Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

In Romania, breast cancer (BC) is the most common malignancy in women. However, there is limited data on the prevalence of predisposing germline mutations in the population in the era of precision medicine, where molecular testing has become an indispensable tool in cancer diagnosis, prognosis, and therapeutics. Therefore, we conducted a retrospective study to determine the prevalence, mutational spectrum, and histopathological prediction factors for hereditary breast cancer (HBC) in Romania. A cohort of 411 women diagnosed with BC selected upon NCCN v.1.2020 guidelines underwent an 84-gene NGS-based panel testing for breast cancer risk assessment during 2018-2022 in the Department of Oncogenetics of the Oncological Institute of Cluj-Napoca, Romania. A total of 135 (33%) patients presented pathogenic mutations in 19 genes. The prevalence of genetic variants was determined, and demographic and clinicopathological characteristics were analyzed. We observed differences among BRCA and non-BRCA carriers regarding family history of cancer, age of onset, and histopathological subtypes. Triple-negative (TN) tumors were more often BRCA1 positive, unlike BRCA2 positive tumors, which were more often the Luminal B subtype. The most frequent non-BRCA mutations were found in CHEK2, ATM, and PALB2, and several recurrent variants were identified for each gene. Unlike other European countries, germline testing for HBC is still limited due to the high costs and is not covered by the National Health System (NSH), thus leading to significant discrepancies related to the screening and prophylaxis of cancer.

Microcystic/reticular schwannoma of the pancreas: a potential diagnostic pitfall.

Schwannomas occurring in the pancreatic head are rare benign non-recurring mesenchymal neoplasms and are reported to show classic morphologic features. Herein we report a case of a 62 year old male presenting with a 5 cm mass in the pancreatic head encasing the portal vein and the truncus coeliacus. Preoperative fine needle aspiration revealed malignant tumour cells consistent with a moderately differentiated adenocarcinoma. A Whipple surgery was performed after palliative chemotherapy. Histological evaluation revealed a multinodular unencapsulated tumour with focal infiltration into pancreas parenchyma and a striking microcystic/reticular growth pattern. Anastomosing and intersecting strands of spindle cells with eosinophilic cytoplasm set in a myxoid partly collagenous stroma were observed. The tumour cell nuclei were round oval and tapered and showed inconspicuous small nucleoli. Degenerative nuclear atypia was seen. Mitotic activity was sparse (1/50 HPF). Pleomorphism or necrosis was absent. The tumour cells showed strong nuclear and cytoplasmic positivity for S-100 protein, and focal positivity for glial fibrillary acidic protein. The diagnosis of a microcystic/reticular schwannoma was made. The awareness of and, to some extent, the knowledge about this rare tumour are needed to achieve the correct diagnosis and to avoid confusion, especially with malignant pancreatic neoplasms.

Peer relationships of deaf children with cochlear implants: predictors of peer entry and peer interaction success.

This study investigated factors that affect the development of positive peer relationships among deaf children with cochlear implants. Ten 5- to 6-year-old deaf children with implants were observed under conditions varying peer context difficulty in a Peer Entry task. Results revealed better outcomes for deaf children interacting in one-on-one situations compared to interactions including two other hearing children and better performance among girls than boys. In addition, longer duration of implant use and higher self-esteem were associated with better performance on the Peer Task, which was in turn related to parental reports of children's social functioning outside the experimental situation. These findings contribute to the growing literature describing the benefits of cochlear implantation in the areas of communication and socialization, while pointing to interventions that may enhance deaf children's social competence.

Incidence, risk factors, prognosis, and health-related quality of life after stroke in a low-resource community in Chile (ÑANDU): a prospective population-based study.

