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https://www.readbyqxmd.com/read/28936998/venous-thromboembolism-due-to-hyperhomocysteinaemia-and-tuberculosis
#1
Ankush Chaudhary, Unnati Desai, Jyotsna M Joshi
An 18-year-old male presented to our hospital with complaints of episodic abdominal pain, dry cough and right pleuritic chest pain. He was diagnosed as a case of right tuberculous pleural effusion on the basis of the pleural fluid Genexpert report of Mycobacterium tuberculosis detected sensitive to rifampicin and was started on antituberculous therapy. Forty-five days later, he presented with acute onset breathlessness, swelling of the right leg, streaky haemoptysis and a fresh left-sided pleural effusion. Evaluation revealed venous thromboembolism (right lower lobar segment pulmonary embolism with right leg deep vein thrombosis)...
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28932990/treatment-opportunities-in-patients-with-metabolic-myopathies
#2
REVIEW
Mette Cathrine Ørngreen, John Vissing
Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options...
September 21, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28929041/severe-late-toxicity-after-adjuvant-breast-radiotherapy-in-a-patient-with-a-germline-ataxia-telangiectasia-mutated-gene-future-treatment-decisions
#3
Maryam Dosani, Kasmintan A Schrader, Alan Nichol, Sophie Sun, Tamara Shenkier, Zoe Lohn, Gudrun Aubertin, Scott Tyldesley
Ataxia telangiectasia mutated (ATM) gene mutations may confer increased sensitivity to ionizing radiation and increased risk of late toxicity for cancer patients. We present the case of a 55-year-old female treated with adjuvant breast and regional nodal radiation following lumpectomy and axillary lymph node dissection for stage II invasive ductal carcinoma of the breast. She developed severe telangiectasia, fibrosis, induration, chest wall pain (with evidence of rib fractures on imaging), and painful limitation in her range of motion at the shoulder...
July 11, 2017: Curēus
https://www.readbyqxmd.com/read/28902707/impact-of-human-ca8-on-thermal-antinociception-in-relation-to-morphine-equivalence-in-mice
#4
Eugene S Fu, Diana M Erasso, Gerald Z Zhuang, Udita Upadhyay, Mehtap Ozdemir, Timothy Wiltshire, Konstantinos D Sarantopoulos, Shad B Smith, William Maixner, Eden R Martin, Roy C Levitt
Recently, we showed that murine dorsal root ganglion (DRG) Car8 expression is a cis-regulated eQTL that determines analgesic responses. In this report, we show that transduction through sciatic nerve injection of DRG with human wild-type carbonic anhydrase-8 using adeno-associated virus viral particles (AAV8-V5-CA8WT) produces analgesia in naive male C57BL/6J mice and antihyperalgesia after carrageenan treatment. A peak mean increase of about 4 s in thermal hindpaw withdrawal latency equaled increases in thermal withdrawal latency produced by 10 mg/kg intraperitoneal morphine in these mice...
September 11, 2017: Neuroreport
https://www.readbyqxmd.com/read/28902127/altered-gene-expression-of-rnf34-and-pacap-possibly-involved-in-mechanism-of-exercise-induced-analgesia-for-neuropathic-pain-in-rats
#5
Shintaro Yamaoka, Yusuke Oshima, Hideki Horiuchi, Tadao Morino, Masayuki Hino, Hiromasa Miura, Tadanori Ogata
Despite the availability of several modalities of treatment, including surgery, pharmacological agents, and nerve blocks, neuropathic pain is often unresponsive and sometimes progresses to intractable chronic pain. Although exercise therapy is a candidate for treatment of neuropathic pain, the mechanism underlying its efficacy has not been elucidated. To clarify the molecular mechanism for pain relief induced by exercise, we measured Rnf34 and Pacap mRNA levels in the spinal cord dorsal horn of SNL rats, a model of neuropathic pain...
