Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.

Introduction: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data. Objective: To describe bone characteristics in a large CGL1 and 2 case series. Methods: Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry). Results: Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients. Conclusion: Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.

Enoxaparin for Long-Term Therapy of Venous Thromboembolism in Patients with Cancer and Renal Insufficiency.

BACKGROUND: The optimal therapy of venous thromboembolism (VTE) in cancer patients with renal insufficiency (RI) is unknown. Current guidelines recommend to use low-molecular-weight heparin over direct oral anticoagulants to treat VTE in cancer patients at high risk of bleeding. METHODS: We used the Registro Informatizado Enfermedad Tromboemb00F3lica (RIETE) registry to compare the 6-month incidence rates of (1) VTE recurrences versus major bleeding and (2) fatal pulmonary embolism (PE) versus fatal bleeding in three subgroups (those with mild, moderate, or severe RI) of cancer patients receiving enoxaparin monotherapy. RESULTS: From January 2009 through June 2022, 2,844 patients with RI received enoxaparin for ≥6 months: 1,432 (50%) had mild RI, 1,168 (41%) moderate RI, and 244 (8.6%) had severe RI. Overall, 68, 62, and 12%, respectively, received the recommended doses. Among patients with mild RI, the rates of VTE recurrences versus major bleeding (4.6 vs. 5.4%) and fatal PE versus fatal bleeding (1.3 vs. 1.2%) were similar. Among patients with moderate RI, VTE recurrences were half as common as major bleeding (3.1 vs. 6.3%), but fatal PE and fatal bleeding were close (1.8 vs. 1.2%). Among patients with severe RI, VTE recurrences were threefold less common than major bleeding (4.1 vs. 13%), but fatal PE was threefold more frequent than fatal bleeding (2.5 vs. 0.8%). During the first 10 days, fatal PE was fivefold more common than fatal bleeding (2.1 vs. 0.4%). CONCLUSION: Among cancer patients with severe RI, fatal PE was fivefold more common than fatal bleeding. The recommended doses of enoxaparin in these patients should be revisited.

Método de Desenvolvimento das Habilidades de Comunicação no Autismo - DHACA: validação da aparência e do conteúdo / Method for Developing Communication Skills in Autism - DHACA: appearance and content validation

RESUMO Objetivo Validar a aparência e o conteúdo do método de Desenvolvimento das Habilidades de Comunicação no Autismo (DHACA). Método Trata-se de estudo de validação de abordagem quali-quantitativa. Participaram do estudo dez juízes fonoaudiólogos com expertise na área da comunicação alternativa. Os juízes receberam o livro de comunicação, bem como a descrição dos princípios, habilidades e estratégias do método DHACA e um formulário com itens relativos à apreciação da aparência e conteúdo do método. A validade foi calculada usando o índice de validade de conteúdo. Resultados A análise das respostas possibilitou o cálculo do grau de concordância entre os juízes e a elaboração da nova versão do instrumento. O cálculo do Índice de Validade de Conteúdo revelou uma validade de conteúdo excelente. Os juízes deram sugestões referentes aos aspectos de conteúdo do livro de comunicação, nos textos de participação do parceiro de comunicação e modelagem, uso de dicas e habilidades comunicativas. Conclusão O grau de concordância observado entre os juízes possibilitou a obtenção da validação da aparência e do conteúdo do método DHACA, considerando-se os itens isoladamente e o instrumento como um todo, podendo ter seu uso recomendado na prática clínica fonoaudiológica.

ABSTRACT Purpose To validate the appearance and content of the DHACA method to develop communication skills in autism. Methods This qualitative and quantitative validation study included 10 speech-language-hearing judges with expertise in alternative communication. The judges received the communication book, the description of the principles, skills, and strategies in the DHACA method, and a form with items for them to appraise the appearance and content of the method. The validity was calculated with the content validity index. Results The response analysis made it possible to calculate the degree of agreement between judges and develop the new instrument version. The calculation of the content validity index revealed excellent content validity. The judges made suggestions regarding the content of the communication book, texts regarding the participation of communication partners and modeling, using cues, and communicative skills. Conclusion The degree of agreement between judges ensured the validation of the appearance and content of the DHACA method, considering the items alone and the whole instrument. Hence, its use can be recommended for speech-language-hearing clinical practice.

Method for Developing Communication Skills in Autism - DHACA: appearance and content validation. / Método de Desenvolvimento das Habilidades de Comunicação no Autismo ­ DHACA: validação da aparência e do conteúdo.

