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Abstract We present a patient with a rare systemic autoinflam matory disease (mevalonate kinase deficiency -MKD-) with the identification of two heterozygous variants (c.1129G>A and c.32C>T) in the Mevalonate Kinase gene, detected by next generation sequencing and a highly prevalent glomerulonephritis (IgA nephropathy). The patient presents clinically with a monthly recurrent periodic fever from 12 days of age, accompanied by mucocutaneous lesions (maculopapular rash in ex tremities, aphthous stomatitis), joint (arthralgias in ankles, wrists and knees), lymphoid (cervical lymph adenopathy, splenomegaly), gastrointestinal (diarrhea, abdominal pain) and kidney (hematuria and protei-nuria) with repeated biopsies showing IgA nephropathy alternating activity with chronicity. During follow-up. The patients presented a poor therapeutic response to multiple immunosuppressive regimens used for 7 years (corticosteroids, azathioprine, mycophenolate, cyclo phosphamide, rituximab and tocilizumab), and finally a good response to canakinumab. Four years after starting canakinumab, during the course of an infection due to a muscle abscess, the clinical presentation is complicated by a severe renal microvascular event (renal cortical necrosis -RCN-) with acute kidney injury and dialysis requirement. Therecurrent episodes of inflammation due to MKD could act as triggers for the reactivation of glomerulonephritis (which would explain the poor response to immunosuppressants and the rapid pro gression to histological chronicity) and to generate a microenvironment that predisposes the development of RCN in the face of a non-serious infection. A defect in IgA molecules has been described in MKD, a phenom enon also observed in IgA nephropathy. This raises the challenging hypothesis of a common pathogenetic link between all the patient's clinical manifestations.
Resumen Presentamos un paciente con una rara enfermedad autoinflamatoria sistémica (deficiencia de mevalonato quinasa -DMQ-) con la identificación de dos variantes heterocigotas (c.1129G>A y c.32C>T) en el gen Meval onato Quinasa, detectadas por secuenciación masiva en paralelo y una glomerulonefritis de alta prevalencia (nefropatía por IgA). El paciente presentó un cuadro de fiebre periódica recurrente mensual desde los 12 días de vida, acompañada de lesiones mucocutáneas (rash maculopapular en extremidades, estomatitis aftosa), compromiso articular (artralgias en tobillos, muñecas y rodillas), linfoideo (linfoadenopatía cervical, esplenome galia), gastrointestinal (diarrea, dolor abdominal) y renal (hematuria y proteinuria) con repetidas biospias most rando nefropatía por IgA alternando actividad y cronic idad. Durante el seguimiento, tuvo una pobre respuesta terapéutica a múltiples esquemas inmunosupresores utilizados durante 7 años (corticoides, azatrioprina, micofenolato, ciclofosfamida, rituximab y tocilizumab), y buena respuesta finalmente a canakinumab. Cuatro años posteriores al inicio de canakinumab, durante el curso de una infección por un absceso muscular, el cuadro clínico se complica con un evento microvascular renal grave (necrosis cortical renal -NCR-) con fallo renal agudo y necesidad de diálisis. Los episodios recurrentes de inflamación por la DMQ podrían actuar como gatil los para la reactivación de su glomerulonefritis (lo que explicaría la escasa respuesta a inmunosupresores y la progresión rápida a cronicidad histológica) y para gen erar un microambiente que predisponga el desarrollo de una NCR ante una infección no grave. En la DMQ se ha descripto un defecto en las moléculas de IgA, fenómeno también observado en la nefropatía por IgA. Esto plantea la desafiante hipótesis de un vínculo patogénico común entre todas las manifestaciones clínicas del paciente.
