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.
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 explore the value of sarcopenia index (SI) in the diagnosis of malnutrition in colorectal cancer patients.MethodsA retrospective study was carried out to study on 126 colorectal cancer patients who underwent chemotherapy in West China Hospital of Sichuan University between January 2015 and June 2019. SI and body mass index (BMI) were used for malnutrition diagnosis, and the detection rate of malnutrition was compared.ResultsThe detection rate of malnutrition diagnosed by SI (92.1%) was higher than that by BMI (38.1%) with a statistical difference (P<0.001). Subgroup analysis showed: the detection rate of malnutrition diagnosed by SI vs. BMI in male patients was 97.0% vs. 28.4%, with a statistical difference (P<0.001), and that in female patients was 86.4% vs. 49.2%, with a statistical difference (P<0.001); the detection rate of malnutrition diagnosed by SI vs. BMI in elderly patients (≥65 years) was 92.6% vs. 27.8%, with a statistical difference (P<0.001), and that in young and middle-aged patients (<65 years) was 91.7% vs. 45.8%, with a statistical difference (P<0.001).ConclusionUsing SI to diagnose malnutrition for colorectal cancer patients is worth popularizing for it can discover hidden malnutrition patients.
ObjectiveTo observe the safety of 2-port non-vitrectomized subretinal injection (SRI) for the treatment of Bietti crystalline dystrophy (BCD). MethodsA exploratory clinical study. From February to May 2023, 6 BCD patients with 6 eyes who were confirmed by examination in Xiamen Eye Center of Xiamen University and were treated with SRI adeno-associated virus vector transgenic drugs were included in the study. Among them, 2 males had 2 eyes and 4 females had 4 eyes. Age were 34-60 years old. The study eye underwent adeno associated virus gene therapy via 2-port non-vitrectomized SRI. Two scleral ports were created using 25G vitrectomy trocar to place the light pipe and injection cannula. Anterior chamber paracentesis was performed to lower intraocular pressure. Under the silicone oil infusion mode of the vitrectomy machine, a 38G injection cannula penetrated the retina to reach the subretinal space. The injection speed was controlled by the foot pedal of the vitrectomy machine, and the drug was slowly injected into the subretinal space to create a subretinal bleb. if intra-ocular pressure assessed by finger palpation was high at the end of injection, drainage of the aqueous humor can be made by compressing the cornea incision until the intraocular pressure was normal. Patients were followed for 9-12 months and be examined using the same equipment and methods as before. ResultsRetinal pigment epithelium and choroidal atrophy were observed in all 6 eyes of 6 patients were graded as stage Ⅲ by the fundus examination revealing atrophy of retinal pigmented epithelium and choroid, with or without yellow-white crystals and/or complex lipid. The range were operation time 9-14 minutes. No vitreous prolapse, retinal hemorrhage, or retinal tear was observed during surgery. After 24 hours, optical coherence tomogrophy examination showed absorption of subretinal fluid and retinal reattachment. None of the six patients showed corneal keratic precipitates, anterior chamber cells, vitreous cells, inflammation, high intraocular pressure, or retinal tear within the 9-month follow-up. ConclusionSubretinal injection without vitrectomy using two ports is a safe and feasible alternative for adult gene therapy, and it shortens the surgical time.
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.
With the advancement of research on rare ocular diseases such as inherited retinal dystrophy (IRD) has advanced in recent years, especially breakthroughs in therapeutic approaches represented by cell and gene therapy, potential intervention strategies have emerged for these conditions. Establishing standardized endpoints and evaluation methods for visual function in patients with IRD has become crucial for assessing disease progression, safety, and therapeutic efficacy of innovative treatments. Best corrected visual acuity (BCVA) is widely recognized as one of the primary endpoints for assessing visual function. However, for IRD patients with severe rod photoreceptor dysfunction, who often present with profound low vision or even legal blindness, the applicability of BCVA as a traditional visual function indicator is limited. The multi-luminance mobility test (MLMT) has emerged as a functional visual assessment tool that evaluates the ability to navigate obstacle courses under varying illumination levels. By establishing graded evaluation standards, MLMT objectively quantifies the impact of lighting conditions on patients’ nobility and spatial orientation, providing a novel quantitative tool for assessing visual function in IRD clinical trials. Currently, there is a lack of unified and standardized guidelines for the use of MLMT in China, posing challenges to its implementation in practical clinical research. To address this, Ocular Fundus Disease Society of Chinese Medical Association and Chinese Medical Doctor Association convened a multidisciplinary team comprising clinical experts in genetic retinal diseases, statisticians, and optical specialists to investigate the current applications and technical characteristics of MLMT, ultimately formulating consensus recommendations for its use as a clinical trial endpoint for IRD gene therapies. This consensus aims to provide a set of MLMT operating norms applicable to China's national conditions, guide clinical practice and research in ophthalmology and related disciplines, and promote the standardization process of IRD clinical trials in China, so as to better serve the IRD patient population and promote the development of related fields.
