Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

Objective:To analyze the changes of diagnosis and treatment before and after renal biopsy in adult patients with acute kidney disease (AKD), and to explore the value of renal biopsy in the diagnosis and treatment of AKD.Methods:It was a single-center retrospective observational study. The adult patients with AKD who underwent renal biopsy in the Department of Nephrology of the First Affiliated Hospital of Nanjing Medical University from January 1, 2017 to December 31, 2021 were enrolled. Demographic data, general clinical data, laboratory tests, and diagnosis and treatment data before and after renal biopsy were collected to analyze the concordance rate between clinical and pathological diagnoses, changes in treatment after renal biopsy, and bleeding complication.Results:A total of 575 patients diagnosed with AKD by renal biopsy were included in this study, with age of 51 (36, 63) years old and 359 males (62.4%). Among them, there were 293 patients (51.0%) of acute kidney injury, 348 patients (60.5%) of hypertension and 124 patients (21.6%) of diabetes. The peak serum creatinine was 272 (190, 477) μmol/L. The hemoglobin was 106 (86, 126) g/L. The 24-hour urine protein was 2.15 (0.79, 4.82) g. There were 347 patients (60.3%) of acute glomerular diseases, 136 patients (23.7%) of acute interstitial nephritis, 47 patients (8.2%) of thrombotic microangiopathy, and 45 patients (7.8%) of acute tubular necrosis. The most common types of acute glomerular diseases were IgA nephropathy and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis, accounting for 22.3% (128/575) and 12.2% (70/575), respectively. The clinical diagnoses before renal biopsy were consistent with the renal histopathological diagnoses in 454 patients, with an accuracy rate of 79.0%. Following the renal biopsy, the treatment plan involving glucocorticoids or immunosuppressants was adjusted in 394 patients (68.5%). Significant post-biopsy bleeding occurred in 15 patients (2.6%), with 12 patients requiring blood transfusion and 1 patient requiring surgical intervention.Conclusions:Twenty-one clinical diagnoses do not match the pathological diagnoses in adult AKD patients, 68.5% of patients have changes in their treatment plans, and 2.6% of patients have significant hemorrhagic complications after renal biopsy. Clinicians need to carefully consider the benefits and risks and make individualized decisions about renal biopsy.

Objective:To observe any effect of family rehabilitation interventions based on digital health management on elderly type 2 diabetes mellitus (T2DM) patients with sarcopenia.Methods:One hundred elderly T2DM patients with sarcopenia who had been discharged from hospital after treatment were divided into an observation group and a control group, each of 50. Both groups continued the diet control and training begun during their hospitalization, but the observation group was additionally provided with family rehabilitation based on digital health management. Before and after 3 months, the glucose and lipid metabolism and sarcopenia of both groups were evaluated with related symptom indexes, and their levels of diabetes self-management were compared.Results:Significant improvement was observed in both groups, but the average glucose and lipid metabolism indexes and sarcopenia-related symptom indexes of the observation group were significantly better than the control group′s averages. Their diabetes self-management was also significantly superior.Conclusion:Family rehabilitation based on digital health management can significantly improve glucose and lipid metabolism and muscle mass in elderly T2DM patients with sarcopenia. Such intervention is worthy of promotion and application in clinical practice.

Humans ; Dexmedetomidine/therapeutic use* ; Hypnotics and Sedatives ; Cognitive Dysfunction/drug therapy*

Objective:To investigate the factors related to gastroesophageal reflux disease (GERD) in children.Methods:Clinical data of 370 children who underwent 24h multi-channel impedance-pH monitoring (24h MII-pH) in Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2015 to December 2020 were enrolled in the study. The children were divided into GERD group ( n=202)and non-GERD group ( n=168) according to results of 24h MII-pH. The relationship of sex, age, body mass index (BMI), disease course, peripheral blood eosinophils count, IgE, Helicobacter pylori (Hp) infection, hiatus hernia of patients with GERD was analyzed by univariate and multivariate logistic regression analysis. Results:In GERD group 124 were males and 78 were females with a mean age of (6.4±4.1) years (2 months to 16.75 years), and in non-GERD group 82 were males and 86 were females with a mean age of (8.0±3.5) years (10 months to 15.17 years). Univariate logistic regression analysis showed that sex( OR=0.600,95% CI:0.396-0.908, P=0.016), age ( OR=0.537,95% CI:0.412-0.699, P<0.001)and hiatus hernia( OR=7.433,95% CI:2.567-21.520, P<0.001)were significantly associated with GERD of the children. Multivariate analysis showed that hiatus hernia ( OR=4.023,95% CI:1.298-12.470, P=0.016) was the independent risk factor, while male gender ( OR=0.567,95% CI:0.367-0.874, P=0.010) and younger age ( OR=0.613, 95%CI:0.459-0.819, P=0.001 ) were related factors of gastroesophageal reflux disease in children. Conclusion:Sex, age, and hiatal hernia are factors related to GERD in children.