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Laser surgery, a minimally invasive procedure for the definitive approach to pilonidal disease (PD), has been frequently studied in recent years. This study aims to describe a new pilonidotomy method using minimal laser energy and evaluate its initial results. This is a retrospective multicenter study. We included 47 consecutive patients who underwent 50 "minimal energy pilonidotomies (MELPi)" between 2019 and 2023 in four centers in Brazil. Age, BMI, gender, smoking, diabetes, Guner classification, duration of illness, energy, hospitalization time, complications, recurrence, wound closure, pain, and return to activities were analyzed. The median age was 27; 61.7% were men, and 38.3% were women. The median BMI was 25.7. Smoking was evident in 14.9%, and diabetes in 2.1%. The average duration of the disease was 3 years. Most operations (36%) were performed on stage R disease. The median hospitalization time was 6 h, and the median healing time was 15 days. The average energy used in procedures was 433 J. The median postoperative pain was 2. Secretion occurred in 14% on the 60th day. Complications (cellulitis) occurred in 4% of cases. The median time to return to work was 7 days. The average following time was 12 months; recurrence occurred in 5 (10%)-in 3 patients, a second MELPi procedure was performed and was effective. MELPi shows promising initial results: low pain, low complication rates, and a fast activity return. It is a good option in recidivate cases and can be done more than once if necessary.
Assuntos
Terapia a Laser , Seio Pilonidal , Humanos , Seio Pilonidal/cirurgia , Feminino , Masculino , Adulto , Estudos Retrospectivos , Terapia a Laser/métodos , Resultado do Tratamento , Adulto Jovem , Dor Pós-Operatória/etiologia , Recidiva , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Cicatrização , AdolescenteRESUMO
Two new copper dimers, namely, bis-(dimethyl sulfoxide)-tetra-kis-(µ-pyrene-1-carboxyl-ato)dicopper(Cu-Cu), [Cu2(C17H9O2)4(C2H6OS)2] or [Cu2(pyr-COO-)4(DMSO)2] (1), and bis-(di-methyl-formamide)-tetra-kis-(µ-pyrene-1-carboxyl-ato)dicopper(Cu-Cu), [Cu2(C17H9O2)4(C3H7NO)2] or [Cu2(pyr-COO-)4(DMF)2] (2) (pyr = pyrene), were synthesized from the reaction of pyrene-1-carb-oxy-lic acid, copper(II) nitrate and tri-ethyl-amine from solvents DMSO and DMF, respectively. While 1 crystallized in the space group P , the crystal structure of 2 is in space group P21/n. The Cu atoms have octa-hedral geometries, with four oxygen atoms from carboxyl-ate pyrene ligands occupying the equatorial positions, a solvent mol-ecule coordinating at one of the axial positions, and a Cuâ¯Cu contact in the opposite position. The packing in the crystal structures exhibits π-π stacking inter-actions and short contacts through the solvent mol-ecules. The Hirshfeld surfaces and two-dimensional fingerprint plots were generated for both compounds to better understand the inter-molecular inter-actions and the contribution of heteroatoms from the solvent ligands to the crystal packing. In addition, a Cu2+/Cu1+ quasi-reversible redox process was identified for compound 2 using cyclic voltammetry that accounts for a diffusion-controlled electron-donation process to the Cu dimer.
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To evaluate the posttranslational arginylation of proteins in vivo, we describe a protocol for studying the 14C-Arg incorporation into proteins of cells in culture. The conditions determined for this particular modification contemplate both the biochemical requirements of the enzyme ATE1 and the adjustments that allowed the discrimination between posttranslational arginylation of proteins and de novo synthesis. These conditions are applicable for different cell lines or primary cultures, representing an optimal procedure for the identification and the validation of putative ATE1 substrates.
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Aminoaciltransferases , Aminoaciltransferases/genética , Processamento de Proteína Pós-Traducional , Proteínas/metabolismo , Células Cultivadas , Linhagem Celular , Arginina/metabolismoRESUMO
Studies on seed science are developed for a wide range of purposes, being the statistical analysis of data essential for experimental reliability and evidence. Due to the characteristics of seed data, several statistical methods can be applied, among them the survival analysis stands out, in virtue of allocating censored data and describing phenomena over time. Therefore, this bibliometric study verified the use of survival analysis in studies with seed germination and to examine the applications of survival analysis in original articles from the Web of Science database for the period from 2000 to 2020. For the application of survival analysis, there was a low number of publications related to seed science, with the USA being the country with the highest number of publications mainly to studies in plant ecology and physiology. In general, the researches were most involved to the evaluation of factors influencing dormancy, physiological stresses, dispersion capacity, population differences and habitats of development which affected seed germination. Therefore, the qualitative overview demonstrates that the survival analysis is a statistical tool of great potential regarding the studies in the area.
