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Fluorescent and non-fluorescent neural tract tracers enable the investigation of neural pathways in both peripheral and central nervous systems in laboratory animals demonstrating images with high resolution and great anatomic precision. Anterograde and retrograde viral tracers are important cutting-edge tools for neuroanatomical mapping. The optogenetic consists of an advanced alternative for in vivo neural tract tracing procedures, fundamentally considering the possibility to dissect and modulate pathways either exciting or inhibiting neural circuits in laboratory animals. The neurotractography by diffusion tensor imaging in vivo procedures enables the study of neural pathways in humans with reasonable accuracy. Here we describe the procedure of classical anatomic neural tract tracing and modern optogenetic technique performed in anima vili in addition to different diffusion tensor neurotractography performed in anima nobili.

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The Asian Citrus Psyllid (ACP), Diaphorina citri, is a vector of the pathological bacterium Candidatus Liberibacter asiaticus (CLas), which causes the most devastating disease to the citrus industry worldwide, known as greening or huanglongbing (HLB). Earlier field tests with an acetic acid-based lure in greening-free, 'Valencia' citrus orange groves in California showed promising results. The same type of lures tested in São Paulo, Brazil, showed unsettling results. During the unsuccessful trials, we noticed a relatively large proportion of females in the field, ultimately leading us to test field-collected males and females for Wolbachia and CLas. The results showed high rates of Wolbachia and CLas infection in field populations. We then compared the olfactory responses of laboratory-raised, CLas-free, and CLas-infected males to acetic acid. As previously reported, CLas-uninfected males responded to acetic acid at 1 µg. Surprisingly, CLas-infected males required 50 × higher doses of the putative sex pheromone, thus explaining the failure to capture CLas-infected males in the field. CLas infection was also manifested in electrophysiological responses. Electroantennogram responses from CLas-infected ACP males were significantly higher than those obtained with uninfected males. To the best of our knowledge, this is the first report of a pathogen infection affecting a vector's response to a sex attractant.

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BACKGROUND: Haloperidol (HAL) is an antipsychotic used in the treatment of schizophrenia. However, adverse effects are observed in the extrapyramidal tracts due to its systemic action. Natural compounds are among the treatment alternatives widely available in Brazilian biodiversity. Mygalin (MY), a polyamine that was synthesized from a natural molecule present in the hemolymph of the Acanthoscurria gomesian spider, may present an interesting approach. AIMS: This study aimed to evaluate the effect of MY in mice subjected to HAL-induced catalepsy. METHODS: Male Swiss mice were used. Catalepsy was induced by intraperitoneal administration of HAL (0.5 mg/kg - 1 mL/Kg) diluted in physiological saline. To assess the MY effects on catalepsy, mice were assigned to 4 groups: (1) physiological saline (NaCl 0.9 %); (2) MY at 0.002 mg/Kg; (3) MY at 0.02 mg/Kg; (4) MY at 0.2 mg/Kg. MY or saline was administered intraperitoneally (IP) 10 min b HAL before saline. Catalepsy was evaluated using the bar test at 15, 30, 60, 90, and 120 min after the IP administration of HAL. RESULTS: The latency time in the bar test 15, 30, 60, and 90 min increased (p < 0.05) after IP administration of HAL compared to the control group. Catalepsy was attenuated 15, 30, 90, and 120 min (p < 0.05) after the IP-administration of MY at 0.2 mg/Kg; while MY at 0.02 mg/Kg attenuated catalepsy 15 min after the HAL treatment. Our findings showed that MY attenuates the HAL-induced cataleptic state in mice.