PURPOSE: To validate the appearance and content of the DHACA method to develop communication skills in autism. METHODS: This qualitative and quantitative validation study included 10 speech-language-hearing judges with expertise in alternative communication. The judges received the communication book, the description of the principles, skills, and strategies in the DHACA method, and a form with items for them to appraise the appearance and content of the method. The validity was calculated with the content validity index. RESULTS: The response analysis made it possible to calculate the degree of agreement between judges and develop the new instrument version. The calculation of the content validity index revealed excellent content validity. The judges made suggestions regarding the content of the communication book, texts regarding the participation of communication partners and modeling, using cues, and communicative skills. CONCLUSION: The degree of agreement between judges ensured the validation of the appearance and content of the DHACA method, considering the items alone and the whole instrument. Hence, its use can be recommended for speech-language-hearing clinical practice.

OBJETIVO: Validar a aparência e o conteúdo do método de Desenvolvimento das Habilidades de Comunicação no Autismo (DHACA). MÉTODO: Trata-se de estudo de validação de abordagem quali-quantitativa. Participaram do estudo dez juízes fonoaudiólogos com expertise na área da comunicação alternativa. Os juízes receberam o livro de comunicação, bem como a descrição dos princípios, habilidades e estratégias do método DHACA e um formulário com itens relativos à apreciação da aparência e conteúdo do método. A validade foi calculada usando o índice de validade de conteúdo. RESULTADOS: A análise das respostas possibilitou o cálculo do grau de concordância entre os juízes e a elaboração da nova versão do instrumento. O cálculo do Índice de Validade de Conteúdo revelou uma validade de conteúdo excelente. Os juízes deram sugestões referentes aos aspectos de conteúdo do livro de comunicação, nos textos de participação do parceiro de comunicação e modelagem, uso de dicas e habilidades comunicativas. CONCLUSÃO: O grau de concordância observado entre os juízes possibilitou a obtenção da validação da aparência e do conteúdo do método DHACA, considerando-se os itens isoladamente e o instrumento como um todo, podendo ter seu uso recomendado na prática clínica fonoaudiológica.

NOISE POLLUTION IN CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER / POLUIÇÃO SONORA EM CRIANÇAS E ADOLESCENTES COM TRANSTORNO DO ESPECTRO AUTISTA

The World Health Organization (WHO) determines that the tolerable sound limit for humans is 65 decibels. Above that, it is considered noise pollution. Urban noises are invisible pollutants, they affect the health of men and animals, and can cause psychological and material impairments that alter the body's metabolism. In individuals with Autism Spectrum Disorder (ASD), noises can cause adverse and untimely reactions. This work aims to verify the influence of noise pollution on children and adolescents diagnosed with ASD, aged 0 to 19 years, living in the Metropolitan Region of Recife (RMR), Pernambuco, Brazil, through reports from family members. Data analysis was descriptive with qualitative and quantitative variables, based on bibliographical research. A questionnaire containing 33 questions was applied to 149 people responsible for children and adolescents with ASD. The result showed that 67.7% of them lived in noisy neighborhoods; 66.4% were sensitive to urban noise and 47.6% survived on just 1 minimum wage. Only 36% of family members reported noise pollution. The main noises highlighted were household appliances, fireworks and construction respectively.

A Organização Mundial da Saúde (OMS) determina que o limite tolerável de som para o ser humano é 65 decibéis. Acima disso, é considerado poluição sonora. Os ruídos urbanos são poluentes invisíveis, afetam a saúde dos homens e animais, podendo causar comprometimentos psicológicos e materiais que alteram o metabolismo do corpo. Em indivíduos com Transtorno do Espectro Autista (TEA), os ruídos podem causar reações adversas e intempestivas. Este trabalho tem como objetivo verificar a influência da poluição sonora em crianças e adolescentes diagnosticadas com TEA, na faixa etária de 0 a 19 anos, residentes na Região Metropolitana do Recife (RMR), Pernambuco, Brasil, através de relatos de familiares. A análise dos dados foi descritiva com variáveis qualitativas e quantitativas, fundamentada no levantamento bibliográfico. Foi aplicado questionário contendo 33 questões com 149 responsáveis por crianças e adolescentes com TEA. O resultado demonstrou que 67,7% delas residiam em bairros barulhentos; 66,4 % possuíam sensibilidade a ruídos urbanos e 47,6% sobreviviam com apenas 1 salário-mínimo. Apenas 36% dos familiares realizaram denúncias de poluição sonora. Os principais ruídos apontados foram respectivamente os eletrodomésticos, fogos de artifícios e construção civil.  