Estudos em ciência de sementes são desenvolvidos frente a uma ampla gama de finalidades, sendo a análise estatística dos dados um componente imprescindível para confiabilidade e comprovação experimental. Devido às características dos dados de sementes, diversos métodos estatísticos podem ser aplicados na sua análise, dentre os quais destaca-se a análise de sobrevivência, em virtude de alocar dados censurados e descrever fenômenos ao longo do tempo. Sendo assim, este estudo bibliométrico teve por objetivo verificar o uso da análise de sobrevivência em estudos com germinação de sementes e examinar as aplicações da análise de sobrevivência em artigos originais da base de dados Web of Science para o período de 2000 a 2020. Observou-se para aplicação da análise de sobrevivência, baixo número de publicações com este método estatístico ao decorrer dos anos, sendo os Estados Unidos (EUA) o país de maior produtividade em publicações, com pesquisas relacionadas principalmente a estudos em ecologia vegetal e fisiologia. Em geral, as pesquisas foram mais voltadas para a avaliação de fatores que influenciam a dormência, estresses fisiológicos, capacidade de dispersão, diferenças populacionais e habitats de desenvolvimento que afetaram a germinação das sementes. Portanto, o panorama qualitativo demonstra que a análise de sobrevivência é uma ferramenta estatística de grande potencial em relação aos estudos na área.
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Sementes , Bibliometria , Germinação , Desenvolvimento VegetalRESUMO
The acid-base reaction of 1,4-benzodioxane 2-carb-oxy-lic acid with calcium carbonate furnished the centrosymmetric title compound, [Ca(C9H7O4)2(H2O)4], in which the metal ion is octa-hedrally coordinated by two monodentate 1,4-benzodioxane 2-carboxyl-ate ligands and four water mol-ecules. In the crystal, O-Hâ¯O and C-Hâ¯O hydrogen bonds link the mol-ecules into a three-dimensional network.
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SUMMARY INTRODUCTION The association between the between IL-10 -1082A>G (rs1800896) polymorphism and breast cancer has been evaluated by several number case-control studies. However, these studies might be underpowered to reveal the true association. OBJECTIVE We have performed a comprehensive meta-analysis to investigate the association IL-10 -1082A>G polymorphism and breast cancer. MATERIALS AND METHODS A systematic literature search was conducted using PubMed, Google Scholar, and Web of Science up to September 20, 2017. Data was analysed with CMA software to identify the strength of the association by pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs). RESULTS A total of 17 case-control studies involving 3275 cases and 3416 controls obtained from database searches were examined. Overall, there was no significant association between IL-10 -1082A>G polymorphism and breast cancer risk under all genetic models. No significant publication bias was found for the five genetic models (G vs. A OR = 1.184, 95% CI = 0.895-1.180, p= 0.230; GG vs. AA: OR = 1.430, 95% CI = 0.927-2.204, p= 0.106; GA vs. AA: OR = 0.966, 95% CI = 0.765-1.221, p= 0.774; GG+GA vs. AA: OR = 0.957, 95% CI = 0.697-1.314, p= 0.786; and GG vs. GA+AA: OR = 1.221, 95% CI = 0.981-1.518, p= 0.073). Moreover, there was no significant association between the IL-10 -1082A>G polymorphism and breast cancer risk by ethnicity. CONCLUSION Our findings indicated that IL-10 -1082A>G (rs1800896) polymorphism might not be a risk factor for the development of breast cancer.
