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https://www.readbyqxmd.com/read/28530551/angular-velocity-integration-in-a-fly-heading-circuit
#1
Daniel Turner-Evans, Stephanie Wegener, Hervé Rouault, Romain Franconville, Tanya Wolff, Johannes D Seelig, Shaul Druckmann, Vivek Jayaraman
Many animals maintain an internal representation of their heading as they move through their surroundings. Such a compass representation was recently discovered in a neural population in the Drosophila melanogaster central complex, a brain region implicated in spatial navigation. Here, we use two-photon calcium imaging and electrophysiology in head-fixed walking flies to identify a different neural population that conjunctively encodes heading and angular velocity, and is excited selectively by turns in either the clockwise or counterclockwise direction...
May 22, 2017: ELife
https://www.readbyqxmd.com/read/28511494/eyelid-malignancies-always-quite-challenging
#2
Arumugham Balasubramanian, Narayanasamy Subbaraju Kannan
The diagnosis and management of eyelid cancers are quite challenging. Eyelid tumours are relatively rare diverse group of diseases varied in their presentation and extent. Many benign tumours and inflammatory conditions quite frequently masquerade eyelid cancers. Eyelid cancers are not single entity but comprise a wide range of tumours with extremes of tumour biology from indolent to very aggressive histopathologic types. Compromise on aesthetics and eyelids' indispensable function of protecting the eyes during management, may lead to untoward cosmetic disfigurement and loss of vision...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28505006/myopericytomatosis-clinicopathologic-analysis-of-11-cases-with-molecular-identification-of-recurrent-pdgfrb-alterations-in-myopericytomatosis-and-myopericytoma
#3
Yin P Hung, Christopher D M Fletcher
Myopericytoma is a benign tumor of concentrically distributed perivascular myoid cells. Its molecular basis and relationship with myofibroma/myofibromatosis and other pericytic tumors are not fully understood. In our consultation/surgical files of over 1000 myopericytic lesions, we identified 11 cases with diffuse dermal/subcutaneous involvement by microscopic myopericytomatous nodules, a phenomenon we have termed myopericytomatosis. Myopericytomatosis affected mostly adults (female:male=8:3; median age, 37 y; range, 9 to 63 y) in the lower extremities (foot/ankle, 5; calf, 3; knee, 1; thigh, 1; neck, 1) over months to 25 years, ranging from 1...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28497706/striking-ethnic-variations-in-the-epidemiology-of-chlamydia-trachomatis-in-haifa-district-israel-throughout-the-years-2001-2015
#4
Khalaf Kridin, Mogher Khamaisi, Shmuel Rishpon, Rami Grifat
Our objectives were to examine trends in the incidence of chlamydia over an extended period and compare the epidemiology of the infection between two distinct ethnic groups in Israel: Jews and Arabs. We examined the incidence rate of Chlamydia trachomatis infection among residents of Haifa District, northern Israel from 2001 to 2015, by reviewing archives of the Department of Epidemiology, Ministry of Health. Notified cases were stratified by age group, gender, and ethnic group. The overall incidence rate of Chlamydia was 10...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28480154/congenital-tracheobronchomegaly-mounier-kuhn-syndrome-in-a-woman-with-human-immunodeficiency-virus-a-case-report
#5
Amanda Fletcher, Justin Stowell, Socrates Jamoulis
Congenital tracheobronchomegaly (Mounier-Kuhn Syndrome, MKS) is a rare idiopathic disorder characterized by dilation of the central airways, including the trachea and first through fourth order bronchi. MKS disproportionately affects men and results in chronic respiratory tract infections. The diagnosis is made through the synthesis of clinical and radiological data. Here we report a unique case of MKS in a patient with human immunodeficiency virus (HIV) infection. A 45-year-old African American woman with a past medical history of HIV, tobacco and recreational drug abuse, chronic obstructive pulmonary disease, sleep apnea, and a 15-year history of recurrent respiratory infections presented with dyspnea, wheezing, a productive cough, increased yellow-green sputum production, and subjective fevers...
