Impact of information technology supported serious leisure gardening on the wellbeing of older adults: The Turntable project.

OBJECTIVE: The study presented in this paper aimed to assess the effect of an Information Technology enabled community gardening program for older adults, developed by an international consortium. METHODS: We have executed a quantitative, pre- and post-test field trial with older adult volunteers to test the proposed programme in two European countries, Italy and Belgium (n=98). We used standardized and ad hoc questionnaires to measure changes in the volunteers' mental and psychological state during the trial. The statistical data analysis sought for differences in the pre- and post-test values of the key scores related to the perceived quality of life and benefits of gardening via paired-samples t-tests, and also tried to identify the important factors of significant changes via logistic regression. RESULTS: We found significant improvements in the perceived benefits of gardening and also in the scores computed from the WHO Quality of Life instruments, especially in the social sub-domains. The improvements were associated with the country, age, marital state and education of the volunteers. Higher age or being widow, divorced or single increased the odds of a significant improvement in the scores in more than one sub-domains. CONCLUSION: Though the two trial settings were different in some aspects, the observed significant improvements generally confirmed the positive effects of gardening concerning the perceived quality of life and benefits of gardening.

Hematological phenotypes in children according to the α-globin genotypes.

Limited information is available on the hematological characterization of the α-thalassemia carrier in pediatric age. The objective of this report was to evaluate the red cell indices according to the α-globin genotype in a cohort of children evaluated in Sardinia. Moreover, we verified the frequency of different α-globin genotypes in this cohort. A total of 453 subjects were investigated for hematological indices and for the most common α-globin defects present in Sardinia. Of them, 352 with HbA2≤3.2%, and no iron deficiency anemia were taken into consideration to evaluate the red cell indices according to the α-globin genotype in pediatric age. A total of 11 different α-genotypes were detected, confirming the wide heterogeneity of α-thalassemia in Sardinia. Moreover, our results showed that the hematological parameters in normal children may be conditioned by the clinically occult coinheritance of mild α-thalassemia alleles as already described in the adult population while microcytosis and hypocromia in children without iron deficiency should suggest the coexistence of two α-globin defects. We concluded that recognizing the α-globin gene mutations for a particular population with their particular red cell indices may help pediatricians to perform a correct diagnosis distinguishing among physiological and pathological types of microcytosis and hypocromia.

Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia.

α-Thalassemia commonly results from deletions or point mutations in one or both α-globin genes located on chromosome 16p13.3 giving rise to complex and variable genotypes and phenotypes. Rarely, unusual non-deletion defects or atypical deletions down-regulate the expression of the α-globin gene. In the last decade of the program for ß-thalassemia carrier screening and genetic counseling in Sardinia, the association of new techniques of molecular biology such as gene sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) to conventional methods has allowed to better define several thalassemic genotypes and the complex variability of the α-cluster with its flanking regions, with a high frequency of different genotypes and compound heterozygosity for two α mutations even in the same family. The exact molecular definition of the genotypes resulting from the interactions among the large number of α-thalassemia determinants and with ß-thalassemia, is important for a correct correlation of genotype-phenotype and to prevent underdiagnosis of carrier status which could hamper the effectiveness of a screening program particularly in those regions where a high frequency of hemoglobinopathies is present.

First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.

Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion of a threonine residue at codon 39 of the α1-globin chain. Usually asymptomatic or with minimal hematological abnormalities in the heterozygous state, Hb Taybe becomes clinically evident in compound heterozygosity with α-thalassemia (α-thal) or in homozygous patients. To date, Hb Taybe has been described in Israeli-Arab and Greek individuals. We report, for the first time, a patient with chronic hemolytic anemia due to the presence of Hb Taybe in trans to the α2 initiation codon mutation ATG>ACG in an Italian child. Hb Taybe was not evident at Hb analysis with cellulose acetate electrophoresis and high performance liquid chromatography (HPLC). Globin biosynthetic studies revealed an α/ß-globin ratio in the range of ß-thal trait. Consequently, an investigation of the α- and ß-globin genes was requested in order to avoid missing any rare globin chain variant and to offer accurate genetic counseling.

Design and Usability Assessment of a Multi-Device SOA-Based Telecare Framework for the Elderly.

Telemonitoring is a branch of telehealth that aims at remotely monitoring vital signs, which is important for chronically ill patients and the elderly living alone. The available standalone devices and applications for the self-monitoring of health parameters largely suffer from interoperability problems; meanwhile, telemonitoring medical devices are expensive, self-contained, and are not integrated into user-friendly technological platforms for the end user. This paper presents the technical aspects and usability assessment of the telemonitoring features of the HEREiAM platform, which supports heterogeneous information technology systems. By exploiting a service-oriented architecture, the measured parameters collected by off-the-shelf Bluetooth medical devices are sent as XML documents to a private cloud that implements an interoperable health service infrastructure, which is compliant with the most recent healthcare standards and security protocols. This Android-based system is designed to be accessible both via TV and portable devices, and includes other utilities designed to support the elderly living alone. Four usability assessment sessions with quality-validated questionnaires were performed to accurately understand the ease of use, usefulness, acceptance, and quality of the proposed system. The results reveal that our system achieved very high usability scores even at its first use, and the scores did not significantly change over time during a field trial that lasted for four months, reinforcing the idea of an intuitive design. At the end of such a trial, the user-experience questionnaire achieved excellent scores in all aspects with respect to the benchmark. Good results were also reported by general practitioners who assessed the quality of their remote interfaces for telemonitoring.

