Enterocolitis with fulminate sepsis in a newborn with tricho-hepato-enteric syndrome: A case report

Tricho-hepato-enteric syndrome is a rare autosomal recessive enteropathy that first presents as intractable diarrhea in neonates. Diarrhea persists throughout life and patients are dependent on parenteral nutrition for growth. Additional features include facial dysmorphism, trichorrhexis nodosa (woolly hair), intra-uterine growth restriction, hepatic disease, skin anomalies and a depressed immune system. Tricho-hepato-enteric syndrome is a life limiting disease with variability in its manifestations and severity. Mutations in two different genes, TTC37 or SKIV2L, cause the disorder. In this case report we present a neonate with a novel mutation in TTC37 that resulted in a severe phenotype associated with fulminate sepsis. The infant presented at one week of age with sudden onset of diarrhea and dehydration. Tricho-hepato-enteric syndrome was diagnosed by whole exome sequencing but was not initially considered because the infant lacked many of the diagnostic clinical features. Soon after presentation, the infant developed pneumoperitoneum and necrosis of entire bowel. The blood culture was positive for Clostridium perfringens. Autopsy showed bacteria in the parenchyma and vasculature of all major internal organs as well as within the bone marrow, connective tissue and skeletal muscle but there was minimal inflammatory response. The lack of migration of white blood cells to the sites of infection is likely due to the combined immunodeficiency reported in patients with tricho-hepato-enteric syndrome. This case expands our knowledge on the clinical features of tricho-hepato-enteric syndrome. Whole-exome sequencing was instrumental in making the diagnosis in an infant with an atypical presentation and should be considered early in neonates with congenital diarrhea

High Glucose Alters Fetal Rat Islet Transcriptome and Induces Progeny Islet Dysfunction

Offspring of diabetic mothers are susceptible to developing type 2 diabetes due to pancreatic islet dysfunction. However, the initiating molecular pathways leading to offspring pancreatic islet dysfunction are unknown. We hypothesized that maternal hyperglycemia alters offspring pancreatic islet transcriptome and negatively impacts offspring islet function. We employed an infusion model capable of inducing localized hyperglycemia in fetal rats residing in the left uterine horn, thus avoiding other factors involved in programming offspring pancreatic islet health. While maintaining euglycemia in maternal dams and right uterine horn control fetuses, hyperglycemic fetuses in the left uterine horn had higher serum insulin and pancreatic beta cell area. Upon completing infusion from GD20 to 22, RNA sequencing was performed on GD22 islets to identify the hyperglycemia-induced altered gene expression. Ingenuity pathway analysis of the altered transcriptome found that diabetes mellitus and inflammation/cell death pathways were enriched. Interestingly, the downregulated genes modulate more diverse biological processes, which includes responses to stimuli and developmental processes. Next, we performed ex and in vivo studies to evaluate islet cell viability and insulin secretory function in weanling and adult offspring. Pancreatic islets of weanlings exposed to late gestation hyperglycemia had decreased cell viability in basal state and glucose-induced insulin secretion. Lastly, adult offspring exposed to in utero hyperglycemia also exhibited glucose intolerance and insulin secretory dysfunction. Together, our results demonstrate that late gestational hyperglycemia alters the fetal pancreatic islet transcriptome and increases offspring susceptibility to developing pancreatic islet dysfunction

healthcareCOVID: a national cross-sectional observational study identifying risk factors for developing suspected or confirmed COVID-19 in UK healthcare workers.

To establish the prevalence, risk factors and implications of suspected or confirmed coronavirus disease 2019 (COVID-19) infection among healthcare workers in the United Kingdom (UK). Cross-sectional observational study. UK-based primary and secondary care. Healthcare workers aged ≥18 years working between 1 February and 25 May 2020. A composite endpoint of laboratory-confirmed diagnosis of SARS-CoV-2, or self-isolation or hospitalisation due to suspected or confirmed COVID-19. Of 6,152 eligible responses, the composite endpoint was present in 1,806 (29.4%) healthcare workers, of whom 49 (0.8%) were hospitalised, 459 (7.5%) tested positive for SARS-CoV-2, and 1,776 (28.9%) reported self-isolation. Overall, between 11,870 and 21,158 days of self-isolation were required by the cohort, equalling approximately 71 to 127 working days lost per 1,000 working days. The strongest risk factor associated with the presence of the primary composite endpoint was increasing frequency of contact with suspected or confirmed COVID-19 cases without adequate personal protective equipment (PPE): 'Never' (reference), 'Rarely' (adjusted odds ratio 1.06, (95% confidence interval: [0.87-1.29])), 'Sometimes' (1.7 [1.37-2.10]), 'Often' (1.84 [1.28-2.63]), 'Always' (2.93, [1.75-5.06]). Additionally, several comorbidities (cancer, respiratory disease, and obesity); working in a 'doctors' role; using public transportation for work; regular contact with suspected or confirmed COVID-19 patients; and lack of PPE were also associated with the presence of the primary endpoint. A total of 1,382 (22.5%) healthcare workers reported lacking access to PPE items while having clinical contact with suspected or confirmed COVID-19 cases. Suspected or confirmed COVID-19 was more common in healthcare workers than in the general population and is associated with significant workforce implications. Risk factors included inadequate PPE, which was reported by nearly a quarter of healthcare workers. Governments and policymakers must ensure adequate PPE is available as well as developing strategies to mitigate risk for high-risk healthcare workers during future COVID-19 waves. [Abstract copyright: © 2021 Kua et al.

