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OBJECTIVE: This guideline reviews the evidence-based management of normal and complicated monochorionic twin pregnancies. TARGET POPULATION: Women with monochorionic twin or higher order multiple pregnancies. BENEFITS, HARMS, AND COSTS: Implementation of these recommendations should improve the management of both complicated and uncomplicated monochorionic (and higher order multiple) twin pregnancies. They will help users monitor monochorionic twin pregnancies appropriately and identify and manage monochorionic twin complications optimally in a timely manner, thereby reducing perinatal morbidity and mortality. These recommendations entail more frequent ultrasound monitoring of monochorionic twins compared to dichorionic twins. EVIDENCE: Published literature was retrieved through searches of PubMed and the Cochrane Library using appropriate MeSH headings (Twins, Monozygotic; Ultrasonography, Prenatal; Placenta; Fetofetal Transfusion; Fetal Death; Fetal Growth Retardation). Results were restricted to systematic reviews, randomized controlled clinical trials, and observational studies. There were no date limits, but results were limited to English or French language materials. VALIDATION METHODS: The content and recommendations were drafted and agreed upon by the principal authors. The Board of the SOGC approved the final draft for publication. The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and conditional [weak] recommendations). INTENDED AUDIENCE: Maternal-fetal medicine specialists, obstetricians, radiologists, sonographers, family physicians, nurses, midwives, residents, and other health care providers who care for women with monochorionic twin or higher order multiple pregnancies. TWEETABLE ABSTRACT: Canadian (SOGC) guidelines for the diagnosis, ultrasound surveillance and management of monochorionic twin pregnancy complications, including TTTS, TAPS, sFGR (sIUGR), acardiac (TRAP), monoamniotic twins and intrauterine death of one MC twin. SUMMARY STATEMENTS: RECOMMENDATIONS.
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Transfusão Feto-Fetal , Gravidez de Gêmeos , Gravidez , Feminino , Humanos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal/efeitos adversos , Canadá , Transfusão Feto-Fetal/diagnóstico , Morte Fetal , Retardo do Crescimento Fetal/epidemiologiaRESUMO
OBJECTIF: Cette directive clinique passe en revue les données probantes sur la prise en charge de la grossesse gémellaire monochoriale normale et compliquée. POPULATION CIBLE: Les femmes menant une grossesse gémellaire ou multiple de haut rang. BéNéFICES, RISQUES ET COûTS: L'application des recommandations de cette directive devrait améliorer la prise en charge des grossesses gémellaires (ou multiples de haut rang) monochoriales compliquées et non compliquées. Ces recommandations aideront les fournisseurs de soins à surveiller adéquatement les grossesses gémellaires monochoriales ainsi qu'à détecter et prendre en charge rapidement les complications associées de façon optimale afin de réduire les risques de morbidité et mortalité périnatales. Ces recommandations impliquent une surveillance échographique plus fréquente en cas de grossesse monochoriale qu'en cas de grossesse bichoriale. DONNéES PROBANTES: La littérature publiée a été colligée par des recherches dans les bases de données PubMed et Cochrane Library au moyen de termes MeSH pertinents (Twins, Monozygotic; Ultrasonography, Prenatal; Placenta; Fetofetal Transfusion; Fetal Death; Fetal Growth Retardation). Les résultats ont été restreints aux revues systématiques, aux essais cliniques randomisés et aux études observationnelles. Aucune date limite n'a été appliquée, mais les résultats ont été limités aux contenus en anglais ou en français. MéTHODES DE VALIDATION: Les auteurs principaux ont rédigé le contenu et les recommandations et ils se sont entendus sur ces derniers. Le conseil d'administration de la SOGC a approuvé la version définitive aux fins de publication. Les auteurs ont évalué la qualité des données probantes et la force des recommandations en utilisant le cadre méthodologique GRADE (Grading of Recommendations Assessment, Development and Evaluation). Voir l'annexe A en ligne (tableau A1 pour les définitions et tableau A2 pour l'interprétation des recommandations fortes et conditionnelles [faibles]). PROFESSIONNELS CONCERNéS: Spécialistes en médecine fÅto-maternelle, obstétriciens, radiologues, échographistes, médecins de famille, infirmières, sages-femmes, résidents et autres fournisseurs de soins de santé qui s'occupent de femmes menant une grossesse gémellaire ou multiple de haut rang. RéSUMé POUR TWITTER: Directive canadienne (SOGC) pour le diagnostic, la surveillance échographique et la prise en charge des complications de la grossesse gémellaire monochoriale (p. ex., STT, TAPS, retard de croissance sélectif, cojumeau acardiaque, monoamnionicité et mort d'un jumeau). DÉCLARATIONS SOMMAIRES: RECOMMANDATIONS.
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BACKGROUND: We aimed to identify whether neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are more useful predictors after initial intention to treat than at the time of diagnosis. METHODS: We collected the medical data of 533 patients. The results of the peripheral blood sampling before the primary treatments were labeled as initial cohort, and those obtained between 24 and 36 months after initial treatment were defined as the 2nd cohort. Delayed metastasis has been defined as distant metastasis 2 years after treatment, and survival outcome was estimated and compared across groups. RESULTS: Median follow-up duration was 74 months (24-162 months), and 53 patients experienced delayed metastasis. In univariate analysis, metastasis-free survival, patient age at diagnosis, tumor size, axillary lymph node metastasis, HER-2 status, initial NLR and PLR, and 2nd NLR and PLR were found to be significantly associated with delayed metastasis. However, in multivariate analysis, only the 2nd NLR and PLR were found to be significantly associated with delayed metastasis, excluding initial NLR and PLR. Metastasis-free survival was analyzed through the pattern changes of NLR or PLR. The results revealed that patients with continued low NLR and PLR values at pre- and post-treatment (low initial values and 2nd values) showed a significantly better prognosis than those with a change in value or continued high NLR and PLR. CONCLUSIONS: We identified that patients with persistent high NLR and PLR after initial treatment have significant worse prognosis in terms of late metastasis. Therefore, these results suggest that NLR and PLR are more useful in predicting prognosis post-treatment.
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Plaquetas/metabolismo , Neoplasias da Mama/sangue , Linfócitos/metabolismo , Neutrófilos/metabolismo , Neoplasias da Mama/mortalidade , Feminino , Humanos , Pessoa de Meia-Idade , Análise de SobrevidaRESUMO
OBJECTIVES: To evaluate the predictive value of virtual monoenergetic images (VMIs) by assessing tumor conspicuity on dual-layer spectral detector CT (SDCT) and correlate tumor conspicuity on VMI with prognostic biomarkers in patients with breast cancer. METHODS: Sixty-four patients underwent arterial phase and 90-s delayed phase dual-layer SDCT. A retrospective tumor conspicuity analysis of 14 benign tumors and 65 breast cancers was performed using conventional images (CIs) and VMI at 40 keV (VMI40) on arterial and delayed phase scans (CIART, VMI40ART, CIDE, VMI40DE). Mean Hounsfield units (HU) of tumors were measured on VMI40ART and VMI40DE. A receiver operating characteristic (ROC) curve analysis was performed to compare diagnostic accuracy between image sets. Estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), and Ki67 levels were evaluated using histopathology. Correlations between VMI analyses and histological characteristics of cancers were analyzed. RESULTS: Cancers on VMI40 had a significantly higher conspicuity score and mean HU than benign tumors (p < 0.001). VMI40DE showed the highest conspicuity for cancers (mean, 3.79) and the greatest area under the ROC curve (0.817; 95% confidence interval 0.745-0.889). VMI40DE yielded significantly higher mean HU for cancers than VMI40ART (p < 0.001). The conspicuity score and mean HU on VMI40ART were significantly higher in cancers with ER negativity, PR negativity, and Ki67 positivity (p < 0.05). CONCLUSIONS: VMI40DE may be useful in the diagnosis of breast cancers due to higher tumor conspicuity and better enhancement than VMI40ART. VMI40ART may be beneficial for the prediction of poor breast cancer prognoses. KEY POINTS: ⢠VMI40 improved conspicuity of breast cancer than CI. ⢠VMI40DEyielded higher diagnostic performance of breast cancer than VMI40ART. ⢠VMI40ARThas an additional benefit in terms of prognosis prediction in patients with breast cancers.
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Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/diagnóstico , Meios de Contraste/farmacologia , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Imagem Radiográfica a Partir de Emissão de Duplo Fóton/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/metabolismo , Feminino , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos RetrospectivosRESUMO
BACKGROUND: In our previous study, transumbilical endoscopic submucosal dissection (TU-ESD) was revealed to be feasible, but delayed gastric perforation was observed in 30% of ESD sites. In this study, we aimed to verify locations at which it is feasible to perform TU-ESD in the upper gastric body and to demonstrate the safety of TU-ESD in single-basin lymph node dissection (SBLND). METHODS: In vitro, TU-ESD was performed at three lesion sites (anterior wall, AW; posterior wall, PW; and lesser curvature, LC) in each porcine stomach using an EASIE-R tray (cases = 10). In vivo, TU-ESD was performed with SBLND in 9 pigs. Seven days after the operation, the pigs were sacrificed and examined. RESULTS: In the in vitro feasibility study, the TU-ESD time was significantly faster in the PW group (5.9 ± 2.0 min) than in the LC group (8.5 ± 1.5 min) (p < 0.05) in all 10 cases. In the in vivo survival study, TU-ESD with SBLND was successfully performed without any complications (N = 9). There were no cases of delayed perforation, and healing ulcers were found in all pigs 7 days after the operation. Ulcer size (5.2 ± 3.5 cm2) was approximately 36% smaller than that observed at the ESD operation site (8.1 ± 1.9 cm2) (p = 0.05). Epithelialization in the margin and healing of the gastric ulcers were confirmed by microscopy. CONCLUSIONS: TU-ESD with SBLND is a feasible and safe method. The upper posterior gastric body could be the most feasible location for performing TU-ESD, perhaps because of the difference in the subcutaneous dissection time.
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Ressecção Endoscópica de Mucosa/métodos , Mucosa Gástrica/cirurgia , Excisão de Linfonodo/métodos , Neoplasias Experimentais , Neoplasias Gástricas/cirurgia , Animais , Estudos de Viabilidade , Mucosa Gástrica/diagnóstico por imagem , Gastroscopia/métodos , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/secundário , SuínosRESUMO
PURPOSE: Mucinous carcinoma (MC) is a rare breast cancer with favorable outcome. Unlike typical breast cancer, the current guidelines do not recommend chemotherapy or anti-human epidermal growth factor receptor 2 (HER2) therapy for hormone receptor (HR)-positive MC, regardless of HER2 status. We evaluated the prognostic implication of HER2 status in HR-positive MC. METHODS: We retrospectively reviewed the data of 471 patients with pure MC (stages I-III) who underwent curative surgery. We analyzed 5-year disease-free survival (DFS) and distant metastasis-free survival (DMFS), according to clinicopathological characteristics. RESULTS: The median follow-up duration was 79.0 months. Overall, the 5-year DFS rate was 95.7% and the 5-year DMFS rate was 96.2%. Nodal status was the only significant factor for DFS (relative risk [RR], 3.40; 95% confidence interval [CI] 3.40-9.67, p = 0.021). Among HR-positive/node-negative patients with tumor size ≥ 3 cm, HER2-positive patients showed significantly worse DFS (RR, 8.76; 95% CI 1.45-52.76, p = 0.018) and DMFS (RR, 11.37; 95% CI 1.37-74.70, p = 0.011). This finding was consistently significant, when combining both "HR-positive/node-negative/tumor size ≥ 3 cm" and "HR-positive/node-positive" MC (n = 125) for DFS (RR, 4.30; 95% CI 1.43-12.97, p = 0.009) and DMFS (RR, 4.93; 95% CI 1.63-14.90, p = 0.005). Intriguingly, within this subgroup, among HER2-positive tumors, whereas 5-year DFS was 60.2% in patients who did not receive trastuzumab, 100% of those who received trastuzumab were disease free (p = 0.053). CONCLUSIONS: In HR-positive, node-negative MC with tumor size ≥ 3 cm, patients with HER2-positive MC showed worse survival, suggesting a potential role of an anti-HER2 strategy in this subgroup.
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Adenocarcinoma Mucinoso/mortalidade , Neoplasias da Mama/mortalidade , Quimiorradioterapia/mortalidade , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , Adenocarcinoma Mucinoso/metabolismo , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Neoplasias da Mama/terapia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto JovemRESUMO
OBJECTIVE: This study aims to review temporal changes in perinatal management and 1-year survival outcomes of cases of congenital diaphragmatic hernia (CDH) from 1996 to 2015 in Western Australia (WA). METHOD: This research is a retrospective study of all cases of CDH in WA from 1996 to 2015 identified from five independent databases within the WA health network. Detailed information pertaining to pregnancy and survival outcomes were obtained from review of maternal and infant medical records. RESULTS: There were 215 cases of CDH with 164 diagnosed prenatally. Between 1996 and 2010, a decline in live birth rates for CDH-affected pregnancies was observed, reaching a nadir of 5.3 per 10 000 births before increasing to a peak of 9.73 per 10 000 births in 2011-2015. A corresponding decline was seen in the number of pregnancies terminated in the same period from 8.3 to 4.6 per 10 000 births (P = 0.14) and an increase in survival of live births from 38.9% to 81.3% (P = 0.01). CONCLUSION: The improved overall survival rate in infants with CDH over the last 20 years may have resulted in an increased tendency for women to continue their pregnancy with a concomitant decline in termination rates. Information from this study will help in the counselling of women following prenatal detection of CDH.
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Aborto Induzido/tendências , Hérnias Diafragmáticas Congênitas/mortalidade , Taxa de Sobrevida/tendências , Anormalidades Múltiplas , Adulto , Aconselhamento , Tomada de Decisões , Feminino , Idade Gestacional , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Hipertensão Pulmonar , Lactente , Recém-Nascido , Pulmão/anormalidades , Pneumopatias , Masculino , Gravidez , Estudos Retrospectivos , Natimorto/epidemiologia , Ultrassonografia Pré-Natal , Austrália Ocidental/epidemiologiaRESUMO
We report a unique case of a 67-year-old woman with neurofibromatosis type 1, who was also diagnosed with metaplastic spindle cell carcinoma of the left breast. She had many neurofibromatosis lesions on her body, as well as the mass in the left breast. After the breast mass was diagnosed as a malignant mesenchymal tumor by core needle biopsy, the patient underwent left modified radical mastectomy. Subsequently, the pathological analysis of the tumor showed it to be a metaplastic spindle cell carcinoma. The co-occurrence of neurofibromatosis type 1 and breast cancer, in particular metaplastic spindle cell carcinoma, is very rare.
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Neoplasias da Mama/patologia , Carcinoma/patologia , Neurofibromatose 1/patologia , Idoso , Biópsia com Agulha de Grande Calibre , Neoplasias da Mama/cirurgia , Carcinoma/cirurgia , Feminino , Humanos , Mastectomia RadicalRESUMO
BACKGROUND: A comprehensive preterm birth prevention program was introduced in the state of Western Australia encompassing new clinical guidelines, an outreach program for health care practitioners, a public health program for women and their families based on print and social media, and a new clinic at the state's sole tertiary level perinatal center for referral of those pregnant women at highest risk. The initiative had the single aim of safely lowering the rate of preterm birth. OBJECTIVE: The objective of the study was to evaluate the outcomes of the initiative on the rates of preterm birth both statewide and in the single tertiary level perinatal referral center. STUDY DESIGN: This was a prospective population-based cohort study of perinatal outcomes before and after 1 full year of implementation of the preterm birth prevention program. RESULTS: In the state overall, the rate of singleton preterm birth was reduced by 7.6% and was lower than in any of the preceding 6 years. This reduction amounted to 196 cases relative to the year before the introduction of the initiative and the effect extended from the 28-31 week gestational age group onward. Within the tertiary level center, the rate of preterm birth in 2015 was also significantly lower than in the preceding years. CONCLUSION: A comprehensive and multifaceted preterm birth prevention program aimed at both health care practitioners and the general public, operating within the environment of a government-funded universal health care system can significantly lower the rate of early birth. Further research is now required to increase the effect and to determine the relative contributions of each of the interventions.
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Promoção da Saúde/organização & administração , Nascimento Prematuro/prevenção & controle , Avaliação de Programas e Projetos de Saúde , Austrália/epidemiologia , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Recém-Nascido Prematuro , Capacitação em Serviço , Guias de Prática Clínica como Assunto , Gravidez , Nascimento Prematuro/epidemiologia , Saúde Pública , Mídias SociaisAssuntos
Neoplasias da Mama/patologia , Infecções por Enterobacteriaceae/terapia , Lipossarcoma Mixoide/patologia , Tumor Misto Maligno/patologia , Neoplasias Primárias Múltiplas/patologia , Tumor Filoide/patologia , Antibacterianos/uso terapêutico , Neoplasias da Mama/complicações , Neoplasias da Mama/cirurgia , Emergências , Enterobacter aerogenes , Infecções por Enterobacteriaceae/complicações , Feminino , Humanos , Leucocitose , Lipossarcoma/complicações , Lipossarcoma/patologia , Lipossarcoma/cirurgia , Lipossarcoma Mixoide/complicações , Lipossarcoma Mixoide/cirurgia , Mastectomia , Pessoa de Meia-Idade , Tumor Misto Maligno/complicações , Tumor Misto Maligno/cirurgia , Necrose , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/cirurgia , Tumor Filoide/complicações , Tumor Filoide/cirurgia , Infecções dos Tecidos Moles , Taquicardia , ÚlceraRESUMO
BACKGROUND: Kikuchi-Fujimoto disease (KFD) is a rare, self-limiting inflammatory condition of unknown etiology that is characterized by fever and painful lymphadenopathy. KFD commonly involves the posterior cervical region and very rarely occurs in the axilla. CASE PRESENTATION: We report on a case of KFD that presented 3 weeks after receiving the messenger ribonucleic acid-based coronavirus disease 2019 (COVID-19) vaccine. In this case, we suspected the lesions as COVID-19 vaccination-related lymphadenopathy on the initial ultrasonographic examination. CONCLUSION: Through this case report, we highlight that KFD should be considered in the differential diagnosis of patients with axillary lymphadenopathy who have undergone COVID-19 vaccination, as unusual side effects of COVID-19 vaccination have been increasingly reported in the literature owing to the rapid development of various COVID-19 vaccines during the pandemic period. In addition, we emphasize the importance of clinical suspicion in diagnosing KFD due to the fact that axillary involvement of KFD is extremely rare.
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OBJECTIVE: To compare clinical and operative results between laparoscopic primary repair (LPR) alone and LPR with highly selective vagotomy (LPR-HSV) in patients with duodenal ulcer perforation. METHODS: Clinical data from patients who underwent either LPR or LPR-HSV by resecting both sides of the neurovascular bundle using an ultrasonic or bipolar electrosurgical device for duodenal ulcer perforations, between 2010 and 2020, were retrospectively collected. Between-group differences in continuous and categorical variables were statistically analysed. RESULTS: Data from 184 patients (mean age, 49.6 years), who underwent either LPR (n = 132) or LPR-HSV (n = 52) were included. The mean operation time was significantly longer in the LPR-HSV group (116.5 ± 39.8 min) than in the LPR group (91.2 ± 33.3 min). Hospital stay was significantly shorter in the LPR-HSV group (8.6 ± 2.6 days) versus the LPR group (11.3 ± 7.1 days). The mean postoperative day of starting soft fluid diet was also significantly shorter in the LPR-HSV group (4.5 ± 1.4 days) than in the LPR group (5.6 ± 4 days). No between-group difference in morbidity rate was observed. The learning curve of the HSV procedure showed a stable procedure time after 10 operations. CONCLUSIONS: LPR with HSV may be a safe and feasible procedure for selective cases who are at high risk for ulcer recurrence.
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Úlcera Duodenal , Laparoscopia , Úlcera Péptica Perfurada , Humanos , Pessoa de Meia-Idade , Úlcera Duodenal/complicações , Úlcera Duodenal/cirurgia , Vagotomia Gástrica Proximal , Estudos Retrospectivos , Úlcera Péptica Perfurada/cirurgia , Recidiva , Complicações Pós-Operatórias/cirurgiaRESUMO
PURPOSE: Pegfilgrastim is a widely used long-acting granulocyte colony-stimulating factor (G-CSF) that prevents febrile neutropenia (FN) in patients with breast cancer receiving chemotherapy. This study aimed to evaluate the incidence of chemotherapy-related FN events and other adverse events (AEs) during chemotherapy in Korean patients with breast cancer treated with pegfilgrastim as secondary prophylactic support. MATERIALS AND METHODS: This was a multicenter, open-label, prospective, observational study. A total of 1255 patients were enrolled from 43 institutions. The incidence of FN was evaluated as the primary endpoint. The secondary endpoints included (1) incidence of bone pain, (2) proportion of patients with a relative dose intensity (RDI) of ≥85%, and (3) proportion of patients with AE. RESULTS: Pegfilgrastim administration reduced FN by 11.8-1.6%. The highest incidence of bone pain was observed at the time point of the 1st day after the administration and mild bone pain was the most common of all bone pain severity. The mean RDI was 98.5 ± 7.3%, and the proportion of the patients with and RDI≥85% was 96.9% (1169/1233). AEs were reported in 52.6% of the patients, and serious drug reactions occurred in only 0.7%. CONCLUSION: The use of pegfilgrastim as secondary prophylaxis was effective and safe for preventing FN in patients with breast cancer who were treated with chemotherapy.
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Neoplasias da Mama , Neutropenia Febril , Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Incidência , Estudos Prospectivos , Neutropenia Febril/induzido quimicamente , Neutropenia Febril/epidemiologia , Neutropenia Febril/prevenção & controle , Dor , República da Coreia/epidemiologiaRESUMO
Objectives: This study aimed to analyze the proximity of maxillary molar roots to their overlying cortical bone surfaces and the maxillary sinus. Materials and Methods: Cone-beam computed tomographic images of 151 patients with completely erupted upper molars that had 3 separate roots were studied. The following distances were measured: from the root apex to the cortical plate and maxillary sinus floor, and from the apical 3-mm level of the root to the cortical plate. Differences between groups were analyzed with 1-way analysis of variance and the Scheffé post hoc test, the significance of differences between cone-beam computed tomography views with the paired t-test, and the significance of differences among age groups with linear regression analysis. The significance level was set at p < 0.05. Results: The mesiobuccal and distobuccal root apexes of maxillary second molars were more distant from the buccal cortical plate than the maxillary first molars (p < 0.05). The apical 3-mm level of the mesiobuccal root of the first molar was closer to the buccal cortical bone than the second molar (p < 0.05). In the maxillary first molars, the thickness of the buccal cortical bone decreased in all roots with age (p < 0.05). In all root apexes of both molars, the difference in the vertical level between the maxillary sinus floor and the root apex increased with age (p < 0.05). Conclusions: Awareness of the anatomical profile of maxillary molar apices in relation to the cortical bones and maxillary sinus will be beneficial for apical surgery.
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Ectopic thymic neoplasm, particularly ectopic thymic carcinoma, is a rare disease that presents as a neck mass. Here, we present a case of ectopic thymic squamous carcinoma in a 65-year-old man who presented with persistent hoarseness. After fine needle aspiration cytology, the patient underwent total thyroidectomy with lymph node dissection. The final histopathological examination revealed the ectopic thymic squamous carcinoma. The patient was discharged without any postoperative complications. The patient received adjuvant radiation therapy and did not progress during the 1-year follow-up period.
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Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function. Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B). Here we describe three fetuses presenting in the second trimester with a lethal form of arthrogryposis and pterygia and harbouring bi-allelic variants in MYH3. One proband was compound heterozygous for a missense change and an extended splice site variant, a second proband had a homozygous frameshift variant, and a third proband was homozygous for a nonsense variant. Minigene assays performed on the first fetus showed that the missense and extended splice site variants resulted in aberrant splicing, likely resulting in near complete loss of full-length MYH3 transcript. This study shows that loss of MYH3 is associated with a lethal arthrogryposis phenotype and highlights the utility of minigene assays to assess splicing.
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Artrogripose , Contratura , Anormalidades da Pele , Sinostose , Anormalidades Múltiplas , Artrogripose/genética , Túnica Conjuntiva/anormalidades , Contratura/genética , Humanos , Vértebras Lombares/anormalidades , Doenças Musculoesqueléticas , Fenótipo , Pterígio , Escoliose/congênito , Sinostose/genética , Vértebras Torácicas/anormalidadesRESUMO
Background: To date, red blood cell distribution width (RDW) and RDW-to-platelet count ratio (RPR) have been investigated for their association with cancer. This study aimed to investigate the prognostic value of RDW and RPR in breast cancer before and after treatment. Methods: We retrospectively enrolled 395 patients with breast cancer, who were diagnosed between December 2009 and December 2015 and analyzed the association between RDW, RPR, and long-term prognosis. We also compared the RDW and RPR values with the pathologic parameters of breast cancer. The cutoff values for before-treatment RDW, RPR value, after-treatment RDW, and RPR were determined using receiver operating characteristic (ROC) curve analysis by identifying the highest Youden index. Results: In the before-treatment state, no significant disease-free survival (DFS) or overall survival (OS) was found in the RPR and RDW values. However, we found that elevated after-treatment RPR and RDW were significant prognostic factors for DFS, with hazard ratios (HRs) of 2.233 [95% confidence interval (CI): 1.073-4.649; P=0.032] and 2.067 (95% CI: 1.085-3.937; P=0.027). Kaplan-Meier analysis indicated that the after-treatment RPR and RDW groups had poor OS (HR =30.461; 95% CI: 5.138-180.575; P<0.001) compared with the lower after-treatment RPR and RDW groups. In particular, when the RPR and RDW were in the lower group before the treatment and became elevated after the treatment, it showed a remarkably significant result for OS, with HR 132.6 (95% CI: 3.689-4,767.341; P=0.007) and 10.119 (95% CI: 1.853-55.249; P=0.008). Conclusions: Thus, after-treatment RPR and RDW could have prognostic value for breast cancer after surgery and adjuvant treatment.
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PURPOSE: Fluorodeoxyglucose-PET/computed tomography (FDG-PET/CT) affects the management of patients with breast cancer. Our study aimed to determine the predictive ability of characteristics such as lymph node involvement or subtype and the prognostic value of pretreatment FDG-PET/CT in breast cancer. METHOD: A total of 270 patients who were confirmed with breast cancer histopathologically and underwent pretreatment FDG-PET/CT were enrolled in the study. Nuclear medicine specialists obtained the readings and measured the maximum standardized uptake value (SUVmax) of the images. Tumor and lymph node SUVmax were evaluated according to lymph node metastasis and subtype status. Survival outcomes were analyzed by the Kaplan-Meier method. RESULTS: The lymph node SUVmax and the lymph node/tumor SUVmax ratio were significantly higher in the subgroup of patients with lymph node metastasis than in those without lymph node metastasis. High cutoff lymph node SUVmax value and lymph node/tumor SUVmax ratio were confirmed as significant predictive factors in multivariate analysis. In a comparison of the tumor SUVmax values, the more biological aggressive subtype showed higher tumor SUVmax values. In survival analysis, tumor SUVmax and lymph node SUVmax were significant predisposing factors for disease-free survival in breast cancer. In subgroup analysis, tumor SUVmax was a more significant prognostic factor in patients who had breast cancer with tumor sizes of ≤2 cm. The lymph node SUVmax was more a significant prognostic factor in patients who had breast cancer with lymph node metastasis. CONCLUSION: In this study, we showed that the SUVmax of FDG-PET/CT was a useful predictor of lymph node metastasis and breast cancer prognosis.