[Clinical analysis of 10 patients with Fabry disease].

We aimed to analyze the clinical data of 10 patients (6 male and 4 female) with Fabry disease (FD). The mean age of the patients was (28.80±9.27) years. Seven patients had classical FD and three had delayed onset FD. Among the 10 patients, six had skin involvement and cutaneous angiokeratoma; five had hypohidrosis or anhidrosis; nine had intermittent neuralgia; and three had supraorbital ridge protrusion, forehead bulge, and lip thickening. Five patients had proteinuria, including one with chronic kidney disease stage 3 and one with chronic kidney disease stage 5. Cardiac involvement occurred in three patients, two had myocardial hypertrophy and one had valvular insufficiency. The activity of galactosidase decreased in seven patients (2.80-1.55 µmol·L-1·h-1). Plasma deacetyl-GL-3 was elevated in all 10 patients(3.12-120.00 ng/ml). Three patients underwent renal biopsy, wherein two cases of focal segmental glomerulosclerosis and one of mesangial proliferative glomerulonephritis was found. A large number of myeloid and zebra bodies were found in the podocytes in three patients, including a small number of myeloid and zebra bodies in the renal tubular epithelial cells in one patient with occasional zebra bodies in the renal interstitium. Nine patients had GLA gene mutations. One patient was c.102T>A, a de novo mutation. Four patients were treated with agalsidase α injection (0.2 mg/kg, intravenous infusion every 2 weeks), and their prognosis was good. FD has various clinical manifestations and multi-system involvement, which requires multidisciplinary cooperation. Detection of galactosidase activity, plasma globotriaosylsphingosine, and GLA gene mutation can help for accurate diagnosis.

[Application of target trail emulation in real world: a case study of effect of statins on mortality in diabetes patients].

Target trail emulation is an observational research method, which can use real-world data (such as observational data and historical data) to carry out research design according to the design principles of randomized controlled trials (RCT) when RCT cannot be carried out. The intervention group and the control group were classified by simulating random grouping. Finally a high-reliable conclusion similar to RCT can be obtained. This paper summarizes the basic concepts and application process of target trail emulation based on the effect of statins on the prognosis of myocardial infarction in diabetic patients to provide reference for the application of this method in real world.

[Efficacy and outcomes of shunt surgery for secondary hydrocephalus].

Records of secondary hydrocephalus patients undergoing shunt surgery in the Department of Neurosurgery of Peking Union Medical College Hospital from September 2012 to April 2022 and their clinical characteristics and outcomes were retrospectively reviewed and analyzed. Among 121 patients who received first time shunt placement, the most common causes of secondary hydrocephalus were brain hemorrhage (55, 45.5%) and trauma (35, 28.9%). Cognition decline (106, 87.6%), abnormal gait (50, 41.3%) and incontinence (40, 33.1%) were the most prevalent manifestations. Postoperative central nervous system infection (4, 3.3%), shunt obstruction (3, 2.5%) and subdural hematoma/effusion (4, 3.3%) were the most frequent neurological complications. Overall incidence of postoperative complications was 9% (11 cases) in the current cohort. And 50.5% (54/107) of the patients receiving shunting achieved a Glasgow outcome scale (GOS) score of at least 4. Shunt surgery is preferred for secondary hydrocephalus, especially for secondary normal pressure hydrocephalus. Moreover, it is recommended to complete cranioplasty in staged operation or one-stage operation for the patients with decompressive craniectomy.

[Clinical characteristics of 6 children with idiopathic interstitial pneumonia].

Objective: To analyze the clinical characteristics and prognosis of 6 children with idiopathic interstitial pneumonia (IIP). Methods: This retrospective study analyzed the clinical manifestations, examinations, treatment and prognosis of 6 children with IIP who were hospitalized in Children's Hospital of Nanjing Medical University from January 2015 to March 2020. Results: Of the 6 children, 2 were males and 4 were females, aged 4.8 to10.6 years. All children had a subacute onset, and presented with cough, shortness of breath and cyanosis. The lung high-resolution CT (HRCT) showed diffuse patchiness in bilateral lung fields in all the children and reticular pattern in 2 cases. Pulmonary function test found moderate to severe mixed defect in 5 children. Lung biopsy was performed in 4 children. All of the 6 children were treated with systemic glucocorticoids, of whom 2 cases had additional inhaled glucocorticoids. Four children were finally diagnosed as cryptogenic organizing pneumonia (COP), whose lung HRCT return to normal in 1-11 months. Two children were finally diagnosed as nonspecific interstitial pneumonia (NSIP), and had long-term residual fibrosis on lung HRCT. The 6 children were followed up for 1 year to 6 years and 5 months after discontinuation of systemic glucocorticoids, and all had no recurrence. Conclusions: The clinical characteristics of IIP in children are subacute onset presented with cough, shortness of breath, cyanosis and diffuse patchiness in bilateral lungs on HRCT. The common subtypes of IIP in children are COP and NSIP. Systemic glucocorticoid is effective for IIP in children and there is a good prognosis overall.

