keyword
MENU ▼
Read by QxMD icon Read
search

familial Mediterranean fever

keyword
https://www.readbyqxmd.com/read/28723550/induced-pluripotent-stem-cell-derived-primitive-macrophages-provide-a-platform-for-modeling-tissue-resident-macrophage-differentiation-and-function
#1
Kazuyuki Takata, Tatsuya Kozaki, Christopher Zhe Wei Lee, Morgane Sonia Thion, Masayuki Otsuka, Shawn Lim, Kagistia Hana Utami, Kerem Fidan, Dong Shin Park, Benoit Malleret, Svetoslav Chakarov, Peter See, Donovan Low, Gillian Low, Marta Garcia-Miralles, Ruizhu Zeng, Jinqiu Zhang, Chi Ching Goh, Ahmet Gul, Sandra Hubert, Bernett Lee, Jinmiao Chen, Ivy Low, Nurhidaya Binte Shadan, Josephine Lum, Tay Seok Wei, Esther Mok, Shohei Kawanishi, Yoshihisa Kitamura, Anis Larbi, Michael Poidinger, Laurent Renia, Lai Guan Ng, Yochai Wolf, Steffen Jung, Tamer Önder, Evan Newell, Tara Huber, Eishi Ashihara, Sonia Garel, Mahmoud A Pouladi, Florent Ginhoux
Tissue macrophages arise during embryogenesis from yolk-sac (YS) progenitors that give rise to primitive YS macrophages. Until recently, it has been impossible to isolate or derive sufficient numbers of YS-derived macrophages for further study, but data now suggest that induced pluripotent stem cells (iPSCs) can be driven to undergo a process reminiscent of YS-hematopoiesis in vitro. We asked whether iPSC-derived primitive macrophages (iMacs) can terminally differentiate into specialized macrophages with the help of growth factors and organ-specific cues...
July 18, 2017: Immunity
https://www.readbyqxmd.com/read/28705183/generic-amplification-and-next-generation-sequencing-reveal-crimean-congo-hemorrhagic-fever-virus-ap92-like-strain-and-distinct-tick-phleboviruses-in-anatolia-turkey
#2
Ender Dinçer, Annika Brinkmann, Olcay Hekimoğlu, Sabri Hacıoğlu, Katalin Földes, Zeynep Karapınar, Pelin Fatoş Polat, Bekir Oğuz, Özlem Orunç Kılınç, Peter Hagedorn, Nurdan Özer, Aykut Özkul, Andreas Nitsche, Koray Ergünay
BACKGROUND: Ticks are involved with the transmission of several viruses with significant health impact. As incidences of tick-borne viral infections are rising, several novel and divergent tick- associated viruses have recently been documented to exist and circulate worldwide. This study was performed as a cross-sectional screening for all major tick-borne viruses in several regions in Turkey. Next generation sequencing (NGS) was employed for virus genome characterization. Ticks were collected at 43 locations in 14 provinces across the Aegean, Thrace, Mediterranean, Black Sea, central, southern and eastern regions of Anatolia during 2014-2016...
July 14, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28690860/the-detection-of-a-novel-insertion-mutation-in-exon-2-of-the-mefv-gene-associated-with-familial-mediterranean-fever-in-a-moroccan-family
#3
Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Mustapha Hida, Driss Couissi, Karim Ouldim
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28680306/changes-in-cerebral-blood-flow-in-patients-with-familial-mediterranean-fever
#4
Gözde Çetin, Uygar Utku, Nurhan Atilla, Kadir Gişi, Mehmet Sayarlioğlu
INTRODUCTION: It is known that there is a relationship between systemic inflammation and atherosclerosis. Atherosclerosis is one of the best-known causes of cerebrovascular diseases. The aim of this study was to assess cerebral blood flow velocity using transcranial Doppler (TCD) ultrasonography in patients with familial Mediterranean fever (FMF). METHODS: A total of 30 patients aged from 20 to 50 years with FMF were enrolled in the FMF group consecutively. The control group (non-FMF group) consisted of 30 age- and sex-matched randomly selected patients without FMF who had other diagnoses such as fibromyalgia and did not have risk factors for atherosclerosis...
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28678379/a-novel-cluster-of-patients-with-familial-mediterranean-fever-in-southern-italy
#5
Leonilde Bonfrate, Giuseppe Scaccianoce, Giuseppe Palasciano, Eldad Ben-Chetrit, Piero Portincasa
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent attacks of fever and serositis (peritonitis, pleuritic or synovitis) affecting mainly populations of Mediterranean origin. AIM: To describe a relatively new cluster of FMF subjects from Apulia and Basilicata regions (southern Italy). PATIENTS AND METHODS: Subjects were screened for FMF using the Tel-Hashomer criteria and genetic analysis...
July 5, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28653374/a-familial-mediterranean-fever-flare-induced-by-a-drug-reaction-with-eosinophilia-and-systemic-symptoms
#6
A Deschamps, A Samain, P Carvalho, P Courville, H Levesque, P Musette, P Joly
Familial Mediterranean Fever (FMF) is an autosomal recessive inherited auto-inflammatory disease revealed by flare episodes characterized by systemic symptoms (pleural, joint serositis, abdominal pain…) that are triggered by infections, cold or menstruations. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) is a severe cutaneous adverse reaction characterized by visceral involvement and viral reactivation including HHV6, HHV7, EBV, CMV… and may be associated with certain HLA alleles. This article is protected by copyright...
