ABSTRACT
Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of the CACNA1A gene. EA2 has been rarely reported in the Chinese population. Here we present an EA2 family admitted to Xiangya Hospital in October 2018. The proband was a 22-year-old male who complained of recurrent spells of vertigo, slurred speech, and incoordination for 4 years. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy. He had neuropsychological development disorder in childhood, and cognitive assessment in adulthood showed cognitive impairment. The proband's mother and grandmother had a similar history. Peripheral blood samples from the proband and family members were collected, and genomic DNA was isolated. Whole exome sequencing of the proband detected a heterozygous frameshift mutation c.2042_2043del (p.Q681Rfs*100) of CACNA1A gene. This mutation was verified in the proband and 2 family members using Sanger sequencing. One family member carrying this mutation was free of symptoms and signs, suggesting an incomplete penetrance of the mutation. We reported a variant c.2042_2043del of CACNA1A gene as the pathogenic mutation in a Chinese EA2 family for the first time. This case enriched the clinical spectrum of CACNA1A related EA2, and contributed to the understanding of clinical and genetic characteristics of EA2 to reduce misdiagnosis.
Subject(s)
Adult , Humans , Male , Young Adult , Ataxia , Calcium Channels/genetics , Mutation , Nystagmus, Pathologic , Pedigree , VertigoABSTRACT
OBJECTIVES@#Idiopathic intracranial hypertension (IIH) is a syndrome that excludes secondary causes such as intracranial space-occupying lesion, hydrocephalus, cerebrovascular disease, and hypoxic ischemic encephalopathy. If not be treated promptly and effectively, IIH can cause severe, permanent vision disability and intractable, disabling headache. This study aims to explore the clinical and image features for IIH, to help clinicians to understand this disease, increase the diagnose rate, and improve the outcomes of patients.@*METHODS@#We retrospectively analyzed 15 cases of IIH that were admitted to Xiangya Hospital, Central South University, during January 2015 to September 2020. The diagnosis of IIH was based on the updated modified Dandy criteria. We analyzed clinical data of patients and did statistical analysis, including age, gender, height, weight, medical history, physical examination, auxiliary examination, treatment and outcome.@*RESULTS@#There were 10 females and 5 males. Female patients were 22 to 42 years old with median age of 39.5. Male patients were 27 to 52 years old with the median age of 44.0. The BMI was 24.14-34.17 (28.71±2.97) kg/m@*CONCLUSIONS@#IIH primarily affects women of childbearing age who are overweight. The major hazard of IIH is the severe and permanent visual loss. Typical image signs have high specificity in IIH diagnosis. Prompt diagnosis and effective treatment are significantly important to improve the outcomes of patients.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Anemia, Iron-Deficiency , Intracranial Hypertension , Pseudotumor Cerebri/diagnostic imaging , Retrospective Studies , Ventriculoperitoneal ShuntABSTRACT
【Objective】 To investigate the effect of leukocyte-depleted suspended red blood cells (lds-RBCs) storaged for different time on blood transfusion effect of patients with hematologic diseases and malignant tumors, as well as to evaluate the storage quality of lds-RBCs in blood stations. 【Methods】 Seven hospitals (4 tertiary-A hospitals and 3 secondary-A hospitals), applying for blood from our blood center, were selected. Blood transfusion cases (medical record) and related data (indicators) of patients with blood diseases and malignant tumors in those hospitals from December 2018 to May 2019 were collected, including disease diagnosis (type) before transfusion, demographic characteristics, date of solo transfusion of lds-RBCs, units of lds-RBCs [(1~2)U/bag, 1 U=200 mL whole blood], different storage duration (1~5 weeks) (bar code), and hemoglobin (Hb) 48 h before and after transfusion. The efficacy of lds-RBCs (storaged for different time) transfusion in patients with hematologic diseases and malignant tumors was evaluated by statistical analysis. 【Results】 A total of 3 557 patients with hematologic diseases and malignant tumors were enrolled in this study. No significant changes were noticed in transfusion efficacy by blood transfusion unit, gender and previous transfusion history (P > 0.05). The effective rate of lds-RBCs in patients with blood diseases and malignant tumors, stratified by storage duration, i. e. storaged for >1~2 weeks, >2~3 weeks, >3~4 weeks and more than >4~5 weeks, was 78.77% vs 77.68% vs 75.06% vs 70.37%, and 79.32% vs 76.73% vs 72.79% vs 67.65%, respectively(P<0.05), with lds-RBCs of 4-5 storage weeks presenting the lowest transfusion efficacy in both groups of patients. 【Conclusion】 The storage time of most lds-RBCs supplied by our center is moren than 3 weeks, and the transfusion effect of lds-RBCs stored for 5 weeks needs further observation. In order to ensure and improve the efficacy of blood transfusion, evidence-based medicine and information management are needed to help the clinical gasp the advantageous time of blood products and shorten the storage-to-transfusion time of red blood cells.
ABSTRACT
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multi-organ and multisystemic involvement and various clinical manifestations.Bone marrow mesenchymal stem cells (BM-MSCs),a kind of non-hematopoietic stem cells originating from the mesoderm,are key components of hematopoietic microenvironment.Recent studies have indicated that SLE is a disorder of stem cells.Both hematopoietic and mesenchymal stem cells (MSCs) are abnormal in SLE,which mainly manifests as changes of biological characteristics,abnormal cytoskeleton and ultrastructure,shortened telomeres,increased telomerase and SA-β-Gal acitivity,decreased differentiative ability,aberrant immunoregulatory effect,and other features of senescence.The mechanism of MSC aging may be related to up-regulated expressions of aging-related genes p53/p21cip1,p16INK4a/Rb and p27kip1/pTEN,elevated levels of reactive oxygen species (ROS),endoplasmic reticulum stress,epigenetic alterations,etc.