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Background: Haloperidol (HAL) is an antipsychotic used in the treatment of schizophrenia. However, adverse effects are observed in the extrapyramidal tracts due to its systemic action. Natural compounds are among the treatment alternatives widely available in Brazilian biodiversity. Mygalin (MY), a polyamine that was synthesized from a natural molecule present in the hemolymph of the Acanthoscurria gomesian spider, may present an interesting approach. Aims: This study aimed to evaluate the effect of MY in mice subjected to HAL-induced catalepsy. Methods: Male Swiss mice were used. Catalepsy was induced by intraperitoneal administration of HAL (0.5 mg/kg − 1 mL/Kg) diluted in physiological saline. To assess the MY effects on catalepsy, mice were assigned to 4 groups: (1) physiological saline (NaCl 0.9 %); (2) MY at 0.002 mg/Kg; (3) MY at 0.02 mg/Kg; (4) MY at 0.2 mg/Kg. MY or saline was administered intraperitoneally (IP) 10 min b HAL before saline. Catalepsy was evaluated using the bar test at 15, 30, 60, 90, and 120 min after the IP administration of HAL. Results: The latency time in the bar test 15, 30, 60, and 90 min increased (p < 0.05) after IP administration of HAL compared to the control group. Catalepsy was attenuated 15, 30, 90, and 120 min (p < 0.05) after the IP-administration of MY at 0.2 mg/Kg; while MY at 0.02 mg/Kg attenuated catalepsy 15 min after the HAL treatment. Our findings showed that MY attenuates the HAL-induced cataleptic state in mice.

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Introdução: As técnicas microcirúrgicas caracterizam-se pela aplicação de manobras e suturas em estruturas milimétricas com o auxílio de lentes de aumento. São técnicas complexas, utilizadas em diversas especialidades médicas, que demandam grande habilidade e treinamento antes da aplicação em humanos. O objetivo é desenvolver um modelo de baixo custo e alta fidelidade, para o treinamento de técnicas de microcirurgia, utilizando um fragmento de patch de pericárdio bovino. Método: São utilizados para a confecção deste modelo segmentos remanescentes de uma placa de pericárdio bovino, previamente utilizado em reparos vasculares. O material é recortado em duas partes simétricas e suas extremidades fixadas aos campos cirúrgicos, com auxílio de clamps. A borda superior de cada uma das partes é, então, suturada à borda inferior com fio de Prolene 8-0, de maneira que cada uma forme uma estrutura tubular. Posteriormente, as extremidades tubulares livres passam pela dissecção da camada adventícia e são suturadas entre si, mimetizando uma anastomose vascular término-terminal. Resultados: Com o modelo, simulam-se os mesmos inconvenientes/ dificuldades presentes nas suturas vasculares humanas, como a delaminação de camadas, excesso da camada adventícia e risco de sutura inadvertida da parede posterior, provando sua utilidade na aquisição de habilidades microcirúrgicas básicas, sem necessidade de manipulação de tecidos humanos ou animais. A prática neste modelo pode ocorrer dentro do próprio centro cirúrgico e emprega materiais que seriam descartados. Conclusão: A utilização do pericárdio bovino para confecção de suturas milimétricas mimetiza o tecido vascular humano e é um procedimento de baixo custo, que possibilita o treinamento de habilidades microcirúrgicas.

Introduction: Microsurgical techniques are characterized by the application of maneuvers and sutures to millimetric structures with the aid of magnifying lenses. These are complex techniques, used in various medical specialties, which require great skill and training before applying them to humans. The objective is to develop a lowcost and high-fidelity model for training microsurgery techniques using a fragment of bovine pericardium patch. Method: Remaining segments of a bovine pericardium plate, previously used in vascular repairs, are used to create this model. The material is cut into two symmetrical parts, and its ends are fixed to the surgical drapes with the aid of clamps. The upper edge of each part is then sutured to the lower edge with 8-0 Prolene thread so that each one forms a tubular structure. Subsequently, the free tubular ends undergo dissection of the adventitial layer and are sutured together, mimicking an end-to-end vascular anastomosis. Results: With the model, the same inconveniences/ difficulties present in human vascular sutures are simulated, such as delamination of layers, excess of the adventitial layer, and risk of inadvertent suturing of the posterior wall, proving its usefulness in the acquisition of basic microsurgical skills, without need to manipulate human or animal tissues. Practice in this model can take place within the surgical center itself and uses materials that would otherwise be discarded. Conclusion: The use of bovine pericardium to create millimetric sutures mimics human vascular tissue and is a low-cost procedure that allows the training of microsurgical skills.