Association of α globin gene quadruplication and heterozygous ß thalassemia in patients with thalassemia intermedia.

Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent beta-thalassemia) unlinked to the beta cluster interacting with the heterozygous beta thalassemia, was previously postulated in these families. Analysis of the alpha globin gene cluster with PCR-based methods (MLPA, GAP-PCR, digestion with restriction enzymes) detected complex rearrangements in the alpha cluster. A duplication of the alpha globin gene locus, including the upstream regulatory region, was present in all the patients, associated in some of them with deletion or non-deletion alpha thalassemia. The variability of the clinical phenotype correlates with the degree of the globin chain imbalance. The presence of alpha globin cluster duplication should be considered in patients heterozygote for beta-thalassemia with thalassemia intermedia phenotype and in the carriers of suspected silent beta thalassemia.

Hypersexual behaviour, frotteurism and delusional jealousy in a young parkinsonian patient during dopaminergic therapy with pergolide: A rare case of iatrogenic paraphilia.

Neuropsychological and psychopathological modifications induced by dopaminergic drugs in patients with Parkinson's disease (PD) are invariably not taken into sufficient consideration by the neurologist. Among the former, modifications of sexual urges and behaviours are of particular importance with regard to severity and variety of clinical pictures. Although rare, such modifications may assume the connotations of an aberrant sexual behaviour with criminal implications, in line with a diagnosis of paraphilia. The authors report the case of a 51-year-old male PD patient who, after a few years of dopaminergic treatment with pergolide, developed a paraphilic disorder, consistent with DSM-IV TR diagnosis of frotteurism, and delusional jealousy. The patient presented mild motor impairment and lack of or negligible cognitive deterioration, thus providing evidence that these disorders are not typical of advanced PD. Pergolide was reduced and quetiapine, an atypical neuroleptic, was introduced with subsequent subsiding of the paraphilic disorder and improvement of delusional jealousy.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.

Genetic architecture of ALS in Sardinia.

Conserved populations, such as Sardinians, displaying elevated rates of familial or sporadic amyotrophic lateral sclerosis (ALS) provide unique information on the genetics of the disease. Our aim was to describe the genetic profile of a consecutive series of ALS patients of Sardinian ancestry. All ALS patients of Sardinian ancestry, identified between 2008 and 2013 through the Italian ALS Genetic Consortium, were eligible to be included in the study. Patients and controls underwent the analysis of TARDBP, C9ORF72, SOD1, and FUS genes. Genetic mutations were identified in 155 out of 375 Sardinian ALS cases (41.3%), more commonly the p.A382T and p.G295S mutations of TARDBP and the GGGGCC hexanucleotide repeat expansion of C9ORF72. One patient had both p.G295S and p.A382T mutations of TARDBP and 8 carried both the heterozygous p.A382T mutation of TARDBP and a repeat expansion of C9ORF72. Patients carrying the p.A382T and the p.G295S mutations of TARDBP and the C9ORF72 repeat expansion shared distinct haplotypes across these loci. Patients with cooccurrence of C9ORF72 and TARDBP p.A382T missense mutation had a significantly lower age at onset and shorter survival. More than 40% of all cases on the island of Sardinia carry a mutation of an ALS-related gene, representing the highest percentage of ALS cases genetically explained outside of Scandinavia. Clinical phenotypes associated with different genetic mutations show some distinctive characteristics, but the heterogeneity between and among families carrying the same mutations implies that ALS manifestation is influenced by other genetic and nongenetic factors.

Sleep-related faciomandibular myoclonus: A sleep-related movement disorder different from bruxism.

We describe a 33-year-old man who presented with lip and tongue nibbling and bleeding during sleep. Videopolysomnography revealed myoclonic jerks involving the masticatory and facial muscles recurring mainly during NREM sleep. There was no tonic EMG masticatory activity typical of bruxism. EMG analysis demonstrated the recruitment of V- to VII innervated muscles and, in half of the episodes, also the sternocleidomastoideus. Our patient had sleep-related faciomandibular myoclonus (SFMM) with spontaneous jerks of oromasticatory and cervical muscles, occurring only during sleep. Tooth grinding, temporomandibular joint pain, abnormal tooth mobility, tooth wear, and other dental problems were clinically absent. We propose that, on the basis of the clinical and EMG features, SFMM may be considered a distinct disorder and different from sleep bruxism.

Augmentation of restless legs syndrome with long-term tramadol treatment.

Restless legs syndrome (RLS) augmentation, defined as a kind of suppression of the circadian rhythm of the disease in which sensory and motor symptoms appear earlier during the day (and over previously unaffected body parts), with a progressive phase advance until, backwards, the symptoms may cover the entire day, has been described only after treatment with dopaminergic drugs. We report clinical and polysomnographic accounts of a patient developing RLS augmentation after long-term treatment with tramadol, an opioid agonist with selectivity for mu-receptor and added norepinephrine and serotonin reuptake inhibition properties. Polysomnographic measures showed an improvement of RLS and a disappearance of diurnal sensory and motor RLS symptoms after tramadol was stopped. Our case confirms a recent retrospective report of augmentation of RLS after treatment with tramadol, and begs the question whether augmentation is truly restricted to dopaminergic drugs.