[Critical care management and thinking of perihematomal edema after intracerebral hemorrhage].

The prognosis of patients with spontaneous intracerebral hemorrhage (sICH) is poor. It is of great significance to improve the neurological function of these patients and make them return to society. However, to date, no treatment has been proved to significantly improve the neurological prognosis of sICH patients. The perihematomal edema (PHE) is a quantifiable marker of secondary brain injury (SBI) after ICH. It is associated with dysfunction of ion channels of vascular endothelial cells, inflammatory response induced-blood brain barrier dysfunction, and iron deposition caused by red blood cell degradation after ICH. Given that the space-occupying effect of PHE, the direct relation with SBI, long growth course and variable growth of PHE among individuals, interrupting the expansion of PHE has become a therapeutic target to improve neurological outcomes in ICH patients. Conducting an integrated and individualized strategy of critical care management and performing the corresponding pre-clinical and translational clinical research targeting the pathophysiological mechanism, nature course, and risk factors of PHE deserves further exploration.

[The necessity and importance of standardized management of acromegaly: from the perspective of development of expert consensuses and clinical guidelines].

Acromegaly is a rare disease, and multidisciplinary collaboration is essential for its diagnosis, treatment, and follow-up.In recent years, a series of novel findings have been echieved in clinical studies on acromegaly.Therefore, the China Pituitary Adenoma Specialist council has convened Chinese specialists in neurosurgery, endocrinology, radiology, and radiotherapy to release the Chinese Consensus for the Diagnosis and Treatment of Acromegaly (2021), which aims to promote the standardized and individualized management of acromegaly.Looking back to the past, the consensuses and guidelines have played vital roles in establishing the widely recognized biochemical remission criteria, promoting new drugs and novel therapeutic strategies which are of significance for standardized treatment, and emphasizing the need to focus on the systemic complications of acromegaly and the long-term quality of life. In this editorial, we briefly reviewed the expert consensuses and clinical guidelines on acromegaly at home and abroad, and discussed their important roles in promoting standardized disease management from three aspects including biochemical remission standards, medical treatment, and the diagnosis and treatment of systemic complications.

[Updated key points of Chinese Consensus for the Diagnosis and Treatment of Acromegaly (2021 edition)].

Led by the China Pituitary Adenoma Specialist Council, the Chinese Consensus for the Diagnosis and Treatment of Acromegaly (2021 Edition) is developed combined with the research progress of pituitary growth hormone (GH)-secreting adenoma both at home and abroad, evidence-based evidence of the diagnosis and treatment of acromegaly, and China's national conditions. Based on the guideline for acromegaly (2013 Edition), the new version of consensus emphasizes the importance of multidisciplinary team (MDT) and individual therapy. The criteria for control of acromegaly is discussed. Pathological criteria for the diagnosis of pituitary GH-secreting adenoma is updated. New developments in surgery, drug and radiotherapy are introduced. Meanwhile, the diagnosis and treatment of acromegaly patients concurrent with other particular scenarios, including pregnancy and refractory pituitary GH-secreting adenoma is suggested. This article aims to describe the updated key points of the new version of the consensus, and thus facilitate the clinical implementation of standardized diagnosis and treatment for acromegaly patients.

[Application of apparent diffusion coefficient histogram in moderate to severe neonatal hypoxic-ischemic encephalopathy].

Objective: To investigate the diagnostic value of apparent diffusion coefficient (ADC) histogram in quantifying moderate to severe neonatal hypoxic-ischemic encephalopathy (HIE). Methods: A total of 49 children with moderate to severe HIE admitted to the Children's Hospital Affiliated to Nanjing Medical University from July 2015 to September 2018 were retrospectively analyzed. Cranial magnetic resonance imaging (MRI) data of 31 full-term neonates without neurological symptoms and signs who visited the hospital during the same period were recruited as the control group. ImgJ software was used to delineate the whole brain area at the thalamus/basal ganglia level as the area of interest, and MRIcron software was used to obtain ADC histogram parameters. The differences of ADC histogram parameters between HIE group and control group were compared. The correlation between ADC histogram parameters and neonatal neurobehavioral neurological assessment (NBNA) in HIE group was analyzed. Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficiency of each parameter. Results: The mean value, minimum value, maximum value, mode-value, variance, heterogeneity and 10%-90% ADC values of HIE group were all greater than those of the control group(634±65,310±36,1 683±18,711±87,66 928±921,5 907±204,477±50,513±53,542±56,568±59,591±61,625±92,661±97,709±105,811±119),the differences were statistically significant(all P<0.05), while mode-count of HIE group was smaller than that of the control group(272±22 to 395±83), and the difference was statistically significant (t=2.996,P<0.05). All the above parameters with statistical differences were correlated with NBNA score, among which mode-count was negatively correlated with NBNA score(r=-0.369,P<0.05), and the rest were positively correlated(all P<0.05). The area under the ROC curve (AUC) of variance had the highest diagnostic efficiency (0.881), followed by 90% ADC value and ADC maximum value. Conclusion: ADC histogram is helpful for the diagnosis of HIE, objectively and quantitatively reflecting the diffusion information of brain, and assessing the severity of HIE.