April 4, 2017: Curēus
https://www.readbyqxmd.com/read/28475518/palisaded-neutrophilic-and-granulomatous-dermatitis-interstitial-granulomatous-dermatitis-overlap-a-striking-clinical-and-histologic-presentation-with-burning-rope-sign-and-subsequent-mirror-image-contralateral-recurrence
#6
Malan Kern, Mallory B Shiver, Kristen M Addis, Jerad M Gardner
Palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis are uncommon granulomatous dermatoses that often arise in association with rheumatoid arthritis. These 2 entities have overlapping features and may exist on a spectrum. We report an intriguing case of a 53-year-old man with advanced rheumatoid arthritis who presented with a large indurated painful truncal plaque with a palpable cord in addition to a papulonodular eruption on his dorsal hands. Furthermore, our patient had a recurrence in a near-identical mirror-image pattern on the contralateral trunk...
April 27, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28466652/a-genetic-clock-variant-associated-with-cluster-headache-causing-increased-mrna-levels
#7
Carmen Fourier, Caroline Ran, Margret Zinnegger, Anne-Sofie Johansson, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin
Background Cluster headache is characterized by recurrent unilateral headache attacks of severe intensity. One of the main features in a majority of patients is a striking rhythmicity of attacks. The CLOCK ( Circadian Locomotor Output Cycles Kaput) gene encodes a transcription factor that serves as a basic driving force for circadian rhythm in humans and is therefore particularly interesting as a candidate gene for cluster headache. Methods We performed an association study on a large Swedish cluster headache case-control sample (449 patients and 677 controls) screening for three single nucleotide polymorphisms (SNPs) in the CLOCK gene implicated in diurnal preference (rs1801260) or sleep duration (rs11932595 and rs12649507), respectively...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28442298/how-to-study-and-overcome-tumor-heterogeneity-with-circulating-biomarkers-the-breast-cancer-case
#8
REVIEW
Valentina Appierto, Serena Di Cosimo, Carolina Reduzzi, Valentina Pala, Vera Cappelletti, Maria Grazia Daidone
Breast cancer ranks first among female cancer-related deaths in Western countries. As the primary tumor can often be controlled by surgical resection, the survival of women with breast cancer is closely linked to the incidence of distant metastases. Molecular screening by next generation sequencing highlighted the spatial and temporal heterogeneity of solid tumors as well as the clonal evolution of cancer cells during progression and under treatment pressure. Such findings question whether an optimal assessment of disease progression and a screening for druggable mutations should be based on molecular features of primary or recurrent/metastatic lesions and therefore represent a crucial element for failure or success of personalized medicine...
April 22, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28422840/case-report-a-female-case-of-isolated-igg4-related-sclerosing-cholangitis-mimicking-cholangiocarcinoma
#9
Jianchun Xiao, Guanqiao Li, Gang Yang, Congwei Jia, Binglu Li
RATIONALE: IgG4-related disease is a newly recognized fibroinflammatory disorder, characterized by tumefactive lesions, storiform fibrosis and IgG4-positive plasma cells infiltration. IgG4-related sclerosing cholangitis (IgG4-SC) is the most common extrapancreatic manifestation of IgG4-related disease, but it is frequently associated with autoimmune pancreatitis(AIP). Only few case was reported to be diagnosed with IgG4-SC in the absence of AIP, with a striking male preponderance. Here we report a female case of isolated IgG4 related sclerosing cholangitis mimicking cholangiocarcinoma...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28403691/novel-nlrc4-mutation-causes-a-syndrome-of-perinatal-autoinflammation-with-hemophagocytic-lymphohistiocytosis-hepatosplenomegaly-fetal-thrombotic-vasculopathy-and-congenital-anemia-and-ascites
#10
Jiancong Liang, Danielle N Alfano, James E Squires, Melissa M Riley, W Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jennifer Picarsic
Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of "secondary" HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28399693/pembrolizumab-in-recurrent-advanced-cervical-squamous-carcinoma
#11
Pablo Martínez, Josep María Del Campo
No definitive cure is known for recurrent, persistent or metastatic cervical carcinoma. Chemotherapy remains the standard of care, although available options are scarce and do not provide satisfactory results. Immune checkpoint inhibitors have shown a strong and prolonged response in several types of cancer, although only in a subset of patients. Defining the profile of the patients likely to benefit from such treatment is a subject of active research. Here, we present a case of a heavily pretreated patient with recurrent advanced squamous cell carcinoma of the cervix who had exhausted all available treatment options and showed a striking response to the immune checkpoint inhibitor pembrolizumab...