ABSTRACT
Objective To evaluate biological behaviors of bone marrow mesenchymal stem cells (BMSCs) from patients with systemic lupus erythematosus (SLE),to confirm that the BMSCs are aging stems cells,and to explore mechanisms underlying their aging.Methods BMSCs were isolated from bone marrow of 6 patients with SLE (patient group) and 8 healthy human controls (control group) by density-gradient centrifugation and plastic adherence,and cultured in vitro.Optical microscopy was conducted to observe morphological changes and growth of BMSCs,and growth curves were drawn.The differentiation ability of BMSCs was evaluated through culture of them with adipogenic and osteogenic induction medium.Flow cytometry was performed to identify cellular surface markers and to analyze cell cycle and apoptosis,and scratch assay to assess the migration ability of BMSCs.Immunofluorcscence assay and Western blot analysis were carried out to analyze the distribution and expression of p27kip1/PTEN in BMSCs respectively.Results Patient-derived BMSCs,which had a broad,fiat and polygonal shape,showed decreased growth rate,migration activity as well as adipogenic and osteogenic ability compared with those from the controls.There was a significant increase in the proportion of BMSCs in early stage (17.98％ ± 3.26％ vs.8.23％ ± 3.25％,t =3.91,P =0.011) as well as in middle to late stages (16.80％ ± 9.63％ vs.3.33％ ± 2.21％,t =2.99,P=0.048) of apoptosis in the patient group compared with the control group.Moreover,compared with the control group,the patient group showed a significantly higher proportion of BMSCs arrested in the G0/G1 phase (92.34％ ± 5.80％ vs.78.65％ ± 3.22％,t =3.635,P =0.015),but a lower proportion in the S phase (0.86％ ± 1.72％ vs.5.06％ ± 1.874％,t =3.084,P=0.027).The protein expressions of p27 and PTEN were significantly higher in the patient group than in the control group (p27/β-actin:t =2.784,P=0.039;PTEN/β-actin:t=4.812,P =0.041).Conclusion The BMSCs from SLE patients exhibit senescence-related features,which may be associated with elevated expression levels of p27kip1/PTEN.
ABSTRACT
A 11-year-old child diagnosed as chronic tonsillitis and adenoid hypertrophy underwent adeno-tonsillectomy under general anesthesia. After surgery, patient complained with abdominal discomfort, paleness and vomiting, which presented as the old black contents. Complete blood count showed: 45.2 g/L, hemoglobin of red blood cells 2.57 x 10(12)/L, An emergency gastroscopy confirmed gastric ulcer with hemorrage. Hemorrage was controlled and complete blood count results restored to normal after supportive therapy. Gastric ulcer completely recovered two weeks after discharge.
Subject(s)
Child , Humans , Male , Adenoidectomy , Peptic Ulcer Hemorrhage , Postoperative Complications , Stomach Ulcer , TonsillectomyABSTRACT
Objectives To investigate the image quality,influencing factors and radiation doses of prospectively ECG-triggered spiral acquisition mode (Flash spiral mode)coronary computed tomography angiography (CCTA) using high-pitch dual-source CT in patients with different heart rates.Methods One hundred and thirty-four consecutive patients with mean heart rate (HR) ＞ 65 beats per minute (bpm) and ≤ 100 bpm were included in this study as group A using Flash spiral mode setting at 20％ -30％ of the R-R interval and 134 consecutive patients with mean HR ≤65 bpm were enrolled as group B using Flash spiral scan mode at 55％ of the R-R interval; 134 consecutive patients with mean HR ＞ 65 and≤100 bpm using spiral scan mode were included as group C. The image quality scores, effective radiation dose and influencing factors of image quality in three groups were assessed. All statistical analyses were performed using SPSS.Results (1)The non-diagnostic coronary artery segments in group A (28/1842,1.52％) were more than in group B (8/1819,0.44％ ) ( x2 =10.97,P =0.001 ) and there was no significant difference between group A and group C (32/1838,1.74％) ( x2 =0.280,P =0.345).The number of patients with non-diagnostic coronary segments in group A( 10/134,7.5 ％ )was more than in group B (2/134,1.5 ％,x2 =5.52,P =0.018 ),while there was no significant difference between group A and group C (9/134,6.7％,x2 =0.057,P =0.812).(2)The average heart rate variability (HRV) of patients with different image scores in the three groups wcrc significantly different. In group A,the HRV of score 1,2 and 3 were (2.29 ± 1.06),(5.17 ± 1.37),(8.88 ± 1.53) bpm,respectively (F =170.402,P =0.001 ).In group B were (2.26±1.01),(5.97 ±1.82),(12.00 ±9.64) bpm,respectively (F=95.843,P=0.001).In group C were (2.61 ±1.85),(7.90 ±3.97),(11.22 ±5.62) bpm,respectively (F=68.629,P=0.001 ). (3) The average effective radiation doses in groups A and B were significant lower than in group C [ A group was 1.04 ± 0.16,B group was 1.03 ± 0.16 and C group was 7.05 ± 1.05,t =65.5 ( A vs C),P ＜0.01 ( A vs C) ].Conclusions Flash spiral mode of high-pitch dual-source provides high image quality with significant reduction of radiation exposure in patients with HR ≤ 65 bpm. Patients with heart rates ＞65 bpm and ≤100 bpm without cardiac arrhythmia can perform CCTA using Flash spiral mode with image acquisition time setting at 20％-30％ of the R-R interval.