Autoinflammatory diseases: a Latin American multicenter study according to age and sex / Doenças autoinflamatórias: um estudo multicêntrico latino-americano de acordo com o sexo e a idade

ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0-15.6 years) and median age at diagnosis 6.9 years (0-21.9 years); 111 (73%) were children (0-9 years old), and 41 (27%) were adolescents and young adults (AYA) (10-21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.

RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0-15,6 anos) e a média de idade de diagnóstico 6,9 anos (0-21,9 anos); 111 (73%) eram crianças (0-9 anos) e 41 (27%) adolescentes/adultos jovens (10-21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença.

Alertamientos y movimientos periódicos de las piernas durante las etapas de sueño y deterioro cognitivo leve en adultos mayores. Estudio preliminar / Arousals and periodic leg movements during sleep stages and mild cognitive impairment in older adults: a preliminary study

RESUMEN La fragmentación del sueño puede asociarse con distintas enfermedades, entre ellas, la demencia. En este sentido, la fragmentación de sueño, indicada por el índice de alertamientos y/o movimientos periódicos de las piernas (MPP), podría ser un marcador temprano de deterioro cognitivo leve (DCL), un síndrome precursor de la demencia. El objetivo del presente estudio fue medir el índice de prevalencia de los alertamientos y de los MPP durante el sueño en un grupo control y un grupo con DCL, así como determinar si hay diferencia entre los grupos en ambos índices y establecer si existe una correlación entre los dos fenómenos. En 9 participantes (3 mujeres controles y 3 mujeres con DCL; y 3 hombres con DCL) (edad: 69.1 ± 5; años de educación: 8 ± 2) se registró una noche de polisomnografía. Se obtuvieron los índices por hora de alertamientos y para cada etapa de sueño, así como los MPP globales y por hora; además se realizaron análisis entre y dentro de cada grupo. Se encontró una correlación positiva y un mayor número de MPP que de alertamientos durante toda la noche en los participantes con DCL. Conocer la prevalencia y asociación de ambos fenómenos contribuye en la formulación de una evaluación más cuidadosa y profunda de los adultos mayores en riesgo de desarrollar DCL y/o demencia.

ABSTRACT Sleep fragmentation may be associated with several diseases, including dementia. In this sense, sleep fragmentation, indicated by the rates of arousals and/or periodic leg movements (PLM), could be an early marker of Mild Cognitive Impairment (MCI), a syndromic stage prior to dementia. Therefore, the objective of this study was to compare the index of PLM with that of arousals and correlate both indexes in people with MCI and without MCI during all sleep stages. In 9 participants (3 control women and 3 women with MCI; and 3 men with MCI) (ages: 69.1 ± 5; years of education: 8 ± 2), one night of polysomnography was performed. Hourly rates of arousals and PLM were scored from each sleep stage. Analyses were performed within and between PLM and arousals for each group. Significant differences and a positive correlation were found between the arousal and the PLM rates for the group with MCI during the whole night. Knowledge of the prevalence and the association of both phenomena may contribute to a more careful and thorough evaluation of older adults at risk of developing MCI and/or dementia.

Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study / 中国当代儿科杂志

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.

Research progress in influence of microstructure on performance of triply-periodic minimal surface bone scaffolds / 中国修复重建外科杂志

OBJECTIVE@#To summarize the influence of microstructure on performance of triply-periodic minimal surface (TPMS) bone scaffolds.@*METHODS@#The relevant literature on the microstructure of TPMS bone scaffolds both domestically and internationally in recent years was widely reviewed, and the research progress in the imfluence of microstructure on the performance of bone scaffolds was summarized.@*RESULTS@#The microstructure characteristics of TPMS bone scaffolds, such as pore shape, porosity, pore size, curvature, specific surface area, and tortuosity, exert a profound influence on bone scaffold performance. By finely adjusting the above parameters, it becomes feasible to substantially optimize the structural mechanical characteristics of the scaffold, thereby effectively preempting the occurrence of stress shielding phenomena. Concurrently, the manipulation of these parameters can also optimize the scaffold's biological performance, facilitating cell adhesion, proliferation, and growth, while facilitating the ingrowth and permeation of bone tissue. Ultimately, the ideal bone fusion results will obtain.@*CONCLUSION@#The microstructure significantly and substantially influences the performance of TPMS bone scaffolds. By deeply exploring the characteristics of these microstructure effects on the performance of bone scaffolds, the design of bone scaffolds can be further optimized to better match specific implantation regions.

Application status of generalized periodic discharges in continuous electroencephalography monitoring in hypoxic-ischemic encephalopathy / 中华神经科杂志

In the electroencephalography (EEG) monitoring of patients with hypoxic-ischemic encephalopathy, generalized periodic discharges are often monitored abnormal waveforms. When there are some features of generalized periodic discharges (e.g., frequency≥1.5 Hz or plus), it indicates that the patient is at high risk for seizures or has a poor prognosis. Compared with conventional EEG, the time of continuous EEG monitoring is longer, so the detection rate of these waveforms is higher. At present, scholars at home and abroad have studied these waveforms, but there is controversy about the significance of these waveforms. In this paper, the definition and characteristics of these waveforms and their significance in determining prognosis and guiding treatment in patients with hypoxic-ischemic encephalopathy are reviewed.

Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis / 中山大学学报(医学科学版)

ObjectiveTo investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis. MethodsThe proband's medical history， clinical manifestations， laboratory examinations and imaging characteristics were retrospectively analyzed， and prevalence situation of family members was investigated in detail. Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis， and the relevant literatures were summarized. ResultsThe proband was definitely diagnosed as familial hypokalemic periodic paralysis. There was a heterozygous mutation in the SCN4A gene of the proband， which was c.2006G>A， resulting in amino acid changes R669H.The proband's grandfather， father and uncle shared the same variation. ConclusionsFamilial hypokalemic periodic paralysis with paroxysmal acidosis is rare， which is easily misdiagnosed as renal tubular acidosis. c 2006G>A mutation in SCN4A gene is the molecular basis of the disease in this family. The clinical phenotypes of different gene mutations are different， and gene screening is helpful for diagnosis and treatment.

ATYPICAL MANIFESTATIONS OF SUBACUTE SCLEROSING PANENCEPHALITIS: CASE SERIES

Subacute Sclerosing Panencephalitis (SSPE) is a rare, progressive degenerative disease of the brain caused by reactivation of aberrant measles virus. Classical symptoms of SSPE are described as behavioral changes, declining scholastic performance, myoclonic jerks etc. However, at times it presents with varied atypical manifestations, which makes diagnosis dif?cult. Hereby we report two patients with unusual manifestations of SSPE. In ?rst case, 14-year-old boy presented with recurrent falls of 9 months duration. Initially, it was 1-2 times per week, progressing over 9 months to frequency of 40-50 falls per day. In second case, 21-year-old gentleman presented with behavioral changes and memory disturbance of 1-year duration. However, his family members noticed worsening of symptoms 1 month before presentation as he started developing involuntary jerky movements involving the right upper and lower limb. In both of them electroencephalogram (EEG) was showing long interval periodic discharges and cerebrospinal ?uid was showing elevated titers of anti-measles antibody overall suggesting SSPE. Hence it needs much attention for atypical presentations and also considering SSPE in differential diagnosis of unsolved atypical neurological presentations.

Early to recognize and Early to recover: A case series on Thyrotoxic periodic paralysis

Thyrotoxic periodic paralysis (TPP) is a rare disease of muscle, presenting with sudden onset weakness of muscles with or without features of hyperthyroidism. The disease most commonly occurs in the Asian population representing about 1.9% of thyrotoxic patients. It involves a predominantly male population with no family history, with or without hypokalemia. Pathophysiology is still not clearly understood. We are describing, a case series of two different patients of TPP presented to our emergency department (ED). One patient presented with classical episodic weakness of both lower limbs specifically during the night times with spontaneous reversal of weakness early in the morning. Another patient presented with complete weakness of both lower limbs for the past 1 day. Both of them had a history of weight loss and intermittent palpitations. They were promptly diagnosed in the ED and successfully treated. We recommend evaluating thyroid function status in the emergency room with the aforementioned clinical features, as early recognition and correction of thyrotoxic state are the definitive treatment helping in a complete reversal of weakness. Potassium supplements, beta-blockers, and antithyroid medications are used in treating acute attacks and preventing recurrence

Parálisis periódica tirotóxica hipopotasémica. Presentación de un caso

RESUMEN La parálisis periódica tirotóxica hipopotasémica es una entidad poco frecuente, con mayor prevalencia en el género masculino, y en la población asiática; caracterizada por debilidad muscular, asociada a hipopotasemia, y como una complicación del hipertiroidismo, generalmente secundario a enfermedad de Graves. El tratamiento se basa en la reposición del déficit de potasio, vigilancia cardiovascular, y manejo de la enfermedad de base, con restauración del eutiroidismo. Se presenta un paciente de 38 años de edad, con varios antecedentes patológicos personales, quien acudió por asistencia médica a causa de un cuadro clínico de 48 horas de evolución de tetraparesia, sin otra sintomatología.

ABSTRACT Hypokalemic thyrotoxic periodic paralysis is a rare entity, with a higher prevalence in males, and in the Asian population; characterized by muscle weakness, associated with hypokalaemia, and as a complication of hyperthyroidism, usually secondary to Graves' disease. Treatment is based on replacement of the potassium deficit, cardiovascular monitoring, and management of the underlying disease, with restoration of euthyroidism. A 38-years-old patient is presented, with several personal pathological antecedents, who came for medical assistance due to a 48-hour clinical picture of tetraparesis, with no other symptoms.

Periodic limb movements during sleep vs seizures and epileptiform discharges: some supposedly shared pathomechanisms / Movimentos periódicos dos membros durante o sono vs crises e descargas epileptiformes: alguns patomecanismos supostamente compartilhados

This is a narrative review that assesses some possible underlying abnormal mechanisms shared between periodic limb movements during sleep (PLMS) and interictal epileptiform discharges (IEDs) or epileptic seizures. The underlying abnormal mechanisms of PLMS are not clearly defined, but the hypotheses raised include a pure motor mechanism originating in the brainstem, spinal cord or a cortico-subcortical interaction, influenced by predisposing factors, through neural networks. PLMS rhythmicity appears to be closely linked to sleep microarchitecture, and also to cortical arousals, as with some types of epilepsy, which involve both the underlying sleep rhythms and their intrinsic functions as well as the so-called central pattern generators that produce rhythmic motor patterns. However, the relationship between PLMS and epilepsy has not yet been fully clarified. Rhythmicity and sleep fragmentation appear to be common denominators between them, at least more closely in sleep-related hypermotor epilepsy. To some extent, the electroencephalographic changes of PLMS would express an epiphenomenon of the involvement of some underlying brain networks common to epileptic seizures and IEDs.

Esta é uma revisão narrativa que avalia alguns possíveis mecanismos anormais subjacentes compartilhados entre os movimentos periódicos dos membros durante o sono (MPMS) e as descargas epileptiformes interictais (DEIs) ou crises epilépticas. Os mecanismos anormais subjacentes dos MPMS não estão claramente definidos, mas as hipóteses levantadas incluem mecanismo motor puro originado no tronco cerebral, medula espinhal ou uma interação córtico-subcortical, por influência de fatores predisponentes, através das redes neurais. A ritmicidade dos MPMS aparece estar intimamente ligada à microarquitetura do sono, e também aos despertares corticais, como acontece com alguns tipos de epilepsia, o que envolve tanto os ritmos subjacentes do sono e suas funções intrínsecas quanto os chamados geradores de padrões centrais que produzem padrões motores rítmicos. No entanto, a relação entre PLMS e epilepsia ainda não foi totalmente esclarecida. Ritmicidade e fragmentação do sono parecem ser denominadores comuns entre eles, pelo menos mais intimamente na epilepsia hipermotora relacionada ao sono. Em certa medida, as alterações eletroencefalográficas de PLMS expressariam um epifenômeno do envolvimento de algumas redes cerebrais subjacentes comuns a crises epilépticas e IEDs.