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Assuntos
Humanos , Feminino , Polimorfismo Genético , Neoplasias da Mama/genética , Interleucina-10/genética , Predisposição Genética para Doença , Estudos de Casos e Controles , Intervalos de Confiança , Razão de Chances , Fatores de Risco , Frequência do Gene , GenótipoRESUMO
In the anion of the title salt hydrate, H5N2+·C7H5N2O4-·2H2O, the carboxyl-ate and nitro groups lie out of the plane of the benzene ring to which they are bound [dihedral angles = 18.80â (10) and 8.04â (9)°, respectively], and as these groups are conrotatory, the dihedral angle between them is 26.73â (15)°. An intra-molecular amino-N-Hâ¯O(carboxyl-ate) hydrogen bond is noted. The main feature of the crystal packing is the formation of a supra-molecular chain along the b axis, with a zigzag topology, sustained by charge-assisted water-O-Hâ¯O(carboxyl-ate) hydrogen bonds and comprising alternating twelve-membered {â¯OCOâ¯HOH}2 and eight-membered {â¯Oâ¯HOH}2 synthons. Each ammonium-N-H atom forms a charge-assisted hydrogen bond to a water mol-ecule and, in addition, one of these forms a hydrogen bond with a nitro-O atom. The amine-N-H atoms form hydrogen bonds to carboxyl-ate-O and water-O atoms, and the amine N atom accepts a hydrogen bond from an amino-H atom. The hydrogen bonds lead to a three-dimensional architecture. An analysis of the Hirshfeld surface highlights the major contribution of Oâ¯H/Hâ¯O hydrogen bonding to the overall surface, i.e. 46.8%, compared with Hâ¯H contacts (32.4%).
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Abstract Regulation of protein stability and/or degradation of misfolded and damaged proteins are essential cellular processes. A part of this regulation is mediated by the so-called N-end rule proteolytic pathway, which, in concert with the ubiquitin proteasome system (UPS), drives protein degradation depending on the N-terminal amino acid sequence. One important enzyme involved in this process is arginyl-t-RNA transferase, known as ATE. This enzyme acts post-translationally by introducing an arginine residue at the N-terminus of specific protein targets to signal degradation via the UPS. However, the function of ATEs has only recently begun to be revealed. Nonetheless, the few studies to date investigating ATE activity in plants points to the great importance of the ATE/N-end rule pathway in regulating plant signaling. Plant development, seed germination, leaf morphology and responses to gas signaling in plants are among the processes affected by the ATE/N-end rule pathway. In this review, we present some of the known biological functions of plant ATE proteins, highlighting the need for more in-depth studies on this intriguing pathway.
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In the title compound, C13H13ClO4, the dihedral angle between the chloro-benezene ring and the least-squares plane through the 4-meth-oxy-2-oxobut-3-enoate ethyl ester residue (r.m.s. deviation = 0.0975â Å) is 54.10â (5)°. In the crystal, mol-ecules are connected by meth-oxy-ketone and benzene-carboxyl-ate carbonyl C-Hâ¯O inter-actions, generating a supra-molecular layer in the ac plane.
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O objetivo principal deste estudo seccional foi averiguar a presença de comprometimento auditivo retrococlear num grupo de trabalhadores de manutenção de um hospital de grande porte com histórico de exposição a ruído. Foram avaliados 31 trabalhadores de três setores da divisão de engenharia entre 25 e 60 anos e com exposição contínua a ruído entre 2 e 45 anos. O processo avaliativo contou com triagem audiométrica ocupacional e audiometria troncoencefálica (ATE). Foram detectadas anormalidades na ATE em sete pacientes (22,6 por cento), caracterizadas por aumento de latências de ondas III (14,3 por cento) e V (28,6 por cento); prolongamento dos interpicos I-III (71,4 por cento), III-V (28,6 por cento) e I-V (85,7 por cento). Das 35 orelhas com audição normal (três unilateralmente e 32 bilateralmente), quatro (11,4 por cento) apresentaram comprometimento retrococlear. A alta prevalência de comprometimento retrococlear no grupo induz supor que tal distúrbio seja mais frequente que o encontrado e esteja sendo subestimado na investigação diagnóstica desses trabalhadores. A ocorrência desses resultados sem a presença de alterações audiométricas sugere que a ATE seja mais sensível que a audiometria tonal na investigação de perda auditiva provocada por ruído, por isso sua utilização deva ser incentivada.
