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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635959/optogenetic-activation-of-plexin-b1-reveals-contact-repulsion-between-osteoclasts-and-osteoblasts
#2
Abhijit Deb Roy, Taofei Yin, Shilpa Choudhary, Vladimir Rodionov, Carol C Pilbeam, Yi I Wu
During bone remodelling, osteoclasts induce chemotaxis of osteoblasts and yet maintain spatial segregation. We show that osteoclasts express the repulsive guidance factor Semaphorin 4D and induce contact inhibition of locomotion (CIL) in osteoblasts through its receptor Plexin-B1. To examine causality and elucidate how localized Plexin-B1 stimulation may spatiotemporally coordinate its downstream targets in guiding cell migration, we develop an optogenetic tool for Plexin-B1 designated optoPlexin. Precise optoPlexin activation at the leading edge of migrating osteoblasts readily induces local retraction and, unexpectedly, distal protrusions to steer cells away...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28634668/black-and-white-snub-nosed-monkey-rhinopithecus-bieti-feeding-behavior-in-a-degraded-forest-fragment-clues-to-a-stressed-population
#3
Zhi-Pang Huang, Matthew B Scott, Yan-Peng Li, Guo-Peng Ren, Zuo-Fu Xiang, Liang-Wei Cui, Wen Xiao
Rapid global deforestation has forced many of the world's primates to live in fragmented habitats, making the understanding of their behavioral responses to degraded and fragmented habitats a key challenge for their future protection and management. The black-and-white snub-nosed monkey (Rhinopithecus bieti) is an endangered species endemic to southwest China. The forest habitat ranges from near-continuous to fragmented. In this study, we investigated the activity budget and diet of a R. bieti population that live in an isolated and degraded habitat patch at Mt...
June 20, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28634302/structure-of-human-fe-s-assembly-subcomplex-reveals-unexpected-cysteine-desulfurase-architecture-and-acyl-acp-isd11-interactions
#4
Seth A Cory, Jonathan G Van Vranken, Edward J Brignole, Shachin Patra, Dennis R Winge, Catherine L Drennan, Jared Rutter, David P Barondeau
In eukaryotes, sulfur is mobilized for incorporation into multiple biosynthetic pathways by a cysteine desulfurase complex that consists of a catalytic subunit (NFS1), LYR protein (ISD11), and acyl carrier protein (ACP). This NFS1-ISD11-ACP (SDA) complex forms the core of the iron-sulfur (Fe-S) assembly complex and associates with assembly proteins ISCU2, frataxin (FXN), and ferredoxin to synthesize Fe-S clusters. Here we present crystallographic and electron microscopic structures of the SDA complex coupled to enzyme kinetic and cell-based studies to provide structure-function properties of a mitochondrial cysteine desulfurase...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28634209/genetic-evidence-that-%C3%AE-arrestins-are-dispensable-for-the-initiation-of-%C3%AE-2-adrenergic-receptor-signaling-to-erk
#5
Morgan O'Hayre, Kelsie Eichel, Silvia Avino, Xuefeng Zhao, Dana J Steffen, Xiaodong Feng, Kouki Kawakami, Junken Aoki, Karen Messer, Roger Sunahara, Asuka Inoue, Mark von Zastrow, J Silvio Gutkind
The β2-adrenergic receptor (β2AR) has provided a paradigm to elucidate how G protein-coupled receptors (GPCRs) control intracellular signaling, including the discovery that β-arrestins, which bind to ligand-activated GPCRs, are central for GPCR function. We used genome editing, conditional gene deletion, and small interfering RNAs (siRNAs) to determine the roles of β-arrestin 1 (β-arr1) and β-arr2 in β2AR internalization, trafficking, and signaling to ERK. We found that only β-arr2 was essential for β2AR internalization...