A middle-aged man was presented with poor appetite, polyuria, polydrpsia, and headache. A sellar mass was found, along with total pituitary hypofunction and visual field defect. A biopsy of the lesion via the trans-sphenoidal approach showed inflammatory changes and granuloma formation. However, repeated cerebrospinal fluid and pathogenic examination of the pathological tissue showed no positive indications. The initial diagnosis considered autoimmune hypophysitis, and treatment of glucocorticoids combined with immunosuppressants was administered, which led to a temporary shrinkage of the lesion, but it gradually enlarged subsequently. After multidisciplinary discussion, a high possibility of pituitary tuberculosis infection was decided upon. After standardized anti-tuberculosis treatment was initiated, the lesion reduced noticeably and the patient′s condition improved. Pituitary tuberculosis infection is incredibly rare and extremely easy to misdiagnose. This case was diagnosed and treated in a timely and effective manner through a multidisciplinary approach, highlighting the importance of such an approach in dealing with rare diseases.

Objective:The study is to examine association of sleep duration and cognitive impairment in the older adults aged 65 years and older in China.Methods:We analyzed data from 2017-2018 wave of Chinese Longitudinal Healthy Longevity Survey (CLHLS). A total of 14 966 participants were included in the analysis. Data with respect to socioeconomic status, community involvement, behavior pattern, diet, life style, family structure, disease condition, mental health and cognitive function were collected. Cognitive function was measured with Mini-mental State Examination (MMSE). We conducted generalized linear mixed models to examine associations of sleep duration with cognitive impairment, and subgroup analyses of sex and age were conducted.Results:Among 14 966 participants, the percentage of participants aged 65 to 79 years, 80 to 89 years, 90 to 99 years and 100 years and older was 5 148 (4.40%), 3 777 (25.24%), 3 322 (22.20%) and 2 719 (18.16%), respectively. A total of 2 704 participants reported sleep duration of 5 h and less, and 3 883 reported 9 h and more, accounting for 18.94% and 27.19%, respectively. In total, 3 748 were defined with cognitive impairment, accounting for 25.04%. The results of generalized linear mixed models showed that both short (≤5 h) and long (≥ 9 h) sleep duration were associated with cognitive impairment compared with sleep duration of 7 h, with OR(95% CI) of 1.35(1.09-1.68) and 1.70(1.39-2.07), respectively. The association of sleep duration with cognitive impairment was more obvious in males and individuals aged 65 to 79 years old. Conclusion:Short or long sleep duration was responsible for increased risk of cognitive impairment in older Chinese.

Objective:The study is to examine association of sleep duration and cognitive impairment in the older adults aged 65 years and older in China.Methods:We analyzed data from 2017-2018 wave of Chinese Longitudinal Healthy Longevity Survey (CLHLS). A total of 14 966 participants were included in the analysis. Data with respect to socioeconomic status, community involvement, behavior pattern, diet, life style, family structure, disease condition, mental health and cognitive function were collected. Cognitive function was measured with Mini-mental State Examination (MMSE). We conducted generalized linear mixed models to examine associations of sleep duration with cognitive impairment, and subgroup analyses of sex and age were conducted.Results:Among 14 966 participants, the percentage of participants aged 65 to 79 years, 80 to 89 years, 90 to 99 years and 100 years and older was 5 148 (4.40%), 3 777 (25.24%), 3 322 (22.20%) and 2 719 (18.16%), respectively. A total of 2 704 participants reported sleep duration of 5 h and less, and 3 883 reported 9 h and more, accounting for 18.94% and 27.19%, respectively. In total, 3 748 were defined with cognitive impairment, accounting for 25.04%. The results of generalized linear mixed models showed that both short (≤5 h) and long (≥ 9 h) sleep duration were associated with cognitive impairment compared with sleep duration of 7 h, with OR(95% CI) of 1.35(1.09-1.68) and 1.70(1.39-2.07), respectively. The association of sleep duration with cognitive impairment was more obvious in males and individuals aged 65 to 79 years old. Conclusion:Short or long sleep duration was responsible for increased risk of cognitive impairment in older Chinese.