September 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#6
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28886490/interleukin-6-in-irritable-bowel-syndrome-a-systematic-review-and-meta-analysis-of-il-6-g174c-and-circulating-il-6-levels
#7
REVIEW
Mohammad Bashashati, Maryam Moradi, Irene Sarosiek
BACKGROUND: Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder which presents with abdominal pain and alterations of the bowel habits. The pathophysiology of IBS is not well-recognized. Low grade inflammation has been suggested as one of the underlying mechanisms of IBS. Variations in the circulating pro-inflammatory interleukin-6 (IL-6) levels and IL-6 gene polymorphisms have been demonstrated in IBS. However, the results of published studies are not consistent, probably due to their small sample sizes...
September 5, 2017: Cytokine
https://www.readbyqxmd.com/read/28881160/effective-treatment-of-aggressive-fibromatosis-with-celecoxib-guided-by-genetic-testing
#8
Shanshan Yang, Xufu Wang, Haiping Jiang, Yongjie Wang, Zhuokun Li, Haijun Lu
Aggressive fibromatosis (AF) or desmoid tumors is an aggressive fibroblastic proliferation which is locally invasive but can not metastasize. The treatment of AF is challenging. Surgery was the main treatment modality for AF in the past, other strategies including radiotherapy, systemic therapies and wait-and-see policy. The use of non-steroidal anti-inflammatory drugs (NSAIDs) and targeted therapies has demonstrated good results. In the case report, a 39-year-old man presented with progressive chest wall pain...
September 7, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28874973/inhibiting-vascular-endothelial-growth-factor-in-injured-intervertebral-discs-attenuates-pain-related-neuropeptide-expression-in-dorsal-root-ganglia-in-rats
#9
Jun Sato, Kazuhide Inage, Masayuki Miyagi, Yoshihiro Sakuma, Kazuyo Yamauchi, Masao Koda, Takeo Furuya, Junichi Nakamura, Miyako Suzuki, Go Kubota, Yasuhiro Oikawa, Takeshi Sainoh, Kazuki Fujimoto, Yasuhiro Shiga, Koki Abe, Hirohito Kanamoto, Masahiro Inoue, Hideyuki Kinoshita, Masaki Norimoto, Tomotaka Umimura, Kazuhisa Takahashi, Seiji Ohtori, Sumihisa Orita
STUDY DESIGN: An experimental animal study. PURPOSE: To evaluate effects of anti-vascular endothelial growth factor (VEGF) on the content and distribution of the calcitonin gene-related peptide (CGRP) in the dorsal ganglia in a rat model. OVERVIEW OF LITERATURE: Increased expression of VEGF in degenerative disc disease increases the levels of inflammatory cytokines and nerve ingrowth into the damaged discs. In animal models, increased levels of VEGF can persist for up to 2 weeks after an injury...
August 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28874920/the-manual-stimulation-of-acupuncture-points-in-the-treatment-of-post-traumatic-stress-disorder-a-review-of-clinical-emotional-freedom-techniques
#10
Dawson Church, David Feinstein
Background: The manual stimulation of acupuncture points has been combined with components of cognitive and exposure therapies into a clinical and self-help approach known as Emotional Freedom Techniques (EFT). More than 40 clinical trials and four meta-analytic reviews of EFT treatments have demonstrated large effect sizes with a range of conditions, including pain, PTSD (in both civilian and military veteran populations), phobias, anxiety, and depression. Objective: This review describes the approach, with a focus on PTSD in veterans and service members, provides an overview of how EFT is most commonly applied, and outlines obstacles and cautions related to its implementation...
August 1, 2017: Medical Acupuncture
https://www.readbyqxmd.com/read/28868793/chronic-steroid-response-pancytopenia-and-increased-bone-density-due-to-thromboxane-synthase-deficiency
#11
Richa Sharma, Elizabeth Sierra Potchanant, Jennifer E Schwartz, Grzegorz Nalepa
Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein...
