Advances in Telecare over The Past Ten Years

This article reviews advances during the past decade or so in telecare (ie, computer-supported social care at home). The need for telecare is discussed along with how it relates to social and health care. The expected benefits of telecare are also discussed. The evolution of telecare technology is reviewed, covering various system generations. The capabilities of present day telecare are covered, along with its advantages, limitations, and barriers to uptake. Recent evaluations and exemplars of telecare are discussed. The user requirements for telecare are presented, complemented by a discussion of the issues in user and professional acceptance. The article concludes with a summary of past developments in telecare and the prospects for the future

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions, accompanied by broad inter- and intrafamilial variable expressivity. The most frequent condition is caused by pathogenic (or likely pathogenic) variants in the collagen-IV genes, COL4A3/A4/A5. Pathogenic variants in COL4A5 are responsible for the severe X-linked glomerulopathy, Alport syndrome (AS), while homozygous or compound heterozygous variants in the COL4A3 or the COL4A4 gene cause autosomal recessive AS. AS usually leads to progressive kidney failure before the age of 40-years when left untreated. People who inherit heterozygous COL4A3/A4 variants are at-risk of a slowly progressive form of the disease, starting with microscopic hematuria in early childhood, developing Alport spectrum nephropathy. Sometimes, they are diagnosed with benign familial hematuria, and sometimes with autosomal dominant AS. At diagnosis, they often show thin basement membrane nephropathy, reflecting the uniform thin glomerular basement membrane lesion, inherited as an autosomal dominant condition. On a long follow-up, most patients will retain normal or mildly affected kidney function, while a substantial proportion will develop chronic kidney disease (CKD), even kidney failure at an average age of 55-years. A question that remains unanswered is how to distinguish those patients with AS or with heterozygous COL4A3/A4 variants who will manifest a more aggressive kidney function decline, requiring prompt medical intervention. The hypothesis that a subgroup of patients coinherit additional genetic modifiers that exacerbate their clinical course has been investigated by several researchers. Here, we review all publications that describe the potential role of candidate genetic modifiers in patients and include a summary of studies in AS mouse models

Gravitational Microlensing Evidence for a Planet Orbiting a Binary Star System

The study of extra-solar planetary systems has emerged as a new discipline of observational astronomy in the past few years with the discovery of a number of extra-solar planets. The properties of most of these extra-solar planets were not anticipated by theoretical work on the formation of planetary systems. Here we report observations and light curve modeling of gravitational microlensing event MACHO-97-BLG-41, which indicates that the lens system consists of a planet orbiting a binary star system. According to this model, the mass ratio of the binary star system is 3.8:1 and the stars are most likely to be a late K dwarf and an M dwarf with a separation of about 1.8 AU. A planet of about 3 Jupiter masses orbits this system at a distance of about 7 AU. If our interpretation of this light curve is correct, it represents the first discovery of a planet orbiting a binary star system and the first detection of a Jovian planet via the gravitational microlensing technique. It suggests that giant planets may be common in short period binary star systems.Comment: 11 pages, with 1 color and 2 b/w Figures included (published version

The nature of the high Galactic latitude O-star HD93521: new results from X-ray and optical spectroscopy

Owing to its unusual location and its isolation, the nature of the high Galactic latitude O9.5Vp object HD93521 is still uncertain. We have collected X-ray and optical observations to characterize the star and its surroundings. X-ray images and spectra are analyzed to search for traces of a recent star formation event around HD93521 and to search for the signature of a possible compact companion. Optical echelle spectra are analysed with plane-parallel model atmosphere codes, assuming either a spherical star or a gravity darkened rotationally flattened star, to infer the effective temperature and surface gravity, and to derive the He, C, N and O abundances of HD93521. The X-ray images reveal no traces of a population of young low-mass stars coeval with HD93521. The X-ray spectrum of HD93521 is consistent with a normal late O-type star although with subsolar metallicity. No trace of a compact companion is found in the X-ray data. In the optical spectrum, He and N are found to be overabundant, in line with the effect of rotational mixing in this very fast rotator, whilst C and O are subsolar. A critical comparison with the properties of subdwarf OB stars, indicates that, despite some apparent similarities, HD93521 does not belong to this category. Despite some ambiguities on the runaway status of the star, the most likely explanation is that HD93521 is a Population I massive O-type star that was ejected from the Galactic plane either through dynamical interactions or a result of a supernova event in a binary system.Comment: Accepted for publication in Astronomy & Astrophysic

The Orbital Solution and Spectral Classification of the High-Mass X-Ray Binary IGR J01054-7253 in the Small Magellanic Cloud