Estratégia de linkagem e vulnerabilidades nas barreiras ao tratamento de HIV/Aids para homens que fazem sexo com homens / Linkage strategy and vulnerabilities in the barriers to HIV/AIDS treatment for men who have sex with men

Resumo Este estudo tem por objetivo analisar a vinculação ao tratamento de HIV/Aids de Homens que fazem Sexo com Homens (HSH) no Projeto A Hora é Agora, na cidade de Curitiba, Paraná. O conceito de vulnerabilidade com seus três eixos: individual, social e programático foi considerado o marco teórico. Realizou-se levantamento das barreiras enfrentadas pelos sujeitos da testagem até o início do tratamento, por meio de registro da linkagem e atas das reuniões de supervisão. Os dados revelaram que, no plano individual, os HSH tiveram dificuldade em aceitar o diagnóstico de HIV, além de problemas psicológicos que podem ter acarretado na demora de início do tratamento. No eixo social, o estigma/discriminação foi identificado no atendimento nas Unidades Básicas de Saúde e na família, protelando a revelação da sorologia. Por fim, no eixo programático, os HSH encontraram entraves no acesso aos serviços de saúde em função: dos pedidos para repetirem o teste de HIV; mudança de médico pelo mau atendimento; e obstáculos na realização de outros exames, refletindo negativamente no cuidado da saúde. Para a superação dessas barreiras recomenda-se uma atuação não apenas macroestrutural frente a esse grupo, mas um investimento na micropolítica, possibilitando uma mudança real de atitude, cuidado contínuo e postura frente a abordagem do cuidador e a defesa da vida.

Abstract This study aims to analyze the linkage to HIV/AIDS treatment among Men who have Sex with Men (MSM) of the project "A Hora é Agora" in Curitiba, Paraná, Brazil. The concept of vulnerability with its three axes, namely, the individual, social, and programmatic, was the theoretical framework. The barriers from testing up to the onset of the treatment were mapped through linkage registration and minutes from supervisory meetings. In the individual axis, the data revealed that the MSM struggled to address the HIV diagnosis, besides psychological problems that could cause the delay in starting treatment. Considering the social axis, stigma/discrimination was identified in the service at the Basic Health Care Network and within the families, delaying the disclosure of serology. Lastly, in the programmatic axis, the MSM found barriers in accessing the health services due to requests to repeat the HIV test, changing doctors due to poor service, and difficulties in conducting further tests, which adversely reflected on health care. In order to overcome these barriers, it is recommended not only a macro-structural work within this group, but also an investment in the micropolitics, which will enable a real change of attitude, continued care, and a stance related to approaches of care and the defense of life.

Health management and growth development of type 1 diabetes mellitus children / 公共卫生与预防医学

Objective To investigate the growth, development and health management of children with type 1 diabetes, and to provide guidance for the treatment of children with type 1 diabetes. Methods From June 2018 to June 2021, 86 children with type 1 diabetes diagnosed and treated in the Department of Endocrinology of our hospital from January 2000 to December 2002 were selected, including 41 males and 45 females, the onset age of 6-9 years old, all of whom were followed up by telephone. Height, weight, age of onset of youth, age of menarche, blood glucose control and complications were recorded and analyzed from onset to adulthood. Results The initial height of children were lower than those of children of the same age (P0.05).The median age of initiation of puberty in boys was (12.10±1.50) years later than that in the general population (P 8.0%. There were 1 (1.16%) cases of retinopathy and 4 (4.65%) cases of microalbuminuria. 84 cases (97.67%) were monitored for blood glucose or urine glucose, and only 2 cases were not monitored. Conclusion Due to poor self-control and growth, the blood glucose control of children with type 1 diabetes is often not ideal. Although complications are rare, most blood glucose control is not ideal and blood glucose detection is not enough. Therefore, It is necessary to strengthen the publicity and education of diabetes and regularly monitor blood glucose.

Effect of all-trans retinoic acid on maturation and differentiation of mouse hepatic progenitor cells induced by bone morphogenetic protein 9 and its mechanism / 解剖学报

