Σάββατο, 25 Αυγούστου 2018

Long-term outcomes of combined endoscopic resection and chemoradiotherapy for esophageal squamous cell carcinoma with submucosal invasion. Author’s reply.



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Long-term outcomes of combined endoscopic resection and chemoradiotherapy for esophageal squamous cell carcinoma with submucosal invasion. Author’s reply.



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Effect of Facilitated Discharge in Pediatric Orthopedic Patients at an Academic Medical Facility

Because health care reimbursement is being linked to discharge quality and patient satisfaction, this quality improvement initiative reviewed the outcomes of embedding a pediatric nurse practitioner within the resident team at an academic medical facility.

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A case of liver hilar tuberculous lymphadenitis complicated by biliary stricture diagnosed by endoscopic ultrasound-guided fine-needle aspiration

Abstract

This report describes a case of liver hilar tuberculous lymphadenitis complicated by biliary stricture, diagnosed with endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). A 44-year-old woman was referred to our center for further evaluation of abnormal liver function tests. Abdominal ultrasound/contrast-enhanced computed tomography (CT) revealed a 15-mm hypovascular mass with a weakly enhanced margin at the liver hilum. Magnetic resonance cholangiopancreatography revealed dilatation of the intrahepatic bile ducts in the left lobe of liver and gradual narrowing of the left hepatic duct. Biliary stricture associated with enlarged hilar lymph nodes due to metastasis or malignant lymphoma was suspected, but calcification on chest CT and a positive T-SPOT test did not rule out tuberculosis. After transpapillary brush cytology of the bile duct stricture failed to confirm the diagnosis, EUS-FNA of hilar lymph nodes was performed and showed positive for the acid-fast bacillus and polymerase chain reaction for Mycobacterium tuberculosis DNA as well as epithelioid granulomas on pathological evaluation. Those findings led to a diagnosis of hilar tuberculous lymphadenitis. The patient is under treatment with antituberculosis drugs. Abdominal tuberculous lymphadenitis is rare and some cases diagnosed as lymphadenopathy of unknown origin have required surgery. EUS-FNA is a safe and minimally invasive diagnostic method in such cases.



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BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease

Abstract

Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient. A de novo heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 was identified in a female myopathy. She first noticed a gait disturbance and spinal rigidity at the age of 11, and serum creatine kinase levels were elevated ninefolds than normal. She showed an axonal sensory-motor polyneuropathy like Charcot–Marie–Tooth disease (CMT), myopathy, rigid spine and respiratory dysfunction; however, she did not show any cardiomyopathy, which is a common symptom in BAG3 mutation. Lower limb MRI and whole spine MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. When we track traceable MRI 1 year later, the muscle damage progressed slowly. As far as our knowledge, this is the first Korean patient with BAG3 mutation. We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it.



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Developmental expression of the slurp-like1/ly2.3/ly97.3 and slurp-like2/ly2.2/ly97.2 genes during zebrafish early embryogenesis

Publication date: Available online 24 August 2018

Source: Gene Expression Patterns

Author(s): Atsuo Kawahara, Hitoshi Morita, Kanoko Yanagi, Tomoe Ishizaka, Kiyohito Taimatsu, Rie Ohga

Abstract

Mammalian SLURP1 and SLURP2 belong to the Ly-6/uPAR superfamily and are involved in maintaining the physiological integrity of keratinocytes. However, the developmental expression and functions of other Ly-6/uPAR family genes in vertebrates are still obscure. We have isolated novel Ly-6/uPAR family genes slurp-like1 (ly2.3/ly97.3) and slurp-like2 (ly2.2/ly97.2) in zebrafish. Both the Slurp-like1 and Slurp-like2 proteins contain the typical signal sequence and carboxy-terminal CCXXXXCN (X: an arbitrary amino acid) consensus sequence of the Ly-6/uPAR family but lack a transmembrane domain and a GPI-anchoring signal sequence, suggesting that both proteins may function as secretory proteins. Whole-mount in situ hybridization analysis revealed that slurp-like1 was predominantly expressed in the floor plate of the neural tube and in the hypochord of the notochord at 24 h post-fertilization (hpf) and detected in the liver and intestinal bulb at 72 hpf, while slurp-like2 was expressed in the midbrain and hindbrain at 24 hpf and detected in the liver and pancreas at 72 hpf. Differential expression profiles of the slurp-like1 and slurp-like2 genes suggest the distinct physiological involvement of these genes in zebrafish early embryogenesis.



