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1.
Artigo em Russo | MEDLINE | ID: mdl-32621472

RESUMO

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system, mainly affecting the brain stem, cerebellum and spinal cord. The clinical picture includes gradually developing ataxia, double vision, dysarthria, pyramidal and cognitive impairment. Morphological examination reveals T-cell perivascular lymphocytic infiltration with CD4 lymphocytes predominance over CD8 lymphocytes. The cause of the disease is unknown. The article describes two patients (a 18-year-old woman and a 40-year-old man) with typical clinical and MRI manifestations of CLIPPERS, which was confirmed by brain biopsy in the female patient. The duration of follow-up was 3 and 7 years, respectively. Both patients survived an infection 2-3 weeks before the onset of disease that allows one to discuss its role in CLIPPERS pathogenesis. Both patients had a clear clinical and MRI responsiveness to steroids. In the female patient, steroids were replaced by intramuscular administration of the TNF-α blocker adalimumab. During 1,5 years of its use, there were no clinical relapses and pathological brain changes on MRI.


Assuntos
Inflamação , Ponte , Adolescente , Adulto , Encéfalo , Doença Crônica , Feminino , Humanos , Linfadenite , Imagem por Ressonância Magnética , Masculino , Esteroides
2.
Proc Natl Acad Sci U S A ; 117(25): 14405-14411, 2020 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-32518111

RESUMO

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. We queried two European-American cohorts and one Turkish cohort (total n = 231) of individuals with PFAPA for common variants previously associated with two other oropharyngeal ulcerative disorders, Behçet's disease and recurrent aphthous stomatitis. In a metaanalysis, we found that a variant upstream of IL12A (rs17753641) is strongly associated with PFAPA (OR 2.13, P = 6 × 10-9). We demonstrated that monocytes from individuals who are heterozygous or homozygous for this risk allele produce significantly higher levels of IL-12p70 upon IFN-γ and LPS stimulation than those from individuals without the risk allele. We also found that variants near STAT4, IL10, and CCR1-CCR3 were significant susceptibility loci for PFAPA, suggesting that the pathogenesis of PFAPA involves abnormal antigen-presenting cell function and T cell activity and polarization, thereby implicating both innate and adaptive immune responses at the oropharyngeal mucosa. Our results illustrate genetic similarities among recurrent aphthous stomatitis, PFAPA, and Behçet's disease, placing these disorders on a common spectrum, with recurrent aphthous stomatitis on the mild end, Behçet's disease on the severe end, and PFAPA intermediate. We propose naming these disorders Behçet's spectrum disorders to highlight their relationship. HLA alleles may be factors that influence phenotypes along this spectrum as we found new class I and II HLA associations for PFAPA distinct from Behçet's disease and recurrent aphthous stomatitis.


Assuntos
Síndrome de Behçet/genética , Febre/genética , Predisposição Genética para Doença , Linfadenite/genética , Faringite/genética , Estomatite Aftosa/genética , Alelos , Síndrome de Behçet/imunologia , Criança , Estudos de Coortes , Febre/imunologia , Genes MHC Classe I/genética , Genes MHC Classe I/imunologia , Genes MHC da Classe II/genética , Genes MHC da Classe II/imunologia , Loci Gênicos/imunologia , Humanos , Linfadenite/imunologia , Faringite/imunologia , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Estomatite Aftosa/imunologia , Síndrome
3.
Paediatr Drugs ; 22(3): 243-250, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32342289

