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AUC was between 0.891 and 0.804. The decision curve analysis also showed performed better than positive line and negative line, indicating the favorable predictive performance and clinical values of the models.By incorporating clinical characteristics and systemic inflammation markers, it is feasible to develop ML-based models for the presence and consequences of signs of pulmonary infection in stroke patients, and the use of the model may be greatly beneficial to clinicians in risk stratification and management decisions.
Venous thrombosis remains a significant problem in modern days. Genetic factors contribute to a subset of patients with venous thrombosis. It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequencing.
A thrombophilic family presented with multiple venous thrombosis was examined.
Molecular genetic analysis revealed a pathogenic missense variant of the PROS1 gene. Based on this finding and clinical manifestations, a final diagnosis of protein S deficiency was made.
Whole exome sequencing (WES) of the proband was performed to identify disease-causing variants. Subsequently, Sanger sequencing was performed to validate the variant in the affected members.
Using WES, we rapidly identified a proven pathogenic missense variant (c.1543C > T, p.Arg515Cys) in the sex hormone-binding globulin domain of PROS1, which was confirmed by Sanger sequencing. The decreased level and activity of protein S caused by the variant explained the phenotypes of the family. Patients received rivaroxaban as a long-term anticoagulation therapy and achieved a good prognosis.
Our study suggests WES as a rapid search strategy to identify the genetic factors underlying thrombophilic disorders. Patients with venous thrombosis caused by PROS1 mutations could receive rivaroxaban as the first choice of anticoagulation therapy.
Our study suggests WES as a rapid search strategy to identify the genetic factors underlying thrombophilic disorders. Patients with venous thrombosis caused by PROS1 mutations could receive rivaroxaban as the first choice of anticoagulation therapy.
To assess the relationship between retinal vein occlusion (RVO) and the incidence of cardiovascular (CV) events.This was a single-institution, retrospective cohort study. We enrolled 57 patients diagnosed with RVO between January 2012 and December 2019, and 125 non-RVO patients who had undergone cataract surgery by a single surgeon between January and April 2012. We compared the relative risk and incidence rate ratio of CV events between the 2 groups. In addition, survival analysis was performed to calculate the hazard ratio (HR) using the Cox proportional hazards model. RVO, age, sex, blood pressure, body mass index, presence of diabetes, blood sample data, and smoking were considered confounders.The mean observation period (± standard deviation) for the RVO and non-RVO groups was 2.68 ± 2.04 and 2.81 ± 2.70 years, respectively. Seven CV events were observed in the RVO group and 2 in the non-RVO group. Relative risk and incidence rate ratio were 7.68 (95% confidence interval [CI] 1.65-35.8) and 8.07 (95% C, and smoking were considered confounders.The mean observation period (± standard deviation) for the RVO and non-RVO groups was 2.68 ± 2.04 and 2.81 ± 2.70 years, respectively. Seven CV events were observed in the RVO group and 2 in the non-RVO group. Relative risk and incidence rate ratio were 7.68 (95% confidence interval [CI] 1.65-35.8) and 8.07 (95% CI 1.54-79.6), respectively. Multivariate analysis revealed that the RVO group had a high HR for CV events (HR 16.13 [95% CI 2.29-113.74]) and older age (HR 1.26 [95% CI 1.06-1.49]).RVO can predict future CV events, especially in the elderly population. Fundus observations should be shared between ophthalmologists and internists to prevent future CV events.
Syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH) is a rare cause of hyperthyroidism. Thyroid-stimulating hormone (TSH) levels are usually normal or high, and triiodothyronine (FT3) and free thyroxine (FT4) levels are usually high in subjects with SITSH.
A 37-year-old woman had experienced galactorrhea and menstrual disorder for a couple of years before. She had undergone infertility treatment in 1 year before, hyperthyroidism was detected and she was referred to our institution.
She was suspected of having SITSH and was hospitalized at our institution for further examination. The data on admission were as follows FT3, 4.62 pg/mL; FT4, 1.86 ng/dL; TSH, 2.55 μIU/mL. Although both FT3 and FT4 levels were high, TSH levels were not suppressed, which is compatible with SITSH. check details In addition, in brain contrast-enhanced magnetic resonance imaging, nodular lesions were observed in the pituitary gland with a diameter of approximately 10 mm. In the thyrotropin-releasing hormone load test, TSwe should recognize that it is very important to repeatedly examine thyroid function in subjects with galactorrhea, menstrual disorder, or infertility.
Synovial sarcoma is a rare malignant tumor that typically originates from the soft tissue of the extremities. The occurrence of primary pharyngeal synovial sarcoma is even rarer, and few studies have reported its radiological features. Here, we report a case of pediatric primary pharyngeal synovial sarcoma and describe the conventional and advanced magnetic resonance imaging (MRI) findings with pathologic correlation.
An 11-year-old girl presented to the otolaryngologic clinic with dysphagia.
