Esophagogastric junction outflow obstruction successfully treated with laparoscopic Heller myotomy and Dor fundoplication : first case report in the literature

BACKGROUND Esophagogastric junction outflow obstruction (EGJOO) is a rare syndrome, characterized by an elevation of the integrated relaxation pressure of the lower esophageal sphincter, not accompanied by alterations in esophageal motility that may lead to the criteria for achalasia. We were unable to find any prior report of the combination of Heller myotomy with anterior partial fundoplication (Dor) as the treatment for EGJOO. We herein report a case of EGJOO treated with laparoscopic Heller myotomy combined with Dor fundoplication. CASE SUMMARY A 26-year-old man presented with a 3-year history of solid dysphagia and a 30-kg weight loss. He was treated with oral nifedipine, isosorbide, and omeprazole, without resolution of symptoms. An upper gastrointestinal series (barium swallow) revealed a “bird’s beak” sign. Esophagogastroduodenoscopy was positive for Los Angeles grade A peptic esophagitis. High-resolution esophageal manometry was compatible with EGJOO. Esophageal pH monitoring showed pathological acid reflux both in orthostatic and decubitus position. An 8-cm laparoscopic Heller myotomy combined with an anterior 220° Dor fundoplication was performed. Solid diet was introduced on postoperative day 2, and the patient was discharged home the same day. At 17-mo follow-up, he reported no symptoms. Barium swallow was compatible with complete radiologic resolution. Both esophageal manometry and upper endoscopy showed normal findings 9 mo after the operation. CONCLUSION Surgical treatment with Heller myotomy and Dor fundoplication is a potential treatment option for EGJOO refractory to medical treatment

Pré-eclâmpsia : rastreamento universal ou prevenção universal para países de baixa e média-renda?

Pre-eclampsia (PE) is a severe disorder that affects up to 8% of all pregnancies and represents an important cause of maternal and perinatal morbidity and mortality. The screening of the disease is a subject of studies, but the complexity and uncertainties regarding its etiology make this objective a difficult task. In addition, the costs related to screening protocols, the heterogeneity of the most affected populations and the lack of highly effective prevention methods reduce the potential of current available algorithms for screening. Thus, the National Specialized Commission of Hypertension in Pregnancy of the Brazilian Association of Gynecology and Obstetrics Federation (Febrasgo, in the Portuguese acronym) (NSC Hypertension in Pregnancy of the Febrasgo) considers that there are no screening algorithms to be implemented in the country to date and advocates that Aspirin and calcium should be widely used.A Pré-eclâmpsia (PE) é uma doença grave que acomete ~8% das gestações e representa importante causa de morbimortalidade, tanto materna quanto perinatal. O rastreamento da doença émotivo de estudos, porém a complexidade e as incertezas quanto a sua etiologia tornam esse objetivo bastante difícil. Além disso, os custos relacionados com o rastreamento, a heterogeneidade das populações mais afetadas e ainda a falta de métodos de prevenção de grande eficácia reduzem o potencial dos algoritmos de rastreamento. Assim, a Comissão Nacional Especializada sobre Hipertensão na Gravidez da Federação Brasileira das Associações de Ginecologia e Obstetrícia (CNE Hipertensão na Gravidez da FEBRASGO) considera que não há algoritmos de rastreamento que possam ser aplicados no país nesse momento e defende a utilização dos métodos de prevenção como ácido acetilsalicílico e cálcio de maneira ampla

Análise dos pacientes com Câncer Renal no Hospital Geral de Fortaleza no período de 2017 a 2022

Introdução: Dentre as neoplasias urológicas, o câncer de rim é considerado o mais letal, com 17% dos pacientes apresentando metástase a distância no momento do diagnóstico e aproximadamente 40% dos pacientes morrendo devido à progressão da doença. Objetivo: Analisar o perfil clínico e epidemiológico dos pacientes diagnosticados com câncer renal submetidos a nefrectomia radical ou parcial no Hospital Geral de Fortaleza no período de julho de 2017 a junho de 2022. Método: Coorte retrospectivo utilizando dados secundários disponibilizados pelo Departamento de Estatística do Hospital e análise de prontuários médicos. Resultados: Foram analisados 102 procedimentos cirúrgicos, dos quais 63,1 % corresponderam a nefrectomia radical e 30,1% nefrectomia parcial. A proporção entre homens e mulheres foi de 1,5:1. Houve predomínio de incidência na sexta e sétima década de vida. A maioria dos pacientes foram tratados em estágios iniciais da doença, com 60% apresentando estadio I ao diagnóstico. O subtipo histológico mais comum foi o carcinoma renal de células claras. As complicações pós-operatórias foram raras. Conclusão: O presente trabalho apresentou resultados similares aos apresentados nos estudos epidemiológicos mais recentes a respeito das neoplasias renais. Estudos retrospectivos como este podem contribuir para a compreensão das características dos pacientes portadores de câncer renal atendidos no estado do Ceará

