Carlos Córdova-Fletes, Martha M Rangel-Sosa, Lizeth A Martínez-Jacobo, Luis Eduardo Becerra-Solano, Carmen Araceli Arellano-Valdés, José Alberto Tlacuilo-Parra, Kame Alberto Galán-Huerta, Ana María Rivas-Estilla, Angélica Alejandra Hernandez-Orozco, José Elías García-Ortiz
Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the NOD2 gene, which encodes for a multi-task protein that plays a crucial role in the innate immune defense. We report on three Mexican patients clinically diagnosed with BS who exhibited a likely pathogenic variant in NOD2 as revealed by whole-exome sequencing (WES) and Sanger sequencing: two variants (c...
September 2020: Autoimmunity
M H Celiksoy, C Dogan, B Erturk, E Keskin, B S Ada
BACKGROUND: Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene. METHODS: A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018. RESULTS: A total of 454 patients with familial Mediterranean fever were evaluated...
April 28, 2020: Allergologia et Immunopathologia
Dan-Fang Lu, Xiao-Mei Tong
OBJECTIVE: To study the clinical features, etiology, treatment, and prognosis of neonatal chylous effusions. METHODS: A retrospective analysis was performed for the clinical data of 21 neonates with chylous effusions. RESULTS: Among these 21 neonates, 13 had chylothorax, 2 had chyloperitoneum, 2 had chylopericardium, and 4 had chylous polyserositis. Five neonates with congenital chylous effusions were enrolled as the congenital group, which mostly occurred in the fetal period, and symptoms were observed shortly after birth...
April 2020: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Thibault Fraisse, Léa Savey, Véronique Hentgen, Linda Rossi-Semerano, Isabelle Koné-Paut, Gilles Grateau, Sophie Georgin-Lavialle, Stéphanie Ducharme-Bénard
INTRODUCTION: Familial Mediterranean fever (FMF), the most frequent autoinflammatory disease, is caused by mutations in the MEFV gene. It is characterized by recurrent febrile attacks of polyserositis. Liver abnormalities may develop during its course, but they remain poorly defined. OBJECTIVE: To describe liver involvement in FMF patients. METHODS: A systematic search was conducted through PubMed/Medline and Embase from 1946 to January 2020...
June 2020: Liver International: Official Journal of the International Association for the Study of the Liver
Olga Vampertzi, Kyriaki Papadopoulou-Legbelou, Areti Triantafyllou, Stella Douma, Efimia Papadopoulou-Alataki
Familial Mediterranean fever is a chronic inflammatory disease characterized by periodic and self-limited episodes of fever and aseptic polyserositis. Although colchicine treatment has altered the course of the disease, it is believed that subclinical inflammation is still present, leading to endothelial dysfunction and atherosclerosis in the course of time. In this review, following the published recommendations, we queried online databases such as MEDLINE Pubmed, Scopus, and Web of science for peer-reviewed studies and reviews written in English language, using the following keywords: familial Mediterranean fever, children, endothelial dysfunction, atherosclerosis, cardiovascular disease...
November 8, 2019: Rheumatology International
Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney...
August 31, 2017: BMC Medical Genetics
Q Liu, H Zhang, Y M Zhao, L L Zhou, B H Gao, Y P Chen
Objective: To analyze the clinical, pathological and radiological characteristics of paragonimiasis in children for accurate diagnosis and therapy. Methods: A total of 31 patients with paragonimiasis treated from 2002 to 2016 were selected, including 17 cases from migrant areas and 14 cases from Wenzhou area. Results: In migrant children group, the serum IgE was significantly higher than that in Wenzhou area group [(2 379±944) IU/mL∶(1 552±1 121) IU/mL, t =-2.23, P <0.05], and the duration of therapy was remarkable longer [(13...
February 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Linda Wagner-Weiner
Systemic juvenile idiopathic arthritis (sJIA) is characterized by a large range of extra-articular manifestations in addition to joint inflammation. The child with sJIA usually presents with a spiking fever pattern, evanescent rash, and arthralgias/arthritis. Other features often present are lymphadenopathy, hepatosplenomegaly, and polyserositis. The systemic manifestations are frequently more prominent and severe than the arthritis. Laboratory studies reflect systemic inflammation with significant anemia, and elevation of acute phase reactants, platelets, and white blood cell count...
June 2015: Pediatric Annals
Elif Çomak, Özlem Tüfekçi, Fatih Kılıçbay, Emel Isıyel, Ali Haydar Sever, Ayça Aslanger, Barış Ekici
BACKGROUND: Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent bouts of fever and polyserositis and caused by MEditerranean FeVer gene (MEFV) mutations. Given the febrile characteristics of the disease one would expect higher frequency of febrile seizure in this group of pediatric patients. OBJECTIVES: To evaluate the frequency of febrile seizure and related factors in patients with FMF. METHODS: The children with the diagnosis of FMF were enrolled in the study...
September 2015: European Journal of Paediatric Neurology: EJPN
Mike M Moradian, Tamara Sarkisian, Gayane Amaryan, Hasmik Hayrapetyan, Anna Yeghiazaryan, Nairi Davidian, Nare Avanesian
PURPOSE: In this study, we present clinical data from 16,000 familial Mediterranean fever patients. We also discuss the clinical manifestation of a subset of these patients and their potential symptom associations with other disorders. METHODS: Familial Mediterranean fever patients were confirmed using Tel-Hashomer criteria and were tested for the 12 most common mutations using the familial Mediterranean fever StripAssay. A total of 100 samples were selected, and their MEFV gene exons and intron junctions were completely sequenced...
