A national scale inventory of resource provision for biodiversity within domestic gardens

The human population is increasingly disconnected from nature due to urbanisation. To counteract this phenomenon, the UK government has been actively promoting wildlife gardening. However, the extent to which such activities are conducted and the level of resource provision for biodiversity (e.g., food and nesting sites) within domestic gardens remains poorly documented. Here we generate estimates for a selection of key resources provided within gardens at a national scale, using 12 survey datasets gathered across the UK. We estimate that 22.7 million households (87% of homes) have access to a garden. Average garden SiZe is 190 m(2), extrapolating to a total area of 432,924 ha. Although substantial, this coverage is still an order of magnitude less than that of statutory protected areas. Approximately 12.6 million (48%) households provide supplementary food for birds, 7.4 million of which specifically use bird feeders. Similarly, there are a minimum of 4.7 million nest boxes within gardens. These figures equate to one bird feeder for every nine potentially feeder-using birds in the UK, and at least one nest box for every six breeding pairs of cavity nesting birds. Gardens also contain 2.5-3.5 million ponds and 28.7 million trees, which is just under a quarter of all trees occurring outside woodlands. Ongoing urbanisation, characterised by increased housing densities, is inevitable throughout the UK and elsewhere. The important contribution domestic gardens make to the green space infrastructure in residential areas must be acknowledged, as their reduction will impact biodiversity conservation, ecosystem services, and the well-being of the human population

Risperidone-induced psychosis and depression in a child with a mitochondrial disorder

OBJECTIVE: To our knowledge, this is the first published case report of an adolescent girl with a mitochondrial disorder and depression who displayed both new-onset psychotic and increased mood symptoms during treatment with risperidone. DATA: A 16-year-old girl was treated with risperidone for mood lability and impulsivity at a community hospital. Within days, she developed paranoid ideation, profound psychomotor retardation, increased depression, and fatigue. She was transferred to an inpatient psychiatric hospital, where she was taken off risperidone. Within 48 hours after discontinuation of the medication, she had complete resolution of psychotic symptoms, fatigue, and psychomotor retardation, and her depression improved. CONCLUSIONS: This observation of on-off risperidone treatment suggests that risperidone may have worsened both psychiatric and physical manifestations of the mitochondrial disorder in this adolescent. These findings are consistent with recent in vitro literature, which implicate a series of neuroleptic medications with mitochondrial dysfunction. Furthermore, the authors provide diagnostic and treatment options that are available for mitochondrial disorders, which are of interest to child psychiatrists due to the central nervous system manifestations of these disorders

American Home Economics Association Convention

Eleven hundred home economics workers made the pilgrimage to Ashville, North Carolina in June to attend the 20th annual meeting of the American Home Economics Association. Something less than that number attended all of the meetings for the lure of the beautiful country made truants of some of the most ardent of the pilgrims

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with Perrault syndrome (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss, and ataxia. Case presentation: An adult male presented with cerebellar ataxia, peripheral neuropathy, hearing loss, and azoospermia. The clinical presentation, in combination with biochemical findings in serum, urine, and muscle biopsy, suggested a mitochondrial disorder. Commercial genetic testing of 18 ataxia and mitochondrial disease genes was negative. Targeted exome sequencing followed by analysis of single nucleotide variants and small insertions/deletions failed to reveal a genetic basis of disease. Application of a computational algorithm to infer copy number variants (CNVs) from exome data revealed a heterozygous 12 kb deletion of exons 10–13 of HSD17B4 that was compounded with a rare missense variant (p.A196V) at a highly conserved residue. Retrospective review of patient records revealed mildly elevated ratios of pristanic:phytanic acid and arachidonic:docosahexaenoic acid, consistent with dysfunctional peroxisomal fatty acid oxidation. Conclusion: Our case expands the phenotypic spectrum of HSD17B4-deficiency, representing the first male case reported with infertility. Furthermore, it points to crosstalk between mitochondria and peroxisomes in HSD17B4-deficiency and Perrault syndrome

Novel recruitment strategy to enrich for LRRK2 mutation carriers

The LRRK2 G2019S mutation is found at higher frequency among Parkinson disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet-based approach could be an effective approach to screen and identify mutation carriers. Individuals with and without PD of AJ ancestry were recruited and consented through an internet-based study website. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation. About 1000 individuals completed the initial screening. Around 741 qualified for mutation testing and 650 were tested. Seventy-two individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first-degree relative increased the likelihood the individual was LRRK2+ [OR = 4.7; 95% confidence interval = (2.4–9.0)]. The same was not observed among the unaffected AJ subjects (P = 0.11). An internet-based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies

Evolution and comparative analysis of the MHC Class III inflammatory region

BACKGROUND: The Major Histocompatibility Complex (MHC) is essential for immune function. Historically, it has been subdivided into three regions (Class I, II, and III), but a cluster of functionally related genes within the Class III region has also been referred to as the Class IV region or "inflammatory region". This group of genes is involved in the inflammatory response, and includes members of the tumour necrosis family. Here we report the sequencing, annotation and comparative analysis of a tammar wallaby BAC containing the inflammatory region. We also discuss the extent of sequence conservation across the entire region and identify elements conserved in evolution. RESULTS: Fourteen Class III genes from the tammar wallaby inflammatory region were characterised and compared to their orthologues in other vertebrates. The organisation and sequence of genes in the inflammatory region of both the wallaby and South American opossum are highly conserved compared to known genes from eutherian ("placental") mammals. Some minor differences separate the two marsupial species. Eight genes within the inflammatory region have remained tightly clustered for at least 360 million years, predating the divergence of the amphibian lineage. Analysis of sequence conservation identified 354 elements that are conserved. These range in size from 7 to 431 bases and cover 15.6% of the inflammatory region, representing approximately a 4-fold increase compared to the average for vertebrate genomes. About 5.5% of this conserved sequence is marsupial-specific, including three cases of marsupial-specific repeats. Highly Conserved Elements were also characterised. CONCLUSION: Using comparative analysis, we show that a cluster of MHC genes involved in inflammation, including TNF, LTA (or its putative teleost homolog TNF-N), APOM, and BAT3 have remained together for over 450 million years, predating the divergence of mammals from fish. The observed enrichment in conserved sequences within the inflammatory region suggests conservation at the transcriptional regulatory level, in addition to the functional level

Audiologic Features of Norrie Disease

Artículo científico -- Instituto de Investigaciones en Salud. 2005Objectives: Norrie disease is an X-linked recessive disorder in which patients are born blind and develop sensory hearing loss in adolescence. The hearing loss associated with Norrie disease has been shown in a genetically altered knockout mouse to involve dysfunction of the stria vascularis; most other structures are preserved until the later stages of the disease. The objective of this study was to characterize the audiologic phenotype of Nark disease for comparison with the pathophysiologic mechanism. Methods: The design combined two series of clinical audiologic evaluations, with special attention to speech intelligibility. Results: The audiologic results for 12 affected individuals and 10 carriers show that patients with Norrie disease retain high speech intelligibility scores even when the threshold loss is severe. Conclusions: The cochlear mechanism — failure of the stria vascularis — accounts for some of the higher values in the wide distribution of speech scores in cases with similar pure tone and iograms.Universidad de Costa Rica, Instituto de Investigaciones en SaludUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA

Glutamate recognition sites in human fetal brain

We used in vitro autoradiography with [3H]glutamate to examine the distribution of glutamate recognition sites in 18 and 21 week gestation human fetal brains. We found a wide distribution of [3H]glutamate binding in both specimens, in a pattern distinct from that reported in adult brain using the same autoradiographic methods. In fetal brain, prominent [3H]glutamate binding was evident in hippocampal formation, caudate-putamen, globus pallidus, subthalamic nucleus, reticular nucleus of thalamus and substantia innominata.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/27426/1/0000464.pd

An Appetite to Win: Disordered Eating Behaviours amongst Competitive Cyclists

Competitive cyclists may be vulnerable to disordered eating (DE) and eating disorders (ED) due to perceived body composition optimization and external influences within cycling culture and from stakeholders. Therefore, this study aimed to assess DE and ED risk in competitive cyclists using the Eating Attitudes Test (EAT-26), explore differences in responses based on sex, discipline, and level of competition, and to gain insights into contributing factors towards DE via open-ended survey questions. In total, 203 participants completed a mixed-method questionnaire. Eating disorders were reported by 5.7% (n = 11) of participants, with three being historic cases. The median (inter-quartile range) EAT-26 score was 8 (12) of a total possible score of 78. Disordered eating risk was observed in 16.7% of participants due to an EAT-26 score ≥20. Female participants had significantly higher scores than male participants (12.5 ± 17.5 vs. 6.5 ± 10.0; p = 0.004). There was no significant difference between road cyclists and off-road cyclists (7.0 ± 13.25 vs. 8.0 ± 10.5; p = 0.683). There was a significant difference in scores between novice/club/regional and national/elite/professional cyclists (6.0 ± 11.25 vs. 10.5 ± 12.0; p = 0.007). Thematic analysis of open-text responses found that the social environment of competitive cycling contributed towards DE behaviours and body image issues. These findings indicate competitive cyclists do appear to be an ‘at risk’ population for DE/ED. Therefore, there is need for stakeholders to enhance nutritional services, nutrition education, and create supportive athlete environments