Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.

Mononeuritis Multiplex Due to Hansen's Disease: A Look Through Ultrasound and Electrodiagnosis.

Hansen's disease is caused by Mycobacterium leprae. This bacillus can invade the peripheral nerves asymmetrically, including the ulnar, median, and radial nerves, causing mononeuritis multiplex. We present the case of a 41-year-old man with a history of Hansen's disease with sensory and motor symptoms.

Correlation Nerve Conduction Studies with Findings of the Ultrasound of the Median Nerve in Patients with Carpal Tunnel Syndrome.

Background: Ultrasonography is a diagnostic resource that serves as a complement in the evaluation of patients with carpal tunnel syndrome. The correlation of ultrasonography findings with nerve conduction studies can serve to classify new phenotypes and to evaluate therapeutic responses.

Objectives: To determine the diagnostic sensitivity of ultrasound, the correlation between the diameter of the nerve (CSA) against the motor and sensitive latencies, and the capacity to differentiate the mild, moderate and severe degrees of the electrophysiological classification of carpal tunnel syndrome.

Lifestyle Modification Improves Insulin Resistance and Carotid Intima-Media Thickness in a Metabolically Healthy Obese Prepubescent Population.

Objectives: The aim of this study was to analyze effects of a 12-month lifestyle modification that involved a Mediterranean diet (MedDiet) and physical activity (PA) program in a population of metabolically healthy obese children (MHOCh).

Methods: We included a population of MHOCh with ≤1 of the following criteria: waist circumference and blood pressure ≥90 percentile, triglycerides >150 mg/dL, high-density lipoprotein-cholesterol (HDL-c) <40 mg/dL, or impaired fasting glucose. After 12 months of intensive lifestyle modification, anthropometric measurements, glycemic and lipid profiles, adherence to the MedDiet, energy intake, PA, body composition, and carotid intima-media thickness (cIMT) were analyzed.

Redox signaling in ischemic postconditioning protection involves PKCε and Erk1/2 pathways and converges indirectly in Nrf2 activation.

Ischemic-postconditioning (iPostC) exerts cardioprotection by preserving redox homeostasis in the reperfused heart. This protective effect has been associated with the activation of endogenous antioxidant response driven by transcription factor Nrf2 and with the activation of 'reperfusion injury salvage kinases' (RISK) as PI3K, PKC and Erk1/2. Redox homeostasis is essential for normal cell physiology since reactive oxygen species (ROS) are crucial for processes that involve protein signaling.

CDP-choline circumvents mercury-induced mitochondrial damage and renal dysfunction.

Heavy metal ions are known to produce harmful alterations on kidney function. Specifically, the accumulation of Hg in kidney tissue may induce renal failure. In this work, the protective effect of CDP-choline against the deleterious effects induced by Hg on renal function was studied.

Tamoxifen inhibits mitochondrial oxidative stress damage induced by copper orthophenanthroline.

In this work, we studied the effect of tamoxifen and cyclosporin A on mitochondrial permeability transition caused by addition of the thiol-oxidizing pair Cu -orthophenanthroline. The findings indicate that tamoxifen and cyclosporin A circumvent the oxidative membrane damage manifested by matrix Ca release, mitochondrial swelling, and transmembrane electrical gradient collapse. Furthermore, it was found that tamoxifen and cyclosporin A prevent the generation of TBARs promoted by Cu -orthophenanthroline, as well as the inactivation of the mitochondrial enzyme aconitase and disruption of mDNA.

²¹⁰Po in the diet at Seville (Spain) and its contribution to the dose by ingestion.

The activity concentrations of (210)Po have been determined in a total of 24 representative diet samples from Seville (south of Spain), inferring from the obtained values the annual intakes of (210)Po by ingestion of the affected population and the corresponding committed effective doses. The annual intakes of (210)Po and, consequently, the corresponding doses of this radionuclide show a high variability in correspondence with the variability in the composition of the analysed samples over time, and their magnitude is comparable with the estimated ones in other regions/countries of the world with similar diet habits (countries where the marine products have a considerable weight in the diets). Committed effective doses by ingestion higher than 0.

Changes in electromyographic results of patients with lumbar radiculopathy: a follow-up study.

Objective: To assess the neurophysiologic changes in a group of patients with lumbar radiculopathy 5 to 12 months after their first electromyographic examination.

Design: A prospective group of patients with a case definition of lumbar radiculopathy was reassessed between 5 and 12 months after their first clinical, functional, imaging, and neurophysiologic evaluation. Both the lumbar paraspinals (in which the mini-mapping technique was used) and the same lower limb muscles were explored in every patient.

Comparative analysis of transcriptomic and hormonal responses to compatible and incompatible plant-virus interactions that lead to cell death.

Hypersensitive response-related programmed cell death (PCD) has been extensively analyzed in various plant-virus interactions. However, little is known about the changes in gene expression and phytohormone levels associated with cell death caused by compatible viruses. The synergistic interaction of Potato virus X (PVX) with a number of Potyvirus spp.

Contribution of Ldace1 gene to acetylcholinesterase activity in Colorado potato beetle.