Objective:To investigate the late effects induced by external ionizing radiation through long-term follow-up of the victims exposed to 60Co radiation source at " 4.26" accident in Henan in 1999, and to provide valuable experience in the radiological medicine. Methods:Medical observations of the clinical symptoms, signs, eye lens examination and previous medical history of the five exposed victims were performed and recorded. The changes of the laboratory routine examinations, immune function, thyroid function, reproductive hormone levels, tumor markers, radiation genetic indicators as well as ultrasound examination of thyroid, cardiac, reproductive system, electrocardiogram, chest CT were systematically reviewed.Results:The typical radiation-induced cataract was found in " Mei" 2-3 years after 60Co accidental irradiation. 13 years after irradiation, the cataract surgery and intraocular lens implantation in left eye were performed followed by the same operation in right eye in November 2019. Different degrees phacoscotasmus under the posterior capsule or equatorial part of the eyes were also found in the rest of victims. ECG result of " Mei" indicated myocardial ischemia 7 years after accident. " Tian" confirmed diagnosis coronary heart disease 12 years after irradiation, and the surgery about coronary angiography heart stent implantation was taken at 20 years after irradiation. Five victims showed increased serum total cholesterol and/or triglycerides, and 4 victims showed bilateral or unilateral common carotid atherosclerotic plaque formation. Higher levels of thyroid stimulating hormone (TSH) were observed in " Mei" at 11 years after the irradiation. The thyroglobulin antibody (TGA)and thyroid microsomal antibody (TMA) were obviously increased in " Yi" , accompanied by thyroid uneven found by ultrasound. The thyroid nodules in " Mei" and " Min" were observed at 15 years after irradiation. The diagnosis of diffuse large B cell lymphoma(DLBL) in " Tian" was confirmed at 13 years after irradiation. Slightly higher of Neuron-specific enolase(NSE) were found in " Tian" , " Min" and " Yi" . A small nodule was detected from chest CT of " Tian" . Most of the chromosome aberrations observed in peripheral blood lymphocytes from the victims were stable chromosomal aberration such as translocation (t) with a few dicentric chromosome (dic) and acentric fragment (ace) in " Wang" and " Tian" . Conclusions:Ionizing radiation can cause variable degrees of deterministic effects in lens, thyroid gland and cardiovascular circulatory system and stochastic effects such as neoplasm. The genetic damages will last long in the patients.

Objective:To investigate the relationship between mild cognitive impairment (MCI) and time in target range (TIR) and time below target glucose range (TBR) in elderly patients with type 2 diabetes.Methods:Ninety-five elderly patients with type 2 diabetes who were admitted to the Henan Provincial People′s Hospital from November 2017 to November 2018 were selected. Patients were assessed for cognitive function using the Montreal cognitive assessment (MoCA), and were classified into mild cognitive impairment group (MCI group) and non-mild cognitive impairment group (non-MCI group) according to the scores; all enrolled patients were scanned with a glucose monitoring system to record TIR and TBR within the first 24 hours of admission.Results:The MoCA score of the patients in the MCI group was (21.3±3.7)point, which was significantly lower than that in the non-MCI group (28.2±1.2)point, P<0.01); the TIR of the patients in the MCI group was significantly lower than that in non-MCI group [(50.6±24.5)% vs (65.8±28.7)%, P<0.01], the TBR of patients in the MCI group was significantly higher than that in the non-MCI group [(6.6±3.2)% vs (1.2±1.9)%, P<0.01]. Correlation analysis showed that MoCA score was negatively correlated with TBR ( r=-0.892, P<0.01) and positively correlated with TIR ( r=0.816, P=0.001). Multivariate linear regression analysis showed that when adjusted for diabetic duration and HbA 1C, TIR and TBR were independent risk factors for MoCA scores. Conclusion:The cognitive level of elderly patients with type 2 diabetes is closely related to TIR and TBR. At the same time, we must pay attention to TBR while increasing TIR.