Objective To investigate the effect of 1 μmol/L and 10 μmol/L all trans retinoic acid（ATRA） on bone morphogenetic protein 9（BMP9）-induced maturation and differentiation of hepatic progenitor cells. Methods BMP9, BMP9 + 1 μmol/L ATRA and BMP9 + 10 μmol/L ATRA acted on HP14-19, respectively. The expression of albumin-drive gussid（LAB-Glus） was detected by luciferase reporter gene. The mRNA levels of ALB, cytokeratin 18（CK18）, tyrosine aminotransferase（TAT）, apolipoprotein B（ApoB） were detected by Real-time PCR. The expressions of ALB and uridine diphosphate glucuronosyltransferase 1 A（UGT1 A） were detected by immunofluorescence. Periodic acid-schiff（PAS） staining and indocyanine green（ICG） uptake assay were used to detect the metabolism and glycogen synthesis of hepatocytes. Real-time PCR and Western blotting were used to detect the expression of retinoic acid receptor（RAR）α, RARβ、RARγ and BMP9 signal related molecules Samd1, Samd 5 and Samd 8. Ad-siRARα、Ad-siRARβ、Ad-siRARγ infected cells were treated with BMP9+10 μmol/L ATRA, the cell morphology and PAS staining result were observed, the mRNA levels of ALB, CK18, TAT and ApoB were detected by Real-time PCR. Results BMP9 could significantly induce the maturation and differentiation of HP14-19 cells. The morphology of HP14-19 cells looked like polygonal paving stone. The expressions of ALB, CK18, ApoB and UGT1 A were significantly up-regulated. Some cells had the function of metabolic detoxification and glycogen synthesis. Compared with the BMP9 group, BMP9+1 μmol/L ATRA group had more mature morphology and larger volume. The expressions of Alb, CK18, ApoB and UGT1 A were up-regulated significantly（P＜0.05）. The number of ICG and PAS positive cells increased. Compared with the BMP9+1 μmol/L ATRA group, BMP9 + 10 μmol/L ATRA group showed long spindle, spindle and polygonal shapes, and the expression of hepatocyte related markers decreased, and the number of ICG and PAS positive cells decreased. ATRA（1 μmol/L） significantly increased the expression of RARα, RARβ and RARγ. Compared with the 1 μmol/L ATRA group, 10 μmol/L ATRA group only increased the expression of RARα. BMP9 did not affect the expression levels of Samd1, Samd5 and Samd8, but up-regulated their phosphorylation. Ad-siRARα could improve cell morphology and PAS staining induced by 10 μmol/L ATRA, while increased the expression of Alb and CK18（P＜0.05）. Conclusion ATRA（1 μmol/L） can promote the maturation and differentiation of hepatic progenitor cells（HPCs） induced by BMP9, while 10 μmol/L ATRA can weaken the differentiation of hepatic progenitor cells. Excessive ATRA may over activate RARα signal to affect the differentiation of hepatic progenitor cells.

Clinical features in 8 patients of sporadic Creutzfeldt-Jakob disease with positive real-time quaking-induced conversion / 中华神经科杂志

Objective:To report 8 patients of sporadic Creutzfeldt-Jakob disease (sCJD) with real-time quaking-induced conversion (RT-QuIC) positive and analyze their clinical characteristics.Methods:The medical records of patients discharged from Henan Provincial People′s Hospital from January 2018 to May 2021 who were diagnosed with clinically probable sCJD and had RT-QuIC test were retrospectively analyzed. General information (gender, age, initial symptom, main clinical manifestations), accessory examination [brain magnetic resonance imaging (MRI), electroencephalogram, cerebrospinal fluid 14-3-3 protein, prion protein gene, antibodies related to autoimmune encephalitis and paraneoplastic syndrome] were collected. By a telephone-based follow-up survey, data about morality and total duration of course were collected. The patients were divided into two groups according to electroencephalogram, 14-3-3 protein, duration of disease and MRI results, and the differences of fluorescence peak time and fluorescence peak value in RT-QuIC results between groups were compared.Results:Among 8 patients, 7 patients had subacute onset and 1 patient had chronic onset. Main clinical manifestations included progressive cognitive decline (8/8), pyramid sign (5/8), walking instability (4/8), mental and behavior disorder (4/8), myoclonus (4/8), akinetic mutism (4/8), dizziness (3/8), limb shaking (2/8), dysarthria (2/8), visual hallucination (1/8), impaired vision (1/8). All cases had abnormal electroencephalogram and typical periodic sharp slow compound waves (PSWCs) were observed in 5 cases. Brain MRI showed high signal intensity in the cerebral cortex and/or basal ganglia on diffusion-weighted imaging in 7 cases, of which 6 cases involved bilateral basal ganglia. Cerebrospinal fluid 14-3-3 protein was positive in 2 cases, and RT-QuIC was positive in all cases. The fluorescence peak time of RT-QuIC was shorter in patients with PSWCs [(7.617±2.164) h vs (10.602±2.247) h, t=2.84, P=0.010] and high total MRI score [ (7.600±1.907) h vs (9.760±2.457) h, t=2.26, P=0.032]. Conclusions:RT-QuIC detection is a reliable method for early diagnosis of sCJD. RT-QuIC results were related to PSWCs and degree of MRI involvement.

