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https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#1
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28808884/outcomes-of-laparoscopic-hiatal-hernia-repair-in-nine-bariatric-patients-with-prior-sleeve-gastrectomy
#2
Francisco Igor B Macedo, Mia Mowzoon, Vijay K Mittal, Mubashir Sabir
BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) may exacerbate gastroesophageal reflux disease (GERD) in patients with a hiatal hernia (HH). Surgical repair may be needed, however prior LSG precludes standard HH repair with fundoplication. METHODS: We retrospectively reviewed our experience with bariatric patients with prior LSG undergoing laparoscopic HH repair from August 2010 to July 2016. Patient demographics and outcomes including mortality, length of stay (LOS), readmission rates, reoperation, and complications were described...
August 14, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28802538/what-is-the-reliability-of-clinical-measurement-tests-for-humeral-head-position-a-systematic-review
#3
Christine Konieczka, Christine Gibson, Leeann Russett, Leah Dlot, Joy MacDermid, Lyn Watson, Jackie Sadi
STUDY DESIGN: Systematic review. INTRODUCTION: Physiotherapists routinely assess the position of the humeral head (HH) in patients with shoulder pain. PURPOSE OF THE STUDY: To conduct a systematic review to determine the quality and content of studies that evaluated the reliability of clinical measurement methods for assessing the HH position. METHODS: Five databases and gray literature were searched for studies fitting the eligibility criteria...
August 9, 2017: Journal of Hand Therapy: Official Journal of the American Society of Hand Therapists
https://www.readbyqxmd.com/read/28802362/kallmann-syndrome-in-pediatric-otorhinolaryngology-practice-case-report-and-literature-review
#4
Karolina Dżaman, Karolina Zborowska-Piskadło, Mirosława Pietniczka-Załęska, Ireneusz Kantor
BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28800946/three-tctn-proteins-are-functionally-conserved-in-the-regulation-of-neural-tube-patterning-and-gli3-processing-but-not-ciliogenesis-and-hedgehog-signaling-in-the-mouse
#5
Chengbing Wang, Jia Li, Qing Meng, Baolin Wang
Tctn1, Tctn2, and Tctn3 are membrane proteins that localize at the transition zone of primary cilia. Tctn1 and Tctn2 mutations have been reported in both humans and mice, but Tctn3 mutations have been reported only in humans. It is also not clear whether the three Tctn proteins are functionally conserved with respect to ciliogenesis and Hedgehog (Hh) signaling. In the present study, we report that loss of Tctn3 gene function in mice results in a decrease in ciliogenesis and Hh signaling. Consistent with this, Tctn3 mutant mice exhibit holoprosencephaly and randomized heart looping and lack the floor plate in the neural tube, the phenotypes similar to those of Tctn1 and Tctn2 mutants...
August 8, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28797033/a-shh-foxf1-bmp4-signaling-axis-regulating-growth-and-differentiation-of-epithelial-and-mesenchymal-tissues-in-ureter-development
#6
Tobias Bohnenpoll, Anna B Wittern, Tamrat M Mamo, Anna-Carina Weiss, Carsten Rudat, Marc-Jens Kleppa, Karin Schuster-Gossler, Irina Wojahn, Timo H-W Lüdtke, Mark-Oliver Trowe, Andreas Kispert
The differentiated cell types of the epithelial and mesenchymal tissue compartments of the mature ureter of the mouse arise in a precise temporal and spatial sequence from uncommitted precursor cells of the distal ureteric bud epithelium and its surrounding mesenchyme. Previous genetic efforts identified a member of the Hedgehog (HH) family of secreted proteins, Sonic hedgehog (SHH) as a crucial epithelial signal for growth and differentiation of the ureteric mesenchyme. Here, we used conditional loss- and gain-of-function experiments of the unique HH signal transducer Smoothened (SMO) to further characterize the cellular functions and unravel the effector genes of HH signaling in ureter development...
August 10, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#7
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28789624/hedgehog-inhibitor-sonidegib-potentiates-177-lu-octreotate-therapy-of-got1-human-small-intestine-neuroendocrine-tumors-in-nude-mice
#8
Johan Spetz, Britta Langen, Nils Rudqvist, Toshima Z Parris, Khalil Helou, Ola Nilsson, Eva Forssell-Aronsson
BACKGROUND: (177)Lu-octreotate can be used to treat somatostatin receptor expressing neuroendocrine tumors. It is highly effective in animal models, but clinical studies have so far only demonstrated low cure rates. Hedgehog inhibitors have shown therapeutic effect as monotherapy in neuroendocrine tumor model systems and might be one option to enhance the efficacy of (177)Lu-octreotate therapy. The aim of this study was to determine the therapeutic effect of combination therapy using (177)Lu-octreotate and the Hedgehog signaling pathway inhibitor sonidegib...
