Notes

LRRK2 is essential for CD38-mediated NAADP-Ca2+ signaling and the downstream account activation of TFEB (transcription aspect EB) in immune cellular material.
Paraquat (PQ) poisoning is associated with high mortality rate. Therefore, an accurate method for predicting the survival of patients with PQ poisoning is required. This study evaluated the value of serum anion gap (AG) at admission in predicting the survival of such patients.Cases of patients with PQ poisoning admitted to Cangzhou Central Hospital between May 2012 and March 2019 were retrospectively analyzed. The patients were classified into survival and nonsurvival groups on the basis of their 90-day prognosis. Correlation analysis, Cox regression analysis, and receiver operating characteristic and Kaplan-Meier curve analyses were performed to assess the value of AG in predicting the 90-day survival of patients with PQ poisoning.Only 44 of the 108 patients with PQ poisoning survived; thus, the 90-day survival was 40.74%. AG levels at admission were significantly higher in nonsurvivors (26.53 ± 4.93 mmol/L) than in survivors (20.88 ± 2.74 mmol/L) (P  less then  .001) and negatively correlated with 90-day survival (r = -0.557; P  less then  .001). Cox regression analysis revealed that AG at admission is an independent prognostic marker of the 90-day survival of patients with PQ poisoning. AG level at admission had an area under the receiver operating characteristic curve of 0.836 (95% confidence interval 0.763-0.909) and an optimal cut-off value of 25.5 mmol/L (59.4% sensitivity and 95.5% specificity).AG level at admission may serve as a candidate marker for predicting the survival of patients with PQ poisoning.
BMPR2 mutation is the most common cause of heritable pulmonary arterial hypertension (HPAH), but rare in hereditary hemorrhagic telangiectasia (HHT). ACVRL1, ENG and SMAD4 are the most common gene mutations reported in HPAH with HHT.

We report a 11-year-old boy with a definite diagnosis of pulmonary hypertension and suspected HHT with recurrent epistaxis. The results of gene detection showed that there was a nosense mutation in BMPR2. The results of gene detection of ACVRL1, ENG and SMAD4 were normal.

Heritable pulmonary arterial hypertension with suspected hereditary hemorrhagic telangiectasia.

Patient was treated with ambrisentan 2.5 mg qd. About a month later, the patient developed massive gastrointestinal bleeding and sudden convulsions. The patient's vital signs were stable after symptomatic treatment.

After discharging from hospital, the patients continued to take ambrisentan. No epistaxis or gastrointestinal bleeding was found in one month of follow-up, but the symptoms of chest tightness were not significantly alleviated.

BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.
BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.Patients with non-small-cell lung cancer (NSCLC) often have a poor prognosis when brain metastases (BM) occur. This study aimed to evaluate the prognostic factors of BM in newly diagnosed NSCLC patients and construct a nomogram to predict the overall survival (OS).We included NSCLC patients with BM newly diagnosed from 2010 to 2015 in Surveillance, Epidemiology, and End Results database. Orforglipron molecular weight The independent prognostic factors for NSCLC with BM were determined by Cox proportional hazards regression analysis. We then constructed and validated a nomogram to predict the OS of NSCLC with BM.We finally included 4129 NSCLC patients with BM for analysis. Age, race, sex, liver metastasis, primary site, histologic type, grade, bone metastasis, T stage, N stage, surgery, chemotherapy, and lung metastasis were identified as the prognostic factors for NSCLC with BM and integrated to establish the nomogram. The calibration, receiver operating characteristic curve, and decision curve analyses also showed that the clinical prediction model performed satisfactorily in predicting prognosis.A clinical prediction model was constructed and validated to predict individual OS for NSCLC with BM. The establishment of this clinical prediction model has great significance for clinicians and individuals.
Hepatic alveolar echinococcosis (HAE) presents a high pathogenicity and case fatality rate. The main treatment for HAE is surgical resection. Giant lesions in the liver and invasion of the pathogen into the retrohepatic inferior vena cava are usually associated with a poor prognosis when radical resection cannot be performed.

A 56-year-old man who underwent hydatidectomy 7 years prior noted a recurrence of HAE. He was subsidized and admitted to our hospital for the purpose of surgical treatment.

By computed tomography, angiography and three-dimensional (3D) computed tomography reconstruction images, multiple, giant HAE with 75% stenosis was confirmed.

With the 3D visualization technique, we designed the surgical plan and performed radical resection of the lesions, including the invaded inferior vena cava, and maximized retention of normal liver tissue. The abdominal aorta of an organ donor was used for vascular allograft reconstruction.

The patient recovered gradually after the operation. He was followed up for 3 months, and the reconstructed vein patency was good.

The 3D visualization technique combined with a blood vessel allograft allowed us to expand indications for radical resection of extensive HAE.
The 3D visualization technique combined with a blood vessel allograft allowed us to expand indications for radical resection of extensive HAE.This study aimed to evaluate the imaging findings and prognostic factors after whole-brain radiotherapy in patients with carcinomatous meningitis from breast cancer.A retrospective analysis of imaging data and prognostic factors was performed in patients treated with whole-brain radiotherapy or whole-brain/spine radiotherapy immediately after the first diagnosis of carcinomatous meningitis from breast cancer at our hospital from January 1, 2010 to December 31, 2018. Statistical significance was set at P  less then  .05 (two-tailed).All patients (n = 31) were females with the mean age of 58.0 ± 11.0 years. The breast cancer subtypes were luminal (n = 14, 45.1%), human epidermal growth factor receptor 2 (HER2)-positive (n = 9, 29.0%), and triple-negative (n = 8, 26.0%) breast cancer. Brain metastasis and abnormal contrast enhancement in the sulci were observed in 21 (67.7%) and 24 (80.6%) patients, respectively. The median survival time after cancerous meningitis diagnosis was 62 (range, 6-657) days. Log-rank test showed significant differences in median survival time after cancerous meningitis diagnosis 18.
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