Plasma signatures of Congenital Generalized Lipodystrophy patients identified by untargeted lipidomic profiling are not changed after a fat-containing breakfast meal.

BACKGROUND: The incapacity to store lipids in adipose tissue in Congenital Generalized Lipodystrophy (CGL) causes hypoleptinemia, increased appetite, ectopic fat deposition and lipotoxicity. CGL patients experience shortened life expectancy. The plasma lipidomic profile has not been characterized fully in CGL, nor has the extent of dietary intake in its modulation. The present work investigated the plasma lipidomic profile of CGL patients in comparison to eutrophic individuals at the fasted state and after a breakfast meal. METHOD: Blood samples from 11 CGL patients and 10 eutrophic controls were collected after 12 h fasting (T0) and 90 min after an ad libitum fat-containing breakfast (T90). The lipidomic profile of extracted plasma lipids was characterized by non-target liquid chromatography mass spectrometry. RESULTS: Important differences between groups were observed at T0 and at T90. Several molecular species of fatty acyls, glycerolipids, sphingolipids and glycerophospholipids were altered in CGL. All the detected fatty acyl molecular species, several diacylglycerols and one triacylglycerol species were upregulated in CGL. Among sphingolipids, one sphingomyelin and one glycosphingolipid species showed downregulation in CGL. Alterations in the glycerophospholipids glycerophosphoethanolamines, glycerophosphoserines and cardiolipins were more complex. Interestingly, when comparing T90 versus T0, the lipidomic profile in CGL did not change as intensely as it did for control participants. CONCLUSIONS: The present study found profound alterations in the plasma lipidomic profile of complex lipids in CGL patients as compared to control subjects. A fat-containing breakfast meal did not appear to significantly influence the CGL profile observed in the fasted state. Our study may have implications for clinical practice, also aiding to a deeper comprehension of the role of complex lipids in CGL in view of novel therapeutic strategies.

Risk for recurrence of symptomatic upper-extremity deep vein thrombosis in patients without cancer: Analysis of three RIETE cohorts.

BACKGROUND: The natural history of patients with a pacemaker-related upper-extremity deep vein thrombosis (UEDVT) has not been consistently studied. METHODS: We used the RIETE registry data to compare the outcomes during anticoagulation and after its discontinuation in noncancer patients with symptomatic UEDVT associated with a pacemaker, other catheters, or no catheter. The major outcome was the composite of symptomatic pulmonary embolism or recurrent DVT. RESULTS: As of February 2022, 2578 patients with UEDVT were included: 156 had a pacemaker-related UEDVT, 557 had other catheters, and 1865 had no catheter. During anticoagulation, 61 patients (2.3%) developed recurrent VTE, 38 had major bleeding (1.4%), and 90 died (3.4%). After its discontinuation, 52 patients (4.4%) had recurrent acute venous thromboembolism (VTE) and six had major bleeding (0.5%). On multivariable analysis, there were no differences among subgroups in the rates of VTE recurrences or major bleeding during anticoagulation. After its discontinuation, patients with a pacemaker-related UEDVT had a higher risk for VTE recurrences than those with no catheter (adjusted OR: 4.59; 95% CI: 1.98-10.6). CONCLUSIONS: Patients with pacemaker-related UEDVT are at increased risk for VTE recurrences after discontinuing anticoagulation. If our findings are validated in adequately designed trials, this may justify changes in the current recommendations on the duration of anticoagulation.

Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.

Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near complete absence of functional adipose tissue from birth. CGL diagnosis can be based on clinical data including acromegaloid features, acanthosis nigricans, reduction of total body fat, muscular hypertrophy, and protrusion of the umbilical scar. The identification and knowledge of CGL by the health care professionals is crucial once it is associated with severe and precocious cardiometabolic complications and poor outcome. Image processing by deep learning algorithms have been implemented in medicine and the application into routine clinical practice is feasible. Therefore, the aim of this study was to identify congenital generalized lipodystrophy phenotype using deep learning. A deep learning approach model using convolutional neural network was presented as a detailed experiment with evaluation steps undertaken to test the effectiveness. These experiments were based on CGL patient's photography database. The dataset consists of two main categories (training and testing) and three subcategories containing photos of patients with CGL, individuals with malnutrition and eutrophic individuals with athletic build. A total of 337 images of individuals of different ages, children and adults were carefully chosen from internet open access database and photographic records of stored images of medical records of a reference center for inherited lipodystrophies. For validation, the dataset was partitioned into four parts, keeping the same proportion of the three subcategories in each part. The fourfold cross-validation technique was applied, using 75% (3 parts) of the data as training and 25% (1 part) as a test. Following the technique, four tests were performed, changing the parts that were used as training and testing until each part was used exactly once as validation data. As a result, a mean accuracy, sensitivity, and specificity were obtained with values of [90.85 ± 2.20%], [90.63 ± 3.53%] and [91.41 ± 1.10%], respectively. In conclusion, this study presented for the first time a deep learning model able to identify congenital generalized lipodystrophy phenotype with excellent accuracy, sensitivity and specificity, possibly being a strategic tool for detecting this disease.

