中华糖尿病杂志
2018年 · 第131卷第24期
中华糖尿病杂志
Alzheimer’s disease (AD), characterized by progressive memory impairment and dementia leading to severe deterioration of daily living, has been a public health crisis that currently lacks effective treatments. The reported prevalence of AD was 3.21% in people aged ≥65 years.[
Ongoing efforts have been made to identify new neuroimaging markers to track amyotrophic lateral sclerosis (ALS) progression. This study aimed to explore the monitoring value of multimodal magnetic resonance imaging (MRI) in the disease progression of ALS.
From September 2015 to March 2017, ten patients diagnosed with ALS in Peking Union Medical College Hospital completed head MRI scans at baseline and during follow-up. Multimodal MRI analyses, including gray matter (GM) volume measured by voxel-based morphometry; cerebral blood flow (CBF) evaluated by arterial spin labeling; functional connectivity, including low-frequency fluctuation (fALFF) and regional homogeneity (ReHo), measured by resting-state functional MRI; and integrity of white-matter (WM) fiber tracts evaluated by diffusion tensor imaging, were performed in these patients. Comparisons of imaging metrics were made between baseline and follow-up using paired t-test.
In the longitudinal comparisons, the brain structure (GM volume of the right precentral gyri, left postcentral gyri, and right thalami) and perfusion (CBF of the bilateral temporal poles, left precentral gyri, postcentral gyri, and right middle temporal gyri) in both motor and extramotor areas at follow-up were impaired to different extents when compared with those at baseline (all P < 0.05, false discovery rate adjusted). Functional connectivity was increased in the motor areas (fALFF of the right precentral gyri and superior frontal gyri, and ReHo of right precentral gyri) and decreased in the extramotor areas (fALFF of the bilateral middle frontal gyri and ReHo of the right precuneus and cingulate gyri) (all P < 0.001, unadjusted). No significant changes were detected in terms of brain WM measures.
Multimodal MRI could be used to monitor short-term brain changes in ALS patients.
Brain death is the irreversible cessation of the function of the brain including the brainstem. In 2013, the Brain Injury Evaluation Quality Control Centre (BQCC) of the National Health and Family Planning Commission issued criteria and practical guidelines for the determination of brain death. This study aimed to evaluate whether the institutions have adopted these guidelines and to make suggestions for the improvement of the current criteria and practical guidelines for brain death determination in China.
Consecutive brain death cases from 44 hospitals were evaluated for summary statistics for the following data: the performance of BQCC criteria and practical guidelines, clinical examination, apnea testing, ancillary testing, and the number of examinations as well as the waiting periods between examinations and details of who determined brain death. Data analysis was conducted from January 2013 to December 2017.
A total of 550 cases were obtained. All patients were determined to have deep coma and met the prerequisites for clinical testing. The performance rates of four brainstem reflex examinations (except cough reflex) ranged from 97.5% to 98.0%, and the completion rate as well as the coincidence rate were both 100.0%. The 238 cases (50.7%) completed apnea testing, and 231 cases (42.0%) had to stop apnea testing during the examination because of instability. The performance rates of the three ancillary tests, including electroencephalogram, short-latency somatosensory evoked potential, and transcranial Doppler, were 89.5%, 67.5%, and 79.5%, respectively; furthermore, the coincidence rates were 98.6%, 96.5%, and 99.5%, respectively. The combination of two ancillary tests was more accurate than one single ancillary test. A total of 401 (72.9%) cases successfully underwent two separate examinations to determine brain death with at least a 12-h waiting period. All brain death cases were determined by at least two qualified physicians.
This study might provide suggestions for brain death determination in China.
Few studies have been published on new-onset geriatric epilepsy especially in older Chinese people. This study was to have a comprehensive understanding of new-onset geriatric epilepsy and find a more reasonable diagnosis and management of epilepsy in older people.
One hundred and three patients with onset age 60 years and older were admitted between January 2008 and December 2016. Electronic medical records were reviewed to collect information.
There were 103 older patients with new-onset epilepsy. The mean age of the patients was 68.5 ± 6.4 years (range: 60–89 years), and there were 67 (65%) men and 36 (35%) women. The mean onset age was 67.9 ± 6.2 years (range: 60–89 years). The most common identifiable etiology of symptomatic seizures was autoimmune epilepsy in 43 (41.7%) patients. The second most common etiology was stroke in 15 (14.6%) patients. Seven (6.8%) older patients with acute seizures present with status epilepticus and 26 (25.2%) patients experienced clustered seizures (more than three events in 24 h) at seizure onset. Focal seizures (96.1%) were more common than generalized seizures (3.9%). Fifty-three (51.5%) patients had an abnormal brain magnetic resonance imaging (MRI) scan. Among them, video-electroencephalogram findings in 31 (30.1%) patients correlated with MRI abnormalities. Levetiracetam was the most used drugs before admission, in hospital, and during follow-up.
