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https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#1
Xavier M Keutgen, Suresh Kumar, Sudheer Gara, Myriem Boufraqech, Sunita Agarwal, Ralph H Hruban, Naris Nilubol, Martha Quezado, Richard Finney, Maggie Cam, Electron Kebebew
BACKGROUND: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype...
November 17, 2017: Cancer
https://www.readbyqxmd.com/read/29149178/drivers-of-genetic-diversity-in-secondary-metabolic-gene-clusters-within-a-fungal-species
#2
Abigail L Lind, Jennifer H Wisecaver, Catarina Lameiras, Philipp Wiemann, Jonathan M Palmer, Nancy P Keller, Fernando Rodrigues, Gustavo H Goldman, Antonis Rokas
Filamentous fungi produce a diverse array of secondary metabolites (SMs) critical for defense, virulence, and communication. The metabolic pathways that produce SMs are found in contiguous gene clusters in fungal genomes, an atypical arrangement for metabolic pathways in other eukaryotes. Comparative studies of filamentous fungal species have shown that SM gene clusters are often either highly divergent or uniquely present in one or a handful of species, hampering efforts to determine the genetic basis and evolutionary drivers of SM gene cluster divergence...
November 17, 2017: PLoS Biology
https://www.readbyqxmd.com/read/29146210/novel-intracellular-transport-refractory-mutations-in-kcnh2-identified-in-patients-with-symptomatic-long-qt-syndrome
#3
Daisuke Fukumoto, Wei-Guang Ding, Yuko Wada, Yusuke Fujii, Mari Ichikawa, Koichiro Takayama, Megumi Fukuyama, Koichi Kato, Hideki Itoh, Takeru Makiyama, Mariko Omatsu-Kanbe, Hiroshi Matsuura, Minoru Horie, Seiko Ohno
BACKGROUND: Missense mutations in KCNH2, a gene encoding the Kv11.1 channel, cause long QT syndrome (LQTS) type 2 primarily by disrupting the intracellular transport of Kv11.1 to the plasma membrane. The present study aimed to clarify the functional changes by two novel KCNH2 missense mutations. METHODS: We performed genetic screening of three unrelated symptomatic LQTS probands with family histories of cardiac symptoms. Chinese hamster ovary cells were transfected with wild-type (WT) and/or mutant KCNH2 plasmid and examined by patch-clamp technique...
November 13, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/29131058/nonfunctional-redundant-acts-characterize-ocd-even-in-ocd-unrelated-tasks-a-demonstration-in-questionnaire-completion
#4
Maya Amitai, Nitzan Arnon, Noa Shaham, Shay Gur, Alan Apter, Abraham Weizman, Haggai Hermesh
BACKGROUND: Ethological methods used to analyze human obsessive-compulsive disorder (OCD) rituals demonstrated excess of unnecessary repetitions as well as irrelevant, idiosyncratic acts (additions) compared to normal activity. A question that still remains is whether these well-known repetitions and additions are manifested in behaviors unrelated to the OCD rituals. Our objectives were to: (1) assess whether OCD-related repetitions and additions as found in previous studies also affect the patients' activity of filling out questionnaires and (2) evaluate the specificity of these behaviors to OCD as opposed to other anxiety disorders and healthy controls...
November 3, 2017: Psychopathology
https://www.readbyqxmd.com/read/29130016/incidental-eosinophilic-chromophobe-renal-cell-carcinoma-in-renal-allograft
#5
Abdullah Alharbi, Maram S Al Turki, Noura Aloudah, Khaled O Alsaad
The incidence of renal cell carcinoma (RCC) in renal allograft in transplant recipients is 0.22-0.25%. De novo clear cell, papillary, and chromophobe RCCs and RCCs with sarcomatoid differentiation originating in renal allograft have been reported. Routine surveillance for graft tumours is not routinely practiced and these tumours are commonly asymptomatic and incidentally discovered. We describe a case of incidental, eosinophilic chromophobe RCC in a 31-year-old, long-term renal transplant male recipient, who presented with acute gastroenteritis 11 years after transplantation...