June 20, 2017: Science Signaling
https://www.readbyqxmd.com/read/28634160/high-throughput-characterization-of-cascade-type-i-e-crispr-guide-efficacy-reveals-unexpected-pam-diversity-and-target-sequence-preferences
#6
Becky Xu Hua Fu, Michael Wainberg, Anshul Kundaje, Andrew Z Fire
Interactions between Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) RNAs and CRISPR-associated (Cas) proteins form an RNA-guided adaptive immune system in prokaryotes. The adaptive immune system utilizes segments of the genetic material of invasive foreign elements in the CRISPR locus. The loci are transcribed and processed to produce small CRISPR RNAs (crRNAs), with degradation of invading genetic material directed by a combination of complementarity between RNA and DNA and in some cases recognition of adjacent motifs called PAMs (Protospacer Adjacent Motifs)...
June 20, 2017: Genetics
https://www.readbyqxmd.com/read/28634092/alarmingly-high-rate-of-implant-fractures-in-one-modular-femoral-stem-design-a-comparison-of-two-implants
#7
Ritesh R Shah, Jeffrey M Goldstein, Nancy E Cipparrone, Alexander C Gordon, Matthew L Jimenez, Wayne M Goldstein
BACKGROUND: Reports of implant fracture at the modular junction have been seen in modular neck designs, stem-sleeve modular femoral stems, and diaphyseal engaging bi-body modular stems. To date, however, there has never been a direct comparison between 2 different implant designs from the same modular family. The purpose of this study is to compare the rate of implant failure of 2 such stem-sleeve modular femoral stem designs, the S-ROM and Emperion, to further identify factors which increase the risk of this mode of failure...
May 22, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28633757/the-relationship-between-circulating-mitochondrial-dna-and-inflammatory-cytokines-in-patients-with-major-depression
#8
Yuki Kageyama, Takaoki Kasahara, Masaki Kato, Shiho Sakai, Yasuhiko Deguchi, Munehide Tani, Kenji Kuroda, Kotaro Hattori, Sumiko Yoshida, Yuichi Goto, Toshihiko Kinoshita, Koki Inoue, Tadafumi Kato
BACKGROUND: Although inflammatory cytokines are established biomarkers of mood disorders, their molecular mechanism is not known. We hypothesized that circulating mitochondrial DNA (mtDNA) contributes to inflammation and could be used as biomarkers. We investigated if circulating mtDNA level is associated with inflammatory cytokines and can be used as a biomarker of mood disorders. METHODS: Plasma mtDNA concentration was measured with real-time quantitative PCR targeting two regions of the mtDNA and plasma levels of four cytokines (GM-CSF, IL-2, IL-4, and IL-6) were measured with a multiplex immunoassay method in 109 patients with major depressive disorder (MDD)...
June 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28633392/can-estimation-of-sodium-intake-be-improved-by-borrowing-information-from-other-variables
#9
Lawrence J Appel, David R Jacobs
Estimation of dietary sodium intake is problematic. The most accurate measure is average sodium excretion from multiple 24 hour urine collections, but such an approach is impractical. Using data from the Women's Health Initiative, Prentice and colleagues assessed the relationship of calibrated estimates of sodium and potassium excretion with cardiovascular outcomes. The calibrated estimates are a function of self-reported sodium/potassium ratio from a food frequency questionnaire, age, body mass index, race, supplement use, smoking status, education, income, and aspirin use...
June 14, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28633361/evolution-of-mirna-tailing-by-3-terminal-uridylyl-transferases-in-metazoa
#10
Vengamanaidu Modepalli, Yehu Moran
In bilaterian animals the 3' ends of microRNAs (miRNAs) are frequently modified by tailing and trimming. These modifications affect miRNA-mediated gene regulation by modulating miRNA stability. Here we analyzed data from three non-bilaterian animals: two cnidarians (Nematostella vectensis and Hydra magnipapillata) and one poriferan (Amphimedon queenslandica). Our analysis revealed that non-bilaterian miRNAs frequently undergo modifications like the bilaterian counterparts: the majority are expressed as different length isoforms and frequent modifications of the 3' end by mono U or mono A tailing are observed...