Autoimmune encephalitis is becoming an increasing risk factor of subsequent epilepsy in older people. Older patients with new epilepsy are more likely to respond to antiepileptic drugs, and drug-resistant epilepsy is uncommon.
Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.
A total of 1494 children suspected with SMA were enrolled in this study. Traditional strategy, including multiplexed ligation-dependent probe amplification (MLPA) and TA cloning, was used in 1364 suspected SMA children from 2003 to 2014, and the 130 suspected SMA children were tested by a new strategy from 2015 to 2016, who were also verified by MLPA combined with TA cloning. The SMN1 and SMN2 were simultaneously amplified by polymerase chain reaction using the same primers. Mutation Surveyor software was used to detect and quantify the SMN1 variants by calculating allelic proportions in Sanger sequencing. Finally, turnaround time and cost of these two strategies were compared.
Among 1364 suspected SMAchildren, 576 children had SMN1 homozygous deletion and 27 children had SMN1 compound heterozygous mutation. Among the 130 cases, 59 had SMN1 homozygous deletion and 8 had heterozygous deletion: the SMN1-specific peak proportion on exon 7 was 34.6 ± 1.0% and 25.5 ± 0.5%, representing SMN1:SMN2 to be 1:2 and 1:3, respectively. Moreover, five variations, including p.Ser8Lysfs *23 (in two cases), p.Leu228*, p.Pro218Hisfs *26, p.Ser143Phefs*5, and p.Tyr276His, were detected in 6/8 cases with heterozygous deletion, the mutant allele proportion was 31.9%, 23.9%, 37.6%, 32.8%, 24.5%, and 23.6%, which was similar to that of the SMN1-specific site on exon 7, suggesting that those subtle mutations were located in SMN1. All these results were consistent with MLPA and TA cloning. The turnaround times of two strategies were 7.5 h and 266.5 h, respectively. Cost of a new strategy was only 28.5% of the traditional strategy.
Sanger sequencing combined with Mutation Surveyor analysis has potential application in SMA diagnosis.
The incidence of cryptococcal meningitis among immunocompetent patients increases, especially in China and imaging plays an important role. The current study was to find the correlation between magnetic resonance imaging (MRI) manifestation and clinical severity in nonhuman immunodeficiency virus patients with cryptococcal infection of central nervous system (CNS).
A total of 65 patients with CNS cryptococcal infection from August 2014 to October 2016 were retrospectively included in this study. All the patients had MRI data and clinical data. The patients were divided into two groups according to whether the patients were confirmed with identifiable underlying disease. Comparison and correlation of MRI and clinical data in both groups were investigated using independent sample t-test, Chi-square test, Mann-Whitney test and Spearman rank correlation analysis.
In all 65 patients, 41 cases (41/65, 63.1%; Group 1) had normal immunity and 24 cases (24/65, 36.9%; Group 2) had at least one identifiable underlying disease. Fever, higher percentage of neutrophil (NEUT) in white blood cell (WBC), and increased cell number of cerebral spinal fluid (CSF) were much common in patients with underlying disease (Group 1 vs. Group 2: Fever: 21/41 vs. 21/24, χ2 = 8.715, P = 0.003; NEUT in WBC: 73.15% vs. 79.60%, Z = −2.370, P= 0.018; cell number of CSF: 19 vs. 200, Z = −4.298, P < 0.001; respectively). Compared to the patients with normal immunity, the lesions are more common in the basal ganglia among patients with identifiable underlying disease (Group 1 vs. Group 2: 20/41 vs. 20/24, χ2 = 7.636, P = 0.006). The number of the involved brain areas in patients with identifiable underlying disease were well correlated with the number of cells and pressure of CSF (r = −0.472, P = 0.031; r = 0.779, P = 0.039; respectively).
With the increased number of the involved brain areas in patients with identifiable underlying disease, the body has lower immunity against the organism which might result in higher intracranial pressure and more severe clinical status.
Decision-making concerning the treatment of choroid plexus tumor (CPT) in pediatric patients remains a topic of considerable debate. The aim of this work was to describe clinical features and prognostic risk factors of CPT in the pediatric population and to provide theoretical opinions regarding clinical decisions for CPT.