Pré-eclâmpsia/Eclâmpsia

Pre-eclampsia is a multifactorial and multisystemic disease specific to gestation. It is classically diagnosed by the presence of hypertension associated with proteinuria manifested in a previously normotensive pregnant woman after the 20th week of gestation. Pre-eclampsia is also considered in the absence of proteinuria if there is target organ damage. The present review takes a general approach focused on aspects of practical interest in the clinical and obstetric care of these women. Thus, it explores the still unknown etiology, current aspects of pathophysiology and of the diagnosis, the approach to disease prediction, its adverse outcomes and prevention. Management is based on general principles, on nonpharmacological and on pharmacological clinical treatment of severe or nonsevere situations with emphasis on the hypertensive crisis and eclampsia. Obstetric management is based on preeclampsia without or with signs of clinical and/or laboratory deterioration, stratification of gestational age in < 24 weeks, between 24 and less than 34 weeks, and ≥ 34 weeks of gestation, and guidance on route of delivery. An immediate puerperium approach and repercussions in the future life of pregnant women who develop preeclampsia is also presented.A pré-eclâmpsia é uma doença multifatorial e multissistêmica específica da gestação. É classicamente diagnosticada pela presença de hipertensão arterial associada à proteinúria em gestante previamente normotensa após a 20a semana de gestação. A pré-eclâmpsia também é considerada na ausência de proteinúria se houver lesão de órgão-alvo. A presente revisão tem uma abordagem geral focada em aspectos de interesse prático na assistência clínica e obstétrica dessas mulheres. Assim, explora a etiologia ainda desconhecida, aspectos atuais da fisiopatologia e do diagnóstico e diagnóstico diferencial de convulsões, a abordagem da predição da doença, seus resultados adversos e prevenção. A conduta baseia-se em princípios gerais, tratamento clínico não farmacológico e farmacológico de situações graves ou não graves, com ênfase na crise hipertensiva e eclâmpsia. O controle obstétrico se fundamenta na pré-eclâmpsia sem ou com sinais de deterioração clínica e/ou laboratorial, estratificação da idade gestacional abaixo de 24 semanas, entre 24 e menos de 34 semanas e 34 ou mais semanas de gestação e orientação na via de parto. Uma abordagem imediata do puerpério e repercussões na vida futura de gestantes que desenvolvem pré-eclâmpsia também foram apresentadas

Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea

ABSTRACTPendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite diagnosis requires molecular analysis. Our study illustrates the value and challenges of mutational analysis in selected patients with PS. __________________________________________________________________________________ RESUMOA syndrome de Pendred (SP) é uma doença autossômica recessiva caracterizada por surdez neurossensorial, bócio e defeito de organificação do iodo. A perda auditiva está associada a anormalidades do ouvido interno, desde a dilatação isolada do aqueduto vestibular (DAV) até uma típica displasia coclear. Mutações no gene que codifica a pendrina (SLC26A4), um transportador de cloreto/iodeto, têm sido associadas à SP. Descrevemos as características clínicas e moleculares de uma grande família consangüínea portadora de uma mutação no gene SLC26A4. O caso-índice era uma paciente do sexo feminino, brasileira, 26 anos, portadora de surdez congênita, que apresentava um volumoso bócio multinodular e hipotireoidismo desde a puberdade. Outros cinco irmãos eram surdos: um irmão tinha fenotipo semelhante, três também tinham bócio, porém com função tiroideana normal e um irmão tinha apenas um discreto aumento da tiróide. Outros quatro irmãos não apresentavam alteração tiroideana ou auditiva. Os pais eram primos de primeiro grau e tinham audição normal. A mãe era saudável, exceto por hipotireoidismo subclínico; o pai era falecido. O teste do perclorato no caso-índice revelou a liberação de 21% do iodo incorporado duas horas após a administração de 1 g de KClO4. Os exames audiológicos mostraram perda auditiva profunda em todos os indivíduos afetados; TC e RMN dos ossos temporais mostraram DAV em todos eles. O DNA genômico foi isolado do sangue total dos seis irmãos afetados e dos quatro não-afetados, da mãe e do controle. A região codificante do gene PDS (éxons 2-21), incluindo as junções éxon/íntron, foram amplificadas por PCR e seqüenciadas. Foi detectada a deleção de uma base (T) na posição 1197 do éxon 10, em homozigoze, nos seis irmãos afetados. A mãe e dois irmãos não-afetados eram heterozigotos para a mutação, que foi descrita inicialmente por Everett e cols. A mutação 1197delT provavelmente resulta em um erro de fase de leitura (frameshift) e em uma proteína truncada. A existência de fenocópias da SP e a variabilidade fenotípica intrafamiliar são bem conhecidas. O diagnóstico definitivo requer análise molecular. O presente estudo ilustra o valor e os desafios da análise mutacional em pacientes selecionados com SP

Evaluation Of The Overload Of Care In Families Of Psychiatric Patients In Psychosocial Care Center

Introduction: The burden of care in family refers to the weight caused by the primary caregiver role to psychiatric patients and the difficulties encountered in performing this function in daily life. Objectives: Assessing the objective and subjective overload of family members who live with the reality of psychiatric disorder in a child day-care psychosocial care center. Methods: Cross-sectional study, descriptive-exploratory, of quantitative approach, with non-probabilistic samples of accidental type with 80 families of psychiatric patients held in a Psychosocial Care Center. For overload evaluation, the subscales "B" and "D" of the Family Overload Rating Scale (FBIS-BR) were used. Results: The study was conducted with 80 families of psychiatric patients. The average age of female caregivers was 39,6 years old, and 40,7 years old for male caregivers, with female predominance (87,5%) compared to men (12,5%), with low education for both genres. Family caregivers presented high objective burden due to excessive demand attention (p&lt;0,001), heteroaggressiveness (p&lt;0,001) and perplexing behavior of psychiatric patients regarding the supervision of problematic behaviors (p&lt;0,001). The items on the impact on the family's daily routine have not helped to generate objective overload for the family members. On subjective overload, it was clear to observe familiar members with high degree of disturbance in all the dimensions assessed (p &lt; 0,001). Conclusion: The high degree of care overload observed in family members indicates the need to develop contacts with the family of the psychiatric patient to answer questions, offer support and assistance to the family caregiver. Keywords: Caregivers. Patients. Mental Health Services

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio