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reiter syndrome

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https://www.readbyqxmd.com/read/30116608/ventilation-control-for-airborne-transmission-of-human-exhaled-bio-aerosols-in-buildings
#1
REVIEW
Hua Qian, Xiaohong Zheng
The emergence of respiratory diseases, i.e., severe acute respiratory syndrome (SARS) epidemic in 2003, H1N1 influenza epidemic in 2011 and Middle East respiratory syndrome (MERS) outbreak, reiterated the significance of ventilation in buildings. The role of ventilation in removing exhaled airborne bio-aerosols and preventing cross infections has been multidisciplinary extensively studied after the SARS outbreak in 2003. The characteristics of droplet-borne, short-range airborne and long-range airborne transmission of infectious diseases were identified...
July 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/30089727/cardiovascular-consequences-of-katp-overactivity-in-cantu-syndrome
#2
Yan Huang, Conor McClenaghan, Theresa M Harter, Kristina Hinman, Carmen M Halabi, Scot J Matkovich, Haixia Zhang, G Schuyler Brown, Robert P Mecham, Sarah K England, Attila Kovacs, Maria S Remedi, Colin G Nichols
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits. However, there is little understanding of the link between molecular dysfunction and the complex pathophysiology observed, and there is no known treatment, in large part due to the lack of appropriate preclinical disease models in which to test therapies...
August 9, 2018: JCI Insight
https://www.readbyqxmd.com/read/30013592/screening-of-the-lamb2-wt1-nphs1-and-nphs2-genes-in-pediatric-nephrotic-syndrome
#3
Aiysha Abid, Saba Shahid, Madiha Shakoor, Ali A Lanewala, Seema Hashmi, Shagufta Khaliq
Mutations in the NPHS1, NPHS2, LAMB2 , and the WT1 genes are responsible for causing nephrotic syndrome (NS) in two third of the early onset cases. This study was carried out to assess the frequencies of mutations in these genes in a cohort of pediatric NS patients. A total of 64 pediatric familial or sporadic SRNS cases were recruited. Among these, 74% had a disease onset of up to 3 years of age. We found one homozygous frameshift mutation in the NPHS1 gene in one CNS case and two homozygous mutations in the NPHS2 gene...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29997716/a-qualitative-study-of-barriers-to-genetic-counseling-and-potential-for-mobile-technology-education-among-women-with-ovarian-cancer
#4
Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee, Melissa A Geller
Background: National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and prevention options exist for at-risk family members. Despite these recommendations, uptake of genetic counselling and testing is low. The goal of this study was to identify barriers to and motivators for receipt of genetic counseling along with preferences regarding potential use of a mobile application to promote genetic counseling...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29947857/-submucous-cleft-palate-and-a-congenitally-short-velum-effects-of-surgical-intervention
#5
S Brosch, L Nunner, S Haase, G Schlömer, R Reiter, W Angerstein, T K Hoffmann
BACKGROUND: A submucous cleft palate and a congenitally short velum are diagnosed rather late, because symptoms are often mild. OBJECTIVES: The pre- and postoperative clinical symptoms for both conditions are presented. MATERIALS AND METHODS: The data of 180 patients with a submucous cleft palate (161) or congenitally short velum (19) were retrospective analyzed. In 23.3%, a syndromic association was found. RESULTS: Clinical findings for both conditions included middle ear problems, hypernasal speech, nasal penetration, the absence of the posterior nasal spine of the hard palate and/or a bifid uvula with a zona pellucida...
August 2018: HNO
https://www.readbyqxmd.com/read/29928922/mast-cell-activation-syndrome-importance-of-consensus-criteria-and-call-for-research
#6
Peter Valent, Cem Akin, Patrizia Bonadonna, Karin Hartmann, Sigurd Broesby-Olsen, Knut Brockow, Joseph H Butterfield, Andreas Reiter, Jason Gotlib, Mariana Castells, Joshua D Milner, Melody C Carter, Hirsh Komarow, Deepti Radia, Animesh Pardanani, Karl Sotlar, Massimo Triggiani, Hans-Peter Horny, Michel Arock, Lawrence B Schwartz, Dean D Metcalfe
No abstract text is available yet for this article.