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Neuropathic pain (NP) represents a complex disorder with sensory, cognitive, and emotional symptoms. The medial prefrontal cortex (mPFC) takes critical regulatory roles and may change functionally and morphologically during chronic NP. There needs to be a complete understanding of the neurophysiological and psychopharmacological bases of the NP phenomenon. This study aimed to investigate the participation of the infralimbic division (IFL) of the mPFC in chronic NP, as well as the role of the N-methyl-D-aspartic acid receptor (NMDAr) in the elaboration of chronic NP. Male Wistar rats were submitted to the von Frey and acetone tests to assess mechanical and cold allodynia after 21 days of chronic constriction injury (CCI) of the sciatic nerve or Sham-procedure ("false operated"). Electrical neurostimulation of the IFL/mPFC was performed by low-frequency stimuli (20 µA, 100 Hz) applied for 15 s by deep brain stimulation (DBS) device 21 days after CCI. Either cobalt chloride (CoCl2 at 1.0 mM/200 nL), NMDAr agonist (at 0.25, 1.0, and 2.0 nmol/200 nL) or physiological saline (200 nL) was administered into the IFL/mPFC. CoCl2 administration in the IFL cortex did not alter either mechanical or cold allodynia. DBS stimulation of the IFL cortex decreased mechanical allodynia in CCI rats. Chemical stimulation of the IFL cortex by an NMDA agonist (at 2.0 nmol) decreased mechanical allodynia. NMDA at any dose (0.25, 1.0, and 2.0 nmol) reduced the flicking/licking duration in the cold test. These findings suggest that the IFL/mPFC and the NMDAr of the neocortex are involved in attenuating chronic NP in rats.

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Kallikrein 6 (KLK6) is an attractive drug target for the treatment of neurological diseases and for various cancers. Herein, we explore the accuracy and efficiency of different computational methods and protocols to predict the free energy of binding (ΔGbind) for a series of 49 inhibitors of KLK6. We found that the performance of the methods varied strongly with the tested system. For only one of the three KLK6 datasets, the docking scores obtained with rDock were in good agreement (R2 ≥ 0.5) with experimental values of ΔGbind. A similar result was obtained with MM/GBSA (using the ff14SB force field) calculations based on single minimized structures. Improved binding affinity predictions were obtained with the free energy perturbation (FEP) method, with an overall MUE and RMSE of 0.53 and 0.68 kcal/mol, respectively. Furthermore, in a simulation of a real-world drug discovery project, FEP was able to rank the most potent compounds at the top of the list. These results indicate that FEP can be a promising tool for the structure-based optimization of KLK6 inhibitors.

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Abstract Objectives Prominent ear abnormalities affect 5% of the population. A prospective, double-blind study of patients who underwent otoplasty procedures to correct these abnormalities was conducted to compare two surgical techniques. They diverge by the preservation or not of conchal cartilage. Methods The two techniques were compared by measuring the cephalo-auricular and scapho-conchal angles. Measurements were performed in pre and 6-months post-operative periods using alginate molding. Twenty patients were randomly assigned to two groups (with and without cartilage preservation) with 10 participants each. Student's t-test, Covariance Analysis Model (ANCOVA), and non-parametric Mann-Whitney were used in the statistical analyses. Results A significant reduction in the average of the cephalo-auricular and scapho-conchal angles was observed in both surgical procedures (p < 0.001). However, no significant difference was found between them (p = 0.887). Conclusion The two techniques analyzed in this study fulfilled their objectives. Therefore, further comparative studies are needed to confirm the superiority of one over the other. Level I Evidence obtained from at least one properly designed randomized controlled trial.

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Depression has a high rate of comorbidity with neuropathic pain. This study aims to investigate the effect of Mygalin, an acylpolyamine synthesized from a natural molecule in the hemolymph of the Acanthoscurria gomesiana spider, injected into the prelimbic (PrL) region of the medial prefrontal cortex on chronic neuropathic pain and depression comorbidity in rats. To investigate that comorbidity, neuropathic pain was induced by chronic constriction injury (CCI) of the sciatic nerve in male Wistar rats. The biotinylated biodextran amine (BDA) bidirectional neural tract tracer was microinjected into the PrL cortex to study brain connections. Rodents were further subjected to von Frey (mechanical allodynia), acetone (cold allodynia), and forced swim (depressive-like behavior) tests. BDA neural tract tracer-labeled perikarya were found in the dorsal columns of the periaqueductal gray matter (dPAG) and the dorsal raphe nucleus (DRN). Neuronal activity of DRN neurons decreased in CCI rats. However, PrL cortex treatment with Mygalin increased the number of spikes on DRN neurons. Mygalin treatment in the PrL cortex decreased both mechanical and cold allodynia and immobility behavior in CCI rats. PrL cortex treatment with N-methyl-D-aspartate (NMDA) receptor receptors attenuated the analgesic and antidepressive effects caused by Mygalin. The PrL cortex is connected with the dPAG and DRN, and Mygalin administration into the PrL increased the activity of DRN neurons. Mygalin in the PrL cortex produced antinociceptive and antidepressive-like effects, and the NMDA agonist reversed these effects.