September 4, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28868300/aa-amyloidosis-and-atypical-familial-mediterranean-fever-with-exon-2-and-3-mutations
#12
Junko Yabuuchi, Noriko Hayami, Junichi Hoshino, Keiichi Sumida, Tatsuya Suwabe, Toshiharu Ueno, Akinari Sekine, Masahiro Kawada, Masayuki Yamanouchi, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kiyoshi Migita, Takao Masaki, Yoshifumi Ubara
A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/R202Q) and exon 3 (P369S/R408Q), although he had none of the exon 10 mutations known to be closely related to AA amyloidosis...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28854965/adipose-stem-cells-from-chronic-pancreatitis-patients-improve-mouse-and-human-islet-survival-and-function
#13
Lili Song, Zhen Sun, Do-Sung Kim, Wenyu Gou, Charlie Strange, Huansheng Dong, Wanxing Cui, Gary Gilkeson, Katherine A Morgan, David B Adams, Hongjun Wang
BACKGROUND: Chronic pancreatitis has surgical options including total pancreatectomy to control pain. To avoid surgical diabetes, the explanted pancreas can have islets harvested and transplanted. Immediately following total pancreatectomy with islet autotransplantation (TP-IAT), many islet cells die due to isolation and transplantation stresses. The percentage of patients remaining insulin free after TP-IAT is therefore low. We determined whether cotransplantation of adipose-derived mesenchymal stem cells (ASCs) from chronic pancreatitis patients (CP-ASCs) would protect islets after transplantation...
August 30, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28837387/crmp2-is-necessary-for-neurofibromatosis-type-1-related-pain
#14
Aubin Moutal, Song Cai, Shizhen Luo, Raphaëlle Voisin, Rajesh Khanna
Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases, affecting roughly 1 in 3000 individuals. As a multisystem disorder, it affects cognitive development, as well as bone, nerve and muscle constitution. Peripheral neuropathy in NF1 constitutes a potentially severe clinical complication and is associated with increased morbidity and mortality. The discovery of effective therapies for Neurofibromatosis type 1 (NF1) pain depends on mechanistic understanding that has been limited, in part, by the relative lack of availability of animal models relevant to NF1 pain...
August 24, 2017: Channels
https://www.readbyqxmd.com/read/28822691/fatal-meningitis-in-swine-after-intrathecal-administration-of-adeno-associated-virus-expressing-syngeneic-interleukin-10
#15
Mark D Unger, Josef Pleticha, James E Collins, Anibal G Armien, Jennifer L Brazzell, Laura K Newman, Lukas F Heilmann, Jodi A Scholz, Timothy P Maus, Andreas S Beutler
Interleukin-10 (IL-10) delivered by intrathecal (i.t.) gene vectors is a candidate investigational new drug (IND) for several chronic neurological disorders such as neuropathic pain. We performed a preclinical safety study of IL-10. A syngeneic large animal model was used delivering porcine IL-10 (pIL-10) to the i.t. space in swine by adeno-associated virus serotype 8 (AAV8), a gene vector that was previously found to be nontoxic in the i.t. space. Unexpectedly, animals became ill, developing ataxia, seizures, and an inability to feed and drink, and required euthanasia...
August 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28795275/effects-of-photobiomodulation-therapy-and-topical-non-steroidal-anti-inflammatory-drug-on-skeletal-muscle-injury-induced-by-contusion-in-rats-part-2-biochemical-aspects
#16
Shaiane Silva Tomazoni, Lúcio Frigo, Tereza Cristina Dos Reis Ferreira, Heliodora Leão Casalechi, Simone Teixeira, Patrícia de Almeida, Marcelo Nicolas Muscara, Rodrigo Labat Marcos, Andrey Jorge Serra, Paulo de Tarso Camillo de Carvalho, Ernesto Cesar Pinto Leal-Junior
Muscle injuries trigger an inflammatory process, releasing important biochemical markers for tissue regeneration. The use of non-steroidal anti-inflammatory drugs (NSAIDs) is the treatment of choice to promote pain relief due to muscle injury. NSAIDs exhibit several adverse effects and their efficacy is questionable. Photobiomodulation therapy (PBMT) has been demonstrated to effectively modulate inflammation induced from musculoskeletal disorders and may be used as an alternative to NSAIDs. Here, we assessed and compared the effects of different doses of PBMT and topical NSAIDs on biochemical parameters during an acute inflammatory process triggered by a controlled model of contusion-induced musculoskeletal injury in rats...