May 2017: Immunotherapy
https://www.readbyqxmd.com/read/28385781/monitoring-of-multiple-myeloma-by-quantification-of-recurrent-mutations-in-serum
#12
Even Holth Rustad, Eivind Coward, Emilie R Skytøen, Kristine Misund, Toril Holien, Therese Standal, Magne Børset, Vidar Beisvag, Ola Myklebost, Leonardo A Meza-Zepeda, Hong Yan Dai, Anders Sundan, Anders Waage
Circulating tumor DNA (ctDNA) is a promising biomarker to monitor tumor load and genome alterations. We have explored the presence of ctDNA in multiple myeloma patients and its relation to disease activity during long-term follow-up. We used digital droplet PCR to monitor recurrent mutations, mainly in mitogen activated protein kinase pathway genes NRAS, KRAS and BRAF. Mutations were identified by next generation sequencing or PCR of bone marrow plasma cells, and their presence analyzed in 251 archived serum samples obtained from 20 patients during up to 7 years...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28381589/moving-beyond-managing-realized-genomic-relationship-in-long-term-genomic-selection
#13
Herman De Beukelaer, Yvonne Badke, Veerle Fack, Geert De Meyer
Long-term genomic selection (GS) requires strategies that balance genetic gain with population diversity, to sustain progress for traits under selection and to keep diversity for future breeding. In a simulation model for a recurrent selection scheme we provide the first head-to-head comparison of two such existing strategies: genomic optimal contributions selection (GOCS) that limits realized genomic relationship among selection candidates, and weighted genomic selection (WGS) that upscales rare allele effects in GS...
April 4, 2017: Genetics
https://www.readbyqxmd.com/read/28380698/myoclonus-epilepsy-and-ataxia-due-to-kcnc1-mutation-analysis-of-20-cases-and-k-channel-properties
#14
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, João Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, Eva Andermann, Krystyna Spodar, Anetta Lasek-Bal, Patrizia Riguzzi, Elena Pasini, Paolo Tinuper, Laura Licchetta, Elena Gardella, Matthias Lindenau, Annette Wulf, Rikke S Møller, Felix Benninger, Zaid Afawi, Guido Rubboli, Christopher A Reid, Snezana Maljevic, Holger Lerche, Anna-Elina Lehesjoki, Steven Petrou, Samuel F Berkovic
OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium (K(+) ) channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analysed clinical, electroclinical and neuroimaging data for twenty patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch clamp to explore biophysical properties of wild-type and mutant KV 3...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28368924/smarcb1-ini1-loss-in-epithelioid-schwannoma-a-clinicopathologic-and-immunohistochemical-study-of-65-cases
#15
Vickie Y Jo, Christopher D M Fletcher
The epithelioid variant of schwannoma is rare, and loss of SMARCB1/INI1 expression has been observed in a subset of cases. Our aim was to further define the clinicopathologic features and to evaluate SMARCB1/INI1 deficiency in a large cohort of 65 epithelioid schwannomas diagnosed between 2002 and 2015, which consisted of 32 men and 33 women with median age at diagnosis of 45 years (range, 13 to 75 y). Most tumors arose in the extremities (upper, 20, lower, 15) and trunk (17); 9 were visceral (8 gastrointestinal)...
March 31, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28364933/when-technical-achievements-aren-t-enough-lessons-learned-from-efforts-to-catalyze-policy-action-on-supply-chain-in-senegal
#16
Modibo Dicko, Batouo Souare, Lamine Cisse Sarr, Babacar Gueye
Before 2013, Senegal public health supply system was pull-based and fully public-run. Lengthy and recurrent stockouts of essential health products (incl. contraceptives) were the rule, not the exception as they used to strike more than 80% of public service delivery points (SDPs). Following a successful pilot in two districts in 2012, the Senegalese Ministry of Health and Social Action (MSAS) implemented the Informed Push Model (IPM) Project (2013-2016). In its first two years, IPM bridged key gaps and expanded the distribution of contraceptives by private third party logistics operators to all public SDPs in Senegal and nearly eliminated stockouts...