RESUMO

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is characterized by recurrent fever flares accompanied by symptoms and signs forming the disease acronym and alternating with asymptomatic periods. Despite the disease having a generally favorable outcome, with spontaneous remission after a few years, it does have a major impact on the quality of life of the child and his or her relatives. Beside symptomatic medications during fever flares, the most used treatment consists of a single dose of corticosteroids at flare onset to interrupt the attack; fever resolves usually within a few hours, but often with a shorter interval between the attacks. For these patients, colchicine has been shown to decrease the frequency of the flares. Other medications were also reported in case series of patients with PFAPA syndrome. These include the interleukin-1 blocker anakinra to treat flares, cimetidine (which showed no convincing effect), and other drugs with anecdotal use. The pediatrician faces a difficult question: should they wait for spontaneous disease resolution and only treat the flares medically, or should they propose tonsillectomy that may induce remission? Due to the lack of strong evidence, the answer will vary on an individual basis, depending on the impact on the patient's quality of life. The choice of the best therapeutic strategy will be based on the response to the flare-based therapy and on disease severity (quality of life, school performances); long-term data on the remission rate under the different therapeutic strategies are currently missing. More randomized controlled studies are needed to help the treating physician to choose the best therapy, as well as real-life long-term data to evaluate the long-term outcome of children with PFAPA syndrome.


Assuntos
Febre/terapia , Linfadenite/terapia , Faringite/terapia , Qualidade de Vida/psicologia , Estomatite Aftosa/terapia , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome
5.
Arerugi ; 69(1): 53-58, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-32051370

RESUMO

We report an adult case of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, who had a tonsillectomy at 10 years old and relapsed later. An early 40's-year-old man had been suffering from recurrent fever attack once in 1-2 months during childhood. He was accompanied by fever which was persist for several days, aphthous stomatitis, tongued tonsillitis with moss, pharyngitis, and submandibular lymphadenitis with tenderness. He was not doing well during fare-up. At the time of admission, CRP level was 12.5mg/dl and the remarkably increased expression of CD64 on neutrophils was found. Bacterial infections and collagen diseases were excluded by the several examinations. We suspected PFAPA syndrome, and treated with cimetidine, but cimetidine was not effective. At the time of flare up, administration of prednisolone was remarkably effective. We diagnosed PFAPA syndrome on the basis of clinical courses. Genetic analysis of responsible gene of familial Mediterranean fever, MEFV showed E148Q heterozygous mutation in exon 2.Since an adult case of PFAPA syndrome is likely to be made misunderstanding for infectious recurrent pharyngitis, it is important to note that we should consider PFAPA syndrome as a differential diagnosis when we meet with the adult patient of recurrent fever.


Assuntos
Febre/diagnóstico , Linfadenite/diagnóstico , Faringite/diagnóstico , Pirina/genética , Estomatite Aftosa/diagnóstico , Adulto , Criança , Humanos , Masculino , Recidiva , Síndrome
6.
Arq. bras. med. vet. zootec. (Online) ; 72(1): 199-207, Jan.-Feb. 2020. tab, graf, ilus
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1088910

RESUMO

The target cp1002_RS01850 from Corynebacterium pseudotuberculosis was used to construct a DNA and recombinant subunit vaccine against caseous lymphadenitis. Recombinant protein rCP01850 was expressed in Escherichia coli using pAE vector, and DNA vaccine was engineered with pTARGET vector. BALB/c mice were divided in five groups containing eight animals each, inoculated with: pTARGET/cp01850 as DNA vaccine (G1); rCP01850 plus Al (OH)3 as recombinant subunit vaccine (G2); pTARGET/cp01850 and a boost with rCP01850 plus Al (OH)3 (G3); pTARGET (G4); or Al (OH)3 (G5). Mice were inoculated and blood samples were collected on days 0, 21, and 42 for the analysis of total IgG, IgG1 and IgG2a by ELISA. In each group, five animals were challenged with Mic-6 C. pseudotuberculosis strain, and three were used for cytokine quantification by qPCR. Although no group has been protected by vaccines against lethal challenge, G2 showed an increase in the survival rate after challenge. Significantly higher levels of IL-4, IL-12, IFN-γ, total IgG, IgG1 and IgG2a were also detected for G2, evidencing a mixed Th1/Th2 immunological profile. In conclusion, despite no protection level provided by different vaccinal strategies using cp1002_RS01850 from C. pseudotuberculosis, G2 developed a Th1/Th2 immune response with an increase in survival rate.(AU)


