Acclimatization↗
PubMed2001

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.

Nonsense mutations outside the splicing consensus sequence have been reported to cause skipping of the nonsense-containing exon in several human diseases. We describe, for the first time, nonsense-mediated exon skipping in the laminin alpha2 (LAMA2) gene. Two siblings from a consanguineous family had altered expression of the laminin alpha2 chain and moderate clinical manifestations. In both we identified the new nonsense mutation Arg744Stop, which we expected to result in a totally non-functional polypeptide. However, analysis of the transcript revealed skipping of exon 15, containing the mutation, even though the consensus sequences for splicing at both ends of the exon and the beginning of intron 15 were unaltered. Exon skipping restored the open reading frame of the mutant transcript and resulted in a truncated protein. In cases where the genetic findings do not elucidate the phenotype, mRNA analysis is necessary to clarify the primary effect of mutations. Our findings also point to the necessity of immunochemical screening for expression of laminin alpha2 chain in atypical dystrophic adults as well as children.

Adult↗