Development of communication skills in an adolescent with autism, using alternative communication: a case report / Desenvolvimento das habilidades comunicacionais em adolescente autista com uso de comunicação alternativa: relato de caso

ABSTRACT Alternative communication has been successfully used in interventions to develop communication skills in children with ASD. However, few studies in Brazil have approached nonverbal adolescents with autism. This article aimed to demonstrate the impact of using an alternative communication system on the development of communication skills in a nonverbal adolescent presented with ASD. This is a single-case study with longitudinal intervention. Skills were assessed with the Communication Assessment in Autism Spectrum Disorder (ACOTEA). There was progress in communicative and behavioral skills. Receptive communications had a greater variation between the first, second, and third applications, increasing from 50% to 66.60% and then 83.30%, followed by social behavior, which increased from 45.80% to 70.80% and then 75%. The use of alternative communication with a robust communication system indicated evidence of the development of communication skills and social behavior in the adolescent with ASD that received the treatment.

RESUMO O uso da Comunicação Alternativa para o desenvolvimento de habilidades comunicacionais de crianças com TEA tem sido aplicado com êxito nas intervenções. Entretanto, no Brasil, são escassos os estudos na faixa etária da adolescência e autistas não verbais. Este artigo tem como objetivo demonstrar o impacto do uso de um sistema de comunicação alternativa no desenvolvimento das habilidades comunicacionais em um adolescente não-verbal com TEA. Trata-se de estudo de intervenção longitudinal do tipo estudo de caso único. As habilidades foram avaliadas pelo protocolo de Avaliação da Comunicação no Transtorno do Espectro do Autismo - ACOTEA. Constatou-se que houve avanço nas habilidades comunicativas e comportamentais. A comunicação receptiva apresentou maior variação entre a primeira, segunda e terceira aplicação, evoluindo de 50% para 66,60% e, no final, para 83,30%, seguida do comportamento social 45,80% para 70,80% e depois para 75%. O uso da Comunicação Alternativa com um sistema robusto de comunicação apontou evidências do desenvolvimento de habilidades comunicativas bem como no comportamento social no adolescente com TEA assistido.

Speech-language-hearing teletherapy for children with autism spectrum disorders during the covid-19 pandemic / Telefonoaudiologia para crianças com transtorno do espectro do autismo durante a pandemia da covid-19

ABSTRACT This paper aimed to investigate the contribution of speech-language-hearing teletherapy to the development of communication skills in children with autism spectrum disorders during the coronavirus-19 pandemic. This qualitative, interventive, longitudinal case series study analyzed data from the medical records of patients, based on instructions given to their families via speech-language-hearing teletherapy during social isolation. It was part of a public outreach program conducted in a speech-language-hearing teaching clinic, aiming to analyze results in the field of language. All children progressed in various aspects, such as the development of communication skills, expanded vocabulary, increased naming and asking, morphosyntactic development, and advancements in the use of augmentative and alternative communication. Also, shared attention and eye contact increased, the interaction with the family improved, and inadequate behaviors decreased; there was greater autonomy in daily routine and greater attention during activities; increased interest in toys during play and longer and more frequent playing, associated with decreased screen time. In conclusion, the results demonstrated progress in communication and social interaction after the speech-language-hearing teletherapy for children presented with autism spectrum disorders during the coronavirus-19 pandemic.

