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Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and congenital myopathy in a patient from a consanguineous family. Alvocidib Ultra-structural examination of the biopsy revealed few cores/mini-cores and sparse nemaline rods. We found a novel homozygous intronic sequence variant, c.564-2A>C in TPM2. This variant is predicted to abolish the consensus acceptor splice site for exon 6b of TPM2 gene. Parents of the proband, both healthy adults with no clinical features, were heterozygous for the variant. Here we establish a homozygous intronic variant in TPM2 as the likely cause of Escobar variant of multiple pterygium syndrome and congenital myopathy, with sparse nemaline rods.
Breast cancer co-occurred with thyroid cancer might be associated with thyroid hormone receptor (TR) and estrogen receptor (ER), but few have been reported. We aimed to investigate the expression and prognostic significance of ERs and TRs in such settings.
Tissue microarrays were constructed from 75 patients with breast and thyroid cancer (BC+TC) who were retrospectively recruited between 1999 and 2012 and 147 with breast cancer only (BC controls). The ERα, ERβ, TRα, and TRβ expression levels were analyzed by immunohistochemistry.
TRα expression was more frequently observed in the BC+TC group than the BC control group both in the normal (51.5% vs 23.3%, respectively, p=0.009) and cancer tissues (21.6% vs 6.8%, respectively, p=0.001). The BC+TC group showed greater ERα-positivity in the cancer tissues (79.7% vs 58.7%, respectively, p=0.002) than the BC control group. The degree of ERα- and TRα-positivity was unchanged by radioactive treatment or serum thyroid stimulating hormone levels. In the BC+TC group, ERα-positivity was associated with earlier disease stage I/IIA (81.0% vs 50.0%; p=0.031) and lower recurrence rates (8.5% vs 40.0%; p=0.002). TRα-positivity alone was not associated with any recurrence-free survival-related differences, and ERα- and TRα-negativity were associated with significantly shorter recurrence-free survival (p<0.001).
Enhanced ERα and TRα expression in breast cancer is associated with thyroid cancer occurrence, and the observed association with prognosis suggests the possible role of ERs and TRs in the link between breast cancer and thyroid cancer.
Enhanced ERα and TRα expression in breast cancer is associated with thyroid cancer occurrence, and the observed association with prognosis suggests the possible role of ERs and TRs in the link between breast cancer and thyroid cancer.
The current study aimed to evaluate the ability of a modified version of the age-adjusted Charlson Comorbidity Index (mACCI) in predicting cause-specific survival (CSS) among patients with gastric cancer who underwent curative gastrectomy and compared it with the conventional ACCI.
Patients who underwent gastrectomy for gastric cancer from 2007 to 2016 (n=2885) were included. A mACCI was established by excluding scores for other malignancies, such as other cancers, leukemia, and lymphoma. After determining the optimal cutoff ACCI and mACCI values for CSS, clinicopathological factors and survival outcomes were assessed according to the ACCI and mACCI.
Both ACCI and mACCI were identified as independent prognostic factors for overall survival (p<0.001 and p<0.001, respectively). However, only mACCI was identified as an independent prognostic factor for CSS (p<0.001). The present study suggested that mACCI was a better indicator of CSS in patients with gastric cancer who underwent curative gastrectomy than ACCI.
Our findings showed that the mACCI was a strong predictor of CSS in patients with gastric cancer who underwent curative gastrectomy. We believe that the mACCI will become a novel marker that would guide treatment decisions for patients with gastric cancer suffering from comorbidities.
Our findings showed that the mACCI was a strong predictor of CSS in patients with gastric cancer who underwent curative gastrectomy. We believe that the mACCI will become a novel marker that would guide treatment decisions for patients with gastric cancer suffering from comorbidities.
The transoral endoscopic thyroidectomy vestibular approach (TOETVA) has been increasingly used to treat patients with papillary thyroid cancer (PTC) with improved cosmetic outcomes. This study aimed to explore the safety and efficacy of TOETVA in patients with PTC.
This retrospective study included TOETVA patients from Yantai Yuhuangding and Xiamen Zhongshan Hospitals. Among the 297 patients studied, 84 had benign nodules (28.3%), 208 had PTC (70.0%), and five had follicular thyroid cancer (1.7%).
The incidence of transient and permanent recurrent laryngeal nerve injury was 1.3%, while that of transient hypoparathyroidism was 1.0%. Mental nerve paraesthesia was observed in 241 cases (81.1%), while permanent mental nerve paraesthesia was noted in seven cases (2.4%). Abnormal motor function of the lower lip and chin was observed in 12 cases (4.0%). Ten of the 208 patients with PTC (4.8%) underwent total thyroidectomy (TT) and bilateral central neck dissection (CND). A mean 6.6±4.1 and 10.9±4.0 lymph nodes were removed in the unilateral and bilateral surgeries, respectively, with a metastasis rate of 49.0%; a mean 2.7±2.3 and 3.2±2.6 lymph nodes were metastatic, respectively. The parathyroid gland was inadvertently removed in 6.6% and auto-transplanted in 10.6% of patients with unilateral PTC. The non-stimulated thyroglobulin level in the TT and bilateral CND patients was below 1ng/mL at the 6-month follow-up.
TOETVA is safe in well-selected patients with unilateral PTC. However, its safety remains unclear in patients treated with TT and bilateral CND.
TOETVA is safe in well-selected patients with unilateral PTC. However, its safety remains unclear in patients treated with TT and bilateral CND.
Collaborative quality consortia can facilitate implementation of quality measures arising from clinical databases. Our statewide general thoracic surgery (GTS) collaborative investigated the influences of cigarette smoking status on mortality and major morbidity following lobectomy for lung cancer.
Society of Thoracic Surgeons General Thoracic Surgery Database records were identified from 14 institutions participating in a statewide thoracic surgical quality collaborative between 2012 and 2017. We excluded patients with nonelective procedures, stage 0 tumors, American Society of Anesthesiologists class VI disease, and missing clinical characteristics. Outcomes analysis included the combined mortality and major postoperative morbidity rates and the influence of patient characteristics, including smoking status, on composite rate and on postoperative complications.
The study cohort included 2267 patient records for analysis. Overall combined mortality and major morbidity rate was 10.2% (n=231). Postoperative 30-day mortality was 1.
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