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Lowe Syndrome

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https://www.readbyqxmd.com/read/28340492/hemolysis-elevated-liver-enzymes-low-platelets-syndrome-superimposed-on-hemolytic-uremic-syndrome
#1
Inês Martins, Madalena Gomes Conceição, Paulo Pereira Gomes, Nuno Clode
A pregnancy complicated by typical hemolytic uremic syndrome (HUS) and hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome is reported. At 20 weeks of gestation, a case of HUS was diagnosed, with Shiga toxin-producing Escherichia coli identified. Plasmapheresis allowed continuation of the pregnancy for 5 weeks. Superimposed preeclampsia and HELLP syndrome were diagnosed after the establishment of nephrotic range proteinuria, hypertension and recurrence of hemolysis. This is a singular case, as it demonstrates that HELLP syndrome can superimpose upon HUS, a fact that can impact future research on reproductive immunology...
March 24, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28339438/the-role-of-autonomic-function-in-exercise-induced-endogenous-analgesia-a-case-control-study-in-myalgic-encephalomyelitis-chronic-fatigue-syndrome-and-healthy-people
#2
Jessica Van Oosterwijck, Uros Marusic, Inge De Wandele, Lorna Paul, Mira Meeus, Greta Moorkens, Luc Lambrecht, Lieven Danneels, Jo Nijs
BACKGROUND: Patients with myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) are unable to activate brain-orchestrated endogenous analgesia (or descending inhibition) in response to exercise. This physiological impairment is currently regarded as one factor explaining post-exertional malaise in these patients. Autonomic dysfunction is also a feature of ME/CFS. OBJECTIVES: This study aims to examine the role of the autonomic nervous system in exercise-induced analgesia in healthy people and those with ME/CFS, by studying the recovery of autonomic parameters following aerobic exercise and the relation to changes in self-reported pain intensity...
March 2017: Pain Physician
https://www.readbyqxmd.com/read/28335507/hydroxytyrosol-in-the-prevention-of-the-metabolic-syndrome-and-related-disorders
#3
REVIEW
Julien Peyrol, Catherine Riva, Marie Josèphe Amiot
Virgin olive oil (VOO) constitutes the main source of fat in the Mediterranean diet. VOO is rich in oleic acid, displaying health-promoting properties, but also contains minor bioactive components, especially phenolic compounds. Hydroxytyrosol (HT), the main polyphenol of olive oil, has been reported to be the most bioactive component. This review aims to compile the results of clinical, animal and cell culture studies evaluating the effects of HT on the features of Metabolic Syndrome (MetS) (body weight/adiposity, dyslipidemia, hypertension, and hyperglycemia/insulin resistance) and associated complications (oxidative stress and inflammation)...
March 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28334791/isolated-acth-deficiency-probably-induced-by-autoimmune-related-mechanism-evoked-with-nivolumab
#4
Keiko Kitajima, Kenji Ashida, Naoko Wada, Ryoko Suetsugu, Yukina Takeichi, Shohei Sakamoto, Hiroshi Uchi, Takamitsu Matsushima, Motoaki Shiratsuchi, Keizo Ohnaka, Masutaka Furue, Masatoshi Nomura
Nivolumab, an anti-programmed death-1 antibody, is a breakthrough treatment for several malignancies. Its specific adverse effects caused by autoimmunity are termed immune-related adverse events, which involve several endocrine dysfunctions. Herein, we report two cases of isolated adrenocorticotropic hormone (ACTH) deficiency induced by nivolumab for the treatment of metastatic malignant melanoma. Case 1 was a 39-year-old man and Case 2 was a 50-year-old woman, both of whom presented with progressive melanoma...
February 18, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334433/dietary-interventions-for-recurrent-abdominal-pain-in-childhood
#5
REVIEW
Tamsin V Newlove-Delgado, Alice E Martin, Rebecca A Abbott, Alison Bethel, Joanna Thompson-Coon, Rebecca Whear, Stuart Logan
BACKGROUND: This is an update of the original Cochrane review, last published in 2009 (Huertas-Ceballos 2009). Recurrent abdominal pain (RAP), including children with irritable bowel syndrome, is a common problem affecting between 4% and 25% of school-aged children. For the majority of such children, no organic cause for their pain can be found on physical examination or investigation. Many dietary inventions have been suggested to improve the symptoms of RAP. These may involve either excluding ingredients from the diet or adding supplements such as fibre or probiotics...
March 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28334177/genetic-and-environmental-integration-of-the-hawkmoth-pollination-syndrome-in-ruellia-humilis-acanthaceae
#6
John S Heywood, Joseph S Michalski, Braden K McCann, Amber D Russo, Kara J Andres, Allison R Hall, Tessa C Middleton
Background and Aims: The serial homology of floral structures has made it difficult to assess the relative contributions of selection and constraint to floral integration. The interpretation of floral integration may also be clouded by the tacit, but largely untested, assumption that genetic and environmental perturbations affect trait correlations in similar ways. In this study, estimates of both the genetic and environmental correlations between components of the hawkmoth pollination syndrome are presented for chasmogamous flowers of Ruellia humilis , including two levels of control for serial homology...
