ObjectiveTo explore the diagnostic efficacy of Geriatric Nutritional Risk Index (GNRI) in malnutrition of elderly patients with chronic obstructive pulmonary disease (COPD) in outpatient department. MethodsOne hundred and five elderly outpatients with COPD were enrolled in the study, and their nutritional screening was carried out. The clinical and laboratory parameters of patients in the normal nutrition group (high GNRI group) and malnutrition group (low GNRI group) were compared, and the correlation analysis was conducted. The diagnostic efficacy of GNRI was evaluated based on the malnutrition universal screening tool (MUST). ResultsThe prevalence of malnutrition was high in COPD elderly outpatients. The prevalence of malnutrition in group D was 61.8%. There were significant differences between the two groups in body mass index, serum albumin, FEV1 percentage in the predicted value, 6-minute walk distance, and the number of acute exacerbations in the past year. GNRI was significantly related to the above parameters. The sensitivity, specificity and accuracy of GNRI were 81.8%, 83.6% and 82.9%, using MUST as the standard. ConclusionGNRI can be used for nutritional screening of COPD patients in elderly outpatients, which is simple, convenient and relatively accurate, and can be popularized in other medical institutions.
ObjectiveTo observe the clinical manifestation and gene mutation of a pedigree with Sorsby fundus dystrophy (SFD). Methods Ten members in 3 generations of a pedigree with SFD were included in this study. Four patients were observed in the pedigree, including 2 females and 2 males. All 10 members underwent comprehensive ophthalmic examinations, including best-corrected visual acuity, intraocular pressure, slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus color photography and spectral domain optical coherence tomography. Genomic DNA was extracted from peripheral venous blood which was collected from all the members. Relevant exons of ocular diseases were detected by the next generation sequencing method from the proband. The other members underwent Sanger verification. Results Among the four patients, fading eyesight was appeared at their 44, 46, 47 and 40 year-old respectively. The two male patients had bilateral morbidity, and the two female patients had monocular symptoms. DNA sequencing results showed that the proband, other 3 patients and 2 members from the Ⅲ generation had heterozygous mutation of TIMP3 gene in exon 5. The amino acid encoded by TIMP3 gene No.204 codon changed from serine to cysteine (TIMP3:NM_000362:Exon5:c.A610T/p.S204C). CoclusionsThe invasion time of all the patients in this pedigree is after their 40 year-old. Heterozygous mutation at c.610A＞T (p.S204C) in TIMP3 gene is the causative gene of SFD in this pedigree.
Objective To investigate the nutritional status of hospitalized patients with chronic kidney disease (CKD), analyze the influencing factors, and construct a predictive model to provide a localized theoretical basis and more convenient risk prediction indicators and models for clinical nutrition support and intervention treatment of CKD patients in China. Methods Convenience sampling was used to select hospitalized CKD patients from Department of Nephrology, West China Hospital, Sichuan University, from January to October 2019. General information questionnaires, the Nutritional Risk Screening 2002 scale, and the Huaxi Emotional-distress Index questionnaire were used for data collection. Single factor analyses and multiple logistic regression analysis were conducted to explore the risk factors for malnutrition in CKD hospitalized patients. A predictive model was established and evaluated using receiver operating characteristic (ROC) curve analysis and bootstrap resampling. Results A total of 1059 valid copies of questionnaires were collected out of 1118 distributed. Among the 1059 CKD hospitalized patients, 207 cases (19.5%) were identified as having nutritional risk. The multiple logistic regression analysis showed that CKD stage [odds ratio (OR)=1.874, 95% confidence interval (CI) (1.631, 2.152), P<0.001], age [OR=1.015, 95%CI (1.003, 1.028), P=0.018], and the Huaxi Emotional-distress Index [OR=1.024, 95%CI (1.002, 1.048), P=0.033] were independent risk factors for malnutrition in CKD hospitalized patients, while serum albumin [OR=0.880, 95%CI (0.854, 0.907), P<0.001] was an independent protective factor. The evaluation of the multiple logistic regression analysis predictive model showed a concordance index of 0.977, standard deviation of 0.021, and P<0.05. The area under the ROC curve was 0.977. Conclusions The prevalence of malnutrition is relatively high among CKD hospitalized patients. CKD stage, age, psychological status, and serum albumin are influencing factors for malnutrition in CKD hospitalized patients. The multiple logistic regression model based on the above indicators demonstrates good predictive performance and is expected to provide assistance for early nutritional intervention to improve the clinical outcomes and quality of life for CKD patients with malnutrition in China.
ObjectiveTo understand the mechanisms of malnutrition in patients with gastric cancer (GC) and which affecting on therapy outcomes, and explore effective nutritional intervention strategies so as to improve general therapy outcomes for patients with GC. MethodThe literature on studies relevant malnutrition in the patients with GC both domestically and internationally was reviewed and analyzed. ResultsThe mechanisms of malnutrition in the patients with GC are complex and diverse, including abnormal tumor metabolism, side effects of treatment, psychological and economic factors, etc. The malnutrition made the mortality and recurrence rates increase, hospital stay prolong, and medical costs elevate, meanwhile led to the multiple complications. The use of various screening tools could effectively assess the malnutrition status at the different therapy stages, then the individualized nutritional therapy plans could be developed based on the assessment results. These plans included oral nutrition, enteral nutrition, parenteral nutrition, and immunonutrition. ConclusionsMalnutrition severely affects the treatment outcomes and quality of life of patients with GC. It is necessary to timely screen and assess. The reasonable nutritional support plan should be chosen based on the patient’s individualized situation. Future research should be needed to explore the long-term efficacy and safety of nutritional support, optimize the application of immunonutrition and parenteral nutrition, and enhance the general treatment outcomes for patients with GC.
Objective To study the clinical features and prognosis of recurrent pneumonia associated with myotonic dystrophy. Methods A case of recurrent pneumonia related to myotonic dystrophy was retrospectively analyzed and the related literatures were reviewed. Results The patient was a 32-year-old man with recurrent fever, cough and expectoration for more than 10 years. He was diagnosed as " pneumonia” in the local hospital at every relapse, and improved after antibiotic therapy. Nine months ago, the symptoms of fever, cough and expectoration aggravated. The chest X-ray examination showed consolidation in right middle and lower lobe. After 2-month antibiotic treatment, the symptoms relieved. Then he was admitted to Beijing Anzhen Hospital for further diagnosis and treatment. Physical examination revealed " hatchet-faced” appearance with neck muscles atrophy and slightly flexion. Bilateral sternocleidomastoid muscle symmetrically rised. Few moist rales of bilateral lower lung were found. Lateral elbow and femoral quadriceps muscles symmetrically rised. The muscle strength of his four distal limbs became weakness, and the squat and standing movement was difficult. Chest CT showed pathy effusion and consolidation in right middle lobe and the lower left lobe. Electromyography showed myogenic damage in left extensor digitorum, left deltoid, right anterior tibial muscle, femoral quadriceps muscle, and left sternocleidomastoid, and spontaneous myotonic discharges in left extensor digitorum, right anterior tibial muscle and left sternocleidomastoid. Pathologic examination of left femoral quadriceps muscle showed inflammatory myopathy. The final diagnosis was myotonic dystrophy associated recurrent pneumonia. Two articles revolving 2 cases were retrieved in English literature. No case was reported in Chinese literature. Conclusion The possibility of myotonic dystrophy should be considered in the case of recurrent pneumonia complicated with muscle atrophy, weakness and myotonia.
Objective To analyze the pathogenic gene and clinical phenotypes of a family affected with rare sector retinitis pigmentosa (sector RP). Methods A retrospective clinical study. A patient with sector RP diagnosed in Renmin Hospital of Wuhan University and his parents were included in the study. Detailed medical history was collected; best corrected visual acuity (BCVA), fundus color photography, autofluorescence (AF), visual field, optical coherence tomography (OCT), electroretinogram, fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA) examination were performed. The peripheral venous blood of the patient and his parents were collected, and DNA was extracted. A whole exon sequencing was used for the proband. The mutations were verified by targeted Sanger sequencing and quantitative polymerase chain reaction. Bioinformatics analysis and cosegregation analysis were performed. ResultsThe proband, a 17-year-old male, had presented with gradually decreased vision in the past 2 years with BCVA of 0.4 in both eyes. Retinal vessels attenuation and macular dystrophy without obvious pigmentation on the fundus were observed. AF showed, in bilateral eyes, a symmetrical hypo-autofluorescent region only in the inferonasal quadrant and “petal-like” hyper-AF macula. The visual field examination showed defects in the superotemporal quadrant corresponding to the affected retina. OCT showed loss of the photoreceptor layer except for the foveal region. Electroretinogram examination presented reduced scotopic wave peaks and extinct photopic response. FFA and ICGA showed the atrophy retinal pigment epithelium around the optic disk and in the inferior retina. The clinical phenotypes of the parents were normal. The whole exon sequencing identified one mutation in SPATA7 gene, c.1112T>C (p.Ile371Thr) in exon10 and a copy number variation in trans. The missense mutation resulted in the change of isoleucine to threonine at amino acid 371 in the encoded SPATA7 protein, and the mother carried this heterozygous mutation c.1112T>C. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for classification of genetic variants, the missense mutation was classified as the uncertain significance. The CNV, originating from his father, contributed to the loss of exon10 and was confirmed as the likely pathogenic variant. ConclusionsThe macula can be involved in sector RP, leading to the macular dystrophy. The missense variant in SPATA7 gene, c.1112T>C (p.Ile371Thr), might be a pathogenic mutation site in this pedigree.