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https://www.readbyqxmd.com/read/28087897/fgfr1-analyses-in-four-patients-with-hypogonadotropic-hypogonadism-with-split-hand-foot-malformation-implications-for-the-promoter-region
#1
Kohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, Yukihiro Hasegawa, Tatsuya Miyoshi, Tomonobu Hasegawa, Hideaki Miyoshi, Hiraku Kameda, Misuzu Kurokawa Seo, Maki Fukami, Tsutomu Ogata
Heterozygous loss-of-function mutations of FGFR1 cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect [c.289G>A, p.(G97S); and c.2231G>C, p.(R744T)], and case 3 had a splice donor site mutation [c.1663+1G>T]. Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved non-coding exon 1U and impaired FGFR1 expression...
January 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28075418/serum-polychlorinated-biphenyls-increase-and-oxidative-stress-decreases-with-a-protein-pacing-caloric-restriction-diet-in-obese-men-and-women
#2
Feng He, Li Zuo, Emery Ward, Paul J Arciero
The purposes were to compare the effects of a: (1) 12-week P-CR weight loss (WL) diet (Phase 1) between obese men and women and; (2) 52-week modified P-CR (mP-CR) vs. heart healthy (HH) weight maintenance (WM) diet (Phase 2) on serum PCBs and oxidative stress biomarkers (thiobarbituric acid reactive substances, TBARS; total antioxidant capacity, TAC) in 40 obese participants (men, n = 21; women, n = 19). Participants received dietary counseling and monitoring of compliance. PCBs, TBARS, and TAC were assessed at weeks -1 (CON), 12 (WL), and 64 (WM)...
January 10, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28074921/heat-related-hospitalizations-in-older-adults-an-amplified-effect-of-the-first-seasonal-heatwave
#3
Alexander Liss, Ruiruo Wu, Kenneth Kwan Ho Chui, Elena N Naumova
Older adults are highly vulnerable to the detriment of extreme weather. The rapid non-linear increase in heat-related morbidity is difficult to quantify, hindering the attribution of direct effects of exposure on severe health outcomes. We examine the effects of ambient temperatures on heat-related hospitalizations (HH) among the elderly in presence of strong seasonality and by assessing the effects caused by the first and subsequent seasonal heatwaves. We empirically derived the thresholds for a heatwave episode in Boston MSA based on 16 years of daily observations...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28073077/hypertext-comprehension-of-deaf-and-hard-of-hearing-students-and-students-with-specific-language-impairment
#4
Helen Blom, Eliane Segers, Daan Hermans, Harry Knoors, Ludo Verhoeven
This paper provides insight into the reading comprehension of hierarchically structured hypertexts within D/HH students and students with SLI. To our knowledge, it is the first study on hypertext comprehension in D/HH students and students with SLI, and it also considers the role of working memory. We compared hypertext versus linear text comprehension in D/HH students and students with SLI versus younger students without language problems who had a similar level of decoding and vocabulary. The results demonstrated no difference in text comprehension between the hierarchically structured hypertext and the linear text...
January 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28062803/posterior-circulation-perforator-aneurysms-a-proposed-management-algorithm
#5
Thomas J Buell, Dale Ding, Daniel M S Raper, Ching-Jen Chen, Harry R Hixson, R Webster Crowley, Avery J Evans, Mary E Jensen, Kenneth C Liu
INTRODUCTION: Subarachnoid hemorrhage (SAH) from posterior circulation perforator aneurysms (PCPAs) is rare and its natural history is unknown. Diagnosis may be difficult, acute management is poorly defined, and long-term recurrent SAH rates and clinical outcome data are lacking. METHODS: We searched our institution's records for cases of PCPA rupture and analyzed patient demographics, Hunt and Hess (HH) grades, diagnostic imaging, management, and clinical outcomes...
January 6, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28054109/-operative-treatment-of-hiatus-hernia-evidence-on-mesh-inlay
#6
F A Granderath
High rates of recurrence in hiatus hernia and antireflux surgery led to the introduction of different methods for diaphragm closure. Prosthetic diaphragm closure with meshes remains a controversial issue in the literature. Available data show lower recurrence rates after prosthetic diaphragm closure; however, there is no clear standard for the indications and technique. Despite the availability of a few prospective randomized trials, a clear recommendation regarding this issue cannot currently be given.
January 4, 2017: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/28053196/goose-embryonic-development-from-oviposition-through-16-hours-of-incubation
#7
E Łukaszewicz, M Lasoń, J Rosenberger, A Kowalczyk, M Bakst
Normal tables provide an objective step-wise description of the morphological development of an embryo. Such tables have been described for the chicken, turkey, quail, and duck embryos, but there is no such staging table for goose embryos. As the goose has one of the longest incubation periods of all the poultry species and embryo mortality during incubation is relatively high, a normal table of goose embryo development would be useful in assessing the morpho-genetic status of the goose embryo before and during incubation...