Construction of multi-epitope gene of periodic Brugia malayi and its expression in eukaryotic cells / 中华地方病学杂志

Objective:To construct a eukaryotic expression plasmid pcDNA3.1(+)-BmCPI502/BmGAPDH720 of periodic Brugia malayi cysteine protease inhibitor/glyceraldehyde 3-phosphate dehydrogenase (CPI502/GAPDH720) multi-epitope gene and observe its protein expression in Hela cells. Methods:Primers were designed according to the predicted gene sequences of T cell epitopes. The target gene fragment was amplified by reverse transcription (RT)-PCR using plasmid pGEM-T-CPI621 as template. The fragment was cloned into prokaryotic expression plasmid pET-28a(+) to construct prokaryotic expression plasmid pET28a(+)-BmCPI502. The BmCPI502 gene and BmGAPDH720 gene were amplified by RT-PCR, respectively. The gene fragments of pcDNA3.1(+), BmCPI502 and BmGAPDH720 were digested by double enzyme digestion and ligated with the target gene. The eukaryotic expression plasmid pcDNA3.1(+)-BmCPI502/BmGAPDH720 was constructed. The recombinant plasmid was transfected into Hela cells and verified by RT-PCR to obtain the desired target bands. The expression product was detected by sodium dodecyl sulfate polyacrylamide gelelectrophoresis (SDS-PAGE).Results:The recombinant plasmid pET28a(+)-BmCPI502 was obtained, and the 502 bp specific fragment was identified by enzyme digestion, which was in line with the expected value; the eukaryotic expression plasmid pcDNA3.1(+)-BmCPI502/BmGAPDH720 of the multi-epitope gene was successfully constructed, and the fragment size was in line with the expected value. The eukaryotic expression plasmid pcDNA3.1(+)-BmCPI502/BmGAPDH720 was transfected into Hela cells and the recombinant protein was stable expressed. SDS-PAGE analysis showed that the relative molecular weight ( Mr × 10 3) of the recombinant protein was about 50. Conclusions:The eukaryotic expression plasmid of pcDNA3.1(+)-BmCPI502/BmGAPDH720 of periodic Brugia malayi multi-epitope gene is successfully constructed, and the corresponding recombinant protein is obtained in eukaryotic cells. This study has laid a foundation for further study of the purification and biological activity of the recombinant protein.

Revista Brasileira de Cirurgia Plástica: análise de artigos publicados entre 2010-2019 / Brazilian Journal of Plastic Surgery: analysis of articles published between 2010-2019

■ RESUMO Introdução: A Revista Brasileira de Cirurgia Plástica (RBCP) é a publicação oficial da Sociedade Brasileira de Cirurgias Plástica (SBCP) e completará em 2021, 35 anos de existência. Neste período, poucos artigos realizaram uma análise do conteúdo publicado pela revista. O objetivo deste trabalho é realizar uma análise dos artigos publicados na RBCP entre os anos de 2010 a 2019. Métodos: Análise retrospectiva descritiva dos artigos publicados na RBCP entre os anos de 2010 a 2019. Os critérios de inclusão foram artigos presentes nos números analisados, do tipo "Artigo Original", "Artigo de Revisão" e "Relato de Caso", e não ser de edição suplemento. Resultados: No total foram avaliados 1.107 artigos, destes 931 foram incluídos no estudo; 700 "Artigos Originais" (75,2%), 66 "Artigos de Revisão" (7%) e 165 (17,8%) "Relatos de Caso". Dentre os autores, 3.012 (73%) do sexo masculino e 1.108 (27 %) do sexo feminino. 914 artigos foram produzidos no Brasil, destes 577 (63,1%) em serviços credenciados no DESC e 337 (36,9%) em não credenciados. Os principais temas foram estéticos com 379 (40,7%) artigos, seguido por reconstrução de cabeça e pescoço com 115 (12,3%) e ciência básica e experimental com 114 (12,2%) publicações. Conclusão: Os dados apresentados neste artigo permitem uma análise descritiva sobre a RBCP. Há a necessidade de intensificar a publicação de artigos originais, de discutir a busca por equidade de gêneros nas publicações. As instituições formadoras de residentes apresentam papel importante na produção científica nacional e a participação científica durante a formação tem que ser estimulada.