2017: Case Reports in Transplantation
https://www.readbyqxmd.com/read/29129360/less-is-more-cost-effectiveness-analysis-of-surveillance-strategies-for-small-nonfunctional-radiographically-benign-adrenal-incidentalomas
#6
Kathryn Chomsky-Higgins, Carolyn Seib, Holly Rochefort, Jessica Gosnell, Wen T Shen, Jamess G Kahn, Quan-Yang Duh, Insoo Suh
BACKGROUND: Guidelines for management of small adrenal incidentalomas are mutually inconsistent. No cost-effectiveness analysis has been performed to evaluate rigorously the relative merits of these strategies. METHODS: We constructed a decision-analytic model to evaluate surveillance strategies for <4cm, nonfunctional, benign-appearing adrenal incidentalomas. We evaluated 4 surveillance strategies: none, one-time, annual for 2 years, and annual for 5 years. Threshold and sensitivity analyses assessed robustness of the model...
November 9, 2017: Surgery
https://www.readbyqxmd.com/read/29126119/lower-trabecular-bone-score-in-patients-with-primary-aldosteronism-human-skeletal-deterioration-by-aldosterone-excess
#7
Beom-Jun Kim, Mi Kyung Kwak, Seong Hee Ahn, Hyeonmok Kim, Seung Hun Lee, Jung-Min Koh
Context: Despite the potential detrimental effects of aldosterone excess on bone metabolism, there are discrepancies between fracture risk and bone mass in patients with and without primary aldosteronism (PA). Objective: To clarify the possibility that aldosterone excess may mainly affect bone properties which are not explained by bone mineral density (BMD). Design, Setting, and Patients: Among 625 consecutive patients with newly diagnosed adrenal incidentaloma, 72 patients with biochemically confirmed PA and 335 patients with nonfunctional adrenal incidentaloma were defined as cases and controls, respectively...
November 6, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29119254/potential-pharmacological-chaperones-for-cystathionine-beta-synthase-deficient-homocystinuria
#8
Tomas Majtan, Angel L Pey, Paula Gimenez-Mascarell, Luis Alfonso Martínez-Cruz, Csaba Szabo, Viktor Kožich, Jan P Kraus
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine, chiefly due to missense mutations in the cystathionine beta-synthase (CBS) gene. As with many other inherited disorders, the pathogenic mutations do not target key catalytic residues, but rather introduce structural perturbations leading to an enhanced tendency of the mutant CBS to misfold and either to form nonfunctional aggregates or to undergo proteasome-dependent degradation...
November 10, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29113087/an-energy-efficient-adaptive-sampling-algorithm-in-a-sensor-network-for-automated-water-quality-monitoring
#9
Tongxin Shu, Min Xia, Jiahong Chen, Clarence de Silva
Power management is crucial in the monitoring of a remote environment, especially when long-term monitoring is needed. Renewable energy sources such as solar and wind may be harvested to sustain a monitoring system. However, without proper power management, equipment within the monitoring system may become nonfunctional and, as a consequence, the data or events captured during the monitoring process will become inaccurate as well. This paper develops and applies a novel adaptive sampling algorithm for power management in the automated monitoring of the quality of water in an extensive and remote aquatic environment...
November 5, 2017: Sensors
https://www.readbyqxmd.com/read/29109191/calneuron-1-increased-ca-2-in-the-endoplasmic-reticulum-and-aldosterone-production-in-aldosterone-producing-adenoma
#10
Kazuhiro Kobuke, Kenji Oki, Celso E Gomez-Sanchez, Elise P Gomez-Sanchez, Haruya Ohno, Kiyotaka Itcho, Yoko Yoshii, Masayasu Yoneda, Noboru Hattori
Aldosterone production is initiated by angiotensin II stimulation and activation of intracellular Ca(2+) signaling. In aldosterone-producing adenoma (APA) cells, the activation of intracellular Ca(2+) signaling is independent of the renin-angiotensin-aldosterone systems. The purpose of our study was to clarify molecular mechanisms of aldosterone production related to Ca(2+) signaling. Transcriptome analysis revealed that the CALN1 gene encoding calneuron 1 had the strongest correlation with CYP11B2 (aldosterone synthase) among genes encoding Ca(2+)-binding proteins in APA...