The main purpose of this cross-seccional study was to investigate the presence of retrocochlear disease in a group of maintenance workers from a general hospital, who presents a history of noise exposure. Thirty one workers of three engineering sections with age range from 25 to 60 years and continuous noise exposure from 2 and 45 years, were examined. The evaluation included an audiometric occupational selection and auditory brainstem responses (ABR). ABR abnormalities were detected in seven patients (22.6 percent) and it was found latency increase of waves III (14.3 percent) and V (28.6 percent), and interpeak prolongation I-III (71.4 percent), III-V (28.6 percent) and I-V (85.7 percent). Among 35 ears with normal audition right, left or both , four (11,4 percent) ears presented retrocochlear disease. The high retrocochlear disease prevalence in workers exposed to noise lead us to suppose that this disturbance is more frequent than usually found; therefore it is underestimated in workers diagnostic evaluation. The presence of this kind of disturbance, even with the absence of audiometric alterations, suggests that ABR is more sensitive than the tonal audiometry for noise induced hearing loss investigation.
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Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Potenciais Evocados Auditivos do Tronco Encefálico , Ruído Ocupacional/efeitos adversos , Doenças Profissionais/etiologia , Doenças Profissionais/fisiopatologia , Recursos Humanos em Hospital , Doenças Retrococleares/etiologia , Doenças Retrococleares/fisiopatologia , Estudos Transversais , Hospitais Gerais , Exposição OcupacionalRESUMO
La tragedia se ha considerado tradicionalmente como un lugar en el que se despliega una aporía moral. Por otro lado la tragedia ocupa un lugar central en la práctica analítica. Hacia el final de El Seminario 7 La Ética, dictado entre los años 1959 y 1960, Lacan hace una magnífica, y a su vez compleja, lectura de la tragedia de Antígona discutiendo las posturas canónicas acerca de la misma, como la de Aristóteles, Hegel, Goethe, etcétera. La lectura de Lacan ha tenido repercusiones en otras disciplinas por fuera del campo analítico pero el objetivo de Lacan se orienta hacia la elucidación de la problemática de la ética del psicoanálisis. El sentido del presente trabajo es profundizar, de acuerdo a las pautas de lectura que Lacan indica explícitamente, las problemática ética que aborda la tragedia en general y en particular, desde la perspectiva psicoanalítica, tomando como eje la culpa trágica y el concepto griego de Atê en el contexto del pensamiento griego y el lugar central que tiene en la lectura de Antígona hecha por Lacan.
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Humanos , Literatura , PsicanáliseRESUMO
Ectoparasites are organisms which are externally distributed in relation to an animal, usually dwellingon it. When it is concerned to bats, they can be represented by Hippoboscidae, Streblidae and Nycteribiidaefamilies. Temperature may influence upon the ectoparasites time of life pertaining to the Strebidae family. Theseectoparasites are tropical and tend to appear more frequently during the hottest months of the year. Thus, thepresent work had as aims to identify the ectoparasites insects found on Chiroptera, Mammalia from CinturãoVerde Municipal Park, Cianorte municipality, Paraná state, and analyse the frequency of these animals found onbats along the seasons of the year. The study was carried through from October, 2004 to September, 2005. The insects were collected sometimes manually and sometimes with the aid of tweezers. Then they were placedadequately into flasks containing alcohol at 70%, labeled with information about the parasite and the date ofcollection. During the research, 178 ectoparasites were captured, all of them belonging to the Streblidae family.The captured species were the following: Trichobius joblingi Wenzel, 1966, Aspidoptera falcata Wenzel, 1976, Megistopoda proxima Séguy, 1926, Megistopoda aranea(Coquillet, 1899, Paratrichobius longicrus Miranda Ribeiro, 1907 and Metelasmus pseudopterus Coquillet, 1907. T. joblingi was found on Artibeus lituratus an