■ ABSTRACT Introduction: The Brazilian Journal of Plastic Surgery (RBCP - Revista Brasileira de Cirurgia Plástica) is the Brazilian Society of Plastic Surgery (SBCP - Sociedade Brasileira de Cirurgia Plástica) official publication and will complete 35 years of existence in 2021. During this period, few articles analyzed the content published by the journal. This work aims to carry out an analysis of articles published in RBCP between 2010 and 2019. Methods: Descriptive retrospective analysis of articles published in RBCP between 2010 and 2019. Inclusion criteria were articles present in the analyzed issues, of the type "Original Article," "Review Article," and "Case Report," and not be a supplement edition. Results: A total of 1,107 articles were evaluated, of which 931 were included in the study; 700 "Original Articles" (75.2%), 66 "Review Articles" (7%) and 165 (17.8%) "Case Reports." 3. 012 (73%) males and 1,108 (27%) females among the authors. Nine hundred fourteen articles were produced in Brazil. Of these, 577 (63.1%) in services accredited by Department of Education and Accredited Services (DESC - Departamento de Ensino e Serviços Credenciados) and 337 (36.9%) in non-accredited services. The main themes were aesthetics with 379 (40.7%) articles, followed by head and neck reconstruction with 115 (12.3%) and basic and experimental science with 114 (12.2%) publications. Conclusion: The data presented in this article allow a descriptive analysis of the RBCP. There is a need to intensify the publication of original articles and to discuss the search for gender equality in publications. Institutions that train residents to play an important role in national scientific production and scientific participation during training must be encouraged.

O estado da arte das síndromes autoinflamatórias associadas à criopirina / The state of the art of cryopyrin-associated periodic syndromes

As síndromes autoinflamatórias associadas à criopirina (CAPS) compreendem um grupo espectral de doenças raras autoinflamatórias. Todas estas doenças estão relacionadas ao inflamassoma NLRP3, sendo que de 50-60% dos pacientes apresentam mutações ao longo do gene NLRP3. Clinicamente, febre recorrente associada à urticária neutrofílica e outros sintomas sistêmicos são o grande marco clínico, comum a todo o espectro. O bloqueio da interleucina-1 trouxe grande alívio ao tratamento destas desordens, mas variações na resposta clínica podem ser observadas, principalmente nos espectros mais graves. Neste trabalho os autores trazem uma revisão do estado da arte das doenças autoinflamatórias CAPS. Foi realizado levantamento de literatura e, ao final, 49 artigos restaram como base para construção do texto final. O trabalho traz de forma narrativa os principais pontos relacionados a imunofisiopatologia, manifestação clínica, diagnóstico, tratamento, complicações e novas armas diagnósticas, e terapia gênica.

Cryopyrin-associated periodic syndromes (CAPS) comprise a spectrum of rare autoinflammatory disorders. They are all related to the NLRP3 inflammasome, and 50-60% of the patients harbor mutations along the NLRP3 gene. Clinically, recurrent fever associated with neutrophilic urticaria and other systemic symptoms are a hallmark of all the disorders in the spectrum. Biologic drugs that can block interleukin-1 were a milestone for the treatment of such rare diseases, although variability in clinical response to this therapeutic intervention were observed, especially in those affected by severe phenotypes. In this paper, the authors provide a state-of-the-art review of CAPS. A literature search was performed and, finally, 49 articles remained for the construction of the final manuscript. The article presents a narrative review focused on the topics related to immune pathophysiology, clinical manifestations, diagnosis, treatment, complications and new therapeutic options, and gene therapy.

Parkinson's disease and periodic limb movement in sleep / Doença de Parkinson e movimentos periódicos dos membros durante o sono

Parkinson's disease is a neurodegenerative disease understood as a complex syndrome with motor and non-motor symptoms, including sleep-related conditions, such as periodic limb movements in sleep (PLMS). This paper presents issues regarding Parkinson's disease, motor and non-motor symptoms, sleep physiology, and PLMS. In conclusion, both conditions seem to be correlated through impairment of the dopaminergic system.

A doença de Parkinson é uma doença neurodegenerativa entendida como uma síndrome complexa com sintomas motores e não motores, incluindo condições relacionadas ao sono, como movimentos periódicos dos membros durante o sono (MPMS). Este artigo apresenta questões relacionadas à doença de Parkinson, sintomas motores e não motores, fisiologia do sono e MPMS. Em conclusão, ambas as condições parecem estar correlacionadas por comprometimento do sistema dopaminérgico.

Epidemiología de la Onicomicosis Pedis en adultos hospitalizados en un servicio de medicina en un hospital de tercer nivel en Chile / Epidemiology of Onychomycosis pedisinhospitalized adults at the internal medicine ward of a high complexity hospital in Chile

La prevalencia global de la onicomicosis pedis es de 4,3%, y en hospitalizados puede llegar hasta 8,9%. Aun así, se propone que está ampliamente subdiagnosticada. Personas añosas con comorbilidades presentan mayor riesgo de onicomicosis pedis y de sus complicaciones. Se examinaron aleatoriamente a 64 pacientes hospitalizados en el Servicio de Medicina del Hospital San José. A aquellos con signos clínicos de onicomicosis pedis se les realizó un examen micológico directo (MD) y estudio histopatológico de un corte de uña teñido con PAS (Bp/PAS). Muestra de 64 pacientes, un 78,1% presentó onicomicosis pedis clínica y en un 70,3% se confirmó el diagnóstico con MD y/o Bp/PAS positivo. De los pacientes con onicomicosis confirmada, el promedio de edad fue de 67,8 +/- 12,3 años. Un 44% correspondió al sexo femenino y un 56% al sexo masculino. La onicomicosis pedis en el servicio de medicina interna del Hospital San José es una condición frecuente. El conjunto de MD y Bp/PAS podría ser considerado como una buena alternativa diagnóstica. (AU)

Onychomycosis of the toenails has a global prevalence of 4,3% and can reach up to 8,9% in hospitalized patients. It has been hypothesized that it is widely under diagnosed. Aged patients with multiple diseases have an increased risk of Onychomycosis and its complications. 64 patients of the internal medicine ward were randomly selected. Those who had clinical signs of onychomycosis of the toenails were tested with direct microscopy and histological study of the nail plate with PAS staining. Of the 64 patients, 78,1% (50) had clinical signs of onychomycosis of the toenails and in 70,3% (45) the diagnosis was confirmed either by direct microscopy and/or by histological study of the nail plate with PAS staining. The mean age for the group with onychomycosis was 67,8 +/- 12,3 ages. 44% were female and 56% were male. Onychomycosis of the toenails is a frequent condition at the internal medicine ward of the San José Hospital. The direct microscopy together with the histological study of the nail plate with PAS staining seem to be a good diagnosis alternative. (AU)

Síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis / Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Introducción: El síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis es un cuadro relativamente frecuente de curso autolimitado y buen pronóstico. Es la más común de las enfermedades autoinflamatorias que presentan fiebre recurrente y su etiología y fisiopatogenia permanecen inciertas. Objetivo: Describir el caso clínico de un niño que consultó por fiebre recurrente y faringitis y se arribó al diagnóstico de síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis. Presentación del caso: Se trata de un paciente de 5 años que consultó por un episodio febril acompañado de faringitis y adenitis, con antecedente de múltiples episodios previos. Conclusiones: El síndrome fiebre periódica, estomatitis aftosa, faringitis y adenitis, es una entidad de curso benigno y autolimitado que constituye la causa más común de fiebre recurrente con un gran impacto en la vida de los pacientes. La fisiopatogenia permanece incierta. Es destacable la sospecha clínica para arribar al diagnóstico ya que no existen en la actualidad exámenes complementarios específicos(AU)

Introduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a relatively common picture of self-limiting course and good prognosis. It is the most common of self-inflammatory diseases with recurrent fever and its etiology and physiopathology remain uncertain. Objective: Describe the clinical case of a boy who was checked due recurrent fever and pharyngitis and being diagnosed with Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. Case presentation: This is a 5-year-old patient who was consulted due to a febrile episode accompanied by pharyngitis and adenitis, with a history of multiple previous episodes. Conclusions: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a benign, self-limiting course entity that is the most common cause of recurrent fever with a large impact on patients' lives. Its physiopathology remains uncertain. Clinical suspicion for diagnosis is noteworthy as there are currently no specific complementary test for it(AU)