March 2014: Genetics in Medicine: Official Journal of the American College of Medical Genetics
S Shrestha, Singh S Dongol, N C Shrestha, R P B Shrestha
BACKGROUND: Eosinophilia in children is commonly caused by or parasitic, allergic and immunologic problems. OBJECTIVES: To study clinical and laboratory profile of patients with eosinophilia and to identify possible causes. METHOD: A prospective and descriptive study was conducted from January 2009- December 2011. All the cases of eosinophilia with symptoms and signs of single or multiple organ were included. The known cause of eosinophilia like allergy, asthma and drugs were excluded...
April 2012: Kathmandu University Medical Journal (KUMJ)
Bülent Koca, Ozgür Kasapçopur, Süleyman Bakari, Emine Sönmez, Funda Oztunç, Ayşe Güler Eroğlu, Levent Saltik, Ozden Calay
Familial Mediterranean fever is a hereditary disease characterised by recurrent and self-terminated attacks of fever and polyserositis. An earlier study found that adult patients of Familial Mediterranean fever had an abnormally longer QT dispersion and corrected QT dispersion, markers for ventricular arrhythmogenicity. QT dispersion is a simple non-invasive arrhythmogenic marker that can be used to assess homogeneity of cardiac repolarisation; however, it has not been studied in children with Familial Mediterranean fever before...
August 2012: Cardiology in the Young
Mei Guo, Wei Wang, Jian-yu Jiang
Clinical data of 39 children with paragonimiasis treated in Chongqing Three Gorges Central Hospital during 2008-2010 were retrospectively analyzed. The cases aged from 3 to 10 years old, with 25 cases of polyserositis (64.1%), 14 cases of cerebral paragonimiasis (35.9%). Among the cases of polyserositis, all showed dyspnea,tachypnea and diminished respiration (100%). Other symptoms or signs included purulent pleurisy, orthopnea, restricted activity, distant heart sounds, purulent pericarditis, abdominal distension, and hepatomegaly...
August 2011: chinese Journal of Parasitology & Parasitic Diseases
Neda Zadeh, Terri Getzug, Wayne W Grody
Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children...
March 2011: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Shai Padeh, Avi Livneh, Elon Pras, Yael Shinar, Merav Lidar, Olga Feld, Yackov Berkun
OBJECTIVE: Familial Mediterranean fever (FMF) is an inherited disease characterized by attacks of febrile polyserositis. In children, attacks of fever alone, or with headache and malaise, may precede other forms of attacks. Our objective was clinical and genetic characterization of FMF and its development in pediatric patients who first presented with attacks of fever alone. METHODS: Clinical characterization and MEFV genotype of all FMF patients < 16 years of age at disease onset and first presenting with attacks of fever alone were analyzed and compared for age, sex, and disease duration with matched FMF patients presenting with serositis at the onset of the disease...
April 2010: Journal of Rheumatology
Resul Yilmaz, Samet Ozer, Huseyin Ozyurt, Unal Erkorkmaz, Semsettin Sahin
AIM: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent episodes of fever, polyserositis and rash. The aim of this study was to determine the most common mutations and clinical features, and their relationships. METHODS: The medical records of 78 patients were evaluated retrospectively. All of the patients had been diagnosed with FMF according to Tel Hashomer criteria between January 2005 and May 2008 in general paediatric clinics of the School of Medicine at Gaziosmanpasa University...
November 2009: Journal of Paediatrics and Child Health
Salih Kavukcu, Mehmet Türkmen, Alper Soylu, Belde Kasap, Burçak Tatli Güneş
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and polyserositis. It is the most frequent periodic fever syndrome. In FMF, sterile peritonitis, pleuritis and arthritis are frequently seen in addition to recurrent febrile attacks. Skin and muscle involvement is less common. Here, we report four patients presented with skin lesions or myalgia. Most striking findings in those patients are the absence of other major criteria for FMF and dominancy of skin lesions or myalgia...
July 2009: Clinical Rheumatology
Ayşe Balat, Ismail Işlek, Mustafa Cekmen, Muhittin Yürekli, Deniz Tekin, Ali Muslu, Saime Sahinöz
AIM: Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterised by recurrent attacks of polyserositis. However, recent studies revealed that there might be an ongoing subclinical inflammation between the attacks. As nitric oxide (NO) and adrenomedullin (AM) are both synthesised in the endothelium, and mediates many functions within immune system, we considered them to be an interesting target of investigation in FMF. METHODS: Fifteen children with FMF receiving regular colchicine, ranging in age from 3 to 16 years, were investigated in comparison with 15 healthy age- and sex-matched controls...
May 2006: Journal of Paediatrics and Child Health
No abstract text is available yet for this article.
September 1962: Pediatrics
J Neequaye, A E Jelly
The clinical features of two cases of Hereditary Recurrent Polyserositis HRP (Familial Mediterranean Fever) in related Yemeni children resident in Saudi Arabia are described. One presented with recurrent acute hepatitis, which has not been previously documented. These are the first cases of HRP reported in Arabs originating from the Arabian Peninsula.
August 1994: Journal of Tropical Pediatrics
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


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"