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reiter's syndrome

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https://www.readbyqxmd.com/read/29777306/respiratory-manifestations-in-lps-responsive-beige-like-anchor-lrba-protein-deficient-patients
#1
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...
May 18, 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
#2
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...
May 17, 2018: Oecologia
https://www.readbyqxmd.com/read/29746944/increased-risk-of-autoimmune-diseases-in-dengue-patients-a-population-based-cohort-study
#3
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 12506 newly diagnosed dengue patients and 112554 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...
May 7, 2018: Journal of Infection
https://www.readbyqxmd.com/read/29537380/resolution-of-consumptive-hypothyroidism-secondary-to-infantile-hepatic-hemangiomatosis-with-combination-propranolol-and-levothyroxine
#4
V Campbell, R Beckett, N Abid, S 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 longterm 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 (IH). Imaging identified innumerable hepatic hemangiomas, consistent with diffuse infantile hepatic hemangiomatosis...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29463454/diagnostic-potential-of-dentatorubrothalamic-tract-analysis-in-progressive-supranuclear-palsy
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29202604/characterization-of-von-willebrand-factor-multimer-structure-in-patients-with-severe-aortic-stenosis
#12
Joerg Kellermair, Helmut W Ott, Michael Spannagl, Josef Tomasits, Juergen Kammler, Hermann Blessberger, Christian Reiter, Clemens Steinwender
Acquired von Willebrand syndrome (AVWS) associated with severe aortic stenosis (AS) has been frequently subclassified into a subtype 2A based on the deficiency of high-molecular-weight (HMW) multimers as it is seen in inherited von Willebrand disease (VWD) type 2A. However, the multimeric phenotype of VWD type 2A does not only include an HMW deficiency but also a decrease in intermediate-molecular-weight (IMW) multimers and an abnormal inner triplet band pattern. These additional characteristics have not been evaluated in AVWS associated with severe AS...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29193756/investigating-the-cardiac-pathology-of-sco2-mediated-hypertrophic-cardiomyopathy-using-patients-induced-pluripotent-stem-cell-derived-cardiomyocytes
#13
Tova Hallas, Binyamin Eisen, Yuval Shemer, Ronen Ben Jehuda, Lucy N Mekies, Shulamit Naor, Revital Schick, Sivan Eliyahu, Irina Reiter, Eugene Vlodavsky, Yeshayahu Shai Katz, Katrin Õunap, Avraham Lorber, Richard Rodenburg, Hanna Mandel, Mihaela Gherghiceanu, Ofer Binah
Mutations in SCO2 are among the most common causes of COX deficiency, resulting in reduced mitochondrial oxidative ATP production capacity, often leading to hypertrophic cardiomyopathy (HCM). To date, none of the recent pertaining reports provide deep understanding of the SCO2 disease pathophysiology. To investigate the cardiac pathology of the disease, we were the first to generate induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) from SCO2-mutated patients. For iPSC generation, we reprogrammed skin fibroblasts from two SCO2 patients and healthy controls...
February 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29190387/chronic-hyperandrogenemia-in-the-presence-and-absence-of-a-western-style-diet-impairs-ovarian-and-uterine-structure-function-in-young-adult-rhesus-monkeys
#14
Cecily V Bishop, Emily C Mishler, Diana L Takahashi, Taylor E Reiter, Kise R Bond, Cadence A True, Ov D Slayden, Richard L Stouffer
STUDY QUESTION: Does chronic hyperandrogenemia beginning at menarche, in the absence and presence of a western-style diet (WSD), alter ovarian and uterine structure-function in young adult rhesus monkeys? SUMMARY ANSWER: Phenotypic alterations in ovarian and uterine structure/function were induced by exogenous testosterone (T), and compounded in the presence of a WSD (T+WSD). WHAT IS KNOWN ALREADY: Hyperandrogenemia is a well-established component of PCOS and is observed in adolescent girls, indicating a potential pubertal onset of disease symptoms...
January 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29173272/case-bacillus-calmette-guerin-bcg-induced-reiter-syndrome-with-an-attempt-at-repeat-bcg-induction
#15
Douglas C Cheung, Alexandra L Millman, Robert J Hamilton
No abstract text is available yet for this article.
January 2018: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29148409/a-high-and-equal-prevalence-of-the-q703k-variant-in-nlrp3-patients-with-autoinflammatory-symptoms-and-ethnically-matched-controls
#16
Merav Lidar, Yael Brantz, Yael Shinar, Haike Reznik-Wolf, Avi Livneh, Ilan Ben Zvi, Rinat Cohen, Yaakov Berkun, Philip J Hashkes, Hagit Peleg, Aharon Kessel, Gleb Slobodin, Michael Rozenbaum, Ofra Goldzweig, Elon Pras
OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed...
November 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29046268/multisite-semiautomated-clinical-data-repository-for-duplication-15q-syndrome-study-protocol-and-early-uses
#17
Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat, Eunice Y Huang, Naga Satya V Rao Nagisetty, Nora Urraca, Laina Lusk, Brenda Finucane, Dimitrios Arkilo, Jennifer Young, Shafali Jeste, Ronald Thibert, Lawrence T Reiter
BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions...
October 18, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29044421/heterogeneous-hcg-and-hmg-commercial-preparations-result-in-different-intracellular-signalling-but-induce-a-similar-long-term-progesterone-response-in-vitro
#18
Laura Riccetti, Danièle Klett, Mohammed Akli Ayoub, Thomas Boulo, Elisa Pignatti, Simonetta Tagliavini, Manuela Varani, Tommaso Trenti, Alessia Nicoli, Francesco Capodanno, Giovanni Battista La Sala, Eric Reiter, Manuela Simoni, Livio Casarini
STUDY QUESTION: Are four urinary hCG/menotropin (hMG) and one recombinant preparation characterized by different molecular features and do they mediate specific intracellular signaling and steroidogenesis? SUMMARY ANSWER: hCG and hMG preparations have heterogeneous compositions and mediate preparation-specific cell signaling and early steroidogenesis, although similar progesterone plateau levels are achieved in 24 h-treated human primary granulosa cells in vitro...
October 1, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#19
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28945834/midostaurin-a-magic-bullet-that-blocks-mast-cell-expansion-and-activation
#20
P Valent, C Akin, K Hartmann, T I George, K Sotlar, B Peter, K V Gleixner, K Blatt, W R Sperr, P W Manley, O Hermine, H C Kluin-Nelemans, M Arock, H-P Horny, A Reiter, J Gotlib
Clinically relevant features in patients with systemic mastocytosis (SM) include the cosmetic burden of lesional skin, mediator-related symptoms, and organ damage resulting from mast cell (MC) infiltration in advanced forms of SM. Regardless of the SM variant, expansion of neoplastic MC in the skin and other organs is triggered by mutant forms of KIT, the most prevalent being D816V. Activation of MC with subsequent release of chemical mediators is often caused by IgE-dependent mechanisms in these patients. Midostaurin, also known as PKC412, blocks the kinase activity of wild-type KIT and KIT D816V, counteracts KIT-dependent growth of neoplastic MC, and inhibits IgE-dependent mediator secretion...
October 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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