Ectoparasites are organisms which are externally distributed in relation to an animal, usually dwellingon it. When it is concerned to bats, they can be represented by Hippoboscidae, Streblidae and Nycteribiidaefamilies. Temperature may influence upon the ectoparasites time of life pertaining to the Strebidae family. Theseectoparasites are tropical and tend to appear more frequently during the hottest months of the year. Thus, thepresent work had as aims to identify the ectoparasites insects found on Chiroptera, Mammalia from CinturãoVerde Municipal Park, Cianorte municipality, Paraná state, and analyse the frequency of these animals found onbats along the seasons of the year. The study was carried through from October, 2004 to September, 2005. The insects were collected sometimes manually and sometimes with the aid of tweezers. Then they were placedadequately into flasks containing alcohol at 70%, labeled with information about the parasite and the date ofcollection. During the research, 178 ectoparasites were captured, all of them belonging to the Streblidae family.The captured species were the following: Trichobius joblingi Wenzel, 1966, Aspidoptera falcata Wenzel, 1976, Megistopoda proxima Séguy, 1926, Megistopoda aranea(Coquillet, 1899, Paratrichobius longicrus Miranda Ribeiro, 1907 and Metelasmus pseudopterus Coquillet, 1907. T. joblingi was found on Artibeus lituratus an
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Ectoparasites are organisms which are externally distributed in relation to an animal, usually dwellingon it. When it is concerned to bats, they can be represented by Hippoboscidae, Streblidae and Nycteribiidaefamilies. Temperature may influence upon the ectoparasites time of life pertaining to the Strebidae family. Theseectoparasites are tropical and tend to appear more frequently during the hottest months of the year. Thus, thepresent work had as aims to identify the ectoparasites insects found on Chiroptera, Mammalia from CinturãoVerde Municipal Park, Cianorte municipality, Paraná state, and analyse the frequency of these animals found onbats along the seasons of the year. The study was carried through from October, 2004 to September, 2005. The insects were collected sometimes manually and sometimes with the aid of tweezers. Then they were placedadequately into flasks containing alcohol at 70%, labeled with information about the parasite and the date ofcollection. During the research, 178 ectoparasites were captured, all of them belonging to the Streblidae family.The captured species were the following: Trichobius joblingi Wenzel, 1966, Aspidoptera falcata Wenzel, 1976, Megistopoda proxima Séguy, 1926, Megistopoda aranea(Coquillet, 1899, Paratrichobius longicrus Miranda Ribeiro, 1907 and Metelasmus pseudopterus Coquillet, 1907. T. joblingi was found on Artibeus lituratus an
Ectoparasites are organisms which are externally distributed in relation to an animal, usually dwellingon it. When it is concerned to bats, they can be represented by Hippoboscidae, Streblidae and Nycteribiidaefamilies. Temperature may influence upon the ectoparasites time of life pertaining to the Strebidae family. Theseectoparasites are tropical and tend to appear more frequently during the hottest months of the year. Thus, thepresent work had as aims to identify the ectoparasites insects found on Chiroptera, Mammalia from CinturãoVerde Municipal Park, Cianorte municipality, Paraná state, and analyse the frequency of these animals found onbats along the seasons of the year. The study was carried through from October, 2004 to September, 2005. The insects were collected sometimes manually and sometimes with the aid of tweezers. Then they were placedadequately into flasks containing alcohol at 70%, labeled with information about the parasite and the date ofcollection. During the research, 178 ectoparasites were captured, all of them belonging to the Streblidae family.The captured species were the following: Trichobius joblingi Wenzel, 1966, Aspidoptera falcata Wenzel, 1976, Megistopoda proxima Séguy, 1926, Megistopoda aranea(Coquillet, 1899, Paratrichobius longicrus Miranda Ribeiro, 1907 and Metelasmus pseudopterus Coquillet, 1907. T. joblingi was found on Artibeus lituratus an