Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.

BACKGROUND: In this article, we delineate a loosely selected cohort comprising patients with a history of early-onset breast cancer and/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer-related gene variants in a population from a micro-region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people. METHODS: Comprehensive next-generation sequencing (NGS) multigene panel testing was conducted on 12 patients from the region, utilizing three different library preparation methods. RESULTS: Two pathogenic variants and one candidate pathogenic variant were identified: BRCA2 c.8878C>T, p.Gln2960Ter; CHEK2 c.1100del, p.Thr367Metfs15, and BRCA2 c.3482dup, p.Asp1161Glufs3. CONCLUSION: BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported. The prevalence of pathogenic variants in this small cohort is similar to that described in the literature. All different library preparation methods were equally proficient in enabling the detection of these variants.

Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.

In this article, we delineate a loosely selected cohort comprising patients with a history of early-onset breast cancer and/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer-related gene variants in a population from a micro-region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people. Comprehensive next-generation sequencing (NGS) multigene panel testing was conducted, involving the evaluation of twelve patients. Two pathogenic variants and one candidate pathogenic variant were identified: BRCA2:c.8878C>T, p.Gln2960Ter; CHEK2:c.1100delAG>A, p.Thr367Metfs*15 and BRCA2:c.3482dupG>GA, p.Asp1161Glufs*3, a novel variant, previously unpublished, is reported.

Long-term outcomes after endovascular aortic treatment in patients with thoracic aortic diseases.

Background: Endovascular treatments for thoracic aortic diseases have been adopted rapidly, and long-term studies are relevant for durability evaluation. Objective: To evaluate the long-term results of a prospective observational study of endovascular treatment in patients with thoracic aortic diseases who underwent percutaneous implantation of self-expandable endoprostheses. Methods: Procedural success was defined as the absence of endoleak into the aneurysm or dissection-induced false lumen, no migration, and no conversion to open surgery. Intraoperative, postoperative, and late postoperative outcomes were evaluated in terms of complications, mortality, and evolution of the endoprosthesis over a follow-up of up to 179 months (median: 46 months). Results: A total of 150 endoprostheses were implanted in 112 patients. Primary success was observed in 100 (82.14%) patients. Immediate mortality occurred in 7 patients (6.25%). Late mortality occurred in 31 patients (27.68%), 10 (8.93%) of whom died from cardiovascular causes, 12 (10.71%) from non-cardiovascular causes, and 2 (1.78%) from natural causes, while 7 (6.25%) had no diagnosis for cause of death. Types I, II, and IV endoleaks occurred during hospitalization in 4 (3.57%), 5 (4.46%), and 3 (2.68%) patients, respectively. Late types I and IV endoleaks occurred in 5 (4.46%) and 3 (2.68%) patients respectively. Twenty-two patients (19.64%) had clinical complications in the immediate postoperative period. Actuarial survival free from death from cardiovascular causes was 79.3% (95% confidence interval, 67.0-91.7%) at 132 months. Conclusions: The low levels of intraoperative and postoperative complications demonstrate that endovascular treatment is safe and effective. The high rate of late survival for these critically ill patients indicates that the endovascular technique is beneficial for treatment of thoracic aortic diseases in terms of long-term outcomes.

Contexto: Os tratamentos endovasculares para doenças da aorta torácica têm sido adotados rapidamente e estudos de longo prazo são relevantes para avaliação de durabilidade. Objetivo: Avaliar através de estudo observacional e prospectivo, os resultados a longo prazo do tratamento endovascular em pacientes com doenças da aorta torácica submetidos a implante percutâneo de endoprótese autoexpansível. Métodos: O sucesso do procedimento foi definido como ausência de vazamento interno para o aneurisma ou falso lúmen induzido por dissecção, ausência de migração e sem necessidade de conversão para cirurgia aberta. Os resultados intraoperatórios, pós-operatórios e tardios foram avaliados quanto a complicações, mortalidade e evolução da endoprótese em um seguimento de até 179 meses (mediana de 46 meses). Resultados: Um total de 150 endopróteses foram implantadas em 112 pacientes. Sucesso primário foi observado em 100 (82,14%) pacientes. Mortalidade imediata ocorreu em sete pacientes (6,25%). A mortalidade tardia ocorreu em 31 pacientes (27,68%), dos quais 10 (8,93%) morreram por causas cardiovasculares; 12 (10,71%), por causas não cardiovasculares; dois (1,78%), por causas naturais e sete (6,25%) não tiveram a causa da morte diagnosticada. Vazamentos tipo I, II e IV ocorreram durante a internação em quatro (3,57%), cinco (4,46%) e três (2,68%) pacientes, respectivamente. Vazamentos tardios tipo I e IV ocorreram em cinco (4,46%) e três (2,68%) pacientes, respectivamente. Complicações clínicas no pós-operatório imediato foram observadas em 19,64% dos pacientes. A sobrevida atuarial por causas cardiovasculares foi de 79,3% em 132 meses. Conclusões: Os baixos índices de complicações intra e pós-operatórias demonstram que o tratamento endovascular é seguro e eficaz. A alta taxa de sobrevida em 132 meses em pacientes críticos indica que a técnica é benéfica para o tratamento de doenças da aorta torácica em resultados a longo prazo.