O alvo cp1002_RS01850 de Corynebacterium pseudotuberculosis foi utilizado para construir uma vacina recombinante de subunidade e de DNA contra a linfadenite caseosa. A proteína recombinante rCP01850 foi expressa em Escherichia coli usando o vetor pAE, e a vacina de DNA foi construída com o vetor pTARGET. Camundongos BALB/c foram divididos em grupos de oito animais, inoculados com: pTARGET/cp01850 como vacina de DNA (G1); rCP01850 e Al (OH)3 como vacina recombinante de subunidade (G2); pTARGET/cp01850 e um boost com rCP01850 e Al (OH)3 (G3); pTARGET (G4); ou Al (OH)3 (G5). Os animais foram inoculados e amostras de sangue foram coletadas nos dias 0, 21, e 42 do experimento para a análise de IgG total, IgG1 e IgG2a por ELISA. De cada grupo, cinco animais foram desafiados com a cepa Mic-6 de C. pseudotuberculosis, e três foram usados para a quantificação de citocinas por qPCR. Apesar de nenhum grupo ter sido protegido pelas vacinas testadas contra o desafio letal, G2 apresentou taxa de sobrevida e níveis de IL-4, IL-12, IFN-γ, IgG total, IgG1 e IgG2a significativamente mais altos, evidenciando um perfil imunológico misto Th1/Th2. Conclui-se que apesar das diferentes estratégias vacinais utilizando cp1002_RS01850 de C. pseudotuberculosis não terem sido capazes de gerar proteção, G2 desenvolveu uma resposta Th1/Th2 e elevou a taxa de sobrevida.(AU)


Assuntos
Animais , Camundongos , Fosfatase Ácida , Imunização Secundária/veterinária , Corynebacterium pseudotuberculosis , Linfadenite/imunologia , Proteínas Recombinantes , Hidróxido de Alumínio
8.
Vet Radiol Ultrasound ; 61(1): E6-E11, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29544023

RESUMO

A 2-year-old Boer doe was presented with respiratory distress and severe inspiratory dyspnea. Cervical and thoracic radiographs revealed a marked retropharyngeal soft tissue mass effect, several mineralized pharyngeal and retropharyngeal structures, and a pulmonary mass. Computed tomography (CT) revealed a severely enlarged right medial retropharyngeal lymph node, which caused laryngeal compression, leading to upper airway obstruction. Multiple cervical and thoracic lymph nodes, and the pulmonary mass had an irregular layered/laminated pattern of mineralization. Imaging findings were consistent with caseous lymphadenitis, and further confirmed with culture, necropsy, and histopathology. This is the first report of CT appearance of caseous lymphadenitis in a goat.


Assuntos
Doenças das Cabras/diagnóstico por imagem , Linfadenite/veterinária , Animais , Feminino , Doenças das Cabras/patologia , Cabras , Linfadenite/diagnóstico por imagem , Linfadenite/patologia , Radiografia/veterinária , Tomografia Computadorizada por Raios X/veterinária
9.
Med. lab ; 24(2): 141-151, 2020.
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1097268

RESUMO

El síndrome PFAPA es la entidad más frecuente dentro de los síndromes de fiebres periódicas que pueden manifestarse desde la infancia. Es un síndrome autoinflamatorio caracterizado por una disfunción en las citoquinas, de carácter autolimitado y de etiología desconocida, aunque se han reportado casos de presentación familiar; lo que sugiere la existencia de una base genética de la enfermedad. Se presenta con episodios febriles que suelen acompañarse de aftas orales, adenopatías cervicales, faringoamigdalitis y síntomas constitucionales. En los exámenes de laboratorio es frecuente encontrar elevación marcada de la proteína C reactiva, leucocitosis y aumento de IgG, IgA e IgM. El diagnóstico se realiza utilizando los criterios modificados de Thomas, que incluyen parámetros clínicos, antecedentes y diagnósticos de exclusión. Se presenta el caso de un paciente de 4 años de edad que consultó a un hospital por un cuadro febril, movimientos tónico-clónicos generalizados, desviación de la mirada, sialorrea y relajación de esfínteres. También presentó cefalea de localización frontal y odinofagia. En la cavidad oral se observaron lesiones tipo aftas, y se evidenciaron adenopatías cervicales. El paciente no respondió al manejo con antibióticos, y se observó que cumplía con los criterios de diagnóstico para síndrome PFAPA, luego de descartarse un proceso infeccioso. Se inició terapia con corticoides con respuesta favorable y se concluyó que el paciente tenía un cuadro compatible con síndrome PFAPA.


