A Feasibility study of remote consultation to determine suitability for surgery in stroke rehabilitation

We studied knowledge transfer for the determination of the suitability of stroke patients for a specialist surgical procedure (split anterior tibial tendon transfer). Gait analysis data from patients at a general hospital were discussed with an expert in another country using personal computers, an ISDN connection (128 kbit/s) and TCP/IP-based communication tools. The key issue was whether the staff in the general hospital became better able to determine suitability for surgery. Twelve patients were studied. In three of the first four cases the advice of the remote expert changed the plan for surgery. After that the treatment plans did not change after consultation. After eight cases the local clinicians did not need to ask for further advice. There was a rapid increase in skill in determining suitability for surgery. The experience and skills of the local clinicians were thought to increase more rapidly than would have been the case without the consultations with a remote expert

Journal of Inherited Metabolic Disease

Trabalho completo: acesso retrito, p. 732–738The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for noncarriers; there was, however, an overlap between carriers 'and non-carriers' values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations

Quality of life in mucopolysaccharidoses : construction of a specific measure using the focus group technique

Abstract Objective: To describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro). Results: Three versions of the new instrument were developed, each for a different age group: children (age 8–12 years), adolescents (age 13–17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO—World Health Organization) and its facets apply to this patient population. However, other specific facets—particularly concerning clinical manifestations and the reality of the disease— were suggested, confirming the need for the development of a specific QoL instrument for MPS

GBA1 variants in Brazilian Gaucher disease patients

Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients. This study aimed at characterizing the genotype of 72 unrelated Brazilian GD patients (type I = 63, type II = 4, type III = 5; male = 31). Forty patients were from South Brazil (SB), and 32 were from other regions of Brazil (Others). The exons and exon/intron junctions of GBA1 were analyzed by Sanger sequencing in 8 patients, or by massive parallel sequencing followed by Sanger of exons 9 and 10 in 64 patients. In total, 31 pathogenic variants were identified. The most frequent allele found was N370S (p.(Asn409Ser)) (41.0%), and the most frequent genotype was N370S/RecNciI p.[Asn409Ser];[Leu483Pro;Ala495Pro;Val499=](23.6%). Three variants (N370S – in exon 9, and RecNciI and L444P (p.(Leu483Pro), in exon 10) correspond to 76.3% of total alleles in SB and 59.4% in Others. Two novel variants were described: c.326del(p.(Gln109Argfs*9)) and c.690G>A (p.(?)). Although sequencing all the exons of GBA1 is the gold-standard method for the genetic analysis of GD patients, a step analysis can be proposed for Brazilian patients, starting with analysis of exons 9 and 10. The N370S allele is the most frequently associated with GD in Brazil

Behavioural Responses of Western Flower Thrips, Frankliniella occidentalis (Pergande), to Volatiles from Three Aromatic Plants

The behavioural responses of adult female western flower thrips, Frankliniella occidentalis (Pergande) to volatiles from meadow-sweet (Filipendula ulmaria), bay laurel (Laurus nobilis) and sage (Salvia officinalis) were investigated in laboratory bioassays. Volatiles collected by entrainment of a solvent extract of F. ulmaria were more attractive than was the original extract. Frankliniella occidentalis was also significantly attracted to volatiles from L. nobilis and S. officinalis. Analysis by gas chromatography and mass spectrometry identified 1,8-cineole (eucalyptol) as one of the main volatile components of all three plant species. In coupled gas chromatography-electroantennography studies with F. ulmaria, both 1,8-cineole and methyl salicylate elicited responses from F. occidentalis. Eucarvone was identified as the major component of F. ulmaria volatiles, but showed no electrophysiological activity. Behavioural responses of thrips to a range of concentrations of 1,8-cineole and methyl salicylate were tested using a modified Pettersson 'star' olfactometer. 1,8-cineole showed some attractant activity for the thrips at 0.01 mg, but methyl salicylate was repellent at all the concentrations tested. RÉSUMÉ La réponse comportementale de femelles adultes de thrips (Frankliniella occidentalis) aux émissions volatiles de trois plantes aromatiques, la filipendule (Filipendula ulmaria), le laurier-sauce (Laurus nobilis) et la sauge (Salvia officinalis), a été étudiée dans des essais au laboratoire. Les produits volatils obtenus par collecte d'effluves d'un extrait par solvant de F. ulmaria se sont montrés plus attractifs que l'extrait original. Frankliniella occidentalis a aussi été attiré significativement par les émissions volatiles de L. nobilis et S. officinalis. Des analyses par chromatographie en phase gazeuse et spectrométrie de masse ont permis d'identifier le 1,8-cineole (eucalyptol) comme l'un des composés volatils majeurs des trois espèces végétales. Dans des études par couplage chromatographie en phase gazeuse-électroantennographie, avec un extrait de F. ulmaria, le 1,8-cineole et le methyl salicylate ont tous deux induit des réponses chez F. occidentalis. L'eucarvone a été identifié comme le composé majoritaire des émissions volatiles de F. ulmaria, mais n'a induit aucune activité électrophysiologique. Les réponses comportementales des thrips à une gamme de concentrations de 1,8-cineole et de methyl salicylate ont été évaluées dans un olfactomètre de Pettersson modifé. Le 1,8-cineole a induit une certaine attraction chez les thrips à la concentration de 0,01 mg, mais le methyl salicylate a été répulsif à toutes les concentrations testées

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma : update on GNPTAB and GNPTG mutations

Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. GNPTAB and GNPTG encode the α/β‐precursor and the γ‐subunit of N‐acetylglucosamine (GlcNAc)‐1‐phosphotransferase, respectively, the key enzyme for the generation of mannose 6‐phosphate targeting signals on lysosomal enzymes. Defective GlcNAc‐1‐phosphotransferase results in missorting of lysosomal enzymes and accumulation of non‐degradable macromolecules in lysosomes, strongly impairing cellular function. MLII‐affected patients have coarse facial features, cessation of statural growth and neuromotor development, severe skeletal abnormalities, organomegaly, and cardiorespiratory insufficiency leading to death in early childhood. MLIII alpha/beta and MLIII gamma are attenuated forms of the disease. Since the identification of the GNPTAB and GNPTG genes, 564 individuals affected by MLII or MLIII have been described in the literature. In this report, we provide an overview on 258 and 50 mutations in GNPTAB and GNPTG, respectively, including 58 novel GNPTAB and seven novel GNPTG variants. Comprehensive functional studies of GNPTAB missense mutations did not only gain insights into the composition and function of the GlcNAc‐1‐phosphotransferase, but also helped to define genotype‐phenotype correlations to predict the clinical outcome in patients