PHB Processability and Property Improvement with Linear-Chain Polyester Oligomers Used as Plasticizers.

In 2021, global petroleum-based plastic production reached over 400 million metric tons (Mt), and the accumulation of these non-biodegradable plastics in the environment is a worldwide concern. Polyhydroxybutyrate (PHB) offers many advantages over traditional petroleum-based plastics, being biobased, completely biodegradable, and non-toxic. However, its production and use are still challenging due to its low deformation capacity and narrow processing window. In this work, two linear-chain polyester oligomers were used as plasticizers to improve the processability and properties of PHB. Thermal analyses, XRD, and polarized optical microscopy were performed to evaluate the plasticizing effect on the PHB and the reflection on the mechanical behavior. Both oligomers acted as PHB plasticizers, with a reduction in Tg and Tm as a function of the plasticizer concentration, which can make it easier to handle the material in thermal processing and reduce the probability of thermal degradation. Plasticizer 2 proved to be the most promising between the two with an optimized condition of 20%, in which there was a decrease in elastic modulus of up to 72% and an increase in the maximum elongation of 467%.

Hansenapp: Development of a mobile application to assist primary healthcare providers to control leprosy.

OBJECTIVE: To describe the development and validation of a mobile application to assist health professionals in the management of patients with leprosy and surveillance of contacts in primary healthcare. METHOD: A methodological and developmental study was conducted in three phases: integrative literature review, mobile application development and application validation by health professionals. The construction of the application was supported by the literature review, Nielsen's heuristics and expert validation. Five experts individually analysed the prototype draft and performed two rounds of iterations to refine their recommendations. The validation step was performed by consulting health professionals working in primary healthcare, who evaluated the application for relevance, clarity and usability using a questionnaire based on task-technology fit theory. RESULTS: The mobile app's content, navigation methods and interaction were refined based on the discussions with experts. Their recommendations were applied, and the mobile app was revised until the final version was approved. Content validity indexes of 0.94 (p = 0.007), 0.99 (p > 0.0001) and 0.93 (p = 0.01) were obtained. CONCLUSION: The developed application is a technological tool that could assist primary healthcare providers in dealing with leprosy patients and their contacts in terms of management, planning, monitoring, evaluation, treatment and follow-up, in addition to leprosy control actions.

Comparison between semitendinosus transfer to distal femur and medial hamstrings surgical lengthening for treatment of flexed knee gait in cerebral palsy.

PURPOSE: Hamstrings surgical lengthening (HSL) has been frequently used for the treatment of flexed knee gait in cerebral palsy; however, recurrence of knee flexion deformity (KFD) and increase of anterior pelvic tilt (APT) were reported in a long-term follow-up. RESEARCH QUESTION: The aim of this study was to compare semitendinosus transfer to distal femur (STTX) and semitendinosus surgical lengthening (STL) regarding the reduction of KFD and the increase of APT after flexed knee gait treatment. METHODS: One hundred and eleven patients were evaluated and they were divided into two groups according to surgical procedures at knees: group A (65 patients/130 knees), including patients who received medial HSL as part of multilevel approach; group B (46 patients/92 knees), represented by patients who underwent orthopedic surgery including an STTX instead of STL. RESULTS: Fixed knee flexion deformity (FKFD) decreased only in group B (from 6.79° to 2.96°, p < 0.001) after intervention. In kinematics, APT increased from 16.38° to 19.03° in group A (p = 0.003), while group B also increased from 15.26° to 20.59° (p < 0.001). The minimum knee flexion in stance phase (MKFS) reduced from 25.34° to 21.65° (p = 0.016) in group A and from 31° to 19.57° (p < 0.001) in group B. In the comparison between groups A and B, the increase of APT (p = 0.028) and reduction of FKFD (p < 0.001), popliteal angle (p = 0.001), bilateral popliteal angle (p = 0.003) and MKFS (p = 0.006) were higher after STTX than STL. CONCLUSION: In the present study, patients who received STTX exhibited more improvement of knee extension at clinical examination and during gait than those who underwent to STL; however, STTX was not effective to prevent the increase of APT after flexed knee gait treatment.

Surgical Treatment for Thrombus Straddling a Patent Foramen Ovale.

We present a case of a 41-year-old female with deep vein thrombosis after abdominal surgery. The patient quickly developed severe pulmonary embolism and stroke representative of paradoxical embolism. Echocardiography showed a thrombus straddling a patent foramen ovale, which was confirmed intraoperatively. An accurate diagnosis and rapid treatment decisions are crucial for preventing patient deterioration in the form of new pulmonary embolisms or stroke.