RESUMO Esse trabalho teve por objetivo investigar a contribuição da Telefonoaudiologia no desenvolvimento das habilidades comunicacionais de crianças com Transtorno do Espectro do Autismo durante a pandemia da Coronavírus-19. Trata-se de um estudo interventivo, longitudinal de abordagem qualitativa, do tipo série de casos, realizado por meio da análise de dados dos prontuários de pacientes atendidos, a partir das orientações às famílias, via telefonoaudiologia, passadas durante o período de isolamento social, em um projeto de extensão, realizado em uma clínica-escola de Fonoaudiologia, buscando analisar os resultados obtidos na área da linguagem. Foi observada evolução em todas as crianças, em diversos aspectos, como desenvolvimento das habilidades comunicativas com ampliação do vocabulário, aumento de nomeações e solicitações, desenvolvimento morfossintático e avanços no uso da Comunicação Aumentativa e Alternativa. Além do aumento na atenção compartilhada e no contato visual, houve melhora na interação com os familiares e redução dos comportamentos inadequados; maior autonomia na rotina diária e maior atenção durante as atividades; aumento do interesse pelos brinquedos durante a brincadeira e ampliação da frequência e do tempo do brincar, associado à diminuição do uso de telas. Concluiu-se que os resultados demonstraram avanços na comunicação e na interação social, após o teleconsulta fonoaudiológico para crianças com Transtorno do Espectro do Autismo durante a pandemia da Coronavírus-19.

Trombo en tránsito entre la aurícula derecha y la vena cava inferior en un paciente con contraindicación absoluta para trombólisis / Thrombus in transit between the right atrium and the inferior vena cava in a patient with an absolute contraindication for thrombolysis

Resumen La tromboembolia venosa es una condición relativamente común que se identifica en los servicios de urgencias y que representa morbilidad y mortalidad significativas en la población. Su desenlace más grave es la tromboembolia pulmonar, la cual desencadena una serie de procesos fisiopatológicos que pueden terminar en paro cardiaco y en la muerte posterior del paciente. Un trombo en las cavidades cardiacas derechas o en la vena cava es poco detectable; esta condición se conoce en la literatura como trombo en tránsito, y su hallazgo se asocia con alta mortalidad hospitalaria. A continuación, se presenta el caso de un paciente de sexo femenino, de 64 años de edad, con antecedente de cáncer uterino activo, hospitalizada por trombosis venosa profunda y en quien se tomó un ecocardiograma transtorácico de control que mostró un trombo en tránsito de alta movilidad en el límite entre la aurícula derecha y la vena cava inferior.

Abstract Venous thromboembolism is a relatively common condition that is identified in the emergency services and represents significant morbidity and mortality in the population. Its most severe outcome is pulmonary thromboembolism, which triggers several pathophysiological processes that can end in cardiac arrest and subsequent death of the patient. A thrombus found in the right cavities or in the vena cava is an undetectable process, this condition is known like ongoing thrombus. The finding of thrombus in transit has been associated with high hospital mortality. We present the case of a 64-year-old female patient with a history of active uterine cancer, who was hospitalized for deep vein thrombosis and in whom a control transthoracic echocardiogram is taken, showing evidence of a highly mobile thrombus in transit between the right atrium and inferior vena cava compatible with ongoing thrombus at this level.

Evaluation of the anti-diabetic drug sitagliptin as a novel attenuate to SARS-CoV-2 evidence-based in silico: molecular docking and molecular dynamics.

The current outbreak of COVID-19 cases worldwide has been responsible for a significant number of deaths, especially in hospitalized patients suffering from comorbidities, such as obesity, diabetes, hypertension. The disease not only has prompted an interest in the pathophysiology, but also it has propelled a massive race to find new anti-SARS-CoV-2 drugs. In this scenario, known drugs commonly used to treat other diseases have been suggested as alternative or complementary therapeutics. Herein we propose the use of sitagliptin, an inhibitor of dipeptidyl peptidase-4 (DPP4) used to treat type-II diabetes, as an agent to block and inhibit the activity of two proteases, 3CLpro and PLpro, related to the processing of SARS-CoV-2 structural proteins. Inhibition of these proteases may possibly reduce the viral load and infection on the host by hampering the synthesis of new viruses, thus promoting a better outcome. In silico assays consisting in the modeling of the ligand sitagliptin and evaluation of its capacity to interact with 3CLpro and PLpro through the prediction of the ligand bioactivity, molecular docking, overlapping of crystal structures, and molecular dynamic simulations were conducted. The experiments indicate that sitagliptin can interact and bind to both targets. However, this interaction seems to be stronger and more stable to 3CLpro (ΔG = -7.8 kcal mol-1), when compared to PLpro (ΔG = -7.5 kcal mol-1). This study suggests that sitagliptin may be suitable to treat COVID-19 patients, beyond its common use as an anti-diabetic medication. In vivo studies may further support this hypothesis. Supplementary Information: The online version contains supplementary material available at 10.1007/s13205-022-03406-w.

Painful ejaculation in a patient with pelvic venous insufficiency.

