Testing for HFE-related haemochromatosis

HFE-haemochromatosis is a genetic disorder resulting from mutations of the HFE gene. It primarily affects people of Northern European descent. Clinical manifestations result from the progressive deposition of iron into various organs including the liver. An elevated serum ferritin concentration greater than 300 microgram/L and a transferrin saturation of greater than 45% will identify almost all patients with HFE-haemochromatosis. HFE genotyping confirms the diagnosis. In some patients, liver biopsy may still be necessary as the degree of hepatic fibrosis has prognostic implications

1963

Trees for a Beautiful Golf Course by Philip Scott (page 1) The Golf Course\u27s Worst Enemy by Charles Amorim and Hal Haskell (2) Message from the President by James f. Gilligan (2) Turf Management Club News (3) Quotes from 1962 Freshman (4) When I consider How my Night is Spent Leonard Mailloux(5) Protection of a Golf Course by Pay Lucas Jr. (6) Safety - The Superintendents\u27 Responsibility by Gerald Peters (7) Picture - Senior Stockbridge Turf Majors (8) Picture - Freshmen Stockbridge Turf Majors (9) Kansas - In the Transition Zone by Carl Beer (10 Seeds by Don Daigle (11) Picture - Dean F. P. Jeffrey, Dr. W.G. Colby and Director J. R. Beattie (12) Picture - Graduates of Winter School for Turf Managers - 1963 (13) The Effect of Last Year\u27s Weather Upon This Year\u27s Incidence of Turf Insects by John C. Schread (A-1) Labor-Management Relations by Mortimer H. Gavin S.J. (A-4) Massachusetts Labor Laws by Andrew C. SInclair (A-7) Golf Course Budget by John Espey (A-10) Golf Course Budgets by Robert St. Thomas (A-12) Purpose & Method of Budgeting by Leon St. Pierre (A-13) The Committee Chairman, His Duties by Charles Connelly (A-16) Long-range vs. Short-range Planning by George Farber (A-18) The Golf Course Superintendent, His Duties by Sherwood Moore (A-20) The Budget by Leo Kowalski (A-25) Public Relations by Leon St. Pierre (A-26) A Study of WIlt by Harry Meusal (A-28) Specifications for a Method of Putting Green Construction by Alexander Radko (A-33) Management of Kentucky Bluegrass & Grass Mixtures for Turf by F.V. Juska (A-38) What\u27s New in Fertilizers by Geoffrey S. Cornish (A-40) Methylene Ureas by Harvey Stangel (A-42) Plastic Coated Fertilizers by Louis I. Hansen (A-44) The Role of Sewage Sludge by James Latham Jr. (A-49) The Role of Ureaforms in the Turf Fertilizer Industry by Robert T. Miller (A-51) Why Low Phosphorus & Higher Potassium by L. J. Sullivan (A-55) Uptake of Potassium by Evangel Bredakis (A-59) Responsibility of Industry & Community in Land Usage & Plantings by Joseph L. Beasley (A-61) Turf & Other Planting Problems by H. Thurston Handley Jr. (A-65) Weeds & Diseases by Dominic Marini (A-67) General Maintenacne & Equipment by Lewis Hodgkinson (A-68) Fertilizer Problems by William J. Bennett (A-70) Lawn Construction & Insect Problems by herbert C. Fordham (A-71

Stereological analysis of liver biopsy histology sections as a reference standard for validating non-invasive liver fat fraction measurements by MRI