June 14, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28633173/exploring-residents-skills-in-diagnosing-dementia-the-unexpected-dissonance-between-ability-and-confidence
#11
Brian S Lerner, Virginia Kalish, Christy J W Ledford
BACKGROUND AND OBJECTIVES: The diagnosis of dementia is a challenge for physicians due to numerous interrelated barriers. Research shows that this difficulty may be rooted in an incomplete knowledge about dementia. To address this gap, we developed an assessment scale of resident confidence in the diagnosis of dementia and used it to compare resident confidence to their practical ability to diagnose dementia. METHODS: The study used a piloted confidence assessment tool for diagnosing dementia correlated with family medicine residents (n=45) performance during an objective structured clinical examination (OSCE)...
June 2017: Family Medicine
https://www.readbyqxmd.com/read/28633090/pulmonary-and-cardiac-pathology-in-sudden-unexpected-death-in-epilepsy-sudep
#12
REVIEW
Fábio A Nascimento, Zian H Tseng, Cristian Palmiere, Joseph J Maleszewski, Takayuki Shiomi, Aileen McCrillis, Orrin Devinsky
OBJECTIVE: To review studies on structural pulmonary and cardiac changes in SUDEP cases as well as studies showing pulmonary or cardiac structural changes in living epilepsy patients. METHODS: We conducted electronic literature searches using the PubMed database for articles published in English, regardless of publication year, that included data on cardiac and/or pulmonary structural abnormalities in SUDEP cases or in living epilepsy patients during the postictal period...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28632393/the-antinociceptive-agent-sbfi-26-binds-to-anandamide-transporters-fabp5-and-fabp7-at-two-different-sites
#13
Hao-Chi Hsu, Simon Tong, Yuchen Zhou, Matthew W Elmes, Su Yan, Martin Kaczocha, Dale G Deutsch, Robert C Rizzo, Iwao Ojima, Huilin Li
Human FABP5 and FABP7 are intracellular endocannabinoid transporters. SBFI-26 is an -truxillic acid 1-naphthyl monoester that competitively inhibits the activities of FABP5 and FABP7 and produces antinociceptive and anti-inflammatory effects in mice. The synthesis of SBFI-26 yields several stereoisomers, and it is not known how the inhibitor binds the transporters. Here we report co-crystal structures of SBFI-26 in complex with human FABP5 and FABP7 at a resolution of 2.2 Å and 1.9 Å, respectively. We found that only (S)-SBFI-26 was present in the crystal structures...
June 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28632329/postictal-hypoperfusion-hypoxia-provides-the-foundation-for-a-unified-theory-of-seizure-induced-brain-abnormalities-and-behavioral-dysfunction
#14
REVIEW
Jordan S Farrell, Roberto Colangeli, Marshal D Wolff, Alexandra K Wall, Thomas J Phillips, Antis George, Paolo Federico, G Campbell Teskey
A recent article by Farrell et al. characterizes the phenomenon, mechanisms, and treatment of a local and severe hypoperfusion/hypoxia event that occurs in brain regions following a focal seizure. Given the well-established role of cerebral ischemia/hypoxia in brain damage and behavioral dysfunction in other clinical settings (e.g., stroke, cerebral vasospasm), we put forward a new theory: postictal hypoperfusion/hypoxia is responsible for the negative consequences associated with seizures. Fortunately, inhibition of two separate molecular targets, cyclooxygenase-2 (COX-2) and l-type calcium channels, can prevent the expression of postictal hypoperfusion/hypoxia...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28632100/when-an-object-appears-unexpectedly-object-circumvention-in-adults
#15
Kate Wilmut, Wenchong Du, Anna L Barnett
Obstacles often appear unexpectedly in our pathway and these require us to make immediate adjustments. Despite how regularly we encounter such situations only few studies have considered how we adjust to unexpected obstacles in the pathway that require us to walk around them. The authors considered how adults adjust to the possibility of an obstacle appearing and then also how foot placement is adjusted to circumvent an obstacle. Fifteen healthy adults walked down an 11-m walkway, initially they were told this was a clear pathway and nothing in the environment would change (no gate), they then performed a series of trials in which a gate may (gate close) or may not (gate open) partially obstruct their pathway...