August 8, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28780161/synthesis-and-evaluation-of-vitamin-d3-analogues-with-c-11-modifications-as-inhibitors-of-hedgehog-signaling
#9
Chad A Maschinot, M Kyle Hadden
Previous structure-activity relationship studies have provided potent and selective analogues of vitamin D3 as inhibitors of the Hedgehog (Hh) signaling pathway. These analogues contain both modified A- and seco-B ring motifs, and have been evaluated for anticancer therapeutic potential. To continue our studies on this scaffold, a new series of compounds were synthesized to explore additional interactions and spatial constraints. These compounds incorporate functional groups of varying size and hydrophobicity at the C-11 position...
July 24, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28777795/regulation-of-gli-ciliary-localization-and-hedgehog-signaling-by-the-py-nls-karyopherin-%C3%AE-2-nuclear-import-system
#10
Yuhong Han, Yue Xiong, Xuanming Shi, Jiang Wu, Yun Zhao, Jin Jiang
Hedgehog (Hh) signaling in vertebrates depends on primary cilia. Upon stimulation, Hh pathway components, including Gli transcription factors, accumulate at primary cilia to transduce the Hh signal, but the mechanisms underlying their ciliary targeting remains largely unknown. Here, we show that the PY-type nuclear localization signal (PY-NLS)/karyopherinβ2 (Kapβ2) nuclear import system regulates Gli ciliary localization and Hh pathway activation. Mutating the PY-NLS in Gli or knockdown of Kapβ2 diminished Gli ciliary localization...
August 2017: PLoS Biology
https://www.readbyqxmd.com/read/28773923/room-temperature-electroluminescence-from-tensile-strained-si0-13ge0-87-ge-multiple-quantum-wells-on-a-ge-virtual-substrate
#11
Guangyang Lin, Ningli Chen, Lu Zhang, Zhiwei Huang, Wei Huang, Jianyuan Wang, Jianfang Xu, Songyan Chen, Cheng Li
Direct band electroluminescence (EL) from tensile-strained Si0.13Ge0.87/Ge multiple quantum wells (MQWs) on a Ge virtual substrate (VS) at room temperature is reported herein. Due to the competitive result of quantum confinement Stark effect and bandgap narrowing induced by tensile strain in Ge wells, electroluminescence from Γ1-HH1 transition in 12-nm Ge wells was observed at around 1550 nm. As injection current density increases, additional emission shoulders from Γ2-HH2 transition in Ge wells and Ge VS appeared at around 1300-1400 nm and 1600-1700 nm, respectively...
September 27, 2016: Materials
https://www.readbyqxmd.com/read/28768932/efficient-synthesis-of-heterocyclic-flavonoids-with-hedgehog-signal-inhibitory-activity
#12
Midori A Arai, Takao Utsumi, Natsuki Yanase, Teruhisa Fujimatsu, Masami Ishibashi
The hedgehog (Hh) signaling pathway performs important roles in embryonic development and cellular proliferation and differentiation. However, in many cancer cells Hh signaling is aberrantly activated, which has provided a strong impetus for the development of Hh pathway inhibitors. To address this, we synthesized a series of heterocyclic flavonoids and evaluated their Hh signaling inhibitory activity on cancer cell lines using our cell-based assay system. Of the synthetic flavonoids, compounds 4a and g showed good inhibitory activity (IC50 was 16...
2017: Chemical & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28767807/model-of-a-training-program-in-robotic-surgery-and-its-initial-results
#13
Fernando Athayde Veloso Madureira, José Luís Souza Varela, Delta Madureira, Luis Alfredo Vieira D'Almeida, Fábio Athayde Veloso Madureira, Alexandre Miranda Duarte, Otávio Pires Vaz, José Reinan Ramos
Objective: to describe the implementation of a training program in robotic surgery and to point the General Surgery procedures that can be performed with advantages using the robotic platform. Methods: we conducted a retrospective analysis of data collected prospectively from the robotic surgery group in General and Colo-Retal Surgery at the Samaritan Hospital (Rio de Janeiro, Brazil), from October 2012 to December 2015. We describe the training stages and particularities...
May 2017: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/28767690/a-simplified-prevention-bundle-with-dual-hand-hygiene-audit-reduces-early-onset-ventilator-associated-pneumonia-in-cardiovascular-surgery-units-an-interrupted-time-series-analysis
#14
Kang-Cheng Su, Yu Ru Kou, Fang-Chi Lin, Chieh-Hung Wu, Jia-Yih Feng, Shiang-Fen Huang, Tao-Fen Shiung, Kwei-Chun Chung, Yu-Hsiu Tung, Kuang-Yao Yang, Shi-Chuan Chang
BACKGROUND: To investigate the effect of a simplified prevention bundle with alcohol-based, dual hand hygiene (HH) audit on the incidence of early-onset ventilation-associated pneumonia (VAP). METHODS: This 3-year, quasi-experimental study with interrupted time-series analysis was conducted in two cardiovascular surgery intensive care units in a medical center. Unaware external HH audit (eHH) performed by non-unit-based observers was a routine task before and after bundle implementation...
2017: PloS One
https://www.readbyqxmd.com/read/28765604/a-facile-method-of-transforming-fgd-gypsum-to-%C3%AE-caso4%C3%A2-0-5h2o-whiskers-with-cetyltrimethylammonium-bromide-ctab-and-kcl-in-glycerol-water-solution
#15
Qingjun Guan, Wei Sun, Yuehua Hu, Zhigang Yin, Changping Guan
A facile method to transform flue gas desulfurization gypsum (FGD gypsum) to α- calcium sulfate hemihydrate (α-HH) whiskers with high aspect ratios mediated by cetyltrimethylammonium bromide (CTAB) and KCl in glycerol-water solutions was studied. Addition of KCl facilitated the dissolution of calcium sulfate dihydrate (DH) and created a much higher supersaturation, which could come into being a larger driving force for the phase transformation from DH to α-HH. CTAB as the crystal modifier can significantly promoted 1-D growth of α-HH whiskers along the c axis and the presence of 0...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765517/the-hedgehog-gli-pathway-in-embryonic-development-and-cancer-implications-for-pulmonary-oncology-therapy
#16
REVIEW
Armas López Leonel, Zúñiga Joaquín, Arrieta Oscar, Ávila-Moreno Federico
Transcriptional regulation and epigenetic mechanisms closely control gene expression through diverse physiological and pathophysiological processes. These include the development of germ layers and post-natal epithelial cell-tissue differentiation, as well as, involved with the induction, promotion and/or progression of human malignancies.Diverse studies have shed light on the molecular similarities and differences involved in the stages of embryological epithelial development and dedifferentiation processes in malignant tumors of epithelial origin, of which many focus on lung carcinomas...
July 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28765030/relationship-of-a1-segment-hypoplasia-to-the-radiological-and-clinical-outcomes-of-surgical-clipping-anterior-communicating-artery-aneurysm
#17
Fan Yang, Hao Li, Jun Wu, Maogui Li, Xin Chen, Pengjun Jiang, Zhengsong Li, Yong Cao, Shuo Wang
OBJECTIVE: This study aims to assess whether the A1 segment hypoplasia is a risk factor for unfavorable radiological and clinical outcomes of surgical clipping anterior communicating artery (ACoA) aneurysm. METHODS: We retrospectively reviewed 251 patients with ACoA aneurysm who underwent surgical clipping in Beijing Tiantan Hospital between September 2011 and September 2016. Their clinical and radiologic features, as well as clinical outcomes were reviewed. In addition, univariate and multivariate logistic regression analysis was performed to identify independent risk factors for the postoperative infarction and unfavorable clinical outcomes of surgical clipping ACoA aneurysm...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28762944/synaptic-plasticity-through-activation-of-glua3-containing-ampa-receptors
#18
Maria C Renner, Eva Hh Albers, Nicolas Gutierrez-Castellanos, Niels R Reinders, Aile N van Huijstee, Hui Xiong, Tessa R Lodder, Helmut W Kessels
Excitatory synaptic transmission is mediated by AMPA-type glutamate receptors (AMPARs). In CA1 pyramidal neurons of the hippocampus two types of AMPARs predominate: those that contain subunits GluA1 and GluA2 (GluA1/2), and those that contain GluA2 and GluA3 (GluA2/3). Whereas subunits GluA1 and GluA2 have been extensively studied, the contribution of GluA3 to synapse physiology has remained unclear. Here we show in mice that GluA2/3s are in a low-conductance state under basal conditions, and although present at synapses they contribute little to synaptic currents...
August 1, 2017: ELife
https://www.readbyqxmd.com/read/28762039/hypothalamic-hamartoma-presenting-with-infantile-spasms
#19
Uğur Işık, Sema Saltık, Bahattin Tanrıkulu, M Memet Özek
BACKGROUND: Hypothalamic hamartomas (HH) generally present with gelastic seizures. It is very unusual for a pediatric patient with HH to present with infantile spasms (IS). CASE PRESENTATION: Here we present a 6-month-old boy diagnosed with IS whose brain magnetic resonance imaging (MRI) showed an 18 × 18 × 16 mm mass in the hypothalamus. His seizures did not respond to antiepileptic treatment with vigabatrin and valproic acid. He had disconnective surgery for HH...
July 31, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28759213/design-and-evolution-of-a-macrocyclic-peptide-inhibitor-of-the-sonic-hedgehog-patched-interaction
#20
Andrew E Owens, Ivan de Paola, William A Hansen, Yi-Wen Liu, Sagar D Khare, Rudi Fasan
The Hedgehog (Hh) signaling pathway plays a central role during embryonic development and its aber-rant activation has been implicated in the development and progression of several human cancers. Ma-jor efforts toward the identification of chemical modulators of the Hedgehog pathway has yielded sev-eral antagonists of the GPCR-like Smoothened receptor. In contrast, potent inhibitors of the Sonic Hedgehog/Patched interaction, the most upstream event in ligand-induced activation of this signaling pathway, have been elusive...
July 31, 2017: Journal of the American Chemical Society
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