The calcium paradox - what should we have to fear?

The calcium paradox was first mentioned in 1966 by Zimmerman et al. Thereafter gained great interest from the scientific community due to the fact of the absence of calcium ions in heart muscle cells produce damage similar to ischemia-reperfusion. Although not all known mechanisms involved in cellular injury in the calcium paradox intercellular connection maintained only by nexus seems to have a key role in cellular fragmentation. The addition of small concentrations of calcium, calcium channel blockers, and hyponatraemia hypothermia are important to prevent any cellular damage during reperfusion solutions with physiological concentration of calcium.

New method of preoperative immobilization for the proximal femoral fractures.

OBJECTIVE: To evaluate the efficacy of a new method of provisional preoperative imobilization for patientes with transtrochanteric femoral fractures. METHODS: Over a three-month period, 33 patients were treated at the Orthopaedic Trauma Service for transtrochanteric femoral fracture. We selected 22 patients and they were divided into groups with and without the use of the developed imobilization. The patients were evaluated according to the Visual Analogue Scale for Pain (VAS) during the preoperative and postoperative period in order to verify the analgesic consume and clinical complications. RESULTS: The group that used the imobilization had lower pain, reduced analgesic consume and had less clinical complications. CONCLUSION: The new imobilization therefore presents good results, however not statistical significant. Level of Evidence II, Prospective Comparative Study.

Does the level of proximal femur rotation osteotomy influence the correction results in patients with cerebral palsy?

Proximal femur external rotation osteotomy is a common procedure used for the correction of increased femur anteversion and hip internal rotation in cerebral palsy (CP). Different levels of osteotomy have been used at the proximal femur, but there are no studies in the literature comparing the results in CP. Patients with spastic CP, Gross Motor Function Classification System (GMFCS) I-III, who had undergone a femoral rotational osteotomy from August 1998 to August 2007, and with complete documentation at gait laboratory were included in the study. Patients were divided into two groups according to the level of osteotomy at the proximal femur. Group A [Dynamic Compression Plate (DCP) group] included 24 patients (36 osteotomies), and the osteotomy in this group was performed below the lesser trochanter. In Group B (Blade Plate group), 29 patients (35 osteotomies) were included and the level of osteotomy was above the lesser trochanter. Age at surgery, sex distribution, follow-up time, previous surgical procedures, surgical procedures performed in the same session as femur osteotomy, GMFCS level, topographic classification, clinical findings (internal and external hip rotation, and femur anteversion), and hip rotation at kinematics were analyzed and the results were compared between groups. Groups A and B were matched in terms of the sex distribution, follow-up time, GMFCS levels, and severity of clinical findings and hip internal rotation at kinematics before surgery. The mean age of the patients at surgery was 9.24 years in group A and 12 years in group B, and this difference was significant on performing statistical analysis (P=0.004). The number of patients who had undergone previous hip adductors' tenotomy was higher in group B (P=0.036). Improvements in clinical and kinematics parameters were observed in both groups after femur osteotomy (P<0.001). The increase in hip external rotation at clinical examination and the reduction in hip internal rotation at kinematics did not show differences between groups A and B on performing statistical analysis. However, reduction of femoral anteversion (P=0.032) and hip internal rotation (P=0.002) were more remarkable in group B. In conclusion, reduction of hip internal rotation and femur anteversion at physical examination were more significant in patients with intertrochanteric osteotomies; however, improvement in kinematics was observed in both groups after surgical procedures.

Outcomes of correction of internal hip rotation in patients with spastic cerebral palsy using proximal femoral osteotomy.

Internal hip rotation (IHR) is the major cause of intoeing gait in patients with cerebral palsy (CP). Femoral derotation osteotomy (FDO) is the preferred treatment to correct excessive anteversion, however the condition may persist or recur postoperatively. Retrospective clinical and kinematic evaluation of 75 spastic diplegic CP patients was conducted for a mean duration of 22 months following proximal FDO. The patients were divided into two groups depending on the correction or persistence of IHR evident at kinematics after surgery. If corrected, mean patient follow-up was extended to 53 months. Outcomes were analyzed using Two Proportions Equality, Mann-Whitney and Wilcoxon tests. IHR persisted in 33.3% of cases at mean follow-up of 22 months and subtrochanteric femur osteotomy was more frequent in this group (p=0.033). Thirty-five of the fifty-four patients with first-round gait correction were monitored during the extended follow-up. Those for whom IHR recurred (9.5%) had undergone FDO at a comparatively younger age. Patient gender, operations prior to or at the time of femoral osteotomy, topographic classification, GMFCS level, or the extent of preoperative clinical and kinematic abnormalities had no apparent influence on persistence or recurrence of abnormal gait.