Laryngoscopy revealed a large mass in the oropharynx. MRI revealed a well-defined soft tissue mass with a maximal diameter of approximately 5 cm originating from the submucosal space of the oropharynx. The mass was primarily solid and showed homogeneous contrast-enhancement. The mass was hypointense on T1-weighted images and hyperintense on T2-weighted images. The mass showed a homogeneously low apparent diffusion coefficient value on diffusion-weighted imaging, which indicated high tumor cellularity. Dynamic contre based on the postoperative pathological examination findings.
Synovial sarcoma should be considered in the differential diagnosis of pediatric oropharyngeal submucosal tumors. Multimodal MRI may aid diagnosis, although the final diagnosis should be based on the postoperative pathological examination findings.
Breast cancer patients with liver metastases are associated with high mortality. However, no standardized treatment approach is available for these patients who have undergone chemotherapy and hormonal therapy. We aimed to assess the clinical outcomes of patients with breast cancer liver metastases (BCLM) who underwent drug-eluting beads used for transarterial-chemoembolization (DEB-TACE).We retrospectively enrolled 14 patients with 39 lesions who underwent DEB-TACE for liver metastases following mastectomy for primary breast cancer. The incidence of complications, overall survival (OS), and local tumor progression-free survival (PFS) were assessed.A total of 14 patients with 39 liver metastases were treated with DEB-TACE from July 2017 to July 2020. The objective response rates (ORR) and disease control rates (DCR) were 71.4% and 92.8% at the 3-month period and 50% and 71.4% at the 6-month period, respectively. During the follow-up period the local tumor PFS was 8.0 months. The median OS was 20.0 months (rgression-free survival (PFS) were assessed.A total of 14 patients with 39 liver metastases were treated with DEB-TACE from July 2017 to July 2020. The objective response rates (ORR) and disease control rates (DCR) were 71.4% and 92.8% at the 3-month period and 50% and 71.4% at the 6-month period, respectively. During the follow-up period the local tumor PFS was 8.0 months. The median OS was 20.0 months (range, 8-40 months) and the 1-, 2-year OS rates were 84.4% and 47.4%, respectively. No severe complications caused by this technique were detected.DEB-TACE for BCLM was characterized as a low trauma technique, with a limited number of complications. The results indicated that this method was safe and effective for patients with BCLM and could be widely adopted as a palliative treatment in clinical practice.
The unplanned return to the operating room rate is a quality metric for assessing hospital performance. This study aimed to evaluate the cause, incidence, and time interval of unplanned returns in index neurosurgical procedures within 30 days of the initial surgery as an internal audit. We retrospectively analyzed neurosurgical procedures between January 2015, and December 2019, in a single regional hospital. The definition of an unplanned return to the operating room was a patient who underwent two operations within 30 days when the second procedure was not planned, staged, or related to the natural course of the disease.A total of 4365 patients were identified in our analysis, of which 93 (2%) had an unplanned return to the operating room within 30 days of their initial surgery during admission. The most common reason for an unplanned return to the operating room for a cranial procedure was hemorrhage, followed by hydrocephalus and subdural effusion, which accounted for 49.5%(46/93), 12%(11/93), and 5.4%(ial surgery and postoperative residual disc in spine surgery was crucial as an internal audit in a 5-year single institute follow-up. However, the unplanned reoperation rate is less helpful in benchmarking because of the heterogeneity of patients between hospitals.
In the last decade, high-resolution esophageal manometry (HREM) is the main device for the management of dysphagia replacing conventional manometry (CM). Conventional manometry still seems to have some space to diagnose major motility disorders and differentiate normal from abnormal esophageal motility. The long term outcomes of patients with normal CM were analyzed in our study.Participants (patients with dysphagia and normal CM) took a questionnaire via a phone call in February 2021. Impact Dysphagia Questionnaire (IDQ) was used as an assessment tool.Only 55% (83/151) the individuals with previous normal manometric findings were reached via telephone. The group who have completed the survey was representative of the cohort. 66.2% of the participants were female (P = .40). The mean age was 57.21, mean weight was 70.69 kg, mean height was 163.74 cm and mean body mass index was 26.41. More than 40% of patients were completely asymptomatic at follow up, reflected by an IDQ score of 0. Only 28 out of 83 (33.7%etric findings were reached via telephone. The group who have completed the survey was representative of the cohort. 66.2% of the participants were female (P = .40). The mean age was 57.21, mean weight was 70.69 kg, mean height was 163.74 cm and mean body mass index was 26.41. More than 40% of patients were completely asymptomatic at follow up, reflected by an IDQ score of 0. Only 28 out of 83 (33.7%) patients reported significant symptoms as reflected by an IDQ score greater than or equal to 7. The rest of responders admitted as having moderate to mild symptoms.HREM is a valid technique with comparable precision to CM. HREM measurements differ considerably to CM. The identification of normal motor function in CM is not likely a positive prognostic indicator and must be interpreted precautiously.