Objective To investigate the characteristics and clinicopathology of v-raf murine sarcoma viral oncogene homolog Bl(BRAF)V600E mutations in papillary thyroid carcinoma(PTC)in Air Force flight personnel.Methods Data of cases and test results of BRAF V600E mutation were collected from Air Force aviators pathologically diagnosed with PTC.A univariate analysis of the relationship between BRAF V600E mutations and clinicopathologic features was performed.Results The overall rate of BRAF V600E mutations among 55 PTC flight crew members was 70.91％.The univariate analysis showed that the number of lymph node metastases in the BRAF V600E mutated group was larger than in the BRAF V600E unmutated group,and the proportion of BRAF V600E mutations in flight crews at intermediate risk of recurrence was higher than that in those at low risk of recurrence(P＜0.05).The presence or absence of BRAF V600E mutations did not affect the results of medical evaluation of PTC in flight personnel.Conclusion The rate of PTC BRAF V600E mutations in Air Force flight crews is similar to that of the general Chinese population.BRAF V600E mutations are associated with an increased number of lymph node metastases and risk of recurrence,and follow-up is recommended for flight personnel with PTC,especially those with BRAF V600E mutations.

Clinicians need to focus on various points in the diagnosis and treatment of insomnia.This article prescribed the treatment protocol based on the unique features,such as insomnia in the elderly,women experiencing specific physiologi-cal periods,children insomnia,insomnia in sleep-breathing disorder patients,insomnia in patients with chronic liver and kidney dysfunction.It pro-vides some reference for clinicians while they make decision on diagnosis,differentiation and treat-ment methods.

OBJECTIVE: To explore the genetic basis for fetus with bilateral lateral ventriculomegaly. METHODS: Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship. RESULTS: The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy. CONCLUSION The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.
Pregnancy ; Female ; Humans ; Classical Lissencephalies and Subcortical Band Heterotopias ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Fetus ; Hydrocephalus ; Prenatal Diagnosis ; Chromosome Deletion

Objective:To evaluate the efficacy and safety of linaclotide with polyethylene glycol in bowel preparation.Methods:From September 2021 to February 2022, 240 patients who visited the Department of Gastroenterology, Third People′s Hospital of Hubei Province, Jianghan University and underwent colonoscopy were selected. According to the random number table, in the ratio of 1 to 1, the patients were divided into the linaclotide with polyethylene glycol group and the simple polyethylene glycol group, with 120 cases in each group. The patients in the linaclotide with polyethylene glycol group took 580 μg linaclotide and 2 L polyethylene glycol electrolyte powder solution, and the patients in the simple polyethylene glycol group took 3 L polyethylene glycol electrolyte powder solution. The Boston bowel preparation scale(BBPS) score, the detection rate of polyps or adenomas, the insertion time of colonoscopy, the withdrawal time of colonoscopy, the time of the first defecation, the frequency of defecations, the success rate of cecal intubation, the occurrence of adverse effects and the satisfaction rate of patients were compared between the 2 groups. Independent sample t test and chi-square test were used for statistical analysis. Results:A total of 235 patients completed bowel preparation and accepted colonoscopy. There were no statistically significant differences in the BBPS score, the detection rate of polyps or adenomas, the insertion time of colonoscopy, the withdrawal time of colonoscopy, the success rate of cecal intubation and the frequency of defecations between the linaclotide with polyethylene glycol group and simple polyethylene glycol group(7.3±1.1 vs. 7.0±1.2; 58.1%, 68/117 vs. 60.2%, 71/118; 38.5%, 45/117 vs. 39.8%, 47/118; (4.2±1.9) min vs.(4.3±1.6) min; (5.9±2.7) min vs.(6.2±2.4) min; 100.0%, 117/117 vs. 100.0%, 118/118; 5.3±2.3 vs. 5.1±2.7; all P>0.05). The rate of adverse effects of the linaclotide with polyethylene glycol group was lower than that of simple polyethylene glycol group(25.6%, 30/117 vs. 39.8%, 47/118), the satisfaction rate of patients was higher than that of the simple polyethylene glycol group (93.2%, 109/117 vs. 76.3%, 90/118), and the differences were statistically significant( χ2=0.24 and 0.64, P=0.018 and 0.031). Conclusion:Compared with the 3 L polyethylene glycol regimen, 580 g linaclotide with 2 L polyethylene glycol regimen can achieve the same bowel preparation effect with higher safety and patient satisfaction, which is worthy of clinical application.

