Volume 97  ·  Issue 43  ·  2017

With the in-depth development of neuroultrasound work, more and more neurological and surgeons have begun to independently perform cervical vascular ultrasound, transcranial parenchymal ultrasound and peripheral nerve ultrasound. This part can be used for corresponding standardized training for doctors at all levels.

To investigate a novel mutation in the HAND1 gene associated with sporadic dilated cardiomyopathy (DCM).

From February 2013 to February 2017, the clinical data and peripheral venous blood samples were collected from 120 patients with sporadic DCM and 200 healthy controls, who were both from the Fifth People′s Hospital of Shanghai, Fudan University and Shanghai Chest Hospital, Shanghai Jiaotong University.The genomic DNA was extracted from the study participants.The coding exons of HAND1 were amplified from the study subjects by polymerase chain reaction, and were sequenced for a potential HAND1 mutation.The online computer programs MUSCLE and Mutation Taster were used to analyze the conversation of an altered amino acid and to predict the disease-causing potential of an identified mutation, respectively.The wild-type HAND1 was cloned and the mutant was generated by site-directed mutagenesis.The Dual-luciferase reporter assay kits were used to explore the functional characteristics of the mutant HAND1.

A novel heterozygous mutation, a substitution of thymine for guanine at nucleotide 346 (c.346G>T), predicting the conversion of a glutamic acid-encoding codon into a stop codon at codon 116 (p.E116X), was detected in a patient with sporadic DCM.The nonsense mutation was absent in the 200 control individuals.The altered glutamic acid at amino acid position 116 was highly conserved evolutionarily, and the mutation was predicted to be pathogenic.Biological analyses revealed that the mutant HAND1 lost the ability to transcriptionally activate a target gene.

Loss-of-function mutation in HAND1 is likely to be an uncommon cause responsible for sporadic DCM.

To observe the clinical effectiveness and safety of ticagrelor in patients after percutaneous coronary intervention (PCI) because of acute non ST segment elevation myocardial infarction (NSTEMI) in China.

A total of 240 patients with NSTEMI were analyzed retrospectively from Beijing Anzhen hospital between Jan 2013 and Jan 2015, with 113 patients in the clopidogrel group, 127 in the ticagrelor group. ADP-induced platelet aggregation was investigated 1, 3 and 6 month later after PCI, and major adverse cardiac events (MACE) and thrombolysis in myocardial infarction (TIMI) bleeding were followed-up for 6 months.

ADP-induced platelet aggregations of the ticagrelor group [(29±5)%, (29±6)%, (26±7)%] were decreased significantly compared with the clopidogrel group [(50±9)%, (49±9)%, (46±8)%] 1, 3 and 6 month later after PCI (P<0.01). Compared with the clopidogrel group (17.7%), the incidence of MACE of ticagrelor group (7.09%) was significantly decreased 6 month later after PCI (P<0.05), but there were no statistical differences in the incidence of TIMI major bleeding and secondary hemorrhage between the two groups (P>0.05).

Ticagrelor combined with aspirin can decrease the MACE incidence of NSTEMI, and do not increase TIMI major bleeding and secondary hemorrhage.

To analyze the contrast echocardiography for detecting right to left shunt in adults with patent foramen ovale(PFO), and study the relationship between PFO and cryptogenic stroke.

Clinical data of forty-six adults patients with PFO diagnosed by transesophageal echocardiography(TEE)from March, 2012 to March, 2017 were retrospectively collected, and the patients were divided to 3 groups according to the direction and brightness of the color Doppler shunts: obvious left-to-right shunt (OLRS, group A), weak left-to-right shunt(WLRS, group B), bi-directional shunt(BDS, group C). A right-to-left shunt (RLS) scale was calculated using the method of 10 ml hand-operated saline for contrast echocardiography.