We present X-ray and optical data on the Be/X-ray binary (BeXRB) pulsar IGR J01054-7253 = SXP11.5 in the Small Magellanic Cloud (SMC). Rossi X-ray Timing Explorer (RXTE) observations of this source in a large X-ray outburst reveal an 11.483 +/- 0.002s pulse period and show both the accretion driven spin-up of the neutron star and the motion of the neutron star around the companion through Doppler shifting of the spin period. Model fits to these data suggest an orbital period of 36.3 +/- 0.4d and Pdot of (4.7 +/- 0.3) x 10^{-10} ss^{-1}. We present an orbital solution for this system, making it one of the best described BeXRB systems in the SMC. The observed pulse period, spin-up and X-ray luminosity of SXP11.5 in this outburst are found to agree with the predictions of neutron star accretion theory. Timing analysis of the long-term optical light curve reveals a periodicity of 36.70 +/- 0.03d, in agreement with the orbital period found from the model fit to the X-ray data. Using blue-end spectroscopic observations we determine the spectral type of the counterpart to be O9.5-B0 IV-V. This luminosity class is supported by the observed V-band magnitude. Using optical and near-infrared photometry and spectroscopy, we study the circumstellar environment of the counterpart in the months after the X-ray outburst.Comment: 12 pages, 13 figures and 3 tables. This paper has been accepted for publication in MNRA

Influence of Poor Oral Health on Physical Frailty: A Population-Based Cohort Study of Older British Men.

OBJECTIVES: To investigate the associations between objective and subjective measures of oral health and incident physical frailty. DESIGN: Cross-sectional and longitudinal study with 3 years of follow-up using data from the British Regional Heart Study. SETTING: General practices in 24 British towns. PARTICIPANTS: Community-dwelling men aged 71 to 92 (N = 1,622). MEASUREMENTS: Objective assessments of oral health included tooth count and periodontal disease. Self-reported oral health measures included overall self-rated oral health; dry mouth symptoms; sensitivity to hot, cold, and sweet; and perceived difficulty eating. Frailty was defined using the Fried phenotype as having 3 or more of weight loss, grip strength, exhaustion, slow walking speed, and low physical activity. Incident frailty was assessed after 3 years of follow-up in 2014. RESULTS: Three hundred three (19%) men were frail at baseline (aged 71-92). Having fewer than 21 teeth, complete tooth loss, fair to poor self-rated oral health, difficulty eating, dry mouth, and more oral health problems were associated with greater likelihood of being frail. Of 1,284 men followed for 3 years, 107 (10%) became frail. The risk of incident frailty was higher in participants who were edentulous (odds ratio (OR) = 1.90, 95% confidence interval (CI) = 1.03-3.52); had 3 or more dry mouth symptoms (OR = 2.03, 95% CI = 1.18-3.48); and had 1 (OR = 2.34, 95% CI = 1.18-4.64), 2 (OR = 2.30, 95% CI = 1.09-4.84), or 3 or more (OR = 2.72, 95% CI = 1.11-6.64) oral health problems after adjustment for age, smoking, social class, history of cardiovascular disease or diabetes mellitus, and medications related to dry mouth. CONCLUSION: The presence of oral health problems was associated with greater risks of being frail and developing frailty in older age. The identification and management of poor oral health in older people could be important in preventing frailty

The 2019 and 2021 International Workshops on Alport Syndrome

In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3, COL4A4, and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome

Systematic review and meta-analysis of the associations between body mass index, prostate cancer, advanced prostate cancer, and prostate-specific antigen.

PURPOSE: The relationship between body mass index (BMI) and prostate cancer remains unclear. However, there is an inverse association between BMI and prostate-specific antigen (PSA), used for prostate cancer screening. We conducted this review to estimate the associations between BMI and (1) prostate cancer, (2) advanced prostate cancer, and (3) PSA. METHODS: We searched PubMed and Embase for studies until 02 October 2017 and obtained individual participant data from four studies. In total, 78 studies were identified for the association between BMI and prostate cancer, 21 for BMI and advanced prostate cancer, and 35 for BMI and PSA. We performed random-effects meta-analysis of linear associations of log-PSA and prostate cancer with BMI and, to examine potential non-linearity, of associations between categories of BMI and each outcome. RESULTS: In the meta-analyses with continuous BMI, a 5 kg/m2 increase in BMI was associated with a percentage change in PSA of - 5.88% (95% CI - 6.87 to - 4.87). Using BMI categories, compared to normal weight men the PSA levels of overweight men were 3.43% lower (95% CI - 5.57 to - 1.23), and obese men were 12.9% lower (95% CI - 15.2 to - 10.7). Prostate cancer and advanced prostate cancer analyses showed little or no evidence associations. CONCLUSION: There is little or no evidence of an association between BMI and risk of prostate cancer or advanced prostate cancer, and strong evidence of an inverse and non-linear association between BMI and PSA. The association between BMI and prostate cancer is likely biased if missed diagnoses are not considered

The importance of clinician, patient and researcher collaborations in Alport syndrome

This is a post-peer-review, pre-copyedit version of an article published in Pediatric Nephrology. The final authenticated version is available online at: https://doi.org/10.1007/s00467-019-04241-7Alport syndrome (AS) is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, AS is rare genetic disorder but still accounts for >1% of the prevalent population receiving renal replacement therapy. There is also increasing awareness about the risk of chronic kidney disease in individuals with heterozygous mutations in AS genes. The mainstay of current therapy is the use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, yet potential new therapies are now entering clinical trials. The 2017 International Workshop on Alport Syndrome in Glasgow was a preconference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics, basic science and also incorporated patient perspectives. More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. This report summarises the workshop proceedings and the relevant contemporary literature. It highlights the unique clinician, patient and researcher collaborations achieved by regular engagement between the groups