The Colorado potato beetle (CPB), Leptinotarsa decemlineata is an important economic pest of potato worldwide. Resistance to organophosphates and carbamates in CPB has been associated in some cases to point mutations in the acetylcholinesterase (AChE) gene Ldace2, an orthologue of Drosophila melanogaster Dmace2. In this paper we report cloning and sequencing of Ldace1, an orthologue of Anopheles gambiae Agace1 that was previously unknown in CPB.

Factor analysis of carpal tunnel syndrome questionnaire in relation to nerve conduction studies.

Objective: This study aims to assess the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) structure and its relation to nerve conduction studies (NCS).

Methods: A total of 403 patients with clinical and/or electrophysiological definition of CTS were evaluated with the instrument. The structure of the questionnaire was assessed by means of factor analysis.

RNAi of ace1 and ace2 in Blattella germanica reveals their differential contribution to acetylcholinesterase activity and sensitivity to insecticides.

Cyclorrhapha insect genomes contain a single acetylcholinesterase (AChE) gene while other insects contain at least two ace genes (ace1 and ace2). In this study we tested the hypothesis that the two ace paralogous from Blattella germanica have different contributions to AChE activity, using RNA interference (RNAi) to knockdown each one individually. Paralogous-specific depletion of Bgace transcripts was evident in ganglia of injected cockroaches, although the effects at the protein level were less pronounced.

Transcriptional changes and oxidative stress associated with the synergistic interaction between Potato virus X and Potato virus Y and their relationship with symptom expression.

Many virus diseases of economic importance to agriculture result from mixtures of different pathogens invading the host at a given time. This contrasts with the relatively scarce studies available on the molecular events associated with virus-host interactions in mixed infections. Compared with single infections, co-infection of Nicotiana benthamiana with Potato virus X (PVX) and Potato virus Y (PVY) resulted in increased systemic symptoms (synergism) that led to necrosis of the newly emerging leaves and death of the plant.

Helper component mutations in nonconserved residues associated with aphid transmission efficiency of a pepper isolate of potato virus y.

ABSTRACT The aphid transmission properties of a pepper isolate of potato virus Y belonging to the pathotype 1-2 (PVY 1-2) have been characterized. PVY 1-2 was not transmitted in plant-to-plant experiments, although purified virus particles were efficiently transmitted when supplemented with heterologous helper component (HC) of the transmissible isolate PVY 0 AT through membrane acquisition assays, indicating that its coat protein was functional in transmission. Additionally, virions of PVY 1-2 were able to bind to different HCs in in vitro binding assays.

A Single Amino Acid Mutation in the Plum pox virus Helper Component-Proteinase Gene Abolishes Both Synergistic and RNA Silencing Suppression Activities.

ABSTRACT The effects on symptom expression of single amino acid mutations in the central region of the Plum pox virus (PPV) helper component-proteinase (HC-Pro) gene were analyzed in Nicotiana benthamiana using Potato virus X (PVX) recombinant viruses. PVX recombinant virus expressing the wild-type variant of PPV HC-Pro induced the expected enhancement of PVX pathogenicity, manifested as necrosis and plant death. Recombinant virus expressing a variant of PPV HC-Pro containing a single point mutation ( HCL(134)H) was unable to induce this synergistic phenotype.

Natural evolution of carpal tunnel syndrome in untreated patients.

Objective: To describe the clinical and electrophysiological evolution of a group of patients diagnosed with carpal tunnel syndrome (CTS) who have not undergone any type of treatment (injections, braces or surgery).

Methods: Clinical and electrophysiological monitoring was done consecutively in a series of patients who were admitted with a diagnosis of CTS. The average time for follow-up was 2 years.

Transient expression of homologous hairpin RNA interferes with PVY transmission by aphids.

Hairpin RNAs have been used to confer resistance to viruses in plants through RNA silencing. However, it has not been demonstrated that RNA silencing was effective against inoculation by aphids of non-persistently transmitted viruses, the major route of plant virus spread in nature. As a proof-of-principle strategy, we made use of Agrobacterium tumefaciens to transiently express a hairpin RNA homologous to Potato virus Y (PVY) in plant tissues.

[Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset].

We present the case of a 4-day-old newborn with serious dehydration, polypnea, hypertonus and lethargy. Blood analysis showed severe metabolic acidosis with ketonemia, ketonuria and elevation of the GAP anion. Urine analysis revealed increased excretion of 2-methyl-3-hydroxybutyrate acid, tiglycine, and 2-methylacetoacetate acid.

[Uncommon localization of osteomyelitis].

Group A beta-hemolytic streptococcus (GAS) causes almost 10% of acute hematogenous osteomyelitis (AHOM). These entities are frequently located in long bones (femur, tibia and humerus), and only 6-8% of all AHOM are located in the pelvis. This uncommon localization delays diagnosis and can lead to inappropriate management, with negative effects on outcomes.

Motor recovery after Guillain-Barré syndrome in childhood.

Purpose: To determine the clinical factors that modify the recovery time for gait after Guillain-Barré syndrome (GBS) in childhood.

Method: Medical records of patients admitted to Instituto de Ortopedia Infantil Roosevelt (IOIR) between years 1991 and 2001, were reviewed. Age, sex, cranial nerve impairment, requirement of assisted ventilation, number of days of assisted ventilation, muscular strength at day 10 of the disease, presence of quadriplegia, intravenous infusion of human gamma globulins (IVIG), were taken as independent variables.