PFAPA syndrome is the most frequent illness within the syndromes of periodic fevers manifesting during childhood. It is an auto-inflammatory syndrome characterized by cytokine dysfunction, a self-limiting nature, and unknown etiology; family cases have been reported, suggesting the existence of a genetic basis for the disease. PFAPA syndrome is manifested with febrile episodes that are usually accompanied by oral aphthae, cervical adenopathy, pharyngotonsillitis and constitutional symptoms. In laboratory tests, it is common to find marked elevation of C reactive protein, leukocytosis and increased IgG, IgA and IgM levels. Diagnosis is reached by means of the modified Thomas criteria that include clinical parameters, personal and family history, and exclusion diagnoses. The case of a 4-year-old patient who visited the hospital with fever, generalized tonic-clonic seizures and sphincter relaxation is presented. The patient reported frontal headache and odynophagia. Aphthous stomatitis was observed, and cervical adenopathies were evident. The patient did not respond to antibiotic therapy, and met the diagnostic criteria for PFAPA syndrome after an infectious process was ruled out. Corticosteroid therapy was initiated with a favorable response. It was concluded that the patient had a diagnosis compatible with PFAPA syndrome


Assuntos
Humanos , Animais , Estomatite Aftosa , Faringite , Linfadenopatia , Febre Aftosa , Linfadenite
10.
Cochrane Database Syst Rev ; 12: CD008669, 2019 12 30.
Artigo em Inglês | MEDLINE | ID: mdl-31886897

RESUMO

BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a rare clinical syndrome of unknown cause usually identified in children. Tonsillectomy is considered a potential treatment option for this syndrome. This is an update of a Cochrane Review first published in 2010 and previously updated in 2014. OBJECTIVES: To assess the effectiveness and safety of tonsillectomy (with or without adenoidectomy) compared with non-surgical treatment in the management of children with PFAPA. SEARCH METHODS: The Cochrane ENT Information Specialist searched the Cochrane ENT Trials Register; Central Register of Controlled Trials (CENTRAL 2019, Issue 4); PubMed; Ovid Embase; CINAHL; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 15 October 2019. SELECTION CRITERIA: Randomised controlled trials comparing tonsillectomy (with or without adenoidectomy) with non-surgical treatment in children with PFAPA. DATA COLLECTION AND ANALYSIS: We used the standard methodological procedures expected by Cochrane. The primary outcomes were the proportion of children whose symptoms have completely resolved and complications of surgery (haemorrhage and number of days of postoperative pain). Secondary outcomes were: number of episodes of fever and the associated symptoms; severity of episodes; use of corticosteroids; absence or time off school; quality of life. We used GRADE to assess the certainty of the evidence for each outcome. MAIN RESULTS: Two trials were included with a total of 67 children randomised (65 analysed); we judged both to be at low risk of bias. One trial of 39 participants recruited children with PFAPA syndrome diagnosed according to rigid, standard criteria. The trial compared adenotonsillectomy to watchful waiting and followed up patients for 18 months. A smaller trial of 28 children applied less stringent criteria for diagnosing PFAPA and probably also included participants with alternative types of recurrent pharyngitis. This trial compared tonsillectomy alone to no treatment and followed up patients for six months. Combining the trial results suggests that patients with PFAPA likely experience less fever and less severe episodes after surgery compared to those receiving no surgery. The risk ratio (RR) for immediate resolution of symptoms after surgery that persisted until the end of follow-up was 4.38 (95% confidence interval (CI) 0.64 to 30.11); number needed to treat to benefit (NNTB) = 2, calculated based on an estimate that 156 in 1000 untreated children have a resolution) (moderate-certainty evidence). Both trials reported that there were no complications of surgery. However, the numbers of patients randomly allocated to surgery (19 and 14 patients respectively) were too small to detect potentially important complications such as haemorrhage. Surgery probably results in a large overall reduction in the average number of episodes over the total length of follow-up (rate ratio 0.08, 95% CI 0.05 to 0.13), reducing the average frequency of PFAPA episodes from one every two months to slightly less than one every two years (moderate-certainty evidence). Surgery also likely reduces severity, as indicated by the length of PFAPA symptoms during these episodes. One study reported that the average number of days per PFAPA episode was 1.7 days after receiving surgery, compared to 3.5 days in the control group (moderate-certainty evidence). The evidence suggests that the proportion of patients requiring corticosteroids was also lower in the surgery group compared to those receiving no surgery (RR 0.58, 95% CI 0.37 to 0.92) (low-certainty evidence). Other outcomes such as absence from school and quality of life were not measured or reported. AUTHORS' CONCLUSIONS: The evidence for the effectiveness of tonsillectomy in children with PFAPA syndrome is derived from two small randomised controlled trials. These trials reported significant beneficial effects of surgery compared to no surgery on immediate and complete symptom resolution (NNTB = 2) and a substantial reduction in the frequency and severity (length of episode) of any further symptoms experienced. However, the evidence is of moderate certainty (further research is likely to have an important impact on our confidence in the estimate of effect and may change the estimate) due to the relatively small sample sizes of the studies and some concerns about the applicability of the results. Therefore, the parents and carers of children with PFAPA syndrome must weigh the risks and consequences of surgery against the alternative of using medications. It is well established that children with PFAPA syndrome recover spontaneously and medication can be administered to try and reduce the severity of individual episodes. It is uncertain whether adenoidectomy combined with tonsillectomy adds any additional benefit to tonsillectomy alone.