February 28, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28333691/asthma-prevalence-and-severity-in-low-resource-communities
#7
Álvaro A Cruz, Rafael Stelmach, Eduardo V Ponte
PURPOSE OF REVIEW: The prevalence of asthma was thought to be low in most low-income countries, but several reports have indicated this is not always true. This is a narrative review of recent publications on the burden of asthma in low and middle-income countries (LMIC) and underprivileged communities from developed countries. RECENT FINDINGS: Several studies have reported a low prevalence of asthma is LMIC, but indicate it is increasing. In the last few years, however, many surveys demonstrated this may not always be true...
March 22, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28333660/low-dose-naltrexone-a-new-therapy-option-for-complex-regional-pain-syndrome-type-i-patients
#8
Kayla M Sturn, Michael Collin
Naltrexone (an opioid antagonist) has long been used in patients overcoming alcohol and opioid dependency. However, at doses one-tenth of those commonly prescribed for the above conditions, an unexpected effect occurs that aids in alleviating pain. Although there are currently no randomized clinical trials supporting the use of low-dose naltrexone, we present a case study describing the impact of compounding low-dose naltrexone that has dramatically improved the patient's pain symptoms which were refractory to other treatments...
May 2016: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28333365/clozapine-combined-with-different-antipsychotic-drugs-for-treatment-resistant-schizophrenia
#9
REVIEW
Sarah Barber, Uwaila Olotu, Martina Corsi, Andrea Cipriani
BACKGROUND: Between 40% and 70% of people with treatment-resistant schizophrenia do not respond to clozapine, despite adequate blood levels. For these people, a number of treatment strategies have emerged, including the prescription of a second anti-psychotic drug in combination with clozapine. OBJECTIVES: To determine the clinical effects of various clozapine combination strategies with antipsychotic drugs in people with treatment-resistant schizophrenia both in terms of efficacy and tolerability...
March 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#10
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331357/effectiveness-of-ultrasound-therapy-for-myofascial-pain-syndrome-a-systematic-review-and-meta-analysis
#11
REVIEW
Peng Xia, Xiaoju Wang, Qiang Lin, Kai Cheng, Xueping Li
OBJECTIVE: The objective of this review was to assess the therapeutic effect of ultrasound (US) on myofascial pain syndrome (MPS). DATE SOURCES: PubMed, Embase, and Cochrane Library were searched to find relevant studies from January 1966 to May 2016 using keywords. Four investigators performed the data extraction. STUDY SELECTION: Randomized controlled trials (RCTs) investigating the outcomes of pain and physical function between MPS patients receiving and not receiving US were selected by two researchers independently...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28331226/the-histone-deacetylase-inhibitor-givinostat-itf2357-exhibits-potent-anti-tumor-activity-against-crlf2-rearranged-bcp-all
#12
A M Savino, J Sarno, L Trentin, M Vieri, G Fazio, M Bardini, C Bugarin, G Fossati, K Davis, G Gaipa, S Izraeli, L H Meyer, G P Nolan, A Biondi, G Te Kronnie, C Palmi, G Cazzaniga
Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis. The HDAC inhibitor givinostat/ITF2357 has been shown to exert antineoplastic activity against both systemic juvenile idiopathic arthritis and myeloproliferative neoplasms through inhibition of the JAK/STAT pathway. These findings led us to hypothesize that givinostat might also act against CRLF2-rearranged BCP-ALL, which lack effective therapies. Here, we found that givinostat inhibited proliferation and induced apoptosis of BCP-ALL CRLF2-rearranged cell lines, positive for exon 16 JAK2 mutations...
March 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28330435/idiopathic-carotidynia
#13
Aleksandra Policha, David Williams, Mark Adelman, Frank Veith, Neal S Cayne
Idiopathic carotidynia is a syndrome characterized by pain and tenderness over the carotid artery without an associated structural luminal abnormality. Controversy exists over whether this is a distinct disease entity or merely a symptom attributable to other causes of neck pain, such as carotid dissection or vasculitis. A 50-year-old woman presented with sudden-onset right neck pain. Imaging studies demonstrated transmural inflammation of the proximal internal carotid artery, without evidence of intraluminal pathology...
April 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28330075/a-novel-multiplex-pcr-method-for-the-detection-of-virulence-associated-genes-of-escherichia-coli-o157-h7-in-food
#14
Vo Van Giau, Thuy Trang Nguyen, Thi Kim Oanh Nguyen, Thi Thuy Hang Le, Tien Dung Nguyen
Shiga toxin-producing Escherichia coli O157:H7 (E. coli O157:H7) strains are foodborne infectious agents that cause a number of life-threatening diseases, including hemorrhagic colitis (HC) and hemolytic uremic syndrome (HUS). Shiga toxin 1 (stx1), shiga toxin 2 (stx2), or a combination of both are responsible for most clinical symptoms of these diseases. Hence, various diagnostic methods have been developed so far to detect shiga toxins such as cell culture, ELISA, Rapid Latex Agglutination (RPLA) and hybridization, but due to high costs and labor time in addition to low sensitivity, they have not received much attention...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28329953/imaging-feature-in-pres-syndrome-report-of-6-cases
#15
H El Mhabrech, S Karma, F Jbeli, M Dakkem, A Kraiem, C Hafsa
OBJECTIVES: Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome. The pathophysiology is poorly understood. Computed tomography (CT) and magnetic resonance imaging (MRI) findings are characteristic of the diagnosis and diffusion weighted image has been also suggested having a prognostic value. We report this unusual neurologic complication of peripartumin except any pre-existent pathology of the pregnancy. MATERIEL AND METHODS: CT, MR findings and relevant clinical data of the patients were retrospectively reviewed on 5 cases between 2011 and 2012 in our radiologic department...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28329382/systemic-immunomodulating-therapies-for-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-a-systematic-review-and-meta-analysis
#16
Stefanie Zimmermann, Peggy Sekula, Moritz Venhoff, Edith Motschall, Jochen Knaus, Martin Schumacher, Maja Mockenhaupt
Importance: Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are rare but severe adverse reactions with high mortality. There is no evidence-based treatment, but various systemic immunomodulating therapies are used. Objectives: To provide an overview on possible immunomodulating treatments for SJS/TEN and estimate their effects on mortality compared with supportive care. Data Sources: A literature search was performed in December 2012 for articles published in MEDLINE, MEDLINE Daily, MEDLINE Inprocess, Web of Science, EMBASE, Scopus, and the Cochrane Library (Central) from January 1990 through December 2012, and updated in December 2015, in the English, French, Spanish, and German languages looking for treatment proposals for SJS/TEN...
March 22, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28329330/three-port-one-incision-plus-two-port-endoscopic-mitral-valve-surgery-without-robotic-assistance%C3%A2
#17
Toshiaki Ito, Atsuo Maekawa, Satoshi Hoshino, Yasunari Hayashi, Sadanari Sawaki, Junji Yanagisawa, Masayoshi Tokoro
OBJECTIVES: Totally endoscopic minimally invasive mitral valve surgery (MIMVS) is technically demanding and often performed with robotic assistance. We hypothesized that three-port video-assisted thoracic surgery (VATS) would facilitate endoscopic MIMVS and evaluated its feasibility and safety. METHODS: From October 2010 to June 2016, we performed first-time MIMVS in 250 consecutive patients (122 male), with median age of 65 years (54-73 years, 25-75 percentile)...
March 17, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28328824/early-use-of-noninvasive-techniques-for-clearing-respiratory-secretions-during-noninvasive-positive-pressure-ventilation-in-patients-with-acute-exacerbation-of-chronic-obstructive-pulmonary-disease-and-hypercapnic-encephalopathy-a-prospective-cohort-study
#18
Jinrong Wang, Zhaobo Cui, Shuhong Liu, Xiuling Gao, Pan Gao, Yi Shi, Shufen Guo, Peipei Li
Noninvasive positive-pressure ventilation (NPPV) might be superior to conventional mechanical ventilation (CMV) in patients with acute exacerbations of chronic obstructive pulmonary disease (AECOPDs). Inefficient clearance of respiratory secretions provokes NPPV failure in patients with hypercapnic encephalopathy (HE). This study compared CMV and NPPV combined with a noninvasive strategy for clearing secretions in HE and AECOPD patients.The present study is a prospective cohort study of AECOPD and HE patients enrolled between October 2013 and August 2015 in a critical care unit of a major university teaching hospital in China...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328700/lumbar-tactile-acuity-in-patients-with-low-back-pain-and-healthy-controls-systematic-review-and-meta-analysis
#19
Wacław Adamczyk, Kerstin Luedtke, Edward Saulicz
OBJECTIVE: Diminished tactile acuity in chronic non-neuropathic pain syndromes has been attributed to central pain processing and cortical reorganization. The latter was recently targeted in clinical trials that demonstrated no clear advantages over traditional approaches for the reduction of nonspecific low back pain (LBP). The aim of this systematic review and meta-analysis was to summarize the current evidence on tactile acuity in LBP and pain-free controls. METHODS: Six databases were independently searched by 2 researchers...
March 21, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28328690/the-first-use-of-pralidoxime-in-a-child-with-rivastigmine-poisoning
#20
Eylem Ulaş Saz, Ali Yurtseven, Mehmet Arda Kilinç, Yusuf Sari, Hasan Ağin
The aim of this report is to describe the successful use of pralidoxime in a pediatric patient who accidentally ingested 12 mg of rivastigmine and presented to the emergency department with weakness, drowsiness, hyporeactivity to environmental stimuli, and full cholinergic syndrome. CASE: The patient presented to the emergency department 2 hours after a suspected ingestion of rivastigmine. He was sleepy but oriented and cooperative, hypotonic, and hyporeflexic and has a Glasgow Coma Scale score of 13 (E3M6V4)...
March 21, 2017: Pediatric Emergency Care
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