The data of 96 patients with CPT and younger than 14 years were retrospectively analyzed. Clinical characteristics such as pathological type of CPTs, rate and severity of hydrocephalus, treatment and outcome, and recurrence were investigated. For categorical variables, the Pearson’s Chi-square test was performed. The Mann–Whitney U-test was used for comparisons between nonnormally distributed parameters. Log-rank test was used for progression-free survival (PFS).
The study included 70 choroid plexus papilloma (CPP) cases, 17 atypical choroid plexus papilloma (aCPP) cases, and 9 choroid plexus carcinoma (CPC) cases. Compared with patients with CPP or aCPP, patients with CPC had a shorter disease course (median: CPP, 4 months; aCPP, 2 months; CPC, 1 month; H: 23.5, P < 0.001), higher rate of acute hydrocephalus (CPP, 27.1%; aCPP, 52.9%; CPC, 77.8%; χ2 = 10.9, P < 0.05), and lower incidence of cure rate (CPP, 85.7%; aCPP, 70.5%; CPC, 33.3%; χ2 = 13.5, P < 0.05). The severity of hydrocephalus with tumor in the lateral or third ventricle was significantly higher than that with tumors in the fourth ventricle (severe hydrocephalus: lateral ventricle, 51.7%; third ventricle, 47.0%; fourth ventricle, 11.1%; χ2 = 26.0, P < 0.001). Patients with gross total surgical resection had no better PFS than those with partial resection because of the use of adjuvant therapy in the latter (χ2 = 4.0, P > 0.05). Patients with CPC experienced shorter time for recurrence than those with CPP or aCPP (χ2 = 40.1, P < 0.0001).
Our results indicated that CPP in the fourth ventricle could trigger serious clinical symptoms at an early stage, requiring early intervention. Adjuvant treatment might be necessary for patients with partially resected CPP, aCPP, and CPC to achieve a favorable outcome.
Plasminogen activator inhibitor 1 (PAI-1) was previously established to impact several phenotypes in many kinds of cancer, including pancreatic cancer. However, its prognostic significance in pancreatic ductal adenocarcinoma (PDAC) needs support of further evidence. This study was designed to address the issue.
PAI-1 expression was detected by tissue microarray-based immunohistochemical staining in formalin-fixed paraffin-embedded specimens from 93 PDAC patients with surgical resection from September 2004 to December 2008. Its relationships with clinicopathologic variables and tumor-specific survival (TSS) were further evaluated using Chi-square, Kaplan-Meier, log-rank, as well as Cox regression analyses.
Expression of PAI-1 was much higher in tumor than that in nontumor tissues, based on comparison of all samples and 74 matched ones (95 [47.5, 180] vs. 80 [45, 95], Z = −2.439, P = 0.015 and 100 [46.9, 182.5] vs. 80 [45, 95], Z = −2.594, P = 0.009, respectively). In addition, tumoral PAI-1 expression was positively associated with N stage (22/35 for N1 vs. 21/51 for N0, χ2 = 3.903, P = 0.048). Univariate analyses showed that TSS of patients with high PAI-1 tumors was significantly poorer than that of those with low PAI-1 tumors (log rank value = 19.00, P < 0.0001). In multivariate Cox regression test, PAI-1 expression was identified as an independent predictor for long-term prognosis of resectable PDAC (hazard ratio = 2.559, 95% confidence interval = 1.499–4.367, P = 0.001).
These results suggest that expression of PAI-1 is upregulated in PDAC and might serve as a poor prognostic indicator.
Diabetes mellitus (DM) has become the leading cause of chronic kidney disease (CKD). Nondiabetic renal diseases (NDRDs) have different clinicopathological features and prognosis from those of diabetic nephropathy. Our study sought to analyze the clinical and pathological features of NDRDs, in different age groups through a cross-sectional study.
All patients with type 2 DM at our center who underwent renal biopsy between March 1997 and March 2017 were screened and divided into three groups by age: Group 1 (youth group), 18–44 years old; Group 2 (middle-aged group), 45–59 years old; and Group 3 (elderly group), ≥60 years old. We analyzed the clinicopathological data and risk factors by univariate and multivariate logistic regression for NDRD of the patients to identify the features of NDRD in different age groups.