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High-energy trauma has increased significantly in the last decade, mostly in the lower limbs, in many cases requiring fasciotomy due to the subsequent compartment syndrome. In this context, its closure often leads to a delay in the patient's comprehensive treatment and the return to their activities and may lead to local infection, in addition to generating high costs. There are many options for the plastic surgeon to try to bring the edges together and reconstruct the extremities, such as flaps, grafts, vacuum dressings, and elastic sutures, in addition to expansion devices, sometimes with a combination of the above.

O trauma de grande energia vem aumentando de maneira expressiva na última década, em boa parte de membros inferiores, necessitando, em muitos casos, de fasciotomia devido à síndrome compartimental subsequente. Neste contexto muitas vezes seu fechamento acaba por levar a um retardo no tratamento integral do paciente, do retorno a suas atividades e podendo levar a infecção local, além de gerar altos custos. Há muitas opções ao cirurgião plástico para a tentativa de aproximação de bordos e reconstrução das extremidades, como retalhos, enxertos, curativo a vácuo e sutura elástica, além de dispositivos de expansão, sendo, às vezes, com combinação das anteriores. O método de fechamento apresentado através do alongamento progressivo da pele com fio de Kirschnner representa uma forma de baixo custo e facilmente reproduzível para lidar com este tipo de ferida.

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OBJECTIVES: Prominent ear abnormalities affect 5% of the population. A prospective, double-blind study of patients who underwent otoplasty procedures to correct these abnormalities was conducted to compare two surgical techniques. They diverge by the preservation or not of conchal cartilage. METHODS: The two techniques were compared by measuring the cephalo-auricular and scapho-conchal angles. Measurements were performed in pre and 6-months post-operative periods using alginate molding. Twenty patients were randomly assigned to two groups (with and without cartilage preservation) with 10 participants each. Student's t-test, Covariance Analysis Model (ANCOVA), and non-parametric Mann-Whitney were used in the statistical analyses. RESULTS: A significant reduction in the average of the cephalo-auricular and scapho-conchal angles was observed in both surgical procedures (p<0.001). However, no significant difference was found between them (p=0.887). CONCLUSION: The two techniques analyzed in this study fulfilled their objectives. Therefore, further comparative studies are needed to confirm the superiority of one over the other. LEVEL I: Evidence obtained from at least one properly designed randomized controlled trial.

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Depression has a high rate of comorbidity with neuropathic pain. This study aims to investigate the effect of Mygalin, an acylpolyamine synthesized from a natural molecule in the hemolymph of the Acanthoscurria gomesiana spider, injected into the prelimbic (PrL) region of the medial prefrontal cortex on chronic neuropathic pain and depression comorbidity in rats. To investigate that comorbidity, neuropathic pain was induced by chronic constriction injury (CCI) of the sciatic nerve in male Wistar rats. The biotinylated biodextran amine (BDA) bidirectional neural tract tracer was microinjected into the PrL cortex to study brain connections. Rodents were further subjected to von Frey (mechanical allodynia), acetone (cold allodynia), and forced swim (depressive-like behavior) tests. BDA neural tract tracer-labeled perikarya were found in the dorsal columns of the periaqueductal gray matter (dPAG) and the dorsal raphe nucleus (DRN). Neuronal activity of DRN neurons decreased in CCI rats. However, PrL cortex treatment with Mygalin increased the number of spikes on DRN neurons. Mygalin treatment in the PrL cortex decreased both mechanical and cold allodynia and immobility behavior in CCI rats. PrL cortex treatment with N-methyl-D-aspartate (NMDA) receptor receptors attenuated the analgesic and antidepressive effects caused by Mygalin. The PrL cortex is connected with the dPAG and DRN, and Mygalin administration into the PrL increased the activity of DRN neurons. Mygalin in the PrL cortex produced antinociceptive and antidepressive-like effects, and the NMDA agonist reversed these effects.