BACKGROUND: Stroke is a leading cause of disability and death worldwide. The best estimates of local, national, and global burden of stroke are derived from prospective population-based studies. We aimed to investigate the incidence, risk factors, long-term prognosis, care, and quality of life after stroke in the Ñuble region of Chile. METHODS: We did a prospective community-based study with use of multiple overlapping sources of hospitalised, ambulatory, and deceased cases. Standardised diagnostic criteria were used to identify and follow up all cases occurring in the resident population of the Ñuble region, Chile (in a low-income rural-urban population including predominantly people of Indigenous-European heritage), for 1 year. Participants were included if they had a clinical diagnosis of stroke confirmed according to the study criteria. All cases were adjudicated by vascular neurologists. Incidence rates of first-ever stroke were calculated from the population of Ñuble according to the 2017 national census. FINDINGS: From April 1, 2015, to March 31, 2016, we ascertained 1103 stroke cases, of which 890 (80·7%) were first-ever incident cases. The mean age of patients with first-ever stroke was 70·3 years (SD 14·1) and 443 (49·8%) were women. A CT scan was obtained in 801 (90%) of 890 patients (mean time from symptom onset to scan of 13·4 h (SD 29·8). The incidence of first-ever stroke age-adjusted to the world population was 121·7 (95% CI 113·7-130·1) per 100 000. The age-adjusted incidence rates, per 100 000 inhabitants, by main pathological subtypes were as follows: ischaemic stroke (101·5 [95% CI 90·9-113·0]); intracerebral haemorrhage (17·9 [13·5-23·4]), and subarachnoid haemorrhage (4·2 [2·1-7·3]). The 30-day case-fatality rate was 24·6% (21·9-27·6). At 6 months after the stroke, 55·9% (432 of 773) of cases had died or were disabled, which increased to 61·0% (456 of 747) at 12 months. Health-related quality of life in survivors was low at 6 months, improving slightly at 12 months after the stroke. INTERPRETATION: The incidence of stroke in this low-resource population was higher than our previous finding in northern Chile and within the mid-range of most population-based stroke studies. This result was due mainly to a higher incidence of ischaemic stroke, probably associated with increasing age and a high prevalence of cardiometabolic risk factors in the population studied. Our findings suggest that more should be done for the prevention and care of stroke in communities like the Ñuble population. FUNDING: The National Agency for Research and Development and the Technology-Health Research Fund, Clínica Alemana de Santiago, Boehringer Ingelheim, Bristol Meyers Squibb, The Herminda Martin Clinical Hospital of Chillán, Universidad Mayor, and Universidad de Concepción.

Water-based aerobic and combined training in elderly women: Effects on functional capacity and quality of life.

This study aimed to investigate the effects of two water-based training programs (aerobic and combined) and a non-periodized physical activity program on functional capacity and quality of life (QoL) of elderly women. Forty-one elderly female volunteers (65 ±â€¯4 years) were divided into three groups: aerobic training group (WBA, n = 13), combined training (sequence: resistance/aerobic; WBC; n = 11) and a control group of non-periodized physical activity program (CG, n = 9). The participants performed the water-based trainings twice a week for 12 weeks. The resistance training sets were performed at maximal effort and the aerobic training was performed in the percentage of the heart rate corresponding to the anaerobic threshold (85-110%) determined in an aquatic progressive test. Assessments of QoL perception (WHOQOL-BREF) and functional tests 30-Second Chair Stand, 6-Minute Walk and 8-Foot Up-and-go were performed before and after training. The data were analyzed using Generalized Estimating Equations (GEE), and Bonferroni post-hoc test (α = 0.05). In CG, QoL perception in the physical domain decreased (12 ±â€¯10%) and there was no difference in the other domains. On the other hand, QoL perception was significantly increased in the water-based training groups after the training period in the physical (WBC: 13 ±â€¯16%), psychological (WBA: 9 ±â€¯16%; WBC: 10 ±â€¯11%), social relationships (WBA: 19 ±â€¯42%; WBC: 16 ±â€¯21%) and environmental (WBA: 10 ±â€¯17%; WBC: 16 ±â€¯28%) domains and overall QoL (WBA: 17 ±â€¯22%). No significant difference was observed in the physical domain for WBA and in the overall for WBC. Significant improvements were observed for all groups in the functional tests 30-Second Chair Stand (WBA: 32 ±â€¯11%; WBC: 24 ±â€¯14%; CG: 20 ±â€¯9), 6-Minute Walk (WBA: 10 ±â€¯7%; WBC: 7 ±â€¯6%; CG: 7 ±â€¯5%) and 8-Foot Up-and-go (WBA: 11 ±â€¯5%; WBC: 10 ±â€¯9%; CG: 10 ±â€¯6%). Based on the results observed in this study, it can be concluded that both water-based trainings (aerobic and combined) are effective in improving functional capacity and QoL perception of elderly women. Although non-periodized physical activities seem to be sufficient to positively modify the functional capacity of this population, they are not efficient in improving QoL perception.