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Usability evaluation of a novel robotic power wheelchair for indoor and outdoor navigation

Publication date: Available online 25 August 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Jorge L. Candiotti, Deepan C. Kamaraj, Brandon Daveler, Cheng-Shiu Chung, Garrett G. Grindle, Rosemarie Cooper, Rory A. Cooper

Abstract
Objective

To compare the Mobility Enhancement roBotic (MEBot) wheelchair's capabilities with commercial Electric Powered Wheelchairs (EPWs) by performing a systematic usability evaluation.

Design

Usability in terms of effectiveness, efficacy, and satisfaction was evaluated using quantitative measures. A semi-structured interview was employed to gather feedback about the users' interaction with MEBot.

Setting

Lab testing of EPW driving performance with two devices in a controlled setting simulating common EPW driving tasks.

Participants

A convenience sample of twelve expert EPW users (9 male, 3 female) with an average age of 54.7 (± 10.9) years and 16.3 (± 8.1) years of EPW driving experience.

Interventions

Not Applicable

Main Outcome Measure(s)

Powered Mobility Clinical Driving Assessment (PMCDA); Satisfaction Questionnaire; National Aeronautics and Space Administration's Task Load Index (NASA-TLX).

Results

Participants were able to perform significantly higher number of tasks (p=.004), with significantly higher scores in both the Adequacy-Efficacy (p=.005) and the safety (p=.005) domains of the PMCDA while using MEBot over curbs and cross-slopes. However, participants reported significantly higher mental demand (p=.005) while using MEBot to navigate curbs and cross-slopes due to MEBot's complexity to perform its mobility applications which increased user's cognitive demands.

Conclusions

Overall, this usability evaluation demonstrated that MEBot is a promising EPW device to use in indoors and outdoors with architectural barriers such as curbs and cross-slopes. Current design limitations were highlighted with recommendations for further improvement.

Graphical abstract

Graphical abstract for this article



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Convergent Validity and Responsiveness of the Stroke Upper Limb Capacity Scale

Publication date: Available online 24 August 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Jayme S. Knutson, Amy S. Fried, Kristine M. Hansen, Terri Z. Hisel, Mary Y. Harley

ABSTRACT
Objective

To evaluate the convergent validity and responsiveness of the Stroke Upper Limb Capacity Scale (SULCS) in comparison to the Arm Motor Ability Test (AMAT), the Box and Blocks Test (BBT), and the upper limb Fugl-Meyer Assessment (FMA). The SULCS is a relatively new measure that was designed to be easier to score and less time consuming than some existing measures.

Design

Prospective repeated-measures design

Setting

Clinical research laboratory of a large public hospital

Participants

Patients (n=61) <2 years post-stroke with moderate to severe upper limb hemiparesis.

Intervention

Participants received 12 weeks of therapy that included neuromuscular electrical stimulation of the paretic finger and thumb extensors. The SULCS, AMAT, BBT, and FMA were administered at weeks 0, 6, 12 (end-of-therapy), 20, 28, and 36 (6 months post-therapy).

Main Outcome Measures

Convergent validity was evaluated with Spearman's correlation coefficients (ρ) between pairs of measures at each time point. Responsiveness from 0 to 12 weeks and 0 to 36 weeks was evaluated with the standardized response mean (SRM).

Results

The SULCS demonstrated strong correlation with the AMAT (ρ=0.81-0.93), BBT (ρ=0.73-0.92), and FMA (ρ=0.78-0.92), at all 6 time points. All four measures had moderate to large SRMs (SULCS, 0.71–0.77; AMAT, 0.83–0.97; BBT, 0.73–0.82; FMA, 0.75–0.76). There was no significant difference in responsiveness among the four measures.

Conclusions

The results support the use of the SULCS to measure upper limb capacity in patients who are less than 2 years post-stroke with moderate to severe hemiplegia.