We included 982 patients in the final analysis. Patients with NDRD accounted for 64.4% of all patients. IgA nephropathy (IgAN) was the most common pathological pattern in young patients with NDRD, accounting for 26.3%. In the middle-aged group, the two most common pathological patterns were IgAN and membranous nephropathy. Membranous nephropathy was the most common pathological pattern in elderly patients with NDRD, accounting for 29.3%. Consistent with pathological features, glomerular hematuria is a risk factor for NDRD in Group 1 (odds ratio [OR], 26.514; 95% confidence interval [CI], 2.503–280.910; P = 0.006). On the other hand, rapidly increasing proteinuria or nephrotic syndrome is a risk factor for NDRD in Group 2 (OR, 5.921; 95% CI, 2.061–17.013; P = 0.001) and Group 3 (OR, 90.409; 95% CI, 6.198–1318.826; P = 0.001).
This single-center study showed that the proportion and composition of NDRD differ among different age groups. Consistent with pathological features, some clinical indices such as hematuria and proteinuria showed different features among different age groups.
Nowadays, the anterior cruciate ligament (ACL) injury has been one of the most common diseases of the knee joint. The relationships between the ACL injury and the anatomical structures are still controversial. This study aimed to identify the anatomical risk factors of ACL injury by magnetic resonance imaging (MRI) of the knee.
This was a retrospective study of 125 patients undergoing primary ACL reconstruction between July 2013 and May 2017. Another 125 patients without any organic knee joint injury were served as controls. The shape of intercondylar notch, the intercondylar notch width index, the intercondylar notch height index, the α angle, the β angle, and the medial and lateral tibial plateau slope were measured with MRI and compared. The data were compared by binary logistic regression to find the risk factors.
The two groups differed in the proportion of male patients (70.4% vs. 52.0%, χ2 = 8.911, P = 0.003), but gender was excluded as a risk factor for ACL injury with regression analysis (odds ratio = 1.476, 95% confidence interval [CI]: 0.689–3.160, P = 0.317). The injured group was found to have a smaller notch width index (95% CI = 7.960E-23–2.154E-9, P < 0.001), a larger β angle (95% CI = 1.311–1.785, P < 0.001), and a larger lateral tibial plateau slope (95% CI = 1.201–1.683, P < 0.001). The cutoff values of notch width index, β angle, and the lateral tibial plateau slope were 0.252, 38.5°, and 7.5°, respectively.
In this study, a narrow intercondylar notch (intercondylar notch width index <0.252), a larger lateral tibial slope (>7.5°), and larger β angle (>38.5°) might be the factors associated with ACL injury.
ChiCTR-RRC-17014116; http://www.chictr.org.cn/showproj.aspx?proj=24119.
Macrophage polarization is involved in the development of many diseases such as obesity, diabetes, and cancer. This study aimed to understand the trends and hotspots of macrophage polarization research.
We searched through the Web of Science Core Collection database to obtain original articles in this research domain. CiteSpace, HistCite, and VOSviewer software were used to facilitate the analysis and visualization of scientific productivity and emerging trends.
The survey included 3064 articles, and the annual number of publications exhibited an exponential increase. These articles have received a total of 74,801 citations, and the number of annual citations grew from 68 to 18,074 in a decade. Research on macrophage polarization was performed in 76 countries, and the USA ranked first in terms of research output by contributing 1129 (36.8%) articles. The USA also had the highest H-index, total citations, and highly cited article number. PLOS One, Journal of Immunology, and Scientific Reports were the three journals that published the most articles. Interdisciplinary research areas involving macrophage polarization, such as biomaterials, cancer, and diabetes, were identified by journal citation analysis. The top 20 most productive institutions were located mainly in the USA, France, and China, and top authors originated mainly from the USA and Italy. Tumor biology, obesity, and infection were research hotspots and may be promising in the next few years.
This study provides a comprehensive analysis that delineates the scientific productivity, collaboration, and research hotspots of macrophage polarization research.
Sleep disturbance is one of the most common nonmotor symptoms in Parkinson’s disease (PD). Sleep disturbance affects 40–98% of PD patients in the world.[
To the Editor: Filamin C (FLNC) myopathy is an autosomal dominant inherited myopathy caused by mutations inFLNC.FLNCbelongs to the filamin superfamily and cross-links actin filaments to form a network, anchoring membrane protein to the cytoskeleton. Human protein filamins comprise three isoforms encoded by the human genome: filamins A, B, and C. Among these,FLNCis a Z-disk protein encoded by theFLNCgene and is mainly expressed in the skeletal and cardiac muscles.FLNCgene is on chromosome 7q32-q35, containing genomic DNA of about 29.5 kb length and 49 encoding exons.FLNCis an isoform of serine protease expressed primarily in the striated muscle, containing 2725 amino acids, at a molecular weight of 291,000.FLNCprotein contains two domains. The amino terminus consists of two calponin homology domains that together constitute the actin-binding domain (ABD), followed by 24 filamin-type immunoglobulin (Ig-FLMN) repeated domains (rod-overlapping domains), the most carboxy-terminal of which is responsible for dimerization, assembly, and anchor filaments. Each rod-overlapping domain consists of seven β-chains, where 3–4 β-chains constitute a β-sheet, and the protein-binding interface is formed between the two β-sheets.
