Case-control study and meta-analysis of low density lipoprotein receptor-related protein gene exon 3 polymorphism in Alzheimer's disease.

The low density lipoprotein receptor-related protein (LRP) may influence both the clearance and the production of beta-amyloid peptide and thus plays a role in Alzheimer's disease (AD) pathogenesis. Previous studies, although inconsistent, have suggested that the LRP exon 3 CC genotype contributes to the risk of AD. A case-control study utilizing a clinically well-defined group of 305 sporadic AD patients and 304 control subjects was performed to test this association in an ethnically homogeneous population from Spain.

High levels of docosahexaenoic acid (22:6n-3)-containing phospholipids in high-frequency contraction muscles of hummingbirds and rattlesnakes.

Phospholipids containing docosahexaenoic acid (22:6n-3) have been proposed to be required as conformational cofactors for the functional assembly of membrane proteins such as rhodopsin, ion pumps and the various complexes of the mitochondrial electron transport chain (Infante, 1987, Mol. Cell. Biochem.

Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion.

Clinical, electrophysiologic and molecular studies were performed on at-risk members of 14 families with hereditary neuropathy with liability to pressure palsies (HNPP), in order to detect asymptomatic carriers of the 17p11.2 deletion. Sporadic cases due to de novo deletion accounted for 21% of the investigated HNPP families.

[Neurologic complications of herpes zoster. A retrospective study in 100 patients].

Introduction And Objectives: The neurologic complications associated with herpes zoster are infrequent except for postherpetic neuralgia. The aim of this study was to review the clinical profile and the distribution of these complications in a retrospective series of patients.

Patients And Method: A retrospective analysis of the last 100 patients admitted with the diagnosis of herpes zoster with neurologic complications to our center from 1992 to 1999 by the Departments of Internal Medicine and Neurology was performed.

Within-tree variation in transpiration in isolated evergreen oak trees: evidence in support of the pipe model theory.

Within-tree variation in sap flow density (SFD) was measured in two isolated evergreen oak (Quercus ilex L.) trees growing in an oak savannah (dehesa) in southwest Spain. Sap flow was estimated by the constant heating method.

[Cancer of the tonsillar region. Retrospective study and review of the literature].

It has been carried out a retrospective analysis of 34 patients suffering from carcinoma epidermoid of the tonsillar fossa being treated with two different therapies from 1989 to 1996. Twenty three of them were treated with surgery (transoral resection or bloc radical tonsillectomy with myocutaneous flap reconstruction and ipsilateral lymph node dissection). Eleven of them were treated with chemotherapy and radiotherapy.

Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria.

The recent literature on polyunsaturated fatty acid metabolism in phenylketonuria (PKU) is critically analyzed. The data suggest that developmental impairment of the accretion of brain arachidonic (20:4n-6) and docosahexaenoic (22:6n-3, DHA) acids is a major etiological factor in the microcephaly and mental retardation of uncontrolled PKU and maternal PKU. These fatty acids appear to be synthesized by the recently elucidated carnitine-dependent, channeled, mitochondrial fatty acid desaturases for which alpha-tocopherolquinone (alpha-TQ) is an essential enzyme cofactor.

Catecholamine levels in practitioners of the transcendental meditation technique.

With the aim of evaluating the sympathetic-adrenal medulla system in subjects practicing transcendental meditation (TM), their plasma catecholamine levels were determined at two different times of day. The study group consisted of 19 subjects who regularly practice either TM or Sidhi-TM technique, with a control group made up of 16 healthy subjects who had not previously used any relaxation technique. Catecholamine plasma levels were determined by high performance liquid chromatography, at 0900 and 2000 h.

Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis.

The putative involvement of peroxisomal beta-oxidation in the biosynthetic pathway of docosahexaenoic acid (22:6n-3, DHA) synthesis is critically reviewed in light of experiments with two recently developed knockout mouse models for Zellweger syndrome, a peroxisomal disorder affecting brain development. These mice were generated by targeted disruption of the PEX2 and PEX5 peroxisomal assembly genes encoding targeting signal receptor peroxins for the recognition and transport of a set of peroxisomal enzymes, including those of peroxisomal beta-oxidation, to the peroxisomal matrix. Analysis of esterified 22:6n-3 concentrations in PEX2-/- and PEX5-/- mice do not support the hypothesized requirement of peroxisomal beta-oxidation in 22:6n-3 synthesis, as only brain, but not liver or plasma, 22:6n-3 levels were decreased.

Changes in frequency and severity of limited joint mobility in children with type 1 diabetes mellitus between 1976-78 and 1998.

Objective: Limited joint mobility (LJM), the earliest clinically apparent long-term complication of type 1 diabetes mellitus, is a risk indicator for microvascular complications, and its appearance is primarily affected by long-term metabolic control. We hypothesized that the prevalence of LJM had decreased during the past 20 years.

Study Design: We examined 312 subjects with type 1 diabetes mellitus, aged 7 to 18 years, using the same examination method and criteria as in studies of 515 subjects in this age group carried out between 1976 and 1978 for whom primary data were available, including age, duration of diabetes, and LJM stage.