Superior left atrial approach to the mitral valve: incidence of postoperative arrhythmia.

BACKGROUND AND AIM OF THE STUDY: The superior left atrial approach to mitral surgery involves exposure of the mitral valve through a longitudinal, craniocaudally orientated incision in the roof of the left atrium. The study aim was to evaluate the incidence of postoperative arrhythmias following this procedure. METHODS: Fifty-nine patients underwent either mitral valve repair (n = 20), mitral valve replacement (n = 26) or an associated procedure (n = 13), including aortic valve replacement, coronary artery bypass grafting and atrial septal defect closure. Eight patients had undergone previous surgery on the mitral valve. Patients were classified according to their preoperative rhythm: sinus rhythm (SR), paroxysmal or chronic atrial fibrillation (AF), or permanent pacing. Changes in cardiac rhythm were evaluated postoperatively, after four weeks, and at late follow up (mean 23.8 months). RESULTS: Preoperatively, 24 patients had shown SR, 10 had paroxysmal AF, 24 had chronic AF, and one patient had permanent pacing. At the time of discharge, SR was recorded in 18 patients who had SR preoperatively, in seven who had paroxysmal AF preoperatively, and in one patient who had chronic AF preoperatively. At follow up, SR was seen in 19 patients with preoperative SR, in seven with paroxysmal AF preoperatively, and in two with chronic AF preoperatively. Four patients received permanent pacemakers postoperatively due to total heart block or bradycardia. CONCLUSION: The superior left atrial approach to mitral valve surgery appears to be safe as it maintains the sinus rhythm in a high proportion of patients postoperatively. In addition, it is not normally prone to technical complications.

CDX2-driven leukemogenesis involves KLF4 repression and deregulated PPARγ signaling.

Aberrant expression of the homeodomain transcription factor CDX2 occurs in most cases of acute myeloid leukemia (AML) and promotes leukemogenesis, making CDX2, in principle, an attractive therapeutic target. Conversely, CDX2 acts as a tumor suppressor in colonic epithelium. The effectors mediating the leukemogenic activity of CDX2 and the mechanism underlying its context-dependent properties are poorly characterized, and strategies for interfering with CDX2 function in AML remain elusive. We report data implicating repression of the transcription factor KLF4 as important for the oncogenic activity of CDX2, and demonstrate that CDX2 differentially regulates KLF4 in AML versus colon cancer cells through a mechanism that involves tissue-specific patterns of promoter binding and epigenetic modifications. Furthermore, we identified deregulation of the PPARγ signaling pathway as a feature of CDX2-associated AML and observed that PPARγ agonists derepressed KLF4 and were preferentially toxic to CDX2+ leukemic cells. These data delineate transcriptional programs associated with CDX2 expression in hematopoietic cells, provide insight into the antagonistic duality of CDX2 function in AML versus colon cancer, and suggest reactivation of KLF4 expression, through modulation of PPARγ signaling, as a therapeutic modality in a large proportion of AML patients.