September 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29920362/whole-exome-sequencing-identifies-a-novel-5-mb-deletion-at-14q12-region-in-a-patient-with-global-developmental-delay-microcephaly-and-seizures
#7
Venugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, Aneek Das Bhowmik, Ashwin Dalal
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18 months followed by sudden growth arrest, psychomotor retardation and a broad spectrum of clinical features. Sequence variants in MECP2 gene have been identified as the major genetic etiology accounting for 90-95% of patients. Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical Rett syndrome...
October 5, 2018: Gene
https://www.readbyqxmd.com/read/29907916/the-effects-of-melatonin-supplementation-on-inflammatory-markers-among-patients-with-metabolic-syndrome-or-related-disorders-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#8
REVIEW
Maryam Akbari, Vahidreza Ostadmohammadi, Reza Tabrizi, Kamran B Lankarani, Seyed Taghi Heydari, Elaheh Amirani, Russel J Reiter, Zatollah Asemi
OBJECTIVE: This systematic review and meta-analysis of randomized controlled trials (RCTs) was carried out to determine the effect of melatonin supplementation on the inflammatory markers among individuals with metabolic syndrome (MetS) and related disorders. METHODS: We searched the following databases up to March 2018: PubMed, MEDLINE, EMBASE, Web of Science, and Cochrane Central Register of Controlled Trials. Three reviewers independently assessed study eligibility, extracted data, and evaluated risk of bias of included primary studies...
August 2018: Inflammopharmacology
https://www.readbyqxmd.com/read/29875532/sensory-gating-deficits-and-their-clinical-correlates-in-drug-free-drug-naive-patients-with-schizophrenia
#9
Ravichandra Karkal, Nishant Goyal, Sai Krishna Tikka, Roshan V Khanande, Anil Kakunje, Christoday R J Khess
Background: Sensory gating refers to "filtering" of irrelevant sensory input in the brain. Auditory sensory gating deficit has been considered as a marker of schizophrenia (SCZ) and assessed using P50 paired-click paradigm. We explore sensory gating deficits and their clinical correlates in SCZ. Materials and Methods: Twenty-five drug-free/drug-naïve patients with SCZ, whose psychopathology was assessed using Positive and Negative Syndrome Scale (PANSS), and 25 age-matched normal controls (NC) were recruited...
May 2018: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29777306/respiratory-manifestations-in-lps-responsive-beige-like-anchor-lrba-protein-deficient-patients
#10
Oded Shamriz, Bella Shadur, Adeeb NaserEddin, Irina Zaidman, Natalia Simanovsky, Orly Elpeleg, Eitan Kerem, Joel Reiter, Polina Stepensky
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. In this study, we sought to summarize our experience with respiratory manifestations in LRBA-deficient patients. We conducted a retrospective analysis of the medical records of LRBA-deficient patients treated at Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Data retrieved included pulmonary workup, disease course, treatment, and outcome. Ten patients were included...
August 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29774427/largely-flat-latitudinal-life-history-clines-in-the-dung-fly-sepsis-fulgens-across-europe-diptera-sepsidae
#11
Jeannine Roy, Wolf U Blanckenhorn, Patrick T Rohner
Clinal variation in body size and related life history traits is common and has stimulated the postulation of several eco-geographical rules. Whereas some clinal patterns are clearly adaptive, the causes of others remain obscure. We investigated intra-specific body size, development time and female fecundity (egg size and number) clines across 13 European populations of the dung fly Sepsis fulgens spanning 20° latitude from southern Italy to Estonia in a genetic common garden approach. Despite very short generation times (ca...
July 2018: Oecologia
https://www.readbyqxmd.com/read/29746944/increased-risk-of-autoimmune-diseases-in-dengue-patients-a-population-based-cohort-study
#12
Hao-Ming Li, Ying-Kai Huang, Yuan-Chih Su, Chia-Hung Kao
OBJECTIVE: To investigate the risk of autoimmune diseases in dengue patients. METHODS: We conducted a population-based cohort study by the Taiwan National Health Insurance Research Database, including a total of 12,506 newly diagnosed dengue patients and 112,554 control subjects between 2000 and 2010, matched by gender, age, income, urbanization, and comorbidities. Both cohorts were followed for a 3-year period to examine the incidence of autoimmune diseases. A Cox proportional hazards regression analysis was applied to calculate the risk of autoimmune diseases between both groups...