ObjectiveTo analyze the perdictive value of Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP) for malnutrition or postoperative complications in children with critical congenital heart disease (CHD).MethodsA total of 875 children with critical CHD who were hospitalized in West China Hospital, Sichuan University form August 2019 to February 2021, including 442 males and 433 females with a median age of 30 (12, 48) months, were assessed by STAMP in Health Information System. Clinical data of postoperative complications were collected.Results(1) Based on World Health Organization Z-score as gold standard, 24.5% had malnutrition risk, and 34.3% were diagnosed with malnutrition. According to STAMP, the children were with medium malnutrition risk of 37.9% and high malnutrition risk of 62.1%. There was a statistical difference of incidence rate of malnutrition and detection rate of STAMP malnutrition risk in gender, age, ICU stay or length of mechanical ventilation (P<0.05); (2) with the optimal cut-off point of 5.5 in STAMP for malnutrition, the sensitivity, specificity, positive predictive value, negative predictive value and area under the curve (AUC) were 68.3%, 84.3%, 48.1%, 88.3% and 0.82, respectively; (3) 12.0% of the children were with postoperative complications; (4) with the optimal cut-off point of 5.5 in STAMP for postoperative complications, the sensitivity, specificity, positive predictive value, negative predictive value and AUC were 83.8%, 73.1%, 18.8%, 99.1% and 0.85, respectively.ConclusionChildren with critical CHD have a higher incidence of malnutrition risk and postoperative complications. STAMP has a good perdictive value for malnutrition or postoperative complications, however, the sensitivity and specificity of STAMP are affected by the gold standard or the cut-off point.
【摘要】 目的 探索持续非卧床腹膜透析（CAPD）患者年龄与营养状况的关系，为营养教育提供指导。 方法 对2007年8月-2010年1月腹膜透析177例患者的临床资料进行回顾性分析，包括血红蛋白（HGB）、血清白蛋白（ALB）、年龄、体重指数（BMI）、腹膜平衡试验（PET）、尿素清除指数（Kt/V）、24 h尿蛋白、腹透液漏出蛋白、标准化每日蛋白质分解率（nPCR）等，分析年龄与营养状况的关系。 结果 老年组（≥60岁）和中青年组（lt;60岁）ALB分别为（31.54±5.91）、（33.24±4.75）g/L，老年组ALB较低（Plt;0.05）；老年组Kt/V值1.95±0.63和HGB水平（95.25±22.89） g/L均高于青年组（Plt;0.05）。两组患者营养不良与BMI、PET、每日蛋白漏出总量、nPCR无关。 结论 CAPD老年患者（≥60岁）更容易发生营养不良，且老年组低蛋白血症与透析充分性无明显关系。故应加强老年CAPD患者的饮食营养管理指导，设计合理的饮食。【Abstract】 Objective To investigate the relationship between age and nutrition status of the patients undergoing continuous ambulatory peritoneal dialysis (CAPD), and provide instructions for nutrition education. Methods We retrospectively analyzed the clinical data of 177 patients having undergone CAPD in the Department of Nephrology of West China Hospital between April 2007 and January 2010. Clinical parameters collected included hemoglobin (HGB), serum albumin (ALB), age, body mass index (BMI), results of the peritoneal equilibrium test (PET), urea clearance index (Kt/V), 24-hour urinary protein, protein loss in the peritoneal dialysate, normalized protein catabolic rate (nPCR). Relationship between age and nutrition status in these patients were analyzed. Results Plasma albumin was (31.54±5.91) g/L and (33.24±4.75) g/L respectively in patients of or older than 60 years old (the elderly group) and in patients younger than 60 years old (the younger group). Compared with the younger group, patients in the elderly group had lower ALB (Plt;0.05), but higher Kt/V 1.95±0.63 and hemoglobin level (95.25±22.89) g/L (Plt;0.05). In addition, malnutrition in both groups was not associated with BMI, PET results, daily protein loss in the peritoneal dialysate or nPCR. Conclusions Patients of or older than 60 years old undergoing CAPD are more likely to develop malnutrition, indicating that hypoalbuminemia is not associated with dialysis inadequacy. We advocate enhancing diet nutrition education in elderly CAPD patients and providing them with balanced diet regime.
Objective To observe and analyze the ocular clinical features and pathogenic genes of Alström syndrome (ALMS). MethodsA retrospective clinical study. From October 2020 to July 2022, 3 patients and 5 normal family members from 2 families affected with ALMS who visited in the Ophthalmology Department of Henan Children's Hospital were enrolled in the study. These 2 families were without blood relationship. The medical history and family history were inquired. Best corrected visual acuity (BCVA), fundus color photography, full-field electroretinogram (ERG), frequency domain optical coherence tomography (OCT) and systemic examination were performed. 3 ml peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. The second generation sequencing analysis was performed on these members. The suspected pathogenic mutation sites were verified by Sanger, and the pathogenicity of the gene mutation sites were determined by bioinformatics analysis. ResultsThree patients from two families all developed nystagmus and photophobia in infancy. In the family 1, the BCVA of both eyes of the proband was no light perception. The fundus examination revealed vascular attenuation and retinal pigment abnormality. OCT showed retinal thinning, loss of photoreceptor layer and atrophy of the retinal pigment epithelium layer. ERG examination showed extinguished. The BCVA of the proband’s younger brother was 0.04 in the right eye and 0.02 in the left eye. The fundus examination revealed vascular attenuation but the pigment distribution was roughly normal. OCT showed blurred photoreceptor layers in both eyes. ERG examination showed extinguished. Two patients developed sensorineural deafness, obesity, acanthosis nigricans, insulin resistance/diabetes, and abnormal liver function. In addition, the proband also had left heart enlargement, hyperlipidemia and abnormal kidney function. The results of genetic testing showed that the proband and his younger brother had compound heterozygous mutations in exon 8 (c.1894C＞T/p.Gln632*, M1) and exon 10 (c.9148_9149delCT/p.Leu 3050 Leufs*9, M2) of ALMS1, which were both known mutations. The father of the proband was a carrier of M1 and the mother of the proband was a carrier of M2. The proband of the family 2 had a normal fundus at 23 months old. The amplitude of ERG b wave under the stimulation of the dark adaptation 0.01 and a, b wave under the stimulation of dark adaptation 0.3 were all mild reduced. The amplitude of ERG a, b wave under the stimulation of the light adaptation 0.3 was severity decreased. At 4 years old, the BCVA was 0.01 in the right eye and 0.05 in the left eye. The fundus examination revealed vascular attenuation and bilateral blunted foveal reflex. In addition to severely diminished of a, b wave under the stimulation of dark adaptation 0.3, the rest showed extinguished. There were no systemic abnormalities. The results of genetic testing showed that the proband had compound heterozygous mutations in exon 11 (c.9627delT/p.Pro3210Glnfs*22, M3) and exon 5 (c.1089delT/p.Asp364Ilefs*13, M4) of ALMS1, which were both novel mutations. The father of the proband was a carrier of M3 and the mother of the proband was a carrier of M4. ConclusionsNystagmus and photophobia are often the first clinical manifestations of ALMS. In the early stage, the fundus can be basically normal. As the disease progresses, the fundus examination reveals vascular attenuation and retinal pigment abnormality, and the reflection of the fovea is unclear. OCT shows the photoreceptor cell layers are blurred or even lost. The final ERG is extinguished. M1, M2, and M3, M4 compound heterozygous mutations may be the pathogeny for family 1 and family 2, respectively.