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Medical Rehabilitation: Guidelines to Advance the Field with High-Impact Clinical Trials

Publication date: Available online 24 August 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Marcas M. Bamman, Gary R. Cutter, David M. Brienza, John Chae, Daniel M. Corcos, Stephanie DeLuca, Edelle Field-Fote, Mona N. Fouad, Catherine E. Lang, Anne Lindblad, Robert W. Motl, Carla G. Perna, Darcy Reisman, Kenneth M. Saag, Sean I. Savitz, Kathryn H. Schmitz, Jennifer Stevens-Lapsley, John Whyte, Carolee J. Winstein, Mary E. Michel

Abstract

The purpose of this Special Communication is to summarize guidelines and recommendations stemming from an expert panel convened by the National Institutes of Health (NIH), National Center for Medical Rehabilitation Research (NCMRR) for a workshop entitled, The Future of Medical Rehabilitation Clinical Trials, held 29-30 September 2016 at the NCMRR offices in Bethesda, Maryland. The ultimate goal of both the workshop and this summary is to offer guidance on clinical trials design and operations to the medical rehabilitation research community, with the intent of maximizing the impact of future trials.



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Oligometastatic recurrence of an oesophageal adenocarcinoma at a chest drain site following radical treatment: palliative treatment or resection?

Abstract

A 62-year-old female patient diagnosed with oesophageal adenocarcinoma underwent radical treatment consisting of neoadjuvant chemotherapy and oesophagectomy with no major complications. Eleven months later, she re-presented with a mass at one of the chest drain sites. A PET-CT scan and biopsy demonstrated this to be a single recurrence of the oesophageal adenocarcinoma. Excision of the metastatic lesion was considered as per metachronous single site metastasis. However, the operation was postponed due to acute kidney injury. Restaging after 6 weeks revealed progressive metastatic disease. The patient underwent palliative therapy and passed away soon after. Oesophageal cancer recurrence has a very poor prognosis, and factors such as the disease-free interval, site of recurrence and tumour pathological factors must be considered when stratifying for suitability for metastasectomy. A period of watchful waiting followed by restaging is essential to rule out patients with indolent metastatic disease.



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Hypermethylated in cancer 1 (HIC1) mediates high glucose induced ROS accumulation in renal tubular epithelial cells by epigenetically repressing SIRT1 transcription

Publication date: Available online 25 August 2018

Source: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms

Author(s): Sheng Zeng, Xiaoyan Wu, Xuyan Chen, Huihui Xu, Tao Zhang, Yong Xu

Abstract

Reactive oxygen species (ROS) is a key regulator of an array of physiological and pathological processes. While essential for the host defense mechanism, excessive ROS generation and/or deficient clearance is blamed for the pathogenesis of human diseases. In the present study, we investigated the regulatory role of hypermethylated in cancer 1 (HIC1), a transcription factor, in high glucose-induced ROS accumulation in renal tubular epithelial cells (HK-2). Treatment with high glucose (HG) not only markedly up-regulated HIC1 expression but prompted its translocation into the nucleus. HG stimulation promoted HIC1 binding to the promoter of SIRT1, a known HIC1 target with anti-oxidative ability. The recruitment of HIC1 to the SIRT1 promoter was paralleled by the enrichment of trimethylated histone H3K27 and 5‑methyl cytosine, two well-characterized markers for trans-repression. HIC1 silencing with small interfering RNA abrogated SIRT1 repression by HG and at the same time weakened ROS accumulation in HK-2 cells. Knockdown or pharmaceutical inhibition of SIRT1 preempted the effect of HIC1 depletion by restoring ROS accumulation and down-regulating the expression of antioxidant genes. Mechanistically, HIC1 interacted with and recruited EZH2, an H3K27 trimethyltransferase, and DNA methyltransferase 1 (DNMT1) to repress SIRT1 transcription in response to HG stimulation. Depletion or inhibition of EZH2 or DNMT1 rescued SIRT1 expression and blocked ROS accumulation in HG-treated HK-2 cells. In conclusion, our data suggest that epigenetic repression of SIRT1 by HIC1 may contribute to HG-induced elevation of ROS levels in renal tubular epithelial cells.



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New middle Eocene omomyines (Primates, Haplorhini) from San Diego County, California

Publication date: Available online 24 August 2018

Source: Journal of Human Evolution

Author(s): Amy L. Atwater, E. Christopher Kirk

Abstract

The Friars Formation of San Diego County, California, has yielded a middle Eocene mammalian fauna from the early part of the Uintan North American Land Mammal Age. Prior research on the primate fauna from the Friars Formation provides evidence of one notharctine and multiple omomyine species, but many specimens collected since the early 1980s remain unstudied. Here we describe three new omomyine genera from the Friars Formation. These new taxa range in estimated body mass from about 119 g to 757 g, and substantially expand the diversity of middle Eocene omomyoids known from Southern California. Resolution of the phylogenetic relationships of the new Friars Formation omomyines is complicated by the fact that different character-taxon matrices and tree building methods produce different results. Nevertheless, all preliminary phylogenetic analyses are congruent in recovering a close relationship between the three new genera and the omomyines Macrotarsius, Omomys, Ourayia, and Utahia. Prior research has documented a shift in omomyoid diversity in North America from the anantomophine-rich Bridgerian to the omomyine-rich Uintan. Our description of three new Uintan omomyine taxa from the Friars Formation further emphasizes these opposite trends in anaptomorphine and omomyine species richness during the middle Eocene. All three of the new taxa are currently known from only the Friars Formation in San Diego County, California. Four of the previously known omomyoid genera from Southern California (Dyseolemur, Chumashius, Yaquius, and Stockia) are also endemic to the region, further highlighting the provincial character of primate faunas in Utah, Southern California, and West Texas during the Uintan.



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Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

This article was originally published electronically on 29 May 2018 with incorrect copyright line in the Publisher's internet portal (currently SpringerLink). The copyright line of the article should be "© The Author (s) 2018".



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A Simple Method of Topicalisation to Facilitate Awake Fibreoptic Nasotracheal Intubation: Experience at a Tertiary Care Hospital.

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A Simple Method of Topicalisation to Facilitate Awake Fibreoptic Nasotracheal Intubation: Experience at a Tertiary Care Hospital.

Turk J Anaesthesiol Reanim. 2018 Aug;46(4):333-334

Authors: Bhalotra AR

PMID: 30140545 [PubMed]



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Synaptic entrainment of ectopic action potential generation in hippocampal pyramidal neurons

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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P2X4 receptor re‐sensitization depends on a protonation/deprotonation cycle mediated by receptor internalisation and recycling

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Spatial receptive field shift by preceding cross‐modal stimulation in the cat superior colliculus

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


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Elevated expression of p53 in early colon polyps in a pig model of human familial adenomatous polyposis

Abstract

Familial adenomatous polyposis (FAP) is a hereditary predisposition to formation of colon polyps that can progress to colorectal cancer (CRC). The severity of polyposis varies substantially within families bearing the same germline mutation in the adenomatous polyposis coli (APC) tumour suppressor gene. The progressive step-wise accumulation of genetic events in tumour suppressor genes and oncogenes leads to oncogenic transformation, with driver alterations in the tumour protein p53 (TP53) gene playing a key role in advanced stage CRC. We analysed groups of pigs carrying a truncating mutation in APC (APC1311/+; orthologous to human APC1309/+) to study the influence of TP53 polymorphisms and expression on the frequency of polyp formation and polyp progression in early-stage FAP. Five generations of APC1311/+ pigs were examined by colonoscopy for polyposis severity and development. A total of 19 polymorphisms were found in 5′-flanking, coding, and 3′ untranslated regions of TP53. The distribution of TP53 genotypes did not differ between APC1311/+ pigs with low (LP) and high (HP) number of colon polyps. p53 mRNA expression was analysed in distally located normal mucosa samples of wild-type pigs, APC1311/+ LP and HP pigs, and also in distally located polyp samples histologically classified as low-grade (LG-IEN) and high-grade intraepithelial dysplastic (HG-IEN) from APC1311/+ pigs. p53 mRNA expression was found to be significantly elevated in HG-IEN compared to LG-IEN samples (p = 0.012), suggesting a role for p53 in the early precancerous stages of polyp development.



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