There were seventeen cases in group A, four cases (23.5%) showed RLS at level 1, and thirteen cases (76.5%) showed no RLS; there were twenty cases in group B, and all cases (100%) showed RLS, with five cases (25%) at level 1 and fifteen cases (75%) at level 2-3; there were nine cases in group C, and all cases (100%) showed RLS, with two cases (22.2%) at level 1 and seven cases (77.8%) at level 2-3. Anteroposterior diameter of left atrium of patients with no RLS (4.8 cm±0.6 cm) was significantly larger than that of patients with RLS in contrast echocardiography (3.6 cm±0.5 cm)(P=0.000).

OLRS of adults with patent foramen ovale and with larger left atrium have less RLS than WLRS and DLRS with normal left atrium in contrast echocardiography.The possibility of paradoxical embolism in WLRS and DLRS is higher than that in OLRS, which should be taken seriously in clinical practice.

To investigate the relationship between frailty and depression by analyzing the clinical data, frailty and depression in the elderly outpatients.

This study included outpatients who visited the Geriatric Section of West China Hospital from July 1, 2016 to December 31, 2016.Clinical characteristics and complications in patients were evaluated comprehensively.The debilitating condition of patient was assessed by the international society for elderly nutrition simple weakness questionnaire (Fatigue, Resistance, Ambulation, Illnesses, Loss of Weight.FRAIL). The depression was assessed by the 30-Item Geriatric Depression.

Regression analysis showed that pre-frail (OR 3.286, 95%CI 1.59-3.98) and frail (OR 4.139, 95%CI 1.52-14.40) elder adults had a higher risk of depression than other elders.

Pre-frail and frail elders are at high risk of depression

To investigate the relationship between the expression of macrophage migration inhibitory factor (MIF) gene and the incidence of gestational diabetes mellitus (GDM) in Chinese Han population in northern China.

This study was consisted of 126 GDM women and 150 cases of healthy subjects who came from the obstetrics department of Maternity Hospital of Qingdao University and Maternity and Child Care Hospital of Donggang District of Rizhao. The protein expression of MIF in placenta tissue was detected by Western blot method. The blood glucose, insulin levels and other clinical physicochemical index were tested. The differences of MIF, fasting blood-glucose (FBG), fasting insulin (FIN) and the homeostasis model assessment of insulin resistance (HOMA-IR) were compared between the two groups of pregnant women.

The level of MIF protein in GDM group (0.85±0.10) was higher than that in healthy pregnant group (0.12±0.09), with significant difference (P<0.001). Insulin resistance index in GDM group were higher than that in healthy pregnant group, with significant difference (P<0.001).

The expression of MIF in placental tissues of GDM women was increased and correlated with insulin resistance in GDM patients, suggesting that MIF may play an important role in the occurrence and development of GDM.

Death risk factors of patients with antineutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV) were explored by the analysis of clinical characteristics of AAV patients, as to provide the basis for early diagnosis and treatment, and reduction of mortality and also improvement of prognosis.

A retrospective study was conducted in patients with AAV which were admitted to this hospital from November 2003 to February 2017, by the contrasts of the similarities and differences of clinical characteristics between the death group and non-death group, for explore the risk factors of death.

(1) A total of 66 patients with AAV were included in this study, in which 20 were died (male/female was 12/8), and 46 were still alive, with a total mortality rate of 30.3%.(2)The average age of disease onset in the death group was (67±13) years, which was significantly higher than that of the control group (55±18, P=0.009). (3)The mean value of vasculitis damage index (VDI) in the death group was (6.4±2.5), which was significantly higher than that in the non-death group (4.4±2.5, P=0.006). (4)As to multiple organs involvements among the heart, lung, kidney, gastrointestinal tract, central nervous system and other organs, the proportion of three or more organs involvement in the death group was 85% (17/20), which was significantly higher than that in the control group 47.8%(22/46), P=0.004 8.The incidence of heart murmurs, recent premature beats, aortic insufficiency, chronic heart failure/cardiomyopathy, and massive hemoptysis were significantly higher than those in the control group (P<0.05). (5) The incidence of infection in the death group (55%) was significantly higher than that in the control group (28.3%,P=0.038).

An onset age of more than 65, multiple organs involvement, especially the occurrence of massive hemoptysis, heart valve diseases, heart failure and other cardiovascular involvements, increased VDI and combination of infections are the risk factors of death in AAV patients.

To investigate the risk factors of death in patients with sepsis.

From August 2014 to August 2016, 58 patients suffering sepsis in intensive care unit (ICU) of the People′s Liberation Army 105 Hospital were prospectively analyzed.All patients were divided into survival group (n=39) and death group (n=19). The patients′ gender, age, past medical history, acute physiology and chronic health system Ⅱ(APACHE Ⅱ), Sequential organ failure assessment(SOFA) score, B-type natriuretic peptide, lactate, procalcitonin, left ventricle EF%, right ventricle Tei index were measured within 24 h after admission in ICU.Logistic regression analysis was used to evaluate the risk factors of death in septic patients.the hospital mortality of sepsis was assessed by receiver operating character (ROC) curves.

The hospital mortality rate of sepsis was 32.8% (19/58). Logistic regression analysis showed that SOFA score [OR=2.34, 95%CI: 1.069-5.258, P<0.01], cTnI[OR=1.21, 95%CI: 1.017-1.437, P=0.032], Tei index[OR=1.56, 95%CI: 1.082-2.263, P=0.017]. The APACHEⅡ, SOFA score, lactic acid, cTnI, Tei index and cTnI combined with Tei index predicted the hospital mortality of sepsis with the area under ROC curve (AUC) of 0.821, 0.848, 0.790, 0.756, 0.962, 0.982, respectively.

Tei index and cTnI may be the independent risk factors of sepsis in patients with sepsis, and the incidence of major adverse cardiac events was high.

To determine the effects of different computed high b-value on diffusion weighted imaging (DWI) scores in Prostate Imaging Reporting and Data System version 2 (PI-RADS v2) of prostate cancer in peripheral zone.

A retrospective study of 104 cases of prostate cancer in peripheral zone was conducted, all of the patients were histopathologically confirmed by transrectal ultrasound guided saturation biopsy or radical prostatectomy in Tongji Hospital of Tongji University from January 2012 to December 2015.All MRI imaging examinations were performed by using a 3.0T Siemens Verio MRI scanner.The imaging protocol consisted of high-resolution axial and sagittal T₂ weighted imaging (T₂WI), axial acquired diffusion weighted imaging (aDWI) with b=0, 50, 1 000 s/mm² and dynamic contrast-enhanced (DCE) scans.Computed diffusion weighted imaging (cDWI) images with b=1 000, 1 400, 2 000 s/mm² were processed by Matlab.These three groups of cDWI images were analyzed according to the PI-RADS v2 criteria, and signal intensity of ratio (SIR) of lesions were analyzed by independent t test and one-way ANOVA in each group.

The numbers of cases with a DWI score of 2 and 5 were similar among three groups.Nine cases (33.3%) in all 27 cases with a DWI score of 3 on b=1 000 s/mm² upgraded to score 4 when b-value rose to 1 400 and 2 000 s/mm².The ratios of SIR of lesions in cases upgraded from DWI score 3 to 4 to those unchanged cases on b=1 400 and 2 000 s/mm² were 1.86±0.21 to 1.61±0.27 and 2.18±0.26 to 1.75±0.30, respectively (t=2.486, t=3.671, both P<0.05). In these 9 cases who upgraded to DWI score 4, SIRs of the lesion were significantly different between groups when b=1 000, 1 400 and 2 000 s/mm² (F=10.907, 33.768, 8.043, all P<0.05), and their SIRs increased with the rising of b-value.