Assuntos
Linfadenite/cirurgia , Faringite/cirurgia , Estomatite Aftosa/cirurgia , Tonsilectomia/métodos , Adenoidectomia/métodos , Criança , Pré-Escolar , Febre/cirurgia , Humanos , Lactente , Periodicidade , Ensaios Clínicos Controlados Aleatórios como Assunto , Síndrome
11.
Reumatol. clín. (Barc.) ; 15(6): 355-359, nov.-dic. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-189653

RESUMO

INTRODUCCIÓN: El síndrome PFAPA es una enfermedad autoinflamatoria de diagnóstico clínico. Se han propuesto diversos tratamientos; entre ellos, la tonsilectomía podría ser un tratamiento efectivo. MATERIAL Y MÉTODOS: Estudio multicéntrico retrospectivo. Se incluyeron pacientes diagnosticados de síndrome PFAPA, según los criterios de Thomas, en 3 hospitales madrileños, entre 2009-2013. RESULTADOS: Se incluyeron 32 casos. Las medianas de edad de inicio del cuadro y al diagnóstico fueron 32 meses (RIQ 24-44) y 47,5 meses (RIQ 37-60), respectivamente. Se hallaron incrementos en las cifras de leucocitos (13.580/μl [RIQ 8.200-16.600] vs.8.300/μl [RIQ 7.130-9.650], p = 0,005), neutrófilos (9.340/μl [RIQ 5.900-11.620] vs.3.660/μl [RIQ 2.950-4.580], p = 0,002) y proteína C reactiva (11,0mg/dl [RIQ 6,6-12,7] vs.0,2mg/dl [RIQ 0,1-0,6], p = 0,003) durante los episodios febriles, respecto a los periodos libres de síntomas. El 80,8% refería remisión de los síntomas en 24h tras corticoterapia oral. Fueron tonsilectomizados 14 pacientes. En 11 cesaron los episodios febriles, mientras que en 3 se redujo su frecuencia; hubo 2 sangrados posquirúrgicos como complicación. El cuadro se había resuelto en el 56,3% de los pacientes, a una mediana de edad de 60 meses (RIQ 47-95), con una duración similar entre los pacientes que fueron tonsilectomizados y los que no. CONCLUSIONES: Se presenta una cohorte amplia de niños con síndrome de PFAPA en la que se confirma que, en nuestro medio, los niños con este síndrome presentan unas características clínicas y analíticas similares a las descritas en la literatura, con buena respuesta a corticoterapia y elevada resolución de la clínica tras la amigdalectomía


INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47.5 months (IQR 37-60), respectively. There were increases in leukocytes (13,580/μL [IQR 8,200-16,600] vs.8,300/μL [IQR 7,130-9,650], P=.005), neutrophils (9,340/μL [IQR 5,900-11,620] vs.3,660/μL [IQR 2,950-4,580], P=.002) and C-reactive protein (11.0mg/dL [IQR 6.6-12.7] vs.0.2mg/dL [IQR 0.1-0.6], P=.003) during febrile episodes. In all, 80.8% of patients reported remission of symptoms within 24h after oral corticosteroid therapy. Fourteen patients were tonsillectomized. In 11, the febrile episodes stopped while, in 3, the frequency was reduced; there were 2 cases of postoperative bleeding. The disease was resolved in 56.3% of the patients, at a median age of 60 months (IQR 47-95), with similar duration in patients who were tonsillectomized and those who were not. CONCLUSIONS: We present a large cohort of children with PFAPA syndrome, with clinical and analytical features similar to those described in the literature, and a good response to corticosteroids and a high resolution rate of symptoms after tonsillectomy


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Febre/diagnóstico , Febre/epidemiologia , Linfadenite/diagnóstico , Linfadenite/epidemiologia , Faringite/diagnóstico , Faringite/epidemiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/epidemiologia , Estudos de Coortes , Progressão da Doença , Estudos Retrospectivos , Espanha/epidemiologia , Síndrome , Saúde da População Urbana
12.
J Med Microbiol ; 68(12): 1759-1765, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31724936

RESUMO

Corynebacterium pseudotuberculosis is the causative agent of caseous lymphadenitis (CLA), a chronic disease of sheep and goats. Current methods for CLA diagnosis cannot identify all infected animals; therefore, the development of an improved diagnosis is essential. We evaluated recombinant phospholipase D (rPLD) protein individually or combined with rCP01850 or rCP09720 proteins for the detection of CLA in sheep. A total of 40 positive and 25 negative sera samples were analysed by ELISA using the recombinant proteins. ELISA using rPLD (E1), rPLD+rCP01850 (E2) and rPLD+rCP09720 (E3) showed 90, 92.5 and 97.5 % sensitivity and 92, 72 and 92 % specificity, respectively. The area under the receiver operating characteristic curves for E1, E2 and E3 was 0.925, 0.882 and 0.990, respectively. ELISA using rPLD +rCP09720 demonstrated the best sensitivity and specificity. Thus, the combination of these recombinant proteins in indirect ELISA has the potential for the diagnosis of CLA in sheep.


Assuntos
Ensaio de Imunoadsorção Enzimática/métodos , Linfadenite/veterinária , Fosfolipase D/imunologia , Proteínas Recombinantes/imunologia , Doenças dos Ovinos/diagnóstico , Animais , Corynebacterium pseudotuberculosis/genética , Linfadenite/diagnóstico , Ovinos
13.
J Korean Med Sci ; 34(46): e302, 2019 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-31779059

RESUMO

BACKGROUND: Nontuberculous mycobacteria (NTM) lymphadenitis is an under-recognized entity, and data of the true burden in children are limited. Without a high index of suspicion, diagnosis may be delayed and microbiological detection is challenging. Here, we report a cluster of NTM lymphadenitis experienced in Korean children. METHODS: Subjects under 19 years of age diagnosed with NTM lymphadenitis during November 2016-April 2017 and April 2018 were included. Electronic medical records were reviewed for clinical, laboratory and pathological findings. Information regarding underlying health conditions and environmental exposure factors was obtained through interview and questionnaires. RESULTS: A total of ten subjects were diagnosed during 18 months. All subjects were 8-15 years of age, previously healthy, male and had unilateral, nontender, cervicofacial lymphadenitis for more than 3 weeks with no significant systemic symptoms and no response to empirical antibiotics. Lymph nodes involved were submandibular (n = 8), preauricular (n = 6) and submental (n = 1). Five patients had two infected nodes and violaceous discoloration was seen in seven subjects. Biopsy specimens revealed chronic granulomatous inflammation and acid-fast bacteria culture identified Mycobacterium haemophilum in two cases and NTM polymerase chain reaction was positive in two cases. Survey revealed various common exposure sources. CONCLUSION: NTM lymphadenitis is rare but increasing in detection and it may occur in children and adolescents. Diagnosis requires high index of suspicion and communication between clinicians and the laboratory is essential for identification of NTM.


Assuntos
Linfadenite/diagnóstico , Infecções por Mycobacterium não Tuberculosas/patologia , Adolescente , Antibacterianos/uso terapêutico , Criança , Humanos , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Infecções por Mycobacterium não Tuberculosas/complicações , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Mycobacterium haemophilum/genética , Mycobacterium haemophilum/isolamento & purificação , Micobactérias não Tuberculosas/genética , Micobactérias não Tuberculosas/isolamento & purificação , RNA Bacteriano/metabolismo
15.
Clin Exp Rheumatol ; 37 Suppl 121(6): 116-118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31603071

RESUMO

OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a multifactorial autoinflammatory disease (AID), which mainly affects children. There have been hardly any cases reported concerning the Chinese population. We aimed to describe the first cohort of adult PFAPA patients in China. METHODS: We evaluated all the adult patients suffering from PFAPA syndrome diagnosed in our centre from April 2015 through March 2018. The patients were diagnosed clinically, and whole exome sequencing was performed in each patient to rule out mono-genic AIDs. RESULTS: During the study period, a total of 9 adult patients (8 men, 1 woman) with PFAPA syndrome were diagnosed. They all had disease onset in adulthood, and the mean age at onset was 25.2±9.5 years. The mean duration of attacks was 4.1±1.0 days, and the mean interval between attacks was 6.2±2.7 weeks. Apart from periodic fever, which was present in all patients, pharyngitis, cervical adenitis and aphthous stomatitis were present in 89%, 67% and 44% patients, respectively. Other common symptoms included fatigue (100%), headache (56%), and myalgia (55%). Inflammatory markers, except ferritin, increased during attacks and returned to normal afterwards. Glucocorticoids given at onset of attacks were effective, while colchicine and tonsillectomy were of no effect. CONCLUSIONS: Our study is the first to suggest the presence of PFAPA syndrome in the Chinese adult population. Clinicians should take into account PFAPA syndrome when diagnosing patients suffering from recurrent fevers of unknown origin, especially those with pharyngitis, cervical adenopathy and aphthous stomatitis.


Assuntos
Linfadenite , Faringite , Estomatite Aftosa , Adulto , Idade de Início , China , Feminino , Febre , Humanos , Linfadenite/diagnóstico , Masculino , Faringite/diagnóstico , Estomatite Aftosa/diagnóstico
16.
Lakartidningen ; 1162019 Oct 29.
Artigo em Sueco | MEDLINE | ID: mdl-31661147

RESUMO

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is the most common autoinflammatory disorder among children in many parts of the world and an important differential diagnosis in children presenting with recurrent fever episodes. Commonly, PFAPA has an onset under the age of 5 years. Fever episodes in PFAPA usually last 3-6 days and are associated with one or more of the cardinal symptoms aphthous stomatitis, pharyngitis and cervical adenitis. The fever episodes typically recur with an interval of 3-6 weeks, often with a striking regularity. During the episodes, the patient has elevated inflammatory variables such as CRP and serum amyloid A (SAA) and may sometimes have additional symptoms such as abdominal pain, nausea and leg pain. Between the fever episodes, the patient is typically free of symptoms with normalized inflammatory variables and grows normally. Awareness and recognition of PFAPA is key to providing the patient with adequate treatment and avoiding misdiagnosis.