August 9, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28777494/clinico-radiological-features-and-next-generation-sequencing-of-pulmonary-epithelioid-hemangioendothelioma-a-case-report-and-review-of-literature
#17
Xiaoyong Mao, Zibin Liang, Fidelis Chibhabha, Wei Ou, Ning Li, Pengfei Xu, Siyu Wang
Epithelioid hemangioendothelioma is a very rare, vascular, low-grade malignant tumor found in the lungs, liver, bone, and other soft tissues. Most patients with pulmonary epithelioid hemangioendothelioma (PEH) are asymptomatic but usually present with multiple bilateral nodular lesions in the lungs. Currently, surgical lung biopsy, histology, and immunohistochemical methods are essential for diagnosis. However, there is no standard therapy for the treatment for PEH. Our paper describes the clinico-radiologic features and genomics of PEH based on next-generation sequencing (NGS) in a 43-year-old male we encountered...
August 4, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28771594/patients-experiencing-statin-induced-myalgia-exhibit-a-unique-program-of-skeletal-muscle-gene-expression-following-statin-re-challenge
#18
Marshall B Elam, Gipsy Majumdar, Khyobeni Mozhui, Ivan C Gerling, Santiago R Vera, Hannah Fish-Trotter, Robert W Williams, Richard D Childress, Rajendra Raghow
Statins, the 3-hydroxy-3-methyl-glutaryl (HMG)-CoA reductase inhibitors, are widely prescribed for treatment of hypercholesterolemia. Although statins are generally well tolerated, up to ten percent of statin-treated patients experience myalgia symptoms, defined as muscle pain without elevated creatinine phosphokinase (CPK) levels. Myalgia is the most frequent reason for discontinuation of statin therapy. The mechanisms underlying statin myalgia are not clearly understood. To elucidate changes in gene expression associated with statin myalgia, we compared profiles of gene expression in skeletal muscle biopsies from patients with statin myalgia who were undergoing statin re-challenge (cases) versus those of statin-tolerant controls...
2017: PloS One
https://www.readbyqxmd.com/read/28761738/results-of-the-safety-run-in-part-of-the-metal-metformin-in-advanced-lung-cancer-study-a-multicentre-open-label-phase-i-ii-study-of-metformin-with-erlotinib-in-second-line-therapy-of-patients-with-stage-iv-non-small-cell-lung-cancer
#19
Floriana Morgillo, Morena Fasano, Carminia Maria Della Corte, Ferdinando Carlo Sasso, Federica Papaccio, Giuseppe Viscardi, Giovanna Esposito, Raimondo Di Liello, Nicola Normanno, Annalisa Capuano, Liberato Berrino, Giovanni Vicidomini, Alfonso Fiorelli, Mario Santini, Fortunato Ciardiello
PURPOSE: Our previous works demonstrated the ability of metformin to revert resistance to gefitinib, a selective epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor, in non-small-cell lung cancer (NSCLC) EGFR/LKB1 wild-type (WT) cell lines. However, the optimal dose of metformin to be used in non-diabetic patients still remains to be defined. The phase I-II trial METformin in Advanced Lung cancer (METAL) was designed to identify the maximum tolerated dose and to evaluate safety and activity of metformin combined with erlotinib in second-line treatment of patients with stage IV NSCLC, whose tumours harbour the WT EGFR gene...
2017: ESMO Open
https://www.readbyqxmd.com/read/28728857/-rosacea-new-data-for-better-care
#20
B Cribier
In the last 10 years, numerous studies have been published that throw new light on rosacea, in all areas of the disease. This overview summarises all the key developments, based on the indexed bibliography appearing in Medline between 2007 and 2017. Recent epidemiological data show that the prevalence of the disease is doubtless greater than estimated hitherto (more than 10% of adults in some countries) and that we should not overlook rosacea in subjects with skin phototypes V or VI, a condition that exists on all continents...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
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