The computed high b-value (b≥1 400 s/mm²) mainly affects cases with a DWI score of 3, but DWI scores would not change neither in b=1 400 s/mm² nor in 2 000 s/mm² cases. For DWI score in PI-RADS v2 of prostate cancer in peripheral zone, b=1 400 s/mm² is probably of more scoring value than b=1 000 or 2 000 s/mm².

To investigate the value of spectral computed tomography quantitative parameters in the assessment of pathological grade of esophageal squamous cell carcinoma before operation.

The imaging findings of 52 patients with confirmed esophageal squamous cell carcinoma by surgery and pathology were prospectively analyzed in Henan Provincial People′s Hospital from June 2016 to May 2017.There were 43 males and 9 females, aged 49-76 years, with an average age of (66±8) years.All the patients were divided into three groups based on the pathological finding: well-differentiated group (n=12), moderately-differentiated group (n=20), poorly-differentiated group (n=20). All the patients received chest plain scan and double phase enhanced scan of gemstone spectral computed tomography.The enhancement attenuation (HU), the average of the slope of the spectral Hounsfield Unit curve (λ_HU), normalized iodine concentration (NIC), normalized effective atomic number (Z_eff-a) were measured and calculated.The difference in HU, λ _HU, NIC, Z_eff-a among different grades were statistically analyzed.The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficiency of single and combined parameters in the differentiation of poorly-differentiated and well-moderately differentiated esophageal squamous cell carcinoma.

There were significant differences in HU, λ _HU, NIC, Z_eff-a among different pathological grading of the esophageal squamous cell carcinoma in arterial phase and venous phase (F=4.496-9.056, H=23.204, 20.724, all P<0.05). The best single parameter to differentiate poorly-differentiated from well-moderately differentiated esophageal squamous cell carcinoma was NIC in arterial phase with areas under the ROC curve (AUC), the cutoff value, sensitivity, specificity, accuracy of 0.860, 0.197, 65.0%, 96.9%, 84.6%, respectively; the best combination of parameters was HU+ NIC+ λ_HU in arterial phase with AUC, the threshold of predicted probability, sensitivity, specificity, accuracy of 0.913, 0.380, 85.0%, 81.3%, 82.7%, respectively.

Gemstone spectral imaging quantitative parameters can be used to evaluate the pathological grading of esophageal squamous cell carcinoma, the NIC and HU+ NIC+ λ _HU in arterial phase have the highest differential diagnostic efficiency.

To analyze patients′ tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer.

From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given.

Among all 220 patients, 10 (4.5%) denied further counseling.For 210 patients receiving genetic counseling, 170 (81%) accepted genetic tests.In multivariate analysis, risk factors relevant to acceptance of genetic tests included: being charged by physicians of gynecologic oncology for diagnosis and treatment, receiving counseling in genetic counseling clinics, and having family history of breast cancer.For patients denying genetic tests, there were many subjective reasons, among which, "still not understanding genetic tests" (25%) and "unable bear following expensive targeting medicine" .

High proportion patients of epithelial ovarian cancer would accept genetic counseling and tests.Genetic counseling clinics for gynecologic oncology would further improve genetic tests for patients.

To compare the decolorization efficiency of lignin peroxidase (LiP), manganese peroxidase (MnP) and laccase on eumelanin and pheomelanin, and to investigate the effect of topical administration of LiP solution on hyperpigmented guinea pigs skin induced by 308 nm excimer light.

Pheomelanin-enriched specimens were prepared from human hair and cutaneous melanoma tissue using alkaline lysis method.Synthetic eumelanin was purchased from a commercial supplier.The same amount (0.02%) of melanin was incubated with the equal enzyme activity (0.2 U/ml) of ligninolytic enzymes for 3 h respectively.The absorbance at 475 nm (A₄₇₅) in the enzyme-catalyzed solution was measured using ELISA microplate reader.The experimental hyperpigmentation model was established in the dorsal skin of brownish guinea pigs using 308 nm excimer light radiation.LiP and heat-inactivated LiP solution were topically applied at each site.Meanwhile, 3% hydroquinone and vehicle cream were used as control.The skin color (L value) was recorded using a CR-10 Minolta chromameter.Corneocytes were collected using adhesive taping method.The amount and distribution of melanin in the corneocytes and skin tissues was visualized by Fontana-Masson staining.