© 2016 St. Pierre et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Background and Aims: Validation of non-invasive methods of liver fat quantification requires a reference standard. However, using standard histopathology assessment of liver biopsies is problematical because of poor repeatability. We aimed to assess a stereological method of measuring volumetric liver fat fraction (VLFF) in liver biopsies and to use the method to validate a magnetic resonance imaging method for measurement of VLFF. Methods: VLFFs were measured in 59 subjects (1) by three independent analysts using a stereological point counting technique combined with the Delesse principle on liver biopsy histological sections and (2) by three independent analysts using the HepaFat-Scan® technique on magnetic resonance images of the liver. Bland Altman statistics and intraclass correlation (IC) were used to assess the repeatability of each method and the bias between the methods of liver fat fraction measurement. Results: Inter-analyst repeatability coefficients for the stereology and HepaFat-Scan® methods were 8.2 (95% CI 7.7-8.8)% and 2.4 (95% CI 2.2-2.5)% VLFF respectively. IC coefficients were 0.86 (95% CI 0.69-0.93) and 0.990 (95% CI 0.985-0.994) respectively. Small biases (=3.4%) were observable between two pairs of analysts using stereology while no significant biases were observable between any of the three pairs of analysts using Hepa-Fat-Scan®. A bias of 1.4±0.5% VLFF was observed between the HepaFat-Scan® method and the stereological method. Conclusions: Repeatability of the stereological method is superior to the previously reported performance of assessment of hepatic steatosis by histopathologists and is a suitable reference standard for validating non-invasive methods of measurement of VLFF

Polyurethane scaffold with in situ swelling capacity for nucleus pulposus replacement

Nucleus pulposus (NP) replacement offers a minimally invasive alternative to spinal fusion or total disc replacement for the treatment of intervertebral disc (IVD) degeneration. This study aimed to develop a cytocompatible {NP} replacement material, which is feasible for non-invasive delivery and tunable design, and allows immediate mechanical restoration of the IVD. A bi-phasic polyurethane scaffold was fabricated consisting of a core material with rapid swelling property and a flexible electrospun envelope. The scaffold was assessed in a bovine whole {IVD} organ culture model under dynamic load for 14 days. Nucleotomy was achieved by incision through the endplate without damaging the annulus fibrosus. After implantation of the scaffold and in situ swelling, the dynamic compressive stiffness and disc height were restored immediately. The scaffold also showed favorable cytocompatibility for native disc cells. Implantation of the scaffold in a partially nucleotomized {IVD} down-regulated catabolic gene expression, increased proteoglycan and type {II} collagen intensity and decreased type I collagen intensity in remaining {NP} tissue, indicating potential to retard degeneration and preserve the {IVD} cell phenotype. The scaffold can be delivered in a minimally invasive manner, and the geometry of the scaffold post-hydration is tunable by adjusting the core material, which allows individualized design. Keywords : Intervertebral disc degeneratio

Nomenclature for kidney function and disease: report of a Kidney Disease:Improving Global Outcomes (KDIGO) Consensus Conference

The worldwide burden of kidney disease is rising, but public awareness remains limited, underscoring the need for more effective communication by stakeholders in the kidney health community. Despite this need for clarity, the nomenclature for describing kidney function and disease lacks uniformity. In June 2019, Kidney Disease: Improving Global Outcomes (KDIGO) convened a Consensus Conference with the goal of standardizing and refining the nomenclature used in the English language to describe kidney function and disease, and of developing a glossary that could be used in scientific publications. Guiding principles of the conference were that the revised nomenclature should be patient-centered, precise, and consistent with nomenclature used in the KDIGO guidelines. Conference attendees reached general consensus on the following recommendations: (i) to use "kidney" rather than "renal" or "nephro-" when referring to kidney disease and kidney function; (ii) to use "kidney failure" with appropriate descriptions of presence or absence of symptoms, signs, and treatment, rather than "end-stage kidney disease"; (iii) to use the KDIGO definition and classification of acute kidney diseases and disorders (AKD) and acute kidney injury (AKI), rather than alternative descriptions, to define and classify severity of AKD and AKI; (iv) to use the KDIGO definition and classification of chronic kidney disease (CKD) rather than alternative descriptions to define and classify severity of CKD; and (v) to use specific kidney measures, such as albuminuria or decreased glomerular filtration rate (GFR), rather than "abnormal" or "reduced" kidney function to describe alterations in kidney structure and function. A proposed 5-part glossary contains specific items for which there was general agreement. Conference attendees acknowledged limitations of the recommendations and glossary, but they considered standardization of scientific nomenclature to be essential for improving communication