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O tratamento das feridas complexas com grande perda de partes moles é um desafio para a cirurgia plástica, principalmente quando a ferida encontra-se infectada. Várias opções são consideradas para o tratamento, como sutura, enxertos, retalhos, expansores. Devido à complexidade dos casos, frequente associação de morbidades, necessidade de intervenções multidisciplinar e longos internamentos, os custos do tratamento são frequentemente elevados. Este trabalho vem demonstrar a técnica de sutura elástica empregada em um caso clínico, utilizando tração contínua da pele em associação ao curativo a vácuo, que possibilitou reabilitação do paciente sem a necessidade de intervenções mais agressivas para o fechamento da ferida traumática extensa.

Treating complex wounds with great loss of soft tissues is a challenge for plastic surgery, especially when the wound is infected. Several options are considered for treatment, such as sutures, grafts, flaps, and expanders. Due to the complexity of the cases, the frequent association of morbidities, the need for multidisciplinary interventions, and long hospital stays, treatment costs are often high. This work demonstrates the elastic suture technique used in a clinical case, using continuous skin traction in association with a vacuum dressing, which enabled patient rehabilitation without the need for more aggressive interventions to close the extensive traumatic wound.

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A síndrome autoimune induzida por adjuvantes (ASIA) e seus critérios diagnósticos foram descritos por Shoenfeld em 2011, relacionando sintomas de autoimunidade a adjuvantes, como o silicone, presente em próteses mamárias. Essa revisão sistemática objetivou reunir dados da literatura sobre a sintomatologia, a incidência e os tratamentos propostos para ASIA causada por implantes mamários de silicone (IMS). Foram realizadas pesquisas nas bases de dados PubMed, LILACS, Embase e Cochrane, utilizando os descritores "Autoimmune Syndrome Induced by Adjuvants", "Breast implant" e "Silicone Implant Incompatibility Syndrome". A estratégia de busca gerou 95 artigos, dos quais 20 foram incluídos na revisão. São as três as principais teorias sugeridas pelos autores para explicar o desenvolvimento da síndrome: predisposição genética, silicone bleeding e a formação de uma cápsula periprótese. As manifestações clínicas mais frequentemente descritas incluem fadiga crônica, artralgia, mialgia, distúrbios cognitivos e do sono. Não há consenso sobre os achados laboratoriais e os fatores de risco associados, além disso, estudos recentes propõem a ampliação dos critérios diagnósticos inicialmente descritos. O tratamento adequado permanece controverso, envolvendo desde o uso de medicações até o explante da prótese. Apesar dos artigos revisados sugerirem a existência da ASIA relacionada aos IMS, sua fisiopatologia precisa é desconhecida, os sintomas relatados são inespecíficos e o tempo entre a exposição e o surgimento das manifestações é incerto. Por meio dessa revisão sistemática, conclui-se que, até o presente momento, não existem evidências científicas suficientes para estabelecer a causalidade do desenvolvimento da síndrome autoimune induzida por adjuvantes decorrente de implantes mamários de silicone.

Adjuvant-induced autoimmune syndrome (ASIA) and its diagnostic criteria were described by Shoenfeld in 2011, relating symptoms of autoimmunity to adjuvants, such as silicone, present in breast implants. This systematic review aimed to gather data from the literature on symptomatology, incidence and proposed treatments for ASIA caused by silicone breast implants (SBI). Searches were carried out in PubMed, LILACS, Embase and Cochrane databases, using the descriptors "Autoimmune Syndrome Induced by Adjuvants," "Breast implant," and "Silicone Implant Incompatibility Syndrome." The search strategy generated 95 articles, of which 20 were included in the review. The authors suggest three main theories to explain the development of the syndrome: genetic predisposition, silicone bleeding and the formation of a periprosthetic capsule. The most frequently described clinical manifestations include chronic fatigue, arthralgia, myalgia, and cognitive and sleep disorders. There is no consensus on laboratory findings and associated risk factors; recent studies propose expanding the diagnostic criteria initially described. Adequate treatment remains controversial, ranging from medications to prosthesis explantation. Although the reviewed articles suggest the existence of ASIA related to SBI, its precise pathophysiology is unknown, the symptoms reported are nonspecific, and the time between exposure and the onset of manifestations is uncertain. This systematic review concludes that, to date, there is not enough scientific evidence to establish the causality of the development of adjuvant-induced autoimmune syndrome resulting from silicone breast implants.