Additively manufactured biomedical Ti-Nb-Ta-Zr lattices with tunable Young's modulus: Mechanical property, biocompatibility, and proteomics analysis.

Some ß-Ti alloys, such as Ti-Nb-Ta-Zr (TNTZ) alloys, exhibit a low Young's modulus and excellent biocompatibility. These alloys are promising new generation biomedical implant materials. Selective laser melting (SLM) can further enable customer-specific manufacturing of ß-Ti alloys to satisfy the ever-increasing need for enhanced biomedical products. In this study, we quantitatively determined the relationships between porosity, yield strength, and Young's modulus of SLM-prepared TNTZ lattices. The study constitutes a critical step toward understanding the behavior of the lattice and eventually enables tuning the Young's modulus to match that of human bones. Fatigue properties were also investigated on as-printed lattices in terms of the stress limit. The biocompatibility study included a routine evaluation of the relative cell growth rate and a proteomics analysis using a common mouse fibroblast cell line, L929. The results indicated that the as-printed TNTZ samples exhibited evidence of protein proliferation of the L929 cells, particularly P06733, and that those proteins are responsible for biological processes and molecular functions. They in turn may have promoted cell regeneration, cell motility, and protein binding, which at least partially explains the good biocompatibility of the as-printed TNTZ at the protein level. The study highlights the promising applications of additively manufactured TNTZ as a bone-replacing material from mechanical and biocompatibility perspectives.

[Performance of Knosp grade for cavernous sinus invasion of Cushing's disease].

Objective: To review the outcomes in patients with Cushing's disease (CD) after transsphenoidal surgery (TSS) and to assess the performance of Knosp grade for cavernous sinus invasion (CSI). Methods: Medical records were reviewed for patients with CD undergoing TSS from 1978 to 2017 at Peking Union Medical College Hospital. Based on whether CSI was observed during surgery, the sensitivity and specificity of Knosp grade for CSI were evaluated. Results: There were 1 061 records of CD reviewed, 83 (7.82%) of which were invasive tumors evaluated by surgery, and 44 (53.0%) of these remained in endocrinological remission at the last follow-up. The sensitivity of Knosp grade for CSI was 47.0%, and the specificity was 91.1%; besides, the positive predictive value was 31.0%, and the negative predictive value was 95.3%. Conclusions: Initial TSS for CD with invasive adenomas is of relatively low remission rate. Knosp grade 0-2 for non-invasive tumors is reliable, while it is doubtful whether or not Knosp grade 3-4 indicates invasive tumor.

Solar PV-Battery-Electric Grid-Based Energy System for Residential Applications: System Configuration and Viability.

Distributed renewable energy share increase in electricity generation is creating challenges for the whole power system, due to its intermittent and nonprogrammable nature. Energy storage has the potential to solve those issues although its technical, economic, and environmental impact is up for debate. The paper presents a study about a PV-battery energy storage system installed in a grid-connected residential apartment in the Green Energy Laboratory at Shanghai Jiao Tong University, China. Daily experimental results show how the presence of energy storage reduces the midday feed-in of excess PV power and the evening peak demand, providing benefits to the distribution network in terms of reduced voltage swings and peak load. Considering the Chinese context, an economic analysis is carried out to assess the profitability of residential PV-battery systems, using the net present value as the economic indicator of an 18-year investment in which the battery pack is replaced twice (6 life years). The analysis shows that such system is not economically viable due to a combination of low electricity prices, valuable PV incentives, and high technology costs. However, considering a future scenario of doubled electricity tariff, halved export tariff, and falling technology costs (-66% battery and -17% PV and inverter), PV-battery investment becomes profitable and shows more resilience to future scenarios than PV-only investment.

Research on mechanism of PCS in damaging vascular endothelial cells and promoting formation of atherosclerosis via TLR4/TREM-1.

OBJECTIVE: The study aimed to explore the effects of p-cresyl sulfate (PCS) of damaging vascular endothelial cells and promoting the formation of atherosclerosis in mice. MATERIALS AND METHODS: The apolipoprotein E (ApoE)-/- mice were fed normally and with a high-fat diet; the ApoE-/- mice fed with high-fat diet were divided into two groups and treated with blank control and PCS, respectively. The aortic arch in each group was taken and underwent the oil red O staining, and the serum PCS content in each group was detected. The basic components of plaque were observed, including foam cells, lipid deposition, and cholesterol crystal. Moreover, human umbilical vein endothelial cells were cultured and divided into control group, PCS treatment group (PCS), PCS treatment with TLR4 overexpression group (PCS+TLR4+), and PCS treatment with TLR4 knock-out group (PCS+TLR4-). The degree of endothelial cell damage was detected using a cluster of differentiation CD42b-/CD31+ endothelial microparticles (EMPs), and expressions of Toll-like receptor 4 (TLR4), triggering receptor expressed on myeloid cells-1 (TREM-1), phosphorylated-endothelial nitric oxide synthase (p-eNOS), and tumor necrosis factor-α (TNF-α) in cells were detected via Polymerase Chain Reaction (PCR) and Western blotting. RESULTS: The serum PCS concentration in high-fat ApoE-/- mice was increased, and the aortic arch sections of ApoE-/- mice treated with PCS displayed the evident atherosclerotic plaques. Experimental results of human umbilical vein endothelial cells showed that the activity of human umbilical vein endothelial cells treated with PCS declined, the expression levels of TLR4, TREM-1, and TNF-α were increased, while that of p-eNOS was decreased. After the TLR4 knockout, the above effects of PCS were reversed. CONCLUSIONS: PCS damages vascular endothelial cells through TRL4/TREM-1, thereby accelerating the formation of atherosclerosis.

[The surgical treatment in adults with idiopathic normal pressure hydrocephalus].

Objective: To investigate the effect of Ventriculoperitoneal shunt (VPS)in adult patients with idiopathic normal pressure hydrocephalus (iNPH). Methods: The patients with idiopathic normal pressure hydrocephalus were reviewed, who were admitted into the Peking union medical college hospital from October 2010 to October 2016.The patients treated via VPS were retrospectively analyzed by collecting the data including clinic features, iNPH score and imaging data. Results: 33 patients were included in the group.3 months after operation, the iNPH scores were significantly decreased (3.0±1.0 vs 6.0±2.5, P<0.01), and there were no difference among 3 month, 6 month and 12 month post operation.The Evans index and the width of the three ventricles were also significantly decreased.1 patient suffered from subdural hematoma and no other complications such as infection, obstruction or death occurred. Conclusions: VPS is an effective treatment approach of iNPH and multidisciplinary team is the key in diagnosis.

[The localization diagnosis of patients with adrenocorticotropic hormone-dependent Cushing's syndrome in adolescence].

Objective: To elucidate the clinical characteristics and localization diagnosis of patients with adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS) in adolescence. Methods: The clinical data, laboratory examination and localization diagnosis from 35 patients aged less than 18 years old with adolescent CS who were treated at Peking Union Medical College Hospital between January 1990 and March 2012 were analyzed. Results: There were 29 cases of Cushing's disease (CD) and 6 cases of ectopic ACTH syndrome (EAS). Compared to patients with EAS, those with CD were older at diagnosis[(15.2±2.7) vs (12.8±4.4) years], and had longer disease course[(1.9±1.5) vs (0.7±0.3) years]and higher serum potassium[(3.8±0.6) vs (2.5±0.7) mmol/L], however the plasma ACTH level[(15.4±14.9) vs (42.5±22.7) pmol/L]was lower (all P<0.05). If the cut-off of the ratio of 24-hour urine free cortisol (24 h UFC) after low-dose dexamethasone suppression test (LDDST) to before LDDST was 0.65, the sensibility to diagnose CD was 70.8%, and the specificity was 100%. If the cut-off of the 24 h UFC ratio after high-dose dexamethasone suppression test (HDDST) to before HDDST was 0.54, the sensibility to diagnose CD was 91.7%, and the specificity was 100%. If the cut-off of the plasma ACTH ratio of inferior petrosal vein[bilateral inferior petrosal sinus sampling (BIPSS)]to peripheral vein was 2, only 6 CD patients (6/8) met it. Conclusion: The study suggested that HDDST was more meaningful in the localization diagnosis of patients with ACTH-dependent CS in adolescence.