January 3, 2017: Poultry Science
https://www.readbyqxmd.com/read/28052950/sepsis-and-siderosis-yersinia-enterocolitica-and-hereditary-haemochromatosis
#8
Phoebe A Thwaites, Marion L Woods
A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28039166/an-ensemble-approach-to-protein-fold-classification-by-integration-of-template-based-assignment-and-support-vector-machine-classifier
#9
Jiaqi Xia, Zhenling Peng, Dawei Qi, Hongbo Mu, Jianyi Yang
MOTIVATION: Protein fold classification is a critical step in protein structure prediction. There are two possible ways to classify protein folds. One is through template-based fold assignment and the other is ab-initio prediction using machine learning algorithms. Combination of both solutions to improve the prediction accuracy was never explored before. RESULTS: We developed two algorithms, HH-fold and SVM-fold for protein fold classification. HH-fold is a template-based fold assignment algorithm using the HHsearch program...
December 30, 2016: Bioinformatics
https://www.readbyqxmd.com/read/28035348/nek2a-sufu-feedback-loop-regulates-gli-mediated-hedgehog-signaling-pathway
#10
Fen Zhou, Dengliang Huang, Yong Li, Guanghui Hu, Hai Rao, Quqin Lu, Shiwen Luo, Yao Wang
Suppressor of Fused (SuFu), one of the most conserved components of the Hedgehog (Hh) signaling, binds Gli transcription factors and impedes activation of target gene expression in mammalian cells. Despite the central importance of SuFu in the Hh pathway, little is known about SuFu regulation. In a previous study, we identified NIMA-related expressed kinase 2A (Nek2A) as a SuFu-interacting protein. Here, we show that Nek2A stabilizes SuFu through impairing ubiquitin/proteasome degradation of SuFu. In addition, Nek2A negatively regulates target genes of Hh signaling as well as Gli2 transcriptional activity...
December 23, 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/28034857/draft-whole-genome-sequence-of-the-alkaliphilic-alishewanella-aestuarii-strain-hh-zs-isolated-from-historical-lime-kiln-waste-contaminated-soil
#11
Zohier B Salah, Simon P Rout, Paul N Humphreys
Here, we present the whole-genome sequence of an environmental Gram-negative Alishewanella aestuarii strain (HH-ZS), isolated from the hyperalkaline contaminated soil of a historical lime kiln in Buxton, United Kingdom.
December 29, 2016: Genome Announcements
https://www.readbyqxmd.com/read/28032888/corrigendum-to-high-glucose-concentration-induced-expression-of-pentraxin-3-in-a-rat-model-of-continuous-peritoneal-dialysis
#12
Nana Ishimatsu, Tetsu Miyamoto, Hiromichi Ueno, Emi Hasegawa, Akihiro Kuma, Yoko Fujimoto, Kenichiro Bando, Junichi Nakamata, Yumi Furuno, Ryota Serino, Ryoko Baba, Hiroyuki Morimoto, Yoshiaki Doi, Masahito Tamura, Yutaka Otsuji
This correct the article DOI: 10.14670/HH-11-756.
December 29, 2016: Histology and Histopathology
https://www.readbyqxmd.com/read/28032859/silencing-speckle-type-poz-protein-by-promoter-hypermethylation-decreases-cell-apoptosis-through-upregulating-hedgehog-signaling-pathway-in-colorectal-cancer
#13
Xiaofei Zhi, Jinqiu Tao, Lei Zhang, Ran Tao, Lilin Ma, Jun Qin
Epigenetic silencing of tumor suppressors contributes to the development and progression of colorectal cancer (CRC). We recently found that speckle-type POZ protein (SPOP) was significantly downregulated and the inactivation of SPOP promoted metastasis in CRC. This study aimed to clarify its epigenetic alteration, molecular mechanisms and clinical significance in CRC. Our results revealed that the core region of SPOP promoter was hypermethylated in CRC tissues and its methylation was correlated with poor survival...
December 29, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/28032317/cinnamomulactone-a-new-butyrolactone-from-the-twigs-of-cinnamomum-cassia-and-its-inhibitory-activity-of-matrix-metalloproteinases
#14
Geum Jin Kim, Jong Yeong Lee, Hyun Gyu Choi, So Young Kim, Eonmi Kim, Sang Hee Shim, Joo-Won Nam, Sang-Hyun Kim, Hyukjae Choi
Cinnamomum cassia (Lauraceae) has long been used as one of the most frequently used traditional oriental medicines for the treatment of gastritis, diabetes, blood circulation disturbance and inflammatory diseases. Cinnamomulactone (1), a new butyrolactone was isolated from the twigs of C. cassia together with nine known compounds, coumarin (2), trans-cinnamic acid (3), cinnamaldehyde (4), 2-hydroxycinnamaldehyde (5), 2-methoxycinnamaldehyde (6), 2-hydroxy-cinnamyl alcohol (7), benzoic acid (8), (+)-syringaresinol (9) and phenethyl (E)-3-[4-methoxyphenyl]-2-propenoate (10)...