June 27, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#7
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28624931/familial-mediterranean-fever-review-of-the-literature
#8
Mansour Alghamdi
Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1...
August 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28607791/benign-multicystic-peritoneal-mesothelioma-a-rare-condition-in-an-uncommon-gender
#9
Muhammad S Khurram, Hamadullah Shaikh, Uqba Khan, Jacob Edens, Warda Ibrar, Ameer Hamza, Awais Zaka, Roohi Bano, Tarik Hadid
Benign Multicystic Peritoneal Mesothelioma (BMPM) is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC)...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28606022/severity-and-frequency-of-restless-legs-syndrome-in-patients-with-familial-mediterranean-fever
#10
Samet Yılmaz, Burhanettin Çiğdem, Şeyda Figül Gökçe, Sevil Ceyhan-Doğan, Hatice Balaban
OBJECTIVE: Restless legs syndrome (RLS) is a common sensory motor disorder. RLS an urge to move the extremities that may be accompanied by dysesthesias, and significantly affects quality of life of affected patients. The frequency of RLS is higher in different systemic inflammatory diseases. Familial Mediterranean fever (FMF) is an inherited inflammatory disease characterized by attacks of polyserositis, arthritis, and fever. The prevalence of RLS in patients with FMF is unknown. This study aimed to evaluate the prevalence rate of RLS in a sample of patients with FMF and compare this prevalence with that of a matched normal population...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28598780/the-liver-in-familial-mediterranean-fever-is-it-involved
#11
REVIEW
Eldad Ben-Chetrit, Hasan Yazici
OBJECTIVES: Familial Mediterranean fever (FMF) is characterised by recurrent attacks of fever and serositis. It may affect the peritoneum, pleura, synovia and the skin. Usually the liver is intact in FMF. Recently, this concept was challenged by some groups which claimed that hepatitis is a feature of FMF and that non-alcoholic liver disease (NAFLD) and cryptogenic cirrhosis are more common among FMF patients. Scope of this paper is to critically review the relevant literature and to answer the question whether or not the liver is involved in FMF...
June 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28598319/are-children-with-familial-mediterranean-fever-really-vitamin-d-deficient
#12
Fatih Mehmet Kelesoglu, Erhan Aygun, Gafur Dogdu, Sena Ozer, Ciftkaya Aylin, Helin Ay, Kaya Seyma, Osman Karli, Fatih Orem, Rukiye Eker Omeroglu
****************************************************************************.
May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#13
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28590056/r202q-m694v-as-novel-mefv-gene-mutations-in-chronic-periodontitis-and-familial-mediterranean-fever
#14
Ö Fentoğlu, G Dinç, Ö Bağcı, A Doğru, I İlhan, F Y Kırzıoğlu, H Orhan
BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations in the Mediterranean fever (MEFV) gene in patients with chronic periodontitis, although the roles of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) are well known. Therefore, the aim of this study was to evaluate the frequencies of MEFV gene mutations and serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF and FMF-A...
June 7, 2017: Journal of Periodontal Research
https://www.readbyqxmd.com/read/28589388/-efficacy-and-safety-analysis-of-off-label-treatment-with-biologics-in-autoinflammatory-diseases-experiences-from-a%C3%A2-german-registry%C3%A2-graid2
#15
F Proft, M Fleck, C Fiehn, H Schulze-Koops, M Witt, T Dörner, J C Henes
OBJECTIVE: To evaluate the safety and efficacy of therapy with biologics in patients with autoinflammatory diseases (AIF) or macrophage activating syndrome (MAS) in a real-life setting in Germany. METHODS: The German Register of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry collecting data from all patients with inflammatory rheumatic diseases refractory to conventional therapy and treated with initial off-label biologics between August 2006 and December 2013...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28588821/coupling-clinical-exome-sequencing-with-functional-characterization-studies-to-diagnose-a-patient-with-familial-mediterranean-fever-and-med13l-haploinsufficiency-syndromes
#16
Sureni V Mullegama, Phillip Jensik, Chen Li, Naghmeh Dorrani, Sibel Kantarci, Bruce Blumberg, Wayne W Grody, Samuel P Strom
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588486/potential-of-il-1-il-18-and-inflammasome-inhibition-for-the-treatment-of-inflammatory-skin-diseases
#17
REVIEW
Gabriele Fenini, Emmanuel Contassot, Lars E French
In 2002, intracellular protein complexes known as the inflammasomes were discovered and were shown to have a crucial role in the sensing of intracellular pathogen- and danger-associated molecular patterns (PAMPs and DAMPs). Activation of the inflammasomes results in the processing and subsequent secretion of the pro-inflammatory cytokines IL-1β and IL-18. Several autoinflammatory disorders such as cryopyrin-associated periodic syndromes and Familial Mediterranean Fever have been associated with mutations of genes encoding inflammasome components...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#18
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28581880/does-familial-mediterranean-fever-affect-cognitive-function-in-children-electrophysiological-preliminary-study
#19
Gonca Keskindemirci, Gökçer Eskikurt, Nuray Aktay Ayaz, Mustafa Çakan, Numan Ermutlu, Ümmühan İşoğlu Alkaç
OBJECTIVES: Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease with subclinical inflammation occurring between attacks. The aim of the study was to prospectively evaluate the cognitive function of children diagnosed with FMF that were under colchicine therapy and compare them with healthy controls through electrophysiologically event-related potentials (ERPs) study. METHODS: Twelve children with FMF and 12 healthy controls were included in the study...
June 5, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#20
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
keyword
keyword
59123
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"