Objective To assess the prevalence of malnutrition in patients with advanced non-small cell lung cancer (NSCLC) using the Global Leadership Initiative on Malnutrition (GLIM) criteria, analyze its associated factors, and explore the adverse effects of malnutrition on advanced NSCLC patients in multiple aspects. Methods Patients with NSCLC who were hospitalized for the first time in the Department of Oncology, Shangjin Hospital, West China Hospital, Sichuan University between January and December 2021 were retrospectively selected as the study objects. Malnutrition assessment was carried out in all patients according to GLIM criteria, and the current situation and related factors of malnutrition were analyzed. The Barthel index scale was used to compare the daily activity ability between the malnourished group and the non-malnourished group, the Quality-of-Life Questionnaire-Core 30 scale was used to compare the quality of life between the two groups, and the adverse reactions of the two groups were compared by the hospital information system course records. Results According to GLIM diagnostic criteria, 134 of 285 patients (47.0%) were diagnosed with malnutrition. The results of binary multiple logistic regression analysis showed that age [60-69 vs. <60 years old: odds ratio (OR)=2.323, 95% confidence interval (CI) (1.277, 4.397); ≥70 vs. <60 years old: OR=10.816, 95%CI (4.185, 27.959)], previous medical history [OR=2.740, 95%CI (1.313, 5.717)], and albumin level [OR=0.905, 95%CI (0.848, 0.965)] were associated with malnutrition in patients with advanced NSCLC (P<0.05). The daily activity ability and quality of life in the malnourished group were significantly worse than those in the non-malnourished group (87.57±12.48 vs. 91.82±6.77, P<0.05; 76.22±11.52 vs. 83.96±9.75, P<0.05), and the incidence of adverse reactions in the malnourished group was higher than that of the non-malnourished group (50.7% vs. 31.8%, P<0.05). Conclusions The prevalence of malnutrition in patients with advanced NSCLC is high, and advanced age, previous medical history and albumin are related factors of malnutrition in patients with advanced NSCLC. Combined malnutrition may have adverse effects on mobility, quality of life and adverse effects of anti-tumor therapy in advanced NSCLC patients.
Duchenne muscular dystrophy is an X-linked inherited progressive degenerative muscle disease caused by mutations in the dystrophin gene, and is one of the most common progressive muscular dystrophies. We will review the selection of genetic diagnosis methods for Duchenne muscular dystrophy, the selection of experimental animal models, and treatment for the primary cause (including gene replacement therapy, exon skipping therapy, genome editing, stop codon read-through therapy, and stem cell therapy), the treatment of secondary pathological reactions and methods of assessing disease progression. The purpose is to enrich clinicians’ knowledge of the disease and provide a reference and help for the clinical diagnosis and treatment of Duchenne muscular dystrophy.
ObjectiveTo summarize the research progress of the pathogenesis, diagnosis and treatment of sarcopenia in liver cirrhosis. MethodThe relevant literatures on studies of the pathogenesis, diagnosis and treatment of sarcopenia in liver cirrhosis in recent years were searched and reviewed. ResultsThe sarcopenia was a major complication that could not be ignored in patients with liver cirrhosis, and was closely related to the patient’s quality of life and prognosis. Various mechanisms such as metabolic abnormalities, malnutrition, myostatin, hyperammonemia, hormonal regulation of muscle homeostasis, ubiquitin-proteasome system and autophagy, physical activity, and dysbiosis of the intestinal flora were involved in the development of sarcopenia. There were various diagnostic methods for sarcopenia, but a unified gold standard was still lacking. In addition, some progress had been made in the treatment of sarcopenia in recent years. ConclusionsAlthough current studies obtains preliminary results about relation between liver cirrhosis and sarcopenia, there still exists many problems to be solved. Further research in future will benefit diagnosis and treatment of patients with sarcopenia in liver cirrhosis.