Pelvic venous insufficiency (PVI) is common in women but has been rarely diagnosed in men. The clinical manifestations include varicocele and pelvic disturbances; however, we were unable to find a previous description of painful ejaculation as a symptom of PVI. We present the case of a 36-year-old man with a 7-year history of severe sharp ejaculatory pain. PVI was suspected after previous treatment attempts. The diagnosis was confirmed by descending phlebography, and he underwent coil embolization of the pelvic vessels and phlebotonic therapy. At 6 months after treatment, he reported a 75% improvement in his condition. Therefore, painful ejaculation should be considered an uncommon manifestation of PVI.

Habilidades comunicativas de crianças com autismo / Communicative skills of children with autism / Habilidades comunicativas de niños con autista

Introdução: O Transtorno do Espectro do Autismo (TEA) é um transtorno do neurodesenvolvimento. Algumas características marcantes do transtorno são as dificuldades na comunicação e na linguagem, elementos importantes para o diagnóstico precoce. Objetivo: Investigar as habilidades de comunicação de um grupo de crianças com transtorno do espectro do autismo e a relação com a faixa etária e intervenção fonoaudiológica. Método: Participaram da pesquisa, 11 crianças com TEA, entre dois e sete anos de idade, atendidas numa Clínica-Escola de Fonoaudiologia. Para a avaliação do perfil funcional da comunicação, foi utilizado o protocolo ACOTEA - Avaliação da Comunicação no Transtorno do Espectro do Autismo. Após duas sessões com jogos e brinquedos para estabelecer as situações comunicativas, os terapeutas responderam trinta e seis afirmativas, relacionadas à comunicação (expressão, compreensão e comportamento social). Além disso, foram coletados dados na anamnese sobre idade, sexo e se a criança já tinha se submetido à intervenção fonoaudiológica com comunicação ampliada e alternativa. Resultados: De acordo com os resultados, foram observados déficits nas habilidades expressivas (pragmáticas e morfossintáticas); na atenção compartilhada e em habilidades relacionadas à interação com o ambiente. Foi observado que as crianças entre cinco a sete anos apresentaram melhor desempenho na atenção compartilhada, no brincar funcional e em responderem ao nome. E as crianças que foram submetidas à intervenção com comunicação alternativa apresentaram melhora significativa na atenção compartilhada. Conclusão: Os resultados obtidos demonstram que há relação entre as habilidades comunicativas e faixa etária e que a intervenção com comunicação alternativa contribui para o desenvolvimento da atenção compartilhada.

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Some features of the disorder are difficulties in communication and language, which are important elements for early diagnosis. Objective: To investigate the communication skills of a group of children with autism spectrum disorder and the relationship with an age group and speech therapy intervention. Methods: The study included 11 children with ASD, aged between two and seven years old, and attended at the Speech-Language Pathology Clinic. To assess the functional profile of communication, the ACOTEA protocol - Communication Assessment in Autism Spectrum Disorder was used. After two sessions with games and toys to establish communicative situations, the therapists answered the thirty-six statements related to communication (expression, comprehension and social behavior). In addition, data were collected from the anamnesis on age, gender and whether the child had already undergone speech therapy with extended and alternative communication. Results: According to the results, deficits in expressive skills (pragmatic and morphosyntactic) were observed; shared attention and skills related to interaction with the environment, such as playing alone or with the environment. It was observed that children between five and seven years old performed better in shared attention, functional play and responding to names. And children who underwent the intervention with alternative communication showed significant improvement in shared care. Conclusion: The results obtained demonstrate that there is a relationship between communication skills and age group and that intervention with alternative communication contributes to the development of shared attention.

Introducción: El trastorno del espectro autista (TEA) es un trastorno del desarrollo neurológico. Algunas características del trastorno son las dificultades en la comunicación y el lenguaje, que son elementos importantes para el diagnóstico temprano. Objetivo: Investigar las habilidades comunicativas de un grupo de niños con trastorno del espectro autista y la relación con un grupo de edad y la intervención de logopedia. Métodos: Participaron de la investigación 11 niños con TEA, entre dos y siete años de edad, atendidos en una Clínica-Escuela de Logopedia. Para la evaluación del perfil funcional de la comunicación se utilizó el protocolo ACOTEA - Evaluación de la comunicación en el trastorno del espectro autista. Tras dos sesiones con juegos y juguetes para establecer situaciones comunicativas, los terapeutas respondieron a treinta y seis afirmaciones, relacionadas con la comunicación (expresión, comprensión y comportamiento social). Además, se recopilaron datos en la anamnesis sobre la edad, el sexo y si el niño ya se había sometido a terapia del habla con comunicación expandida y alternativa. Resultados: De acuerdo con los resultados, se observaron déficits en las habilidades expresivas (pragmáticas y morfosintácticas); atención compartida y habilidades relacionadas con la interacción con el medio ambiente. Se observó que los niños de entre cinco y siete años se desempeñaron mejor en la atención compartida, el juego funcional y la respuesta a los nombres. Y los niños que experimentaron la intervención con comunicación alternativa proporcionaron una mejora significativa en el cuidado compartido. Conclusión: Los resultados obtenidos demuestran que existe una relación entre las habilidades comunicativas y el grupo de edad y que la intervención con la comunicación alternativa contribuye al desarrollo de la atención compartida.