Social Anxiety Modulates Subliminal Affective Priming

BACKGROUND: It is well established that there is anxiety-related variation between observers in the very earliest, pre-attentive stage of visual processing of images such as emotionally expressive faces, often leading to enhanced attention to threat in a variety of disorders and traits. Whether there is also variation in early-stage affective (i.e. valenced) responses resulting from such images, however, is not yet known. The present study used the subliminal affective priming paradigm to investigate whether people varying in trait social anxiety also differ in their affective responses to very briefly presented, emotionally expressive face images. METHODOLOGY/PRINCIPAL FINDINGS: Participants (n = 67) completed a subliminal affective priming task, in which briefly presented and smiling, neutral and angry faces were shown for 10 ms durations (below objective and subjective thresholds for visual discrimination), and immediately followed by a randomly selected Chinese character mask (2000 ms). Ratings of participants' liking for each Chinese character indicated the degree of valenced affective response made to the unseen emotive images. Participants' ratings of their liking for the Chinese characters were significantly influenced by the type of face image preceding them, with smiling faces generating more positive ratings than neutral and angry ones (F(2,128) = 3.107, p<0.05). Self-reported social anxiety was positively correlated with ratings of smiling relative to neutral-face primed characters (Pearson's r = .323, p<0.01). Individual variation in self-reported mood awareness was not associated with ratings. CONCLUSIONS: Trait social anxiety is associated with individual variation in affective responding, even in response to the earliest, pre-attentive stage of visual image processing. However, the fact that these priming effects are limited to smiling and not angry (i.e. threatening) images leads us to propose that the pre-attentive processes involved in generating the subliminal affective priming effect may be different from those that generate attentional biases in anxious individuals

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468). We observed a genome-wide significant effect (p <1 x 10(-8)) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 x 10(-9)), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 x 10(-8)). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 x 10(-8)) and with all the cognitive traits tested (p = 3.07 x 10(-8)), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p similar to [10(-5)-10(-7)]) and negatively associated with ADHD PRS (p similar to [10(-8)-10(-17)]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.Peer reviewe

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468). We observed a genome-wide significant effect (p < 1 x 10(-8)) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene;rs17663182 p = 4.73 x 10(-9)), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter;rs16928927, p = 2.25 x 10(-8)). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 x 10(-8)) and with all the cognitive traits tested (p = 3.07 x 10(-8)), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p similar to [10(-5)-10(-7)]) and negatively associated with ADHD PRS (p similar to [10(-8)-10(-17)]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

BACKGROUND: A new locus for amyotrophic lateral sclerosis – frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p. METHODS: We identified chromosome 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) and undertook mutational screening of candidate genes within this locus. RESULTS: Candidate gene sequencing at this locus revealed the presence of a disease segregating stop mutation (Q342X) in the intraflagellar transport 74 (IFT74) gene in family 476 (F476), but no mutation was detected within IFT74 in family 2 (F2). While neither family was sufficiently informative to definitively implicate or exclude IFT74 mutations as a cause of chromosome 9-linked ALS-FTD, the nature of the mutation observed within F476 (predicted to truncate the protein by 258 amino acids) led us to sequence the open reading frame of this gene in a large number of ALS and FTD cases (n = 420). An additional sequence variant (G58D) was found in a case of sporadic semantic dementia. I55L sequence variants were found in three other unrelated affected individuals, but this was also found in a single individual among 800 Human Diversity Gene Panel samples. CONCLUSION: Confirmation of the pathogenicity of IFT74 sequence variants will require screening of other chromosome 9p-linked families

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40-60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p <2.8 x 10(-6)) enrichment of associations at the gene level, forLOC388780(20p13; uncharacterized gene), and forVEPH1(3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20-25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (atp(T) = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase;p = 8 x 10(-13)), bipolar disorder (1.53[1.44; 1.63];p = 1 x 10(-43)), schizophrenia (1.36[1.28; 1.45];p = 4 x 10(-22)), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30];p = 3 x 10(-12)), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96];p = 5 x 10(-4)), educational attainment (0.86[0.82; 0.91];p = 2 x 10(-7)), and intelligence (0.72[0.68; 0.76];p = 9 x 10(-29)). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.Peer reviewe