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Lymphedema is originated from the reduced lymphatic flow, causing a volumetric increase in the affected region and is physically and emotionally uncomfortable. Surgical intervention is considered the best treatment option as it brings both functional and aesthetic benefits. This is a report from the case of a previously healthy 45-year-old man who developed idiopathic penoscrotal giant lymphedema. A surgical approach was proposed. There was resection of scrotal lymphedema followed by a classic postectomy, suprapubic advancement flaps, and use of a partial skin graft from the right thigh. The results of the therapeutic approach were aesthetically and functionally satisfactory.

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Defeitos de orelha são frequentes e de etiologias diversas. Ainda assim, a reconstrução de orelha permanece um desafio dentro da cirurgia plástica reconstrutiva, principalmente devido a anatomia e a escassez de tecido local. Embora pouco utilizado, o retalho tubular retroauricular se apresenta como alternativa para reconstrução da hélice e lóbulo. No presente estudo os autores descrevem a técnica operatória, bem como relatam um caso em que foi utilizado. Realizou-se uma avaliação do resultado operatório de quatro casos de reconstrução de orelha utilizando o retalho tubular retroauricular, através de questionários encaminhados para avaliadores leigos e cirurgiões plásticos. O resultado estético final foi classificado como bom ou excelente por 35% dos avaliadores leigos e 50% dos cirurgiões plásticos. Já o resultado operatório foi avaliado como bom ou excelente por 70% dos leigos e 80% dos cirurgiões plásticos. Os resultados permitem concluir que a técnica do retalho tubular retroauricular para reconstrução de defeitos da borda de hélice pode ser indicada, com resultados satisfatórios.

Ear defects are frequent and result of many etiologies, even though ear reconstruction remains a challenge in plastic reconstructive surgery due to anatomy and local tissue paucity. Despite being rarely used, the tubular retroauricular flap presents as an alternative for helix and lobule reconstruction. In this article, the authors describe the operative technique and report a case in which it was used. Also, plastic surgeons and laypeople rated the operative results of four cases of ear reconstructions using the tubular retroauricular flap. The final esthetic result was rated as good or excellent by 35% of laypeople and 50% of plastic surgeons, whereas the operative result was rated as good or excellent by 70% of laypeople and 80% of plastic surgeons. Thereby the findings and authors' experience, we can recommend the tubular retroauricular flap technique for reconstructing ear helix border defects.

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INTRODUCTION: Many patients worldwide are unable to access timely primary repair of cleft lip and palate. The aim of this study was to assess patient-perceived barriers to accessing timely cleft lip and palate repair across Brazil. METHODS: A 29-item questionnaire was applied to patients undergoing surgery for cleft lip and/or palate across five contrasting sites in Brazil from February 2016 to November 2017. Differences in patient timelines, demographics, and patient-reported barriers were compared by region. A multivariate logistic regression was used to determine predictors of delayed care. RESULTS: Of 181 patients, 42% of patients received timely primary surgical repair. The age of the patient at the interview was 82 months (standard deviation [SD] 107) and 52% were male. The majority of delays occurred between diagnosis and primary surgical repair. The mean number of barriers to accessing timely surgical care cited by each patient was 3.77. The most common barrier was perceived "lack of hospitals that provided the surgery in my area" (48% (n = 86)). Univariate logistic regression showed increased odds of receiving late care in the state of Amazonas (odds ratio [OR] 2.91; 95% confidence interval [CI] 1.07-7.96; P = 0.037) or Para (OR 4.46; 95% CI 1.09-19.70; P = 0.037). Multivariate logistic regression determined predictors of delayed care to be female sex (OR = 2.05; 95% CI 1.05-3.99; P = 0.035) and perceived poor availability of care (OR = 0.045; 95% CI 1.02-4.37; P = 0.045). CONCLUSION: The majority of patients in Brazil are not receiving timely primary repair of their clefts. Improvements in the coordination of care, patient education and patient empowerment are required.

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In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM #617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto-axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.

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