Assuntos
Doenças Hereditárias Autoinflamatórias/diagnóstico , Biomarcadores/sangue , Pré-Escolar , Diagnóstico Diferencial , Feminino , Febre/diagnóstico , Febre/tratamento farmacológico , Febre/etiologia , Doenças Hereditárias Autoinflamatórias/classificação , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Humanos , Inflamação/sangue , Linfadenite/diagnóstico , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/etiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/etiologia , Síndrome
19.
Am J Trop Med Hyg ; 101(5): 1066-1069, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31549614

RESUMO

Disseminated nontuberculous mycobacterial (NTM) infections usually occur in severely immunosuppressed patients. These infections may also occur in previously immunocompetent patients with acquired anti-interferon-gamma antibodies (anti-IFN-γ Abs). A previously healthy 33-year-old man presented with a 3-week history of cough and fever. Chest computed tomography showed air-space consolidation in the middle lobe of the right lung and enlargement of the supraclavicular, mediastinal, and hilar lymph nodes. Tissue samples obtained via mediastinoscopy showed granuloma formation with acid-fast bacteria; cultures from the tissue revealed Mycobacterium kansasii. Accordingly, a diagnosis of disseminated M. kansasii disease was made. The positive control tested negative in the QuantiFERON-TB Gold In-tube test, suggesting the presence of anti-IFN-γ Abs. The ELISA test for anti-IFN-γ Abs demonstrated an increased titer. Antimycobacterial drug treatments were initiated after diagnosis. His symptoms improved over 2 months, and he remains well on outpatient management. Disseminated M. kansasii disease is a very rare condition suggestive of immunosuppression. Testing for anti-IFN-γ antibodies might be important in all cases of disseminated M. kansasii disease.


Assuntos
Autoanticorpos/imunologia , Hospedeiro Imunocomprometido , Interferon gama/imunologia , Linfadenite/microbiologia , Infecções por Mycobacterium não Tuberculosas/microbiologia , Mycobacterium kansasii/isolamento & purificação , Adulto , Humanos , Linfadenite/patologia , Masculino , Infecções por Mycobacterium não Tuberculosas/diagnóstico
20.
Mol Cell Probes ; 48: 101459, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31550519

RESUMO

BACKGROUND: Tubercular lymphadenitis (TBLA) is one of the most common extrapulmonary manifestations of tuberculosis in patients with HIV. With several other pathological conditions presenting as lymphadenitis and lack of consensus regarding a gold standard test, the diagnosis of TBLA remains a challenge for the clinician. OBJECTIVES: and design: In this study, we have assessed the potential of loop-mediated isothermal amplification (LAMP) test for the diagnosis of TBLA in HIV-infected patients. The study group included samples collected by fine needle aspiration (FNAC) of lymph nodes from 24 HIV-infected patients with TBLA. A composite reference standard was used to identify cases of TBLA based on clinical suspicion, results of cytology, AFB smear, MGIT culture, GeneXpert MTB/RIF, multiplex polymerase chain reaction (MPCR) and subsequently clinical response to antitubercular therapy. These tests were also carried out in 26 control samples of lymph node FNAC from HIV-infected patients with non-tubercular lymphadenitis. RESULTS: LAMP assay was positive in 19/24 TBLA cases and yielded a sensitivity of 79.17% with 100% specificity. Cytology was suggestive in 18/24 (75%) TBLA cases. GeneXpert MTB/RIF assay correctly identified 16/24 TBLA cases, but the test did show one false positive result reducing its specificity. MPCR had the highest sensitivity of 91.67% as it correctly identified 22/24 cases and showed no false positive result. CONCLUSION: The current study highlights the potential of LAMP test for the specific diagnosis of tubercular lymphadenitis in FNAC samples from HIV-infected patients, especially when cytology is either non-conclusive or non-available. Though MPCR had a higher sensitivity than LAMP assay, the added advantages of low cost, minimal technical expertise and simplicity of procedure make LAMP assay a suitable diagnostic test in resource-limited settings.


Assuntos
Infecções por HIV/microbiologia , Linfadenite/diagnóstico , Reação em Cadeia da Polimerase Multiplex/métodos , Mycobacterium tuberculosis/genética , Tuberculose/diagnóstico , Adulto , Técnicas Bacteriológicas/métodos , Bioensaio/métodos , Biópsia por Agulha Fina/métodos , Feminino , Humanos , Índia , Linfadenite/microbiologia , Masculino , Sensibilidade e Especificidade , Tuberculose/microbiologia
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