Rendimiento masticatorio y nivel de satisfacción de pacientes tratados con prótesis totales en la Universidad Mayor / Masticatory performance and satisfaction level in patients treated with complete dentures

Se realizó un estudio para medir y comparar el rendimiento masticatorio empleando el Test de Manly en 2 grupos de 18 individuos cada uno. El primer grupo estaba conformado por pacientes desdentados totales tratados en la Universidad Mayor en el año 2012 con prótesis totales removibles, y el segundo grupo, por pacientes con dentadura natural completa. Además, al grupo de pacientes rehabilitados con prótesis totales se le aplicó la encuesta GOHAI para conocer el nivel de satisfacción con el uso de sus prótesis. Los resultados muestran que el rendimiento masticatorio es muy superior en los individuos dentados naturales con respecto a los portadores de prótesis totales, y esta diferencia es estadísticamente significativa. Los pacientes portadores de prótesis totales señalan un bajo nivel de satisfacción con el uso de sus dentaduras completas, en especial durante la función masticatoria.

This study was conducted in order to measure and compare the masticatory performance using the Manly Test in 2 groups of 18 people. The first group was formed by edentulous patients treated in the Universidad Mayor of Santiago, Chile, in 2012 with removable dentures, and the second group consisted of patients with complete natural dentition. In addition, the GOHAI questionnaire was also applied to determinate the level of satisfaction of the group of patients rehabilitated with complete dentures. The results showed that masticatory performance is much higher in individuals with complete natural dentition than in patients rehabilitated with complete dentures, with the difference being statistically significant. Patients with dentures indicated a low level of satisfaction with the use of their complete dentures, especially during masticatory function.

Eletromiográfia do reto femoral em diferentes equipamentos proprioceptivos no meio aquático / Eletromyography of the rectus femoris in different proprioceptive devices in a hydrotherapy pool / Electromiografía del recto femoral en diferentes equipamientos propioceptivos en el medio acuático

INTRODUÇÃO: A propriocepção é uma variável imprescindível para prevenção e reabilitação das lesões do joelho, podendo ser estimulada por diferentes equipamentos, os quais ainda não foram testados em meio aquático. OBJETIVO: Avaliar a atividade eletromiográfica (EMG) do músculo reto femoral de atletas no meio aquático frente a três diferentes equipamentos proprioceptivos (cama elástica, disco proprioceptivo e balancim). MÉTODOS: A amostra foi composta por dez jogadores de futsal profissional, sem histórico de lesões musculoesqueléticas (últimos três meses), com 23,1 (±1,5) anos e índice de massa corporal 25,2 (±0,5) kg/m². A aquisição do sinal EMG do reto femoral do membro dominante foi adquirido por eletrodos de superfície, aproximadamente 2,5 cm da posição distal do ponto motor. O nível da água foi ajustado individualmente (entre a região umbilical e o processo xifoide) e a temperatura mantida a 32 °C. As avaliações compreenderam o repouso, a contração voluntária máxima (CVM) antes e depois dos experimentos e os estímulos proprioceptivos (cama elástica, disco proprioceptivo e balancim) em apoio unipodal. Os dados (média ± erro padrão) foram comparados pelo teste-t pareado e pela ANOVA para medidas repetidas seguida de teste Bonferrroni (post hoc). RESULTADOS: A EMG da CVM antes (221,0 ± 134 RMS/µVolts) e depois (243,0 ± 154,0 RMS/µVolts) foi semelhante (p = 0,129). No meio aquático, a cama elástica, o balancim e o disco apresentaram respectivamente 24,5 (±4,3), 33,9 (±4,3) e 32,5 (±6,7) %CVM. A atividade EMG do reto femoral na cama elástica foi 8% menor que o balancim e 9,5% que o disco proprioceptivo (p < 0,001). CONCLUSÃO: ...

INTRODUCTION: Proprioception is an essential variable for prevention and rehabilitation of knee injuries and can be stimulated by different equipment, which have not yet been tested in water. OBJECTIVE: To evaluate the electromyographic (EMG) activity of the rectus femoris muscle of athletes in aquatic environment using three different proprioceptive equipment (trampoline, balance disc and rocker board). METHODS: The sample comprised ten professional futsal players with no history of musculoskeletal injuries (last three months), with 23.1 (±1.5) years old and body mass index of 25.2 (±0.5) kg/m². The EMG of the rectus femoris of the dominant member was acquired by placing surface electrodes approximately 2.5cm from the distal position of the motor point. The water level was individually adjusted (between the umbilical region and the xiphoid process) and the temperature was maintained at 32ºC. The evaluations included rest, maximum voluntary contraction (MVC) before and after the experiments and proprioceptive stimuli (trampoline, balance disc and rocker board) in one leg. The data (mean ± standard error) were compared by paired t-test and ANOVA for repeated measures followed by Bonferroni post-hoc test. RESULTS: The EMG of MVC before (221.0 ± 134 RMS/µVolts) and after (243.0 ± 154.0 RMS/µVolts) were similar (p=0.129). In the aquatic environment, the trampoline, the rocker board and the balance disc showed respectively 24.5 (±4.3), 33.9 (±4.3) and 32.5 (±6.7) %CVM. The EMG activity of the rectus femoris muscle in the trampoline was 8% lower than the rocker board and 9.5% than the balance disc (p<0.001). CONCLUSION: In the aquatic environment proprioceptive equipment promote the activation of the rectus femoris muscle. However, the trampoline has lower activity than the disc and the rocker board, suggesting that this equipment should be employed at the beginning ...

INTRODUCCIÓN: La propiocepción es una variable imprescindible para prevención y rehabilitación de las lesiones de la rodilla, pudiendo ser estimulada por diferentes equipamientos, los que aún no fueron probados en medio acuático. OBJETIVO: Evaluar la actividad electromiográfica (EMG) del músculo recto femoral de atletas en el medio acuático frente a tres diferentes equipamientos propioceptivos (cama elástica, disco propioceptivo y balancín). MÉTODOS: La muestra fue compuesta por diez jugadores de futsal profesional, sin historial de lesiones musculoesqueléticas (últimos tres meses), con 23,1 (±1,5) años e índice de masa corporal 25,2 (±0,5) kg/m². La adquisición de la señal EMG del recto femoral del miembro dominante fue adquirida por electrodos de superficie, aproximadamente 2,5 cm de la posición distal del punto motor. El nivel del agua fue ajustado individualmente (entre la región umbilical y el proceso xifoide) y la temperatura mantenida a 32 °C. Las evaluaciones comprendieron el reposo, la contracción voluntaria máxima (CVM) antes y después de los experimentos y los estímulos propioceptivos (cama elástica, disco propioceptivo y balancín) en apoyo unipodal. Los datos (promedio ± error estándar) fueron comparados por el test-t apareado y por ANOVA para medidas repetidas seguida de test Bonferrroni (post hoc). RESULTADOS: La EMG de la CVM antes (221,0 ± 134 RMS/µVolts) y después (243,0 ± 154,0 RMS/µVolts) fueron semejantes (p = 0,129). En el medio acuático, la cama elástica, el balancín y el disco presentaron respectivamente 24,5 (±4,3), 33,9 (±4,3) y 32,5 (±6,7) %CVM. La actividad EMG del recto femoral en la cama elástica fue 8% menor que el balancín y 9,5% que el disco propioceptivo (p < 0,001). ...

Longitudinal improvements in communication and socialization of deaf children with cochlear implants and hearing aids: evidence from parental reports.

BACKGROUND: Research has shown that the cochlear implant may improve deaf children's speech and communication skills. However, little is known about its effect on children's ability to socialize with hearing peers. METHODS: Using a standardized psychological measure completed by parents and a longitudinal design, this study examined the development of communication, socialization, and daily living skills of children who used hearing aids or cochlear implants for an average of 11 and 6 years, respectively. RESULTS: Results show that children with cochlear implants, who were more delayed than children with hearing aids at the outset, made significant progress over time. Children with both devices achieved age-appropriate development after years of hearing aid or cochlear implant use. CONCLUSIONS: The pattern of results suggests that cochlear implants may be effective in improving deaf children's communication and social skills.

Avaliação da força muscular e ativação pressórica do assoalho pélvico de mulheres climatéricas com incontinência urinária de esforço / Assessment of muscle strength and pressure activation of pelvic floor

Comparar os valores obtidos de força muscular do assoalho pélvico em mulheres com incontinência urinária de esforço, entre os grupos de força muscular 1 (menor força) e 2 (maior força), com os resultados do questionário de qualidade de vida e anamnese, bem como descrever os valores de ativação pressórica atingidos através do biofeedback. Métodos: Estudo transversal com 70 mulheres com incontinência urinária, divididas em 2 grupos, de acordo com a força muscular obtida, 40 mulheres no grupo 1(menor força) e 30 no grupo 2 (maior força). Todas as mulheres com diagnóstico prévio de incontinência urinária de esforço, no período do climatério. Foram excluídas pacientes com problemas neurológicos e grávidas. As pacientes foram submetidas ao teste bidigital e medidas de ativação pressórica para fibras de contração fásicas, além da aplicação do questionário de qualidade de vida KHQ e anamnese. Os dados obtidos foram descritos em frequências, médias e desvios padrões, medianas, mínimos e máximos. Resultados: Ocorreu maior frequência de mulheres que apresentaram força muscular diminuída, 57,1% (40 mulheres). As queixas mais frequentes de perda urinária deram-se na tosse e no espirro em ambos os grupos analisados, grupo 1(92,5%) e grupo 2(96,7%). No grupo 2 (maior força), somente 1 mulher relatou perda urinária completa. Todas as medidas de ativação pressórica foram superiores no grupo1(menor força), em relação ao grupo 2 (maior força). No questionário KHQ foram evidenciados maiores escores dos domínios, nas pacientes com maior força muscular (grupo 2), resultando em pior percepção individual da qualidade de vida. Conclusão: Para uma intervenção fisioterapêutica objetiva, a avaliação da força muscular do assoalho pélvico torna-se primordial, já que, na maioria das pacientes, esta pode estar alterada. Além disso, a qualidade de vida deve ser analisada, pois a mesma pode não estar relacionada com dados objetivos como: idade, número de partos e tempo de perda urinária por exemplo.

Objective: Comparing strength scores of pelvic floor musclesbetween women groups of muscle strenght 1 (less strength) and 2 (more strength) with questionnaire and clinical anamnesis findings,and describing biofeedback values found. Methods: Transversal clinical trial with 70 women with eff ort urinary incontinence, dividedinto 2 groups according to muscle strength, being 40 women inthe fi rst group and 30 in the second. All the women had previous diagnosis of eff ort urinary incontinence in the climacteric period.Patients with neurological problems and pregnant women wereexcluded. The participants were subjected to the bi-digital test andbiofeedback measures for phasic contraction fibers, as well as a lifequality questionnaire KHQ (King’s Health Questionnaire) and clinical anamnesis. Data found were described as frequencies, meansand standard deviations, minimum and maximum median scores. Results: A higher frequency of women presenting low muscle strengthwas found, for 57.1% (40 women). The most frequent complaints ofurinary loss occurred during coughing and sneezing for both groups, group 1 (92.5%) and group 2 (96.7%). In group 2, only 1 woman reported total urinary loss. All biofeedback measures were higherin group 1. In the questionnaire (KHQ), higher domain-specifi cscores were found in patients with more muscle strength (group1), resulting in lower quality of life. Conclusion: The assessment of muscle strength is crucial for any physical therapy intervention. The quality of life must be analyzed, because it could not be related withobjective data like age, urinary time loosing and delivery numbers.