【摘要】 目的 探讨使用营养风险筛查（nutritional risk screening，NRS）2002与生理生化指标联合评估大肠癌患者术前营养及二者的定量关系。 方法 对2008年4月-2009年3月收治的367例大肠癌患者，用NRS 2002与生理生化指标分别评估其术前营养风险和营养状况，对其进行相关性分析。 结果 有28%的大肠癌患者术前即存在营养风险，各评价指标对营养不良状况的检出率存在差异（9.3%～31.6%），且NRS 2002营养风险评分与血红蛋白（r=-0.117，P=0.025）、血清前白蛋白（r=-0.205，P=0.046）、血清白蛋白（r=-0.175，P=00.001）、体量质指数（r=-0.231，P=0.000）均呈负相关。 结论 大肠癌患者术前即存在较高的营养风险和营养不良，且营养风险与术前营养状况有关。【Abstract】 Objective To assess the preoperative nutritional risks and status of patients with colorectal cancer by nutritional risk screening 2002 (NRS 2002) combined with physiological-biochemical indicators, and explore their quantitative relationship. Methods NRS 2002 combined with physiological-biochemical indicators were applied on the 367 patients with colorectal cancer in Gastrointestinal Surgery Center in West China Hospital between April 2008 and March 2009 to assess their nutritional risks and status, and correlation analysis was done to explore their quantitative relationship. Results Among all the patients, 28% had preoperative nutritional risks. Different physiological-biochemical indicators detected different rates of malnutrition (9.3% to 31.6%), and there was a negative correlation between NRS 2002 and such physiological-biochemical indicators as hemoglobin (r=-0.117,P=0.025), pre-albumin (r=-0.205,P=0.046), albumin (r=-0.175,P=0.001), and body mass index (r=-0.231,P=0.000). Conclusion Many colorectal cancer patients have preoperative nutritional risks and malnurtrion, and the nutritional risks are correlated with preoperative nutritional status.
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 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.
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 observe and analyze the gene mutation and clinical phenotype of patients with cone and rod dystrophy (CORD). MethodsA pedigree investigarion. Two CORD pedigrees including 2 patients and 6 family members were enrolled in Ningxia Eye Hospital of People' Hospital of Ningxia Hui Automous Region for this study. The patients were from 2 unrelated families, all of whom were probands. Take medical history with best-corrected visual acuity (BCVA), color vision, slit lamp microscopy, indirect ophthalmoscopy, fundus color photography, optical coherence tomography (OCT), autofluorescence (AF), fluorescein fundus angiography (FFA), electroretinogram (ERG). The peripheral venous blood of patients and their parents was collected, whole genome DNA was extracted, Trio whole genome exome sequencing was performed, Sanger verification and pedigree co-segregation were performed for suspected pathogenic mutation sites. According to the law of inheritance, family history was analyzed to establish its genetic type. Mutational loci pathogenicity was analyzed according to the American College of Medical Genetics (ACMG) guidelines and 4 online tools. ResultsTwo CORD families showed autosomal recessive inheritance. The proband of pedigree 1 was female, 49 years old. Binocular vision loss with photophobia lasted for 9 years and night blindness for 4 years. The BCVA of right eye and left eye were 0.03 and 0.06, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The proband of pedigree 2 was male, 30 years old. Vision loss in both eyes for 4 years. Denying a history of night blindness. The BCVA of right eye and left eye were 0.3 and 0.2, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The color of optic disc in both eyes was light red, the macular area was atrophic, the foveal reflection disappeared, and the peripheral retina was punctate pigmentation. The main fundus changes in 2 patients were macular atrophy. The proband of pedigree 1 carried compound heterozygous variations c.439-2A>G (M1) and c.676delT (p.F226fs) (M2) on CDHR1 gene. Her father and mother carried M2 and M1 heterozygous mutations, respectively. The proband of pedigree 2 carried compound heterozygous variations c.2665dupC (p.L889fs) (M3) and c.878T>C (p.L293P) (M4) on C2orf71 gene. His father and mother carried M4 and M3 heterozygous mutations, respectively. According to ACMG guidelines and on line tools, 4 variations were considered as pathogenic level. ConclusionsM1 and M2 of CDHR1 gene and M3 and M4 of C2orf71 gene are new pathogenic mutations of CORD. All patients presented with the clinical phenotype of decreased visual acuity and macular atrophy.
Objective To summarize the nutritional assessment methods for liver cancer patients and their development, and to provide reference for rationally nutritional assessment and nutritional support. Method Domestic and foreign literatures were searched to summarize the nutritional assessment methods for liver cancer patients and their development, in order to determine a practical and feasible assessment method. Results The evaluation validity of traditionally nutritional assessment methods which contained many individual indicators was low. But subjective global assessment (SGA), mini nutritional assessment (MNA), and nutritional risk screening 2002 (NRS-2002) had similar evaluation validity, this 3 kinds of nutritional assessment methods were more suitable for liver cancer patients compared with the traditionally nutritional assessment methods. Conclusion The clinician should simultaneously apply SGA, MNA, NRS-2002, and other comprehensively nutritional assessment methods, as well as related anthropometric and laboratory indexes, to get a more accurate assessment of the nutritional status for patients with liver cancer.
ObjectiveTo systematically review the therapeutic effects and safety of glucocorticoids (GC) for Duchenne muscular dystrophy (DMD). MethodsDatabases such as PubMed, EMbase, CENTRAL, CNKI, WanFang Data, VIP and CBM were electronically searched from the establishment of the databases till December 2011. All randomized controlled trials (RCTs) about GC for DMD were included. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data, and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.0.2 software. ResultsA total of 6 studies involving 303 DMD children were included. The results of meta-analysis showed that after 6 month treatment of GC (deflazacort), patients' symptoms were obviously improved in average muscle strength, lift weight ability, forced vital capacity (FVC) of the lung, emotional factor scores and total scores in Quality of life (QoL), Gower's time, nine meters walking time (T9 m), and four-stair climbing time (T4 s). However, the trial group showed more weight gain, behavioural changes, increased appetite, cushingoid appearance, and excessive hair growth. The incidences of osteoporosis/fracture, hypertension, diabetes, and cataract were not increased. ConclusionGC could improve muscle strength and function, stabilize pulmonary function, prolong independent walk time, and improve QoL of DMD patients. However, adverse reaction caused by GC should be taken caution.