March 1, 2017: Journal of Motor Behavior
https://www.readbyqxmd.com/read/28631659/subcutaneous-cysticercosis-presenting-as-cervical-swelling-amazing-and-unexpected-cytological-findings
#16
Punam Prasad Bhadani, Iffat Jamal, Shashikant Kumar, Shuchi Smita
No abstract text is available yet for this article.
April 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28631441/genetic-landscape-and-deregulated-pathways-in-b-cell-lymphoid-malignancies
#17
R Rosenquist, S Beà, M-Q Du, B Nadel, Q Pan-Hammarström
With the introduction of next-generation sequencing, the genetic landscape of the complex group of B-cell lymphoid malignancies has rapidly been unravelled in recent years. This has provided important information about recurrent genetic events and identified key pathways deregulated in each lymphoma subtype. In parallel, there has been intense search and development of novel types of targeted therapy that 'hit' central mechanisms in lymphoma pathobiology, such as BTK, PI3K or BCL2 inhibitors. In this review, we will outline the current view of the genetic landscape of selected entities: follicular lymphoma, diffuse large B-cell lymphoma, mantle cell lymphoma, chronic lymphocytic leukaemia and marginal zone lymphoma...
June 20, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28631247/choice-of-reserve-capacity-by-hospitals-a-problem-for-prospective-payment
#18
Philippe K Widmer, Maria Trottmann, Peter Zweifel
This contribution analyzes the impact of prospective payment on hospital decisions with regard to reserve capacity, using Swiss hospital data covering the years 2004-2009. This data set is unique because it permits distinguishing of institutional characteristics (e.g., ownership status) from the mode of payment as determinants of hospital efficiency, due to the fact that some Swiss cantons introduced prospective payment early while others waited for federal legislation to be enacted in 2012. Since a hospital's choice of reserve capacity depends also on the risk preferences of management while affecting the cost function, heterogeneity is predicted even in the presence of identical technology and factor prices...
June 19, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/28630389/a-case-report-of-the-first-ganglioneuroblastoma-of-the-parotid-gland-of-an-the-adult
#19
Aldo Bove, Rossana Percario, Andrea De Carlo, Barbara Zappacosta
The ganglioneuroblastoma is a rare form of pediatric tumor, involving innerved tissues of the nervous sympathetic system, whose evolution is very hard to foresee. A 38 year-old patient whose histologic exam unexpectedly showed ganglioneuroblastoma, underwent a parotidectomy. Three years after surgery the patient is in optimal clinical conditions, without any radiological signs or clinical relapses. KEY WORDS: Ganglioneuroblastoma, Parotid gland, Parodidectomy.
May 26, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28630133/dual-regulation-of-gluconeogenesis-by-insulin-and-glucose-in-the-proximal-tubules-of-the-kidney
#20
Motohiro Sasaki, Takayoshi Sasako, Naoto Kubota, Yoshitaka Sakurai, Iseki Takamoto, Tetsuya Kubota, Reiko Inagi, George Seki, Moritaka Goto, Kohjiro Ueki, Masaomi Nangaku, Takahito Jomori, Takashi Kadowaki
Growing attention has been focused on the roles of the proximal tubules (PTs) of the kidney in glucose metabolism, including the mechanism of regulation of gluconeogenesis. Here, we found that PT-specific IRS1/2 double-knockout mice, established by using the newly generated sodium-glucose cotransporter-2 (SGLT2)-Cre transgenic mice, exhibited impaired insulin signaling and upregulated gluconeogenic gene expression and renal gluconeogenesis, resulting in systemic insulin resistance. On the other hand, in streptozotocin-treated mice, although insulin action was impaired in the PTs, the gluconeogenic gene expression was unexpectedly downregulated in the renal cortex, which was restored by administration of an SGLT1/2 inhibitor...
June 19, 2017: Diabetes
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