December 28, 2016: Archives of Pharmacal Research
https://www.readbyqxmd.com/read/28019068/using-iron-studies-to-predict-hfe-mutations-in-new-zealand-implications-for-laboratory-testing
#15
Rebecca O'Toole, Kenneth Romeril, Collette Bromhead
BACKGROUND: The diagnosis of Hereditary Haemochromatosis (HH) is not straightforward since symptoms are often absent or non-specific. Biochemical markers of iron-overloading, may be affected by other conditions. This study measured the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in NZ. METHODS: Results from 2388 patients genotyped for C282Y, H63D and S65C in Wellington NZ from 2007- 2013 were compared to their biochemical phenotype as quantified by SF, transferrin saturation (TS), serum iron (SI) and serum transferrin (ST)...
December 26, 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/28013451/a-new-algorithm-to-reduce-the-incidence-of-gastroesophageal-reflux-symptoms-after-laparoscopic-sleeve-gastrectomy
#16
Ilhan Ece, Huseyin Yilmaz, Fahrettin Acar, Bayram Colak, Serdar Yormaz, Mustafa Sahin
BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) is one of the most prefered treatment option for morbid obesity. However, the effects of LSG on gastroesophageal reflux disease (GERD) are controversial. Asymptomatic GERD and hiatal hernia (HH) is common in obese patients. Therefore, it is important to identify the high risk patients prior to surgery. This study aims to evaluate efficacy of cruroplasty for HH during LSG in morbidly obese patients using ambulatory pH monitoring (APM) results, and to investigate the patients' selection criteria for this procedure...
December 24, 2016: Obesity Surgery
https://www.readbyqxmd.com/read/28009972/inhibition-of-the-hedgehog-pathway-leads-to-antifibrotic-effects-in-dermal-fibrosis
#17
Hua-Li Cao, Jiong Zhou, Xi-Bei Chen, Lilla Landeck, Jian-Qiang Yang, Jia-Qi Chen, Wei Li, Sui-Qing Cai, Min Zheng, Xiao-Yong Man
Dermal fibrosis is characterized by the activation of the matrix-producing 'positive' myofibroblasts, and the relentless production and deposition of extracellular matrix. The hedgehog pathway has recently been demonstrated to work in a pro-fibrotic manner in systemic sclerosis (SSc). A negative regulator of the hedgehog pathway (Hh), the suppressor of fused (Sufu), was shown to be involved in the activation of fibrotic diseases. However, the exact role of Sufu in fibrosis has not been investigated so far. In our study, we aimed to define the role of sufu in the process of fibrosis using dermal fibroblasts of healthy donors that were cultured in vitro...
November 2016: Discovery Medicine
https://www.readbyqxmd.com/read/28008932/timing-and-quality-of-sleep-in-a-rural-brazilian-family-based-cohort-the-baependi-heart-study
#18
F Beijamini, K L Knutson, G Lorenzi-Filho, K J Egan, T P Taporoski, L K G De Paula, A B Negrão, A R V R Horimoto, N E Duarte, H Vallada, J E Krieger, M Pedrazzoli, A C Pereira, M von Schantz
Sleep is modulated by several factors, including sex, age, and chronotype. It has been hypothesised that contemporary urban populations are under pressure towards shorter sleep duration and poorer sleep quality. Baependi is a small town in Brazil that provides a window of opportunity to study the influence of sleep patterns in a highly admixed rural population with a conservative lifestyle. We evaluated sleep characteristics, excessive daytime sleepiness, and chronotype using the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale and Morningness-Eveningness Questionnaire questionnaires, respectively...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28008864/idiopathic-hypogonadothropic-hypogonadism-due-to-novel-fgfr1-mutations
#19
Gamze Akkuş, Damla Kotan, Erdem Durmaz, Eda Mengen, İhsan Turan, Ayça Ulubay, Fatih Gürbüz, Bilgin Yüksel, Tamer Tetiker, Ali Kemal Topaloğlu
OBJECTIVE: Underlying genetic etiology of Hypogonadothropic Hypogonadism (HH) is heterogenous. Fibroblast growth factor signaling is pivotal in the ontogeny of GnRH neurons. Loss of function mutations inFGFR1 gene cause variable hypogonadothropic hypogonadism phenotype encompassing pubertal delay to IHH or KS. As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management. METHODS: Using a candidate gene approach we screened 52 IHH/KS patients...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28007792/association-between-sleep-apnoea-and-pulmonary-hypertension-in-kyrgyz-highlanders
#20
Tsogyal D Latshang, Michael Furian, Sayaka S Aeschbacher, Silvia Ulrich, Batyr Osmonov, Erkin M Mirrakhimov, Jainagul Isakova, Almaz A Aldashev, Talant M Sooronbaev, Konrad E Bloch
This case-control study evaluates a possible association between high altitude pulmonary hypertension (HAPH) and sleep apnoea in people living at high altitude.Ninety highlanders living at altitudes >2500 m without excessive erythrocytosis and with normal spirometry were studied at 3250 m (Aksay, Kyrgyzstan); 34 healthy lowlanders living below 800 m were studied at 760 m (Bishkek, Kyrgyzstan). Echocardiography, polysomnography and other outcomes were assessed. Thirty-six highlanders with elevated mean pulmonary artery pressure (mPAP) >30 mmHg (31-42 mmHg by echocardiography) were designated as HAPH+...
December 22, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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