High-precision isotope ratio mass spectrometry and stable isotope precursors for tracer studies in cell culture.

The use of stable isotope-labeled tracers is demonstrated in an in vitro system with analysis by high-precision isotope ratio mass spectrometry (IRMS), using n-3 long-chain polyunsaturated fatty acid (LCP) biosynthesis from [U-(13)C]18:3n-3 (18:3n-3*) in Y79 human retinoblastoma cells as a model system. The cells were cultured as a suspension in RPMI 1640 medium supplemented with 15% fetal calf serum at 37 degrees C with 5% CO(2) in air. They were harvested by sedimentation and cell lipids were extracted to determine the presence of 18:3n-3* metabolites using gas chromatography-combustion (GCC)-IRMS.

[Progressive anarthria: one case without lingual apraxia].

Progressive anarthria is a focal cortical degenerative disorder characterized by a profound, progressive alteration in speech without impairment in other cognitive domains. The first symptoms consist of an alteration in the articulation of speech producing telegraphic speech. The disorder invariably progress towards anarthria by deprogramming of the phonation and orolingual movements (bucophonetic apraxia).

[Scintigraphic pattern in a case of Tarlov cyst].

We report the case of a 40-year-old man remitted to our department with a history of lower back pain and sciatica with no history of trauma. The laboratory analyses showed normal values whereas plain radiographs showed a sacrum rarefaction area. A 99mTc-MDP bone scintigraphy was performed to evaluate the lumbosacral area.

Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation.

A critical analysis of the literature of mitochondrial disorders reveals that genetic diseases of oxidative phosphorylation are often associated with impaired beta-oxidation, and vice versa, and preferentially affect brain, retina, heart and skeletal muscle, tissues which depend on docosahexaenoic (22:6n-3)-containing phospholipids for functionality. Evidence suggests that an increased NADH/NAD(+) ratio generated by reduced flux through the respiratory chain inhibits beta-oxidation, producing secondary carnitine deficiency while increasing reactive oxygen species and depleting alpha-tocopherol (alpha-TOC). These events result in impairment of the recently elucidated mitochondrial pathway for synthesis of 22:6n-3-containing phospholipids, since carnitine and alpha-TOC are involved in their biosynthesis.

Evaluation of tumor marker S-100 in cerebrospinal fluid from subjects with nonischemic brain pathologies.

In order to evaluate the S-100 concentration in cerebrospinal fluid from subjects with nonischemic brain damage, a total of 33 samples were analyzed: 11 from subjects in whom no organic disease could be found; 14 from patients with a diagnosis of lymphocytic or bacterial-fungal meningitis, and 8 from patients with acute lymphatic leukemia but no demonstrable signs of meningeal involvement. In all cases, the subjects considered had no previous history of melanoma or ischemic brain damage. The mean levels +/- SEM found for each study group were 1.

[CEA, CA 19.9 and CA 195 in patients with colorectal carcinoma. ROC analysis].

The aim of this study was to assess the utility of determining serum levels of the CEA, CA 19.9 and CA 195 tumor markers in 906 patients with colorectal carcinoma for a 5-year follow-up period. In addition to calculating sensitivity and specificity for the common normal limits, the results were analyzed with RO curves.

Mechanisms of resistance to pathogenesis in muscular dystrophies.

A mechanistic definition of the dystrophic process is proposed, and the effects of growth factors vs. down-regulation of growth are critically analyzed. A conceptual scheme is presented to illustrate the steps leading to pathology, and various compensatory systems which ameliorate the pathology are examined, particularly in regards to the mdv mouse which is resistant to the deficiency of dystrophin, the main protein product of the Duchenne and Becker muscular dystrophy (DMD/BMD) gene.

A function for the vitamin E metabolite alpha-tocopherol quinone as an essential enzyme cofactor for the mitochondrial fatty acid desaturases.

A critical analysis of the changes in fatty acid patterns and their metabolism elicited by vitamin E deficiency leads to the proposal that a major role of dietary RRR-alpha-tocopherol (alpha-TOC) is as an enzymatic precursor of alpha-tocopherolquinone (alpha-TQ) whose semiquinone radical functions as an essential enzyme cofactor for the fatty acid desaturases of the recently elucidated carnitine-dependent, channeled, mitochondrial desaturation-elongation pathway; a detailed mechanism for its function is proposed. Pathophysiological states produced by vitamin E deficiency and alpha-TOC transfer protein defects, such as ataxia, myopathy, retinopathy, and sterility are proposed to develop from the effects of impaired alpha-TQ-dependent desaturases and the resulting deficiency of their polyenoic fatty acid products.

[Radionuclide bone scanning in patients with breast carcinoma. Study of lesions by stages, locations and diagnostic assessment].

The aim of this study was to evaluate the diagnostic role of bone scan in patients with breast carcinoma. With this purpose, we have studied 591 patients (4 males). In 261 of them, we were able to establish the stage of disease: 33 in stage I, 137 in stage II, 71 in stage III y 20 in stage IV.