Fracture Risk After Bariatric Surgery: A Systematic Literature Review and Meta-Analysis.

OBJECTIVE: Bariatric surgery has undeniable benefits for cardiovascular and metabolic health, but it can result in negative effects on mineral and bone metabolism. This study aimed to review the current data on fractures after the main types of bariatric surgery. METHODS: Therefore, a systematic review was performed using the electronic literature available in the databases LILACS, CENTRAL, Web of Science, Embase, and PubMed/MEDLINE, with results until January 2021. Keywords were descriptors for bariatric surgery or bariatric medicine or bariatrics or gastroplasty and bone or bones or bone fractures, referenced in all words of the text in the study. RESULTS: The meta-analysis of observational studies and interventional trials showed that the risk of any type of fracture was higher in the surgical group than in the nonsurgical group (relative risk [RR], 1.20 [95% confidence interval {CI}, 1.15-1.26; P < .00001; Phetero < 0.000001; I2 = 94%], and RR, 1.16 [95% CI, 1.00-1.33; P = .04; Phetero = 0.27; I2 = 23%], respectively). It is worth noting that the included interventional studies have a low rating on the risk of bias assessment scales. Compared with those who underwent restrictive procedures, subjects had an increased fracture risk after malabsorptive procedures (RR, 0.49 [95% CI, 0.40-0.61; P < .00001); Phetero = 0.96; I2 = 0%). CONCLUSION: We found that bariatric procedures are associated with an increased risk of fractures, especially the malabsorptive techniques.

Use of a robust alternative communication system in autism spectrum disorder: a case report / Uso de sistema robusto de comunicação alternativa no transtorno do espectro do autismo: relato de caso

ABSTRACT This study aimed at investigating the impact of using a robust augmentative and alternative communication (AAC) system on the communication of a child with autism spectrum disorder. This longitudinal intervention research is a single case study. Skills were assessed with data obtained with the protocol Communication Assessment in Autism Spectrum Disorder at the beginning and end of the intervention. Receptive and expressive communication and behavioral skills increased respectively by 62.5%, 36.84%, and 55.53%. Hence, positive results were found in communication development using the robust AAC system in the intervention, as verified in the progress in receptive and expressive communication and behavioral skills.

RESUMO O objetivo deste estudo foi investigar o impacto do uso de um sistema robusto de Comunicação Aumentativa e Alternativa (CAA) na comunicação de uma criança com Transtorno do Espectro do Autismo. Trata-se de uma pesquisa de intervenção longitudinal do tipo estudo de caso único. As habilidades foram avaliadas por meio dos dados obtidos do protocolo Avaliação Comunicacional no Transtorno do Espectro do Autismo no início e no final da intervenção. Foi possível constatar que as habilidades comunicativas receptivas, expressivas e comportamentais apresentaram crescimento de 62,5, 36,84 e 55,53%, respectivamente. Portanto, foram observados resultados positivos no desenvolvimento da comunicação com o uso de um sistema robusto de CAA durante a intervenção, verificado no avanço de habilidades comunicativas receptivas e expressivas, assim como, habilidades comportamentais.

Tromboprofilaxis, anticoagulación y coagulopatía en tiempos de pandemia: recomendación de la ACATA, ACMI, SCC CCV y ACMV / Thromboprophylaxis, anticoagulation and coagulopathy in times of pandemic: The ACATA, ACMI, SCC CCV and ACMV recommendation