All three ligninolytic enzymes showed various degree of eumelanin and pheomelanin decolorization activity.The decolorization activity of LiP, MnP and laccase was 40%-70%, 22%-42% and 9%-21%, respectively.The similar lightening was shown in the skin treated with LiP solution and 3% hydroquinone.The amount of melanin granules in the corneocytes was 199±11 by LiP, which was less than that in untreated control (923±12) and heat-inactive control (989±13). The amount of melanin was decreased in the whole epidermis treated with hydroquinone, the epidermis thickness was increased as well. In contrast, melanin of LiP group was decreased only in the superficial epidermis, the epidermis thickness seemed to be normal.

LiP exerts a potent decolorization activity for hair- or skin-derived pheomelanin as well as eumelanin.It remains to be further investigated whether LiP serves as a substitute for hydroquinone in skin lightening products.

The 11-month-old child was found to have yellow linear spots on the ankle and back of both feet and was seen for 3 months. Three months ago, the parents of the child found several pale yellow stripes on the ankle and back of both feet, but they didn't pay attention to them. The rash gradually thickened and became longer, so they went to the dermatology clinic of Weifang People's Hospital on May 1, 2013. There was no similar medical history in the child's family. Physical examination: The child's vital signs are stable, the general condition is OK, there is no cyanosis, and there is no yellowing stain in the sclera. Cardiopulmonary and abdominal examination showed no abnormalities. Dermatological examination: There is no yellowing stain on the skin and mucosa of the whole body. Several linear pale yellow macules about 3~6 cm long were seen at the folds of the ankle and dorsum of both feet (Figure 1,Figure 2,Figure 3)。 Laboratory test: total cholesterol (TC) 18.5 mmol/L (normal range 2.9-6.3 mmol/L); High density lipoprotein cholesterol (HDL-C) 3.60 mmol/L (normal range 1.16-1.70 mmol/L); Low density lipoprotein cholesterol (LDL-C) 13.88 mmol/L (normal range 2.50-4.30 mmol/L); Triacylglycerol (TG) 0.87 mmol/L (normal range 0.48-1.82 mmol/L); Apolipoprotein-B (apo-B) 2.39 mmol/L (normal range 0.60-1.12 mmol/L); Apolipoprotein A1 (Apo-A1) 1.38 mmol/L (normal range 1.10-1.76 mmol/L); Lipoprotein A was 2.4 mmol/L (normal range 0.0~30.0 mmol/L), and the parents of the child refused to do liver ultrasound, cardiac ultrasound and skin pathology examination. According to the typical clinical manifestations and laboratory examinations of the children, the diagnosis was: palmar striata xanthoma and hyperlipoproteinemia type Ⅱa. The condition improved after giving low-fat diet treatment.

The patient was a 42-year-old female, pregnant with 3 deliveries and 1 pregnancy with^＋6Zhou, with a previous history of uterine fibroids. On the evening of May 13, 2017, there was no obvious trigger for left abdominal pain and he went to the emergency department of our hospital. The emergency ultrasound reported subserous fibroids, and the pedicle was twisted to be discharged and he was admitted to the hospital. He was treated with ceftriaxone anti-inflammatory and fluid rehydration, and the abdominal pain symptoms were relieved. On May 20th, the left lower abdominal pain worsened again, and the symptoms could not be relieved after anti-inflammatory and fluid rehydration treatment, so an emergency laparotomy was performed on the 25th. Laboratory test: high sensitivity C-reactive protein 17.36 mg/L, white blood cells 12.26×10⁹/L, neutrophil ratio 0.806. No obvious abnormalities were found in Yu laboratory tests. Ultrