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https://www.readbyqxmd.com/read/29341744/dynamical-transition-of-collective-motions-in-dry-proteins
#1
Zhuo Liu, Juan Huang, Madhusudan Tyagi, Hugh O'Neill, Qiu Zhang, Eugene Mamontov, Nitin Jain, Yujie Wang, Jie Zhang, Jeremy C Smith, Liang Hong
Water is widely assumed to be essential for protein dynamics and function. In particular, the well-documented "dynamical" transition at ∼200  K, at which the protein changes from a rigid, nonfunctional form to a flexible, functional state, as detected in hydrogenated protein by incoherent neutron scattering, requires hydration. Here, we report on coherent neutron scattering experiments on perdeuterated proteins and reveal that a transition occurs in dry proteins at the same temperature resulting primarily from the collective heavy-atom motions...
July 28, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341290/early-failure-of-kidney-transplants-in-the-current-era-a-national-cohort-study
#2
Ilkka Helanterä, Juulia Räihä, Patrik Finne, Marko Lempinen
Although short-term outcome after kidney transplantation has improved, a small proportion of grafts are lost during the first year. We characterize in detail all early graft losses in the current era in a nationwide cohort of kidney transplant recipients. Altogether 2447 kidney transplantations, performed between June 2004 and October 2016, were included. All graft losses (return to dialysis or patient death) occurring during the first posttransplant year were characterized. During the first posttranplant year altogether 109 grafts were lost, 67 grafts failed, and 42 patients died...
January 16, 2018: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/29339441/allele-specific-droplet-digital-pcr-combined-with-a-next-generation-sequencing-based-algorithm-for-diagnostic-copy-number-analysis-in-genes-with-high-homology-proof-of-concept-using-stereocilin
#3
Sami S Amr, Elissa Murphy, Elizabeth Duffy, Rojeen Niazi, Jorune Balciuniene, Minjie Luo, Heidi L Rehm, Ahmad N Abou Tayoun
BACKGROUND: Copy number variants (CNVs) can substantially contribute to the pathogenic variant spectrum in several disease genes. The detection of this type of variant is complicated in genes with high homology to other genomic sequences, yet such genomics regions are more likely to lead to CNVs, making it critical to address detection in these settings. METHODS: We developed a copy number analysis approach for high homology genes/regions that consisted of next-generation sequencing (NGS)-based dosage analysis accompanied by allele-specific droplet digital PCR (ddPCR) confirmatory testing...
January 16, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29331586/positive-effects-of-total-recovery-period-on-anti-and-pro-inflammatory-cytokines-are-not-linked-to-performance-re-establishment-in-overtrained-mice
#4
Alisson L da Rocha, Ana P Pinto, Bruno C Pereira, Eike B Kohama, Gustavo P Morais, Larissa G de Vicente, José R Pauli, Dennys E Cintra, Eduardo R Ropelle, Leandro P de Moura, Hugo T Filho, Adelino S R da Silva
The association between excessive training sessions (i.e., overtraining/OT) and periods of inadequate recovery is linked to the nonfunctional overreaching (NFOR) state, which is defined as an unexplained decrement or stagnation of performance. The cytokine hypothesis of OT considers that pro-inflammatory cytokines are responsible by the NFOR state-induced performance decrement. Investigations using rodent models of OT verified increased levels of pro-inflammatory cytokines in hypothalamus, liver, serum and skeletal muscle samples...
January 10, 2018: Cytokine
https://www.readbyqxmd.com/read/29329759/treatment-outcomes-of-macrolide-susceptible-mycobacterium-abscessus-lung-disease
#5
Hayoung Choi, Byung Woo Jhun, Su-Young Kim, Dae Hun Kim, Hyun Lee, Kyeongman Jeon, O Jung Kwon, Hee Jae Huh, Chang-Seok Ki, Nam Yong Lee, Sung Jae Shin, Charles L Daley, Won-Jung Koh
Mycobacterium abscessus lung disease is difficult to treat due to inducible resistance to macrolides. However, 15%-20% of isolates are macrolide susceptible. In 14 patients with macrolide-susceptible M. abscessus lung disease, all isolates had nonfunctional erm(41) gene, and sputum culture conversion rate was achieved in 93% (13/14) following antibiotic therapy.
December 16, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/29322972/a-randomized-controlled-trial-to-determine-the-role-of-intraoperative-lumbar-cerebrospinal-fluid-drainage-in-patients-undergoing-endoscopic-transsphenoidal-surgery-for-pituitary-adenomas
#6
Gandham E Jonathan, Sauradeep Sarkar, Georgene Singh, Sunithi Mani, Regi Thomas, Ari George Chacko
BACKGROUND: Intraoperative cerebrospinal fluid (CSF) leaks are a frequent cause of morbidity in patients undergoing transsphenoidal surgery. This prospective study was performed to examine the impact of intraoperative lumbar subarachnoid drainage (LSAD) on the incidence of this complication and on the extent of resection in patients undergoing endoscopic transsphenoidal surgery for pituitary adenomas. MATERIALS AND METHODS: This prospective study was conducted in a single large academic medical center...
January 2018: Neurology India
https://www.readbyqxmd.com/read/29320763/a-de-novo-50-bp-gnas-intragenic-duplication-in-a-patient-with-pseudohypoparathyroidism-type-1a
#7
Erina Suzuki, Ryosuke Bo, Kaori Sue, Hiroyuki Awano, Tsutomu Ogata, Satoshi Narumi, Masayo Kagami, Shinichiro Sano, Maki Fukami
Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Here, we report a de novo 50-bp tandem duplication in GNAS (c.723_772dup50, p.Glu259Leufs*29) identified in a patient with typical clinical features of PHP1a...
January 11, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29318396/new-who-classification-of-pituitary-adenomas-4th-edition-assessment-of-pituitary-transcription-factors-and-the-prognostic-histological-factors
#8
REVIEW
Hiroshi Nishioka, Naoko Inoshita
WHO classification of pituitary adenomas was revised in 2017. The two major and significant changes are discussed. (1) The new classification focuses on adenohypophysial-cell lineage for the designation of adenomas, and thus, assessment of pituitary transcription factors is recommended. Its appropriate use has a complementary role in obtaining an accurate diagnosis, particularly in hormone-negative adenomas. Subclassification of nonfunctioning adenomas was revised accordingly and, consequently, null cell adenomas became quite rare...
January 9, 2018: Brain Tumor Pathology
https://www.readbyqxmd.com/read/29316821/evaluation-of-a-functional-hand-orthosis-combined-with-electrical-stimulation-adjunct-to-arm-hand-rehabilitation-in-subacute-stroke-patients-with-a-severely-to-moderately-affected-hand-function
#9
Johan Anton Franck, Rob Johannes Elise Marie Smeets, Henk Alexander Maria Seelen
PURPOSE: To investigate the usability and effectiveness of a functional hand orthosis, combined with electrical stimulation adjunct to therapy-as-usual, on functional use of the moderately/severely impaired hand in sub-acute stroke patients. MATERIALS AND METHODS: Single case experiment (A-B-A'-design) involving eight sub-acute stroke patients. The functional hand orthosis and electrical stimulation were used for six weeks, four days/week, 45'/day. OUTCOME MEASURES: Action_Research_Arm_Test, Intrinsic_Motivation_Inventory...
January 9, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29314715/outcomes-of-endoscopic-and-microscopic-transsphenoidal-surgery-on-non-functioning-pituitary-adenomas-a-systematic-review-and-meta-analysis
#10
Shi-Yuan Yu, Qiu Du, Si-Yuan Yao, Ke-Nan Zhang, Jian Wang, Zhe Zhu, Xiao-Bing Jiang
Both microscopic and endoscopic transsphenoidal surgery are effective approaches for nonfunctioning pituitary adenomas. The issue on the comparison of their efficacy and safety remains inconsistent. A thorough search of the literatures (PubMed, EMBASE, MEDLINE) were performed up to March 2017. Studies reporting outcomes of microscopic or endoscopic transsphenoidal surgery on nonfunctioning pituitary adenomas were included. A meta-analysis was performed focusing on the early stage and long term outcomes. The final search yielded 19 eligible studies enrolling 3847 patients, 389 of them underwent microscopic approach and 3458 of them with endoscopic approach...
January 4, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29307020/gross-total-resection-of-pituitary-adenomas-after-endoscopic-vs-microscopic-transsphenoidal-surgery-a-meta-analysis
#11
REVIEW
Reem D Almutairi, Ivo S Muskens, David J Cote, Mark D Dijkman, Vasileios K Kavouridis, Erin Crocker, Kholoud Ghazawi, Marike L D Broekman, Timothy R Smith, Rania A Mekary, Hasan A Zaidi
BACKGROUND: Microscopic transsphenoidal surgery (mTSS) is a well-established method to address adenomas of the pituitary gland. Endoscopic transsphenoidal surgery (eTSS) has become a viable alternative, however. Advocates suggest that the greater illumination, panoramic visualization, and angled endoscopic views afforded by eTSS may allow for higher rates of gross total tumor resection (GTR). The aim of this meta-analysis was to determine the rate of GTR using mTSS and eTSS. METHODS: A meta-analysis of the literature was conducted using PubMed, EMBASE, and Cochrane databases through July 2017 in accordance with PRISMA guidelines...
January 6, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29305299/identification-of-oaf-and-pvrl1-as-candidate-genes-for-an-ocular-anomaly-characterized-by-keratolenticular-dysgenesis-and-ectopia-lentis
#12
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
January 2, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29301894/whole-genome-sequence-of-the-novel-enterobacter-bacteriophage-arya-with-an-integrase-pseudogene-isolated-from-the-gut-of-the-formosan-subterranean-termite
#13
Chinmay Vijay Tikhe, Chris R Gissendanner, Claudia Husseneder
We isolated and sequenced the novel Enterobacter bacteriophage Arya from termite gut. The genome showed synteny to lytic bacteriophage genomes; however, the genome encodes a truncated, putatively nonfunctional integrase pseudogene. Lysogeny-related genes were previously observed in certain lytic phages, but their role and evolution remain unclear.
January 4, 2018: Genome Announcements
https://www.readbyqxmd.com/read/29299966/ancient-dna-investigation-of-a-medieval-german-cemetery-confirms-long-term-stability-of-ccr5-%C3%AE-32-allele-frequencies-in-central-europe
#14
Abigail Bouwman, Natallia Shved, Gülfirde Akgül, Frank Rühli, Christina Warinner
The CCR5-Δ32 mutation present in European populations is among the most prominently debated cases of recent positive selection in humans. This allele, a 32-bp deletion that renders the T-cell CCR5 receptor nonfunctional, has important epidemiological and public health significance, as homozygous carriers are resistant to several HIV strains. However, although the function of this allele in preventing HIV infection is now well described, its human evolutionary origin is poorly understood. Initial attempts to determine the emergence of the CCR5-Δ32 allele pointed to selection during the 14th-century Black Death pandemic; however, subsequent analyses suggest that the allele rose in frequency more than 5,000 years ago, possibly through drift...
April 2017: Human Biology
https://www.readbyqxmd.com/read/29296942/gene-edited-pseudogene-resurrection-corrects-p47phox-deficient-chronic-granulomatous-disease
#15
Randall K Merling, Douglas B Kuhns, Colin L Sweeney, Xiaolin Wu, Sandra Burkett, Jessica Chu, Janet Lee, Sherry Koontz, Giovanni Di Pasquale, Sandra A Afione, John A Chiorini, Elizabeth M Kang, Uimook Choi, Suk See De Ravin, Harry L Malech
Pseudogenes are duplicated genes with mutations rendering them nonfunctional. For single-gene disorders with homologous pseudogenes, the pseudogene might be a target for genetic correction. Autosomal-recessive p47phox-deficient chronic granulomatous disease (p47-CGD) is a life-threatening immune deficiency caused by mutations in NCF1, a gene with 2 pseudogenes, NCF1B and NCF1C. The most common NCF1 mutation, a GT deletion (ΔGT) at the start of exon 2 (>90% of alleles), is constitutive to NCF1B and NCF1C...
January 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295979/extreme-sensitivity-to-ultraviolet-light-in-the-fungal-pathogen-causing-white-nose-syndrome-of-bats
#16
Jonathan M Palmer, Kevin P Drees, Jeffrey T Foster, Daniel L Lindner
Bat white-nose syndrome (WNS), caused by the fungal pathogen Pseudogymnoascus destructans, has decimated North American hibernating bats since its emergence in 2006. Here, we utilize comparative genomics to examine the evolutionary history of this pathogen in comparison to six closely related nonpathogenic species. P. destructans displays a large reduction in carbohydrate-utilizing enzymes (CAZymes) and in the predicted secretome (~50%), and an increase in lineage-specific genes. The pathogen has lost a key enzyme, UVE1, in the alternate excision repair (AER) pathway, which is known to contribute to repair of DNA lesions induced by ultraviolet (UV) light...
January 2, 2018: Nature Communications
https://www.readbyqxmd.com/read/29288467/prognostic-factors-of-regrowth-in-nonfunctioning-pituitary-tumors
#17
REVIEW
Gerald Raverot, Alexandre Vasiljevic, Emmanuel Jouanneau
Surgery is the treatment of choice for nonfunctioning pituitary tumors (NFPTs). Postoperative tumor regrowth during follow-up is present in about half of the patients with invasive NFPTs with residual tumor but occurs also in 15% of patient without residue. Therapeutic strategies should consider this risk of recurrence and the potential side effects associated with therapeutic options. Identification of prognostic markers is mandatory to help clinicians to predict the risk of recurrence and to choose the best strategy between conservative follow-up, second surgery, postoperative adjuvant radiation therapy, and medical treatment (dopamine agonists, somatostatin analogs)...
December 29, 2017: Pituitary
https://www.readbyqxmd.com/read/29280492/unexpected-prominent-tension-pneumosella-five-years-after-endoscopic-endonasal-transsphenoidal-surgery
#18
Tatsuma Matsuda, Kentaro Horiguchi, Yoshinori Higuchi, Toyoyuki Hanazawa, Yoshitaka Okamoto, Yasuo Iwadate
Tension pneumosella (TP) is a rare entity reported as the invagination of the sphenoid sinus mucosa into the skull base after endonasal transsphenoidal surgery. Few studies have reported on TP, and in these studies, invagination is confined to either the intrasellar or suprasellar area. We encountered a case of unexpected prominent TP toward the intracranial space 5 years after endoscopic endonasal transsphenoidal surgery (EETS) for a nonfunctioning pituitary adenoma. In addition, we present a hypothesis of the underlying mechanism by a pressure gradient change between the extracranial and intracranial space in TP formation...
December 27, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29280025/management-of-nonfunctioning-pituitary-adenomas-nfas-observation
#19
REVIEW
Wenyu Huang, Mark E Molitch
Clinically nonfunctioning pituitary adenomas (NFAs) range from those causing significant hypothalamic/pituitary dysfunction and visual field compromise due to their large size to those being completely asymptomatic. In the absence of hypersecretion, hypopituitarism or visual field defects, patients with NFAs may be followed by periodic surveillance using MRI to detect tumor enlargement. In some cases, endocrine tests are also needed during observation to discover new pituitary dysfunction. Enlargement of NFAs without treatment occurs in about 10% of microadenomas and 23% of macroadenomas...
December 26, 2017: Pituitary
https://www.readbyqxmd.com/read/29279316/targeting-cxcr4-cxc-chemokine-receptor-type-4-for-molecular-imaging-of-aldosterone-producing-adenoma
#20
Britta Heinze, Carmina T Fuss, Paolo Mulatero, Felix Beuschlein, Martin Reincke, Mona Mustafa, Andreas Schirbel, Timo Deutschbein, Tracy Ann Williams, Yara Rhayem, Marcus Quinkler, Nada Rayes, Silvia Monticone, Vanessa Wild, Celso E Gomez-Sanchez, Anna-Carinna Reis, Stephan Petersenn, Hans-Juergen Wester, Saskia Kropf, Martin Fassnacht, Katharina Lang, Ken Herrmann, Andreas K Buck, Christina Bluemel, Stefanie Hahner
Primary aldosteronism is the most frequent cause of secondary hypertension and is associated with increased morbidity and mortality compared with hypertensive controls. The central diagnostic challenge is the differentiation between bilateral and unilateral disease, which determines treatment options. Bilateral adrenal venous sampling, currently recommended for differential diagnosis, is an invasive procedure with several drawbacks, making it desirable to develop novel noninvasive diagnostic tools. When investigating the expression pattern of chemokine receptors by quantitative real-time polymerase chain reaction and immunohistochemistry, we observed high expression of CXCR4 (CXC chemokine receptor type 4) in aldosterone-producing tissue in normal adrenals, adjacent adrenal cortex from adrenocortical adenomas, and in aldosterone-producing adenomas (APA), correlating strongly with the expression of CYP11B2 (aldosterone synthase)...
December 26, 2017: Hypertension
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