目的 探索微型营养评估简易法（MNA-SF）能否客观、正确地评估老年住院患者的营养状况以及对临床预后进行预测。 方法 选择2012年3月－4月四川大学华西医院新入院老年患者407例，平均年龄（75.4 ± 7.10）岁，以MNA-SF评估其营养状态并根据营养状态分为两组，随访至出院或住院第30 d，分析其营养状况与住院时间，住院费用，全身炎症反应综合征（SIRS），死亡等临床结局的相关性。 结果 营养不良者22.6%（92例），营养不良风险者31.9%（130例），营养状态良好者45.5%（185例）。其中34例营养不良者，18例营养不良风险者和4例营养良好者发生SIRS；另有11例营养不良者，7例营养不良风险者和1例营养良好者死亡。MNA-SF分值在0～7分的患者无论在发生SIRS还是临床不良结局方面显著高于分值为8～14分的患者（P＜0.05）。营养不良者住院时间为（14.6 ± 8.30）d，营养不良风险或营养良好者为（12.1 ± 7.99）d，差异具有统计学意义（P＜0.05）。 结论 MNA-SF是一可靠，简便易行，可以预测老年住院患者临床预后的营养评估工具。
ObjectiveThe clinical phenotypes and pathogenicity of isolated cone-rod dystrophy (CORD) caused by two novel complex heterozygous variants of the CEP290 gene were analyzed using high-resolution multi-mode imaging and gene detection techniques. MethodsA retrospective study. Two patients and two family members from a CORD family who were diagnosed by genetic testing at Henan Provincial People's Hospital in December 2021 were included in the study. All subjects underwent best-corrected visual acuity (BCVA), color fundus photography, autofluorescence, swept-source optical coherence tomography (SS-OCT), adaptive optics fundus imaging, static threshold field, full field and multiple electroretinogram (ERG) examination, as well as other systemic examinations throughout the body. The peripheral venous blood of the subjects was collected, and the whole genome DNA was extracted. DNA sequencing was performed using the Inherited Retinal Disease Kit PS400, and Sanger verification and pedigree co-segregation analysis were performed on the suspected pathogenic mutation sites. Validation was performed by Sanger sequencing, pathogenicity analysis was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Conservation of variation among different species was analyzed by GERP++, Clustal Omega and Weblogo. ResultsBoth patients were male, and their ages were 21 and 29 years old, respectively. The right eye and left eye about BCVAs were 0.7, 0.4 and 0.3, 0.4, respectively. The full field and multiple electroretinogram ERG showed a decreased function of cones and rods, especially cones. SS-OCT showed thinning of the outer nuclear layer of macular, and attenuation of ellipsoid zone reflectivity in B-scan. Adaptive optics fundus imaging examination showed that the arrangement of cone cells in the fovea of the fovea was disordered and the density decreased, and the retinal pigment epithelial cells were seen through the atrophy of cone cells in some areas at 10°visual angle. No obvious abnormality was found in other systemic examinations of the whole body. Genetic testing showed that 2 novel compound heterozygous variants c.950T >A (p.Leu317*) (M1) and c.4144_4149del (p.Tyr1382_Glu1383del) (M2) in CEP290 were found in two patients. The first variant was predicted to be harmful in MutationTaster and CADD. GERP++ showed highly conserved among different species. The pathogenicity of the variant was suspected to be likely pathogenic according to ACMG guidelines. The pathogenicity of the second variant was uncertain significance. The parents of the proband had no similar ocular abnormalities. Verified by Sanger sequencing, it was consistent with co-separation in the family. ConclusionsPatients with pure CORD caused by CEP290 gene mutation still retain better vision when the cone structure is abnormal, the density is decreased, and the function of cone and rod cells is decreased. CEP290 M1 and M2 are newly discovered nonsense mutations and newly discovered deletion mutations, which expanded the causative gene spectrum of pure CORD.
ObjectiveTo investigate the nutritional risk, incidence of malnutrition, and clinical application of nutrition support in hospitalized patients with gastric cancer by the nutritional risk screening (NRS) 2002 score summary table. MethodsFrom June 2009 to February 2010, nutritional risk screen and application of clinical nutritional support were carried out in the hospitalized patients with gastric cancer in this hospital. Nutritional risk was assessed case-by-case according to the severity of illness, nutritional status 〔including body mass index (BMI), recent changes in body weight and eating〕 and patients age. NRS ≥3 was accepted as nutritionally at-risk, while NRS lt;3 no nutritional risk; BMI lt;18.5 kg/m2 (or albumin lt;30 g/L) combined with clinical conditions was judged to be malnourished. Results Three hundreds and eighty-six patients were included, 329 of which completed the NRS2002 screening. One hundred and sixty-five patients (50.15%) were at nutritional risk, while another 164 (49.85%) were no nutritional risk. Malnutrition was found in 57 patients (17.33%). By gender, male malnourished patients and nutritionally at-risk patients were accounting for 16.45% (38/231) and 48.05% (111/231) respectively, while female nutritionally at-risk patients and malnourished patients were accounting for 55.1% (54/98) and 19.39% (19/98) respectively, 72.04% (237/329) of the screened patients accepted clinical nutrition support, among which, 115 patients were at nutritional risk, accounting for 69.70% in that group, and 122 patients were no nutritional risk, accounting for 74.39% in that group. ConclusionsThe incidences of malnutrition and nutritionally at-risk in hospitalized gastric cancer patients are high. And irrationality of clinical nutrition support exists. Evidence-based guidelines are required to improve the nutritional status of support.