Early Chinese Trade

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Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program

It has been reported that relaxation techniques can improve physical health and cognitive function. A number of studies involving different types of relaxation practices showed changes in expression of genes. We investigated the gene expression pattern of a cohort of elderly subjects of Asian descent after weekly (for the first three months) and monthly (for the subsequent six months) intervention. Sixty consenting elderly subjects (aged 60–90 years) with mild cognitive impairment were assigned to either the Mindfulness Awareness Practice (MAP) or Health Education Program (HEP) group in a randomized controlled trial to assess the effectiveness of the programs in preventing further cognitive decline and evaluate the influence on neurological, cellular and biochemical factors. Blood samples were collected before the start of intervention and after nine months for gene expression profiling using Affymetrix Human Genome U133 Plus 2.0 arrays. The dataset is publicly available for further analyses

Next-to-Leading Order Constituent Quark Structure and Hadronic Structure Functions

We calculate the partonic structure of a constituent quark in the Next-to-Leading Order framework. The structure of any hadron can be obtained thereafter using a convolution method. Such a procedure is used to generate the structure function of proton and pion in NLO, neglecting certain corrections to $\Lambda_{QCD}$. It is shown that while the constituent quark structure is generated purely perturbatively and accounts for the most part of the hadronic structure, there is a few percent contributions coming from the nonperturbative sector in the hadronic structure. This contribution plays the key role in explaining the SU(2) symmetry breaking of the nucleon sea and the observed violation of Gottfried sum rule. These effects are calculated. We obtained an Excellent agreement with the experimental data in a wide range of $x=[10^{-6}, 1]$ and $Q^{2}=[0.5, 5000]$ $GeV^{2}$ for the proton structure function. We have also calculated Pion structure and compared it with the existing data. Again, the model calculations agree rather well with the data from experiment.Comment: 32 pages,10 figures, Accepted to publish in Phys. Rev.

Wireless body sensor design for intra-vaginal temperature monitoring

Sensor nodes are small devices able to collect and retrieve sensorial data. The use of these sensors for medical purposes offers valuable contributions to improve patients’ healthcare, both for diagnosis and therapeutics monitoring. An important and common parameter used on healthcare diagnosis is the body temperature. It is monitored on several matters related with gynecological and obstetrics issues but, usually it is measure at the skin surface. Then, this paper proposes the design concepts of a new intra-body sensor for long-term intra-vaginal temperature collection. The embedded IEEE 802.15.4 communication module allows the integration of this sensor in wireless sensor networks for remote data access and monitoring. It is presented the sensor architecture, the construction of the corresponding testbed, and its performance evaluation. This sensor may be used on several applications, including fertile and ovulation period detection, and preterm labor prevention

Tea drinking and cognitive function in oldest-old Chinese

10.1007/s12603-012-0077-1The Journal of Nutrition, Health & Aging169754-75

Capturing genomic signatures of DNA sequence variation using a standard anonymous microarray platform

Comparative genomics, using the model organism approach, has provided powerful insights into the structure and evolution of whole genomes. Unfortunately, only a small fraction of Earth's biodiversity will have its genome sequenced in the foreseeable future. Most wild organisms have radically different life histories and evolutionary genomics than current model systems. A novel technique is needed to expand comparative genomics to a wider range of organisms. Here, we describe a novel approach using an anonymous DNA microarray platform that gathers genomic samples of sequence variation from any organism. Oligonucleotide probe sequences placed on a custom 44 K array were 25 bp long and designed using a simple set of criteria to maximize their complexity and dispersion in sequence probability space. Using whole genomic samples from three known genomes (mouse, rat and human) and one unknown (Gonystylus bancanus), we demonstrate and validate its power, reliability, transitivity and sensitivity. Using two separate statistical analyses, a large numbers of genomic ‘indicator’ probes were discovered. The construction of a genomic signature database based upon this technique would allow virtual comparisons and simple queries could generate optimal subsets of markers to be used in large-scale assays, using simple downstream techniques. Biologists from a wide range of fields, studying almost any organism, could efficiently perform genomic comparisons, at potentially any phylogenetic level after performing a small number of standardized DNA microarray hybridizations. Possibilities for refining and expanding the approach are discussed

Differentiating Non-Motor Symptoms in Parkinson's Disease from Controls and Hemifacial Spasm

10.1371/journal.pone.0049596PLoS ONE82