September 2018: Journal of Infection
https://www.readbyqxmd.com/read/29537380/resolution-of-consumptive-hypothyroidism-secondary-to-infantile-hepatic-hemangiomatosis-with-a-combination-of-propranolol-and-levothyroxine
#13
Victoria Campbell, Rachel Beckett, Noina Abid, Susannah Hoey
Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of long-term sequelae. We report an interesting case of a female infant who presented with systemic compromise, in the absence of large or obvious cutaneous infantile hemangiomas. Imaging identified innumerable hepatic hemangiomas, consistent with diffuse infantile hepatic hemangiomatosis...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29463454/diagnostic-potential-of-dentatorubrothalamic-tract-analysis-in-progressive-supranuclear-palsy
#14
Morinobu Seki, Klaus Seppi, Christoph Mueller, Thomas Potrusil, Georg Goebel, Eva Reiter, Michael Nocker, Ruth Steiger, Matthias Wildauer, Elke R Gizewski, Gregor K Wenning, Werner Poewe, Christoph Scherfler
BACKGROUND: The differentiation of progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) remains a major clinical challenge. OBJECTIVES: To evaluate the diagnostic potential of observer-independent assessments of microstructural integrity within infratentorial brain regions to differentiate PSP-Richardson's syndrome (PSP-RS), PSP-P and PD. METHODS: 3T MRI parameters of mean diffusivity, fractional anisotropy, grey and white matter volumes from patients with PSP-RS (n = 12), PSP-P (n = 12) and mean disease duration of 2...
April 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29455267/reactive-arthritis-update-2018
#15
REVIEW
A García-Kutzbach, J Chacón-Súchite, H García-Ferrer, I Iraheta
At this time, reactive arthritis (ReA) is considered to be part of the spectrum of the spondyloarthritis, previously known as Reiter's syndrome, and refers to an infection induced systemic illness, characterized by a sterile synovitis occurring in a genetically predisposed individual, secondary to an infection localized in a distant organ/system, but also accompanied with multiple extra articular manifestations.
April 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#16
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29423132/significant-transcriptional-changes-in-15q-duplication-but-not-angelman-syndrome-deletion-stem-cell-derived-neurons
#17
Nora Urraca, Kevin Hope, A Kaitlyn Victor, T Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges, Lawrence T Reiter
Background: The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method: Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29346496/melanopsin-system-dysfunction-in-smith-magenis-syndrome-patients
#18
Mirella Telles Salgueiro Barboni, Clarissa Bueno, Balázs Vince Nagy, Patrícia Lobo Maia, Kallene Summer Moreira Vidal, Rosana Cardoso Alves, Russel J Reiter, Fernanda Gaspar do Amaral, José Cipolla-Neto, Dora Fix Ventura
Purpose: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. Methods: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4)...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29300972/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#19
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Fauni Harper, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10: g.42290219C > T, NM_014233.3: c.628G > A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2...
February 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29240780/filamina-and-formin2-regulate-skeletal-muscular-and-intestinal-formation-through-mesenchymal-progenitor-proliferation
#20
Gewei Lian, Sneha Kanaujia, Timothy Wong, Volney Sheen
The effects of actin dependent molecular mechanisms in coordinating cellular proliferation, migration and differentiation during embryogenesis are not well-understood. We have previously shown that actin-binding Filamin A (FlnA) and actin-nucleating Formin 2 (Fmn2) influence the development of the brain causing microcephaly in mice. In this study, we broaden this phenotype to explore the effects of these two proteins in the development of extra-CNS organ systems, including the gut, muscle, and skeleton. We observed defects in rib and sternum midline closure leading to thoracoabdominal schisis in FlnA+Fmn2 knockout mice, reminiscent of the pentalogy of Cantrell syndrome...
2017: PloS One
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