Objective:To evaluate the effects of comprehensive rehabilitation nursing based on guided education and training on rehabilitation treatment in school-age children with drug-resistant epilepsy undergoing epileptogenic focus resection.Methods:Fifty movement disorders school-age children with drug-resistant epilepsy undergoing epileptogenic focus resection in Institute of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University from January 2017 to December 2019 were enrolled in this study. The child patients were divided into the control group and the observation group according to the order of admission, with 25 cases in each group, and the control group was from January 2017 to June 2018 while the observation group was from July 2018 to December 2019. In the control group, routine nursing after epileptogenic focus resection and functional exercise were conducted. The observation group was treated with comprehensive rehabilitation nursing based on guided education and training. On the third day after operation, the day of discharge respectively, the motor function and activity of daily living of the two groups were evaluated. The satisfaction of children′s parents on nursing was compared between the two groups.Results:The scores of motor function on the third day after operation and the day of discharge were (57.0 ± 6.8), (73.0 ± 5.4) points respectively in the observation group, and those in the control group were (55.0 ± 5.6), (65.6 ± 5.9) points. There were significant differences intra group comparison ( t=-9.26, -6.48, both P<0.05). The activity of daily living scores on the third day after operation and the day of discharge were (45.2 ± 5.9), (74.2 ± 8.3) points respectively in the observation group, and those in the control group were (44.0 ± 5.8), (60.2 ± 7.6) points. There were significant differences intra group comparison ( t=-14.33, -8.51, both P<0.05). There were significant differences between the scores of motor function and the ability of daily living scores on the day of discharge in the observation group and the control group ( t values were -4.65, -6.25, both P<0.05). The satisfaction of children′s parents on nursing in the observation group and the control group were 96.0% (24/25), 72.0% (18/25) respectively. There was significant difference between the two groups ( χ 2=8.78, P<0.05). Conclusions:Rehabilitation nursing based on guided education and training can improve motor function and ability of daily living in movement disorders school-age children with drug-resistant epilepsy undergoing epileptogenic focus resection, promote the functional recovery of children after surgery and increase the satisfaction of children′s parents on nursing.

Objective To observe the relation of phase angle (PA) measured by bioelectrical impedance method with nutritional status of patients with primary liver cancer, and to explore its influence on clinical outcomes. Methods We collected 120 inpatients with primary liver cancer for nutritional risk screening, patient-generated subjective nutrition assessment(PG-SGA), anthropometry, biochemical examination and body composition analysis. According to the phase angle, the patients were divided into low PA group and normal PA group. The correlation between PA and nutrition-related indicators was analyzed. The survival and complications of the two groups were compared after 1-year follow-up. Results There were 56.7% (68/120) of primary liver cancer patients with lower PA. TP, ALB, CHE, HB, AMC, GS, BCM, FFM and ASMI in low PA group were lower while ECW/TBW was higher than those in normal PA group (all P < 0.05). The correlation analysis showed that PA was negatively correlated with ECW/TBW (P < 0.05), but positively correlated with TP, ALB, CHE, HB, AMC, GS, BCM, FFM and ASMI (all P < 0.05). Low PA was significantly associated with nutritional risk, deterioration of liver function, progress of liver cancer staging and severe malnutrition (all P < 0.05). During the follow-up period, the mortality of the low PA group was higher than that of the normal PA group (P < 0.05). The risk of death in the low PA group increased by 2.738 times (OR=3.738, 95%CI: 1.465-9.535). Conclusion Phase angle is an economic and effective index to reflect the nutritional status of patients with primary liver cancer, and closely related to the risk of death. Phase angle measurement is helpful for assessing nutritional status and predicting clinical outcome of patients with primary liver cancer.