November 6, 2017: Hypertension
https://www.readbyqxmd.com/read/29107112/the-emerging-role-of-exosome-derived-non-coding-rnas-in-cancer-biology
#11
Qing Fan, Shibo Wei, Liang Yang, Xiaodong Zhang, Xueqiang Peng, Dongming Su, Zhenhua Zhai, Xiangdong Hua, Hangyu Li
Exosomes are a new means of intercellular information exchange that have aroused great research interest. Long neglected in research, exosomes were deemed nonfunctional cellular components to be discarded. However, it has been gradually revealed that exosomes are an important tool for the exchange of intercellular information and material. Exosomes contain specific repertoires of non-coding RNAs (ncRNAs, including microRNA and lncRNA), indicating that a specific RNA sorting mechanism may exist. Correspondingly, intracellular multivesicular bodies (MVBs) are produced after fusion with the cell membrane to release exosomes rather than inducing autophagy, which reveals that there may be a specific regulatory mechanism for MVB secretion...
October 26, 2017: Cancer Letters
https://www.readbyqxmd.com/read/29104394/functional-lingual-arch-with-hinge-type-lockable-dentulous-component
#12
Paul Chalakkal, Amanda N Ferreira, Godwin C Da Costa, Meena A Aras
The conventional lingual arch is a nonfunctional fixed space maintainer used in the mandibular arch to maintain arch length by the prevention of mesial movement of the permanent first molars. This study highlights a functional lingual arch with a hinge-type lockable dentulous component that incorporates molar tubes, with various advantages over the conventional lingual arch. How to cite this article: Chalakkal P, Ferreira AN, Da Costa GC, Aras MA. Functional Lingual Arch with Hinge-type Lockable Dentulous Component...
July 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29103386/pituitary-adenoma-associated-with-rathke-s-cleft-cyst-report-of-15-cases
#13
Wenhao Wu, Guijun Jia, Wang Jia, Guilin Li, Junting Zhang, Liwei Zhang
OBJECTIVE: The concomitant presence of pituitary adenoma (PA) with Rathke's cleft cyst (RCC) is rare, and most of the literature published is case reports. RCC's clinicopathological features have not been well described. METHODS: We retrospectively reviewed the data of 15 patients with PA associated with RCC. We also provide a systematic review of the literature. RESULTS: The patients included males and seven females. The transsphenoidal approach was adopted for all patients except one, who underwent right frontal craniotomy...
November 6, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29101613/retained-medullary-cord-extending-to-a-sacral-subcutaneous-meningocele
#14
Nobuya Murakami, Takato Morioka, Takafumi Shimogawa, Kimiaki Hashiguchi, Nobutaka Mukae, Kazuyoshi Uchihashi, Satoshi O Suzuki, Koji Iihara
BACKGROUND: A retained medullary cord (RMC) is a rare closed spinal dysraphism with a robust elongated neural structure continuous from the conus and extending to the dural cul-de-sac. One case extending down to the base of a subcutaneous meningocele at the sacral level has been reported. CLINICAL PRESENTATION: We report on three cases of closed spinal dysraphism, in which a spinal cord-like tethering structure extended out from the dural cul-de-sac and terminated at a skin-covered meningocele sac in the sacrococcygeal region, which was well delineated in curvilinear coronal reconstructed images of 3D-heavily T2-weighted images (3D-hT2WI)...
November 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29101071/subarachnoid-to-subarachnoid-shunt-for-correction-of-nonfunctioning-baclofen-pump-in-a-severe-case-of-chronic-debilitating-post-spinal-cord-injury-spasticity
#15
Adewale A Bakare, Jonathan Weyhenmeyer, Albert Lee
BACKGROUND AND IMPORTANCE: Perhaps the most disabling condition seen in patients with spinal cord injury is spasticity. Spasticity is characterized as hyperreflexia and hypertonicity as a result of damage to the supraspinal tracts in the aftermath of SCI. Intrathecal baclofen (ITB) is the mainstay therapy for spasticity unresponsive to oral baclofen. One of the problems associated with post-SCI spasticity unresponsive to ITB is development of scar tissue that prevents the diffusion of baclofen in the desired spinal cord area...
October 31, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29083468/pancreatic-neuroendocrine-tumors-state-of-the-art-diagnosis-and-management
#16
REVIEW
Aaron Lewis, Daneng Li, John Williams, Gagandeep Singh
The incidence of pancreatic neuroendocrine tumors (PNETs) has significantly increased in recent years, although this may reflect better detection and improved diagnosis, in addition to a true increase in incidence. The majority of PNETs are nonfunctional; up to half of nonmetastatic PNETs will present incidentally, and 85% will develop metastases over their lifetime. Treatment of PNETs is largely dictated by their heterogeneous nature and usually indolent behavior. Surgery is a mainstay of treatment, both in early PNETs and in metastatic disease...
October 15, 2017: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/29082324/left-adrenal-tumor-disappeared-outside-a-field-of-vision-during-laparoscopic-surgery-the-true-identity-was-gastrointestinal-stromal-tumor
#17
Hiroshi Ushida, Hirofumi Goto, Satoshi Ishitoya, Hiroyuki Onishi
Background: We report a case of gastrointestinal stromal tumor (GIST) mimicking a left adrenal tumor. Case Presentation: A 62-year-old female was referred to our hospital for the treatment of left adrenal tumor of 2.8 × 2.3 cm incidentally found during her annual checkup. The preoperative diagnosis based on upper gastroscopy and imaging complete examinations was nonfunctional left adrenal tumor possessing malignant potential. Transperitoneal laparoscopic left adrenalectomy was performed. However, the tumor was not found in the excised adrenal gland that had been completely removed during surgery...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/29081664/impact-of-prior-therapies-on-everolimus-activity-an-exploratory-analysis-of-radiant-4
#18
Roberto Buzzoni, Carlo Carnaghi, Jonathan Strosberg, Nicola Fazio, Simron Singh, Fabian Herbst, Antonia Ridolfi, Marianne E Pavel, Edward M Wolin, Juan W Valle, Do-Youn Oh, James C Yao, Rodney Pommier
BACKGROUND: Recently, everolimus was shown to improve median progression-free survival (PFS) by 7.1 months in patients with advanced, progressive, well-differentiated, nonfunctional neuroendocrine tumors (NET) of lung or gastrointestinal (GI) tract compared with placebo (HR, 0.48; 95% CI, 0.35-0.67; P<0.00001) in the Phase III, RADIANT-4 study. This post hoc analysis evaluates the impact of prior therapies (somatostatin analogs [SSA], chemotherapy, and radiotherapy) on everolimus activity...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29080794/animal-toxins-for-channelopathy-treatment
#19
REVIEW
Sergey Kozlov
Ion channels are transmembrane proteins that allow passive flow of ions inside and/or outside of cells or cell organelles. Except mutations lead to nonfunctional protein production or abolished receptor entrance on the membrane surface an altered channel may have two principal conditions that can be corrected. The channel may conduct fewer ions through (loss-of-function mutations) or too many ions (gain-of-function mutations) compared to a normal channel. Toxins from animal venoms are specialised molecules that are generally oriented toward interactions with ion channels...
October 25, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29080054/double-pituitary-adenomas-associated-with-persistent-trigeminal-artery-a-rare-case-report-and-the-review-of-literature
#20
Naohisa Miyagi, Ryou Doi, Terukazu Kuramoto, Kiyohiko Sakata, Shigeyuki Tahara, Yasuo Sugita, Motohiro Morioka
Multiple pituitary adenomas are rare. We present a quite unique case of double pituitary adenomas associated with persistent trigeminal artery (PTA) treated by endoscopic surgery. To the best of our knowledge, this is the first report in the literature. A 64-year-old woman was referred to our hospital for suspicion of acromegaly. Preoperative magnetic resonance imaging revealed two separate intrasellar masses with intrasellar vascular structure. Right cerebral angiography showed medial-type PTA. The patient underwent endoscopic transsphenoidal surgery and both tumors were resected completely...
October 27, 2017: Neurosurgical Review
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