To the Editor: With the advent of antibiotics application, intracranial complications of paranasal sinusitis, including meningitis, intracranial abscess, subdural empyema (SDE), epidural abscess, cavernous sinus thrombosis, and thrombosis of other dural sinuses, have become uncommon.[
To the Editor: Neurodegeneration with brain iron accumulation (NBIA) comprises a group of disorders that manifest as early- or late-onset parkinsonism, dystonia, spasticity, and cognitive impairment.[
To the Editor: Eliminating a nidus was deemed to be the key to curing brain arteriovenous malformations (bAVMs). When conducting interventional embolization, it was suggested to superselect the microcatheter close to the nidus before injecting embolic agents. The traditional embolization was conducted via arterial approaches, which required the accessibility of arterial feeders. Difficulties and risks increased in the cases with lesions with narrow calibers, tortuous courses, or "en passage" arterial supplies. Transvenous approaches were proved to be safe and effective accesses in bAVM embolization without the limitations of arteries.[
To the Editor: Primary familial brain calcification (PFBC) is a rare genetically degenerative disease that is generally characterized by symmetrical, bilateral calcinosis in the basal ganglia, thalamus, dentate nuclei, and other brain regions and mainly manifests with neurological and psychiatric symptoms. A growing number of studies have reported associations between this condition and pathogenic mutations, such as those in theSLC20A2, PDGFRB, PDGFB, XPR1,andMYORGgenes.[
To the Editor: Extragonadal, nongestational choriocarcinomas are very rare neoplasms that mostly arise spontaneously in midline structures, such as the retroperitoneum, mediastinum, and vicinity of the pineal body, but they also have been reported in other visceral organs, such as the stomach, esophagus, small bowel, prostate, and urinary bladder.[
To the Editor: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease which impacts many parts of the body including the digestive, circulatory, and respiratory systems. The central nervous system (CNS) can also be affected, particularly in patients with familial HLH-2 (FHL-2), responsible for approximately 20% of all FHL. FHL-2 is a result of mutations to theperforin 1(PRF1) gene, which can occur at numerous sites on the gene.[
To the Editor: The patient was a 16-year-old adolescent boy who was diagnosed with congenital megacolon. He had difficulty with defecating for more than 10 years. His bowel movements stopped more than 1 week ago. He was admitted to the hospital with incomplete intestinal obstruction. The patient showed signs of moderate nutrition, poor mental health, and full abdominal bulging and had an abdominal circumference of 104 cm. Rectal examination showed blasting exhaust and defecation, and the anal pressure measurement value was 89 mmHg. The total abdominal augmentation computed tomography and total colorectal sputum angiography showed that the upper and middle rectum, descending colon, transverse colon, and ascending colon were dilated, the maximum diameter of the intestine was 23 cm, and the intestine was filled with feces, suggesting that the lower rectum and sigmoid colon were narrow [
To the Editor: Septic pulmonary embolism (SPE) is a rare type of nonthrombotic pulmonary embolism, in which, emboli-containing pathogens and purulent material admixed with fibrin thrombus embolize to the pulmonary artery, causing pulmonary embolism with focal lung infection. Embolization from this complex results in stenosis and/or obstruction of small pulmonary vessels, which frequently causes pulmonary infection. SPE is usually associated with the use of infected central venous catheters and with endocarditis, septic thrombophlebitis (including Lemierre’s syndrome), and oropharyngeal infection.[
To the Editor: The unicornuate uterus arises from the anastomotic failure of the paired Mullerian ducts in which simultaneously either of them is underdeveloped or absent, termed the "rudimentary horn" . The horn is connected to the unicornuate side by either a minimally connected narrow fibrous band of tissue or a broad, firm muscular attachment; the muscular layer of the horn varies from thick and strong to thin and malformed. The rarest and most severe complication is rudimentary horn pregnancy (RHP), usually results in catastrophic consequences. We refer to 11 RHP cases from Peking Union Medical College Hospital (PUMCH) since 1980.
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