Resumen Introducción La enfermedad por coronavirus 2019 (COVID-19) puede predisponer a tromboembolia venosa o trombosis arterial debido a una respuesta inflamatoria aumentada, hipoxia, inmovilización y coagulación intravascular diseminada; hasta en un 20 a 50% de pacientes hospitalizados con COVID-19 tienen alteraciones hematológicas relacionadas con coagulopatía (dímero D elevado, tiempo de protrombina prolongado, trombocitopenia y/o fibrinógeno bajo). Evaluaciones post mortem evidencian depósitos trombóticos microvasculares típicos, ricos en plaquetas en vasos pequeños de pulmones y otros órganos. Objetivo Brindar una aproximación práctica y actualizada en el manejo del paciente con riesgo elevado o que presentan eventos tromboembólicos en el marco de la actual pandemia por COVID-19. Material y métodos: Se realizó una revisión narrativa que incluyó estudios observacionales descriptivos. Se efectuó una búsqueda de la literatura de evidencia médica en diferentes buscadores como Science Direct y PubMed, usando las palabras claves “thromboprophylaxis”, “anticoagulation”, “thrombosis”, “anticoagulant”, “COVID-19”, “SARS-CoV-2”, “coronavirus”. Posteriormente se escribieron las recomendaciones generales referentes al tema. Conclusiones Existen diferentes formas en las que la pandemia por COVID-19 puede predisponer al desarrollo de enfermedades trombóticas o tromboembólicas, el efecto directo o indirecto de este virus relacionado con la tormenta de citocinas que precipita el inicio del síndrome de respuesta inflamatoria sistémica y predispone al desarrollo de eventos trombóticos; también las intervenciones disponibles pueden tener interacciones farmacológicas con antiagregantes y/o anticoagulantes.

Abstract Introduction Coronavirus 19 infection can predispose to VTE or arterial thrombosis due to a heightened inflammatory response, hypoxia, immobility and DIC. Up to 20-50% of hospitalized patients with COVID-19 have hematological disorders related to coagulopathies (elevated D-dimer, prolonged PT, thrombocytopenia and/or low fibrinogen). Post-mortem examinations show typical platelet-rich microvascular thrombotic deposits in the small vessels of the lungs and other organs. Objective To provide a practical, updated approach to the treatment of patients at high risk for or with ongoing thromboembolic events in the current COVID-19 pandemic setting. Material and methods A narrative review was performed including descriptive observational studies. A search of the medical evidence literature was carried out in different search engines such as ScienceDirect and PubMed, using the following key words: “thromboprophylaxis”, “anticoagulation”, “thrombosis”, “anticoagulant”, “COVID-19”, “SARS-CoV-2”, and “coronavirus”, and general recommendations on the topic were subsequently composed. Conclusions The are various ways in which the COVID-19 pandemic may predispose to the development of thrombotic or thromboembolic diseases. The virus may have a direct or indirect effect related to the cytokine storm which triggers the onset of systemic inflammatory response syndrome and predisposes to the development of thrombotic events. The available interventions may also have pharmacological interactions with antiplatelet drugs and/or anticoagulants.

Secondary Hyperparathyroidism, Bone Density, and Bone Turnover After Bariatric Surgery: Differences Between Roux-en-Y Gastric Bypass and Sleeve Gastrectomy.

PURPOSE: Bariatric surgery may lead to metabolic bone disease. MATERIALS AND METHODS: In this cross-sectional study, we compared the prevalence of secondary hyperparathyroidism (SHPT), impact on bone mass and turnover markers, and serum leptin after Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) in 117 patients (91% female, 51% RYGB, age 41.8 ± 6.7 years, time of surgery 4.3 ± 3.4 years) at different times (1-2 years, > 2 and < 5 years and ≥ 5 years). Body composition, bone mineral density (BMD), by dual-energy X-ray absorptiometry, and bone parameters (PTH, serum calcium, 25OHD, alkaline phosphatase (AP), C-telopeptide (CTX)) were analyzed. RESULTS: Prevalence of SHPT (PTH ≥ 65 pg/ml) was 26%, RYGB > SG (18.4% vs. 7.8%, p = 0.039), despite similar 25OHD and calcium levels. Mean PTH, CTX, and AP were higher in RYGB vs. SG (61.3 ± 29.5 vs 49.5 ± 32.3 pg/ml, p = 0.001; 0.596 ± 0.24 vs. 0.463 ± 0.23 ng/ml; 123.9 ± 60.8 vs. 100.7 ± 62.0 U/l). There were 13.5% decreases in femoral neck BMD in all patients, over the study period. In the last group, the RYGB group showed greater bone loss in total body BMD (1.016 vs. 1.151 g/cm2, - 8.1%, p = 0.003) and total femur BMD (1.164 vs. 1.267 g/cm2, - 11.7%, p = 0.007). Mean leptin was lower in the RYGB vs. SG group, with no correlation with BMD in any site. CONCLUSION: Our data suggest a more deleterious role of RYGB on bone remodeling up to 5 years postoperatively in comparison with SG.