April 19, 2017: Vaccine
https://www.readbyqxmd.com/read/28344578/on-how-fas-apoptosis-independent-pathways-drive-t-cell-hyperproliferation-and-lymphadenopathy-in-lpr-mice
#17
Dimitrios Balomenos, Rahman Shokri, Lidia Daszkiewicz, Cristina Vázquez-Mateo, Carlos Martínez-A
Fas induces massive apoptosis in T cells after repeated in vitro T cell receptor (TCR) stimulation and is critical for lymphocyte homeostasis in Fas-deficient (lpr) mice. Although the in vitro Fas apoptotic mechanism has been defined, there is a large conceptual gap between this in vitro phenomenon and the pathway that leads to in vivo development of lymphadenopathy and autoimmunity. A striking abnormality in lpr mice is the excessive proliferation of CD4(+) and CD8(+) T cells, and more so of the double-negative TCR(+)CD4(-)CD8(-)B220(+) T cells...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28329395/long-term-symptom-improvement-and-patient-satisfaction-following-catheter-ablation-of-supraventricular-tachycardia-insights-from-the-german-ablation-registry
#18
Johannes Brachmann, Thorsten Lewalter, Karl-Heinz Kuck, Dietrich Andresen, Stephan Willems, Stefan G Spitzer, Florian Straube, Burghard Schumacher, Lars Eckardt, Dejan Danilovic, Dierk Thomas, Matthias Hochadel, Jochen Senges
Aims: To analyse outcomes of supraventricular tachycardia (SVT) ablations performed within a prospective German Ablation Quality Registry. Methods and results: Data from 12 566 patients who underwent catheter ablation of SVT between January 2007 and January 2010 to treat atrial fibrillation (AFIB, 37.2% of procedures), atrial flutter (AFL, 29.9%), atrioventricular nodal re-entrant tachycardia (AVNRT, 23.2%), atrioventricular re-entrant tachycardia (6.3%), and focal atrial tachycardia (AT, 3...
May 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28326740/successful-pregnancy-after-intralipid-addition-to-sildenafil-and-enoxaparin-in-woman-with-history-of-recurrent-pregnancy-loss-rpl
#19
Malgorzata Jerzak, Monika Szafarowska, Monika Kniotek, Andrzej Gorski
OBJECTIVES: Does addition of Intralipid to sildenafil and enoxaparin immunotherapy improve pregnancy outcome? MATERIALS AND METHOD: Report of a striking case of a patient with history of 4 recurrent pregnancy losses (RPL) and IVF failures. RESULTS: Adding of Intralipid resulted in giving birth to a healthy male baby in the 3th IVF cycle. CONCLUSION: Combination therapy that includes Intralipid may generate successful IVF outcome, although this problem merits further study, especially regarding safety issues...
December 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28292441/spop-mutation-drives-prostate-tumorigenesis-in%C3%A2-vivo-through-coordinate-regulation-of-pi3k-mtor-and-ar-signaling
#20
Mirjam Blattner, Deli Liu, Brian D Robinson, Dennis Huang, Anton Poliakov, Dong Gao, Srilakshmi Nataraj, Lesa D Deonarine, Michael A Augello, Verena Sailer, Lalit Ponnala, Michael Ittmann, Arul M Chinnaiyan, Andrea Sboner, Yu Chen, Mark A Rubin, Christopher E Barbieri
Recurrent point mutations in SPOP define a distinct molecular subclass of prostate cancer. Here, we describe a mouse model showing that mutant SPOP drives prostate tumorigenesis in vivo. Conditional expression of mutant SPOP in the prostate dramatically altered phenotypes in the setting of Pten loss, with early neoplastic lesions (high-grade prostatic intraepithelial neoplasia) with striking nuclear atypia and invasive, poorly differentiated carcinoma. In mouse prostate organoids, mutant SPOP drove increased proliferation and a transcriptional signature consistent with human prostate cancer...
March 13, 2017: Cancer Cell
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