Objective To research the clinical characteristics and the arysulfatase A(ARSA) gene screening inafamily withametachromatic leukodystrophy and epilepsy child. Methods Clinical data were collected and ARSA gene were tested by PCR and Sanger sequencing in the pedigree． Results Two mutations in exon 2 of ARSA gene was identified in the proband includingaknown heterozygous missense mutation c.293C>T which was also found in his mother andanovel frameshift mutation c.302de1G. None of them was found in the proband’s brother. Conclusion The intractable epilepsy of the proband was related to his metachromatic leukodystrophy. Andanew frameshift mutation c.302delG was found in his ARSA gene, which haven’t reported around the world yet. Combined with the patient’s typical late infantile presentation, we speculated that the frameshift mutation c.302delG may be the cause of MLD.
ObjectiveTo introduce the progresses and applications of nutritional status assessment in hospitalized patients. MethodsThe related literatures of nutritional status assessment were reviewed. ResultsThe rates of malnutrition and nutritional risk were high in hospitalized patients worldwide. Traditional nutrition assessment tools were not in common use in all hospitalized patients. All clinical health care workers should use the most suitable tool when faced with different patients. ConclusionAll hospitalized patients should be screened for nutritional risk on admission in order to improve clinical outcomes and reduce overall treatment costs.
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.
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.
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.
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2. Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification. Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G＞ A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype. Conclusions The mutation of c.701G＞ A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.
ObjectiveTo investigate the levels of nutritional status, serum leptin, TNF-α, IL-8 and C-reactive protein(CRP) in patients with two clinical phenotypes of COPD. MethodsNutritional parameters, including body mass index, percent ideal body weight, triceps skin-fold thickness, mid-upper arm circumference, albumin, lymphocytes count, serum leptin, TNF-α, IL-8 and CRP levels were determined in 40 healthy controls and 120 patients with COPD. The COPD patients were divided into a typical emphysema type(A group) and a bronchitis type(B group), both groups included COPD patients in acute exacerbation phase and in stable phase. ResultsThe nutritional parameters in B group were higher than those in A group(P < 0.05). Serum leptin level was lower in stable A group and stable B group than that in the control group[(7.76±2.93) ng/L and (10.04±5.11) ng/L vs. (14.93±8.47) ng/L, P < 0.05], higher in A group[(12.99±5.56) ng/L)] and B group in acute exacerbation phase[(13.52±5.82) ng/L] than that in stable phase(P < 0.05), and lower in stable A group than that in stable B group (P < 0.05). Serum TNF-αlevel was higher in A group with acute exacerbation than that in B group with acute exacerbation and the control group[(234.65±95.74)μg/L and(195.03±88.00)μg/L vs. (182.07±42.35)μg/L, P < 0.05], and higher in stable A group than that in stable B group[(225.31±84.14)μg/L vs. (188.17±72.62)μg/L, P < 0.05]. Serum IL-8 level in A and B groups in acute exacerbation phase and stable phase was higher than that in the control group(P < 0.05), and was not significantly different between A group and B group in acute exacerbation or stable phase(P > 0.05). The CRP level was higher in A group and B group with acute exacerbation than that in the control group[(46.87±35.89) mg/L and(70.11±65.50) mg/L vs. (5.05±4.49) mg/L, P < 0.01], and higher in B group with acute exacerbation than that in A group with acute exacerbation (P < 0.05). ConclusionsThere are differences in nutritional status, serum leptin, TNF-αand CRP levels between the emphysema type and bronchitis type of COPD, while the IL-8 level is not different between two phenotypes. Leptin and TNF-αmay be involved in weight-loss of malnutritional COPD patients.
Objective To evaluate the efficiency and security of physical exercise with low intensity against malnutrition and sarcopenia in patients with cirrhosis. Methods Between December 2014 and October 2015, 37 patients with cirrhosis were divided into two groups according to their willings, with 19 in the exercise group and 18 in the control group. Endurance of the exercise for 3 months were recorded. Mid-arm circumference, " up and go” time, width of portal vein and Child-Pugh score were compared before and after the research between the two groups. Results Three months later, the mid-arm circumference and the " up and go” time of the exercise group [(33.99±2.15) cm, (9.17±0.35) s] were better than those before the exercise [(32.09±2.58) cm, (9.77±0.46) s] and those in the control group [(31.93±2.04) cm, (9.76±0.30) s], and the differences above were all statistically significant (P<0.05). The change of the width of portal vein was positively correlated with pre-exercise body mass index in overweight patients (r=0.93, P=0.007). Conclusions Physical exercise with low intensity is safe and effective against malnutrition and sarcopenia in patients with cirrhosis. Overweitht patiens or malnutrition at the early stage may benefit more.