Malnutrition, sarcopenia, and osteoporosis are common nutrition-related complications in patients with liver cirrhosis. Sarcopenia is an important manifestation of malnutrition, while malnutrition and sarcopenia are risk factors for osteoporosis. There is a close relationship among them, and they all have adverse effects on the clinical outcomes and prognosis of patients with liver cirrhosis. Therefore, it is necessary to identify them as early as possible and take active measures for prevention and treatment. Insufficient intake of nutrients, metabolic disorders, abnormal hormone levels, and lack of physical activity all contribute to the development of malnutrition, sarcopenia, and osteoporosis in patients with liver cirrhosis. In addition, medications commonly used in the treatment of liver diseases, such as glucocorticoids and some antiviral drugs, may have potential impact on bone metabolism, which needs to be taken seriously in clinical practice. Reasonable nutritional intervention, appropriate exercise, and treatment of underlying diseases are the basis of the prevention and treatment of malnutrition, sarcopenia, and osteoporosis. Some targeted drugs can improve these nutrition-related complications, which needs to be confirmed by further studies.

The measurement of serum alkaline phosphatase (ALP) levels has been widely used in the clinical setting. However, isolated elevation of serum ALP levels is also commonly seen and needs to be extensiuely evaluated Herein, we present a case of gastric adenocarcinoma with disseminated carcinomatosis of the bone marrow (DCBM). In this case, isolated elevation of serum ALP levels was the only clinical manifestation with no other notable symptom. Additionally, imaging studies including whole body computed tomography (CT) and positron emission tomography-CT (PET-CT) were all negative, which resulted in the misdiagnosis of Paget′s disease of bone initially. This highlights that malignancies involving bones presenting with isolated elevation of serum ALP levels might be misdiagnosed in asymptomatic individuals.

BACKGROUND: Perioperative treatment has become an increasingly important aspect of the management of patients with non-small cell lung cancer (NSCLC). Small-scale clinical studies performed in recent years have shown improvements in the major pathological remission rate after neoadjuvant therapy, suggesting that it will soon become an important part of NSCLC treatment. Nevertheless, neoadjuvant immunotherapy may be accompanied by serious adverse reactions that lead to delay or cancelation of surgery, additional illness, and even death, and have therefore attracted much attention. The purpose of the clinical recommendations is to form a diagnosis and treatment plan suitable for the current domestic medical situation for the immune-related adverse event (irAE). METHODS: This recommendation is composed of experts in thoracic surgery, oncologists, thoracic medicine and irAE related departments (gastroenterology, respirology, cardiology, infectious medicine, hematology, endocrinology, rheumatology, neurology, dermatology, emergency section) to jointly complete the formulation. Experts make full reference to the irAE guidelines, large-scale clinical research data published by thoracic surgery, and the clinical experience of domestic doctors and publicly published cases, and repeated discussions in multiple disciplines to form this recommendation for perioperative irAE. RESULTS: This clinical recommendation covers the whole process of prevention, evaluation, examination, treatment and monitoring related to irAE, so as to guide the clinical work comprehensively and effectively. CONCLUSIONS Perioperative irAE management is an important part of immune perioperative treatment of lung cancer. With the continuous development of immune perioperative treatment, more research is needed in the future to optimize the diagnosis and treatment of perioperative irAE.

Sarcopenia is a common complication in patients with liver cirrhosis, which has an adverse effect on the clinical outcome and prognosis. Attention must be paid to early detection and active diagnosis and treatment. Clinically, the diagnosis process of finding suspicious cases can be traced through screening-assessment-diagnosis-severity evaluation. On the ground of treating liver cirrhosis and its complications, reasonable nutritional intervention and exercise are currently important measures for the treatment of liver cirrhosis with sarcopenia, and the role of hormone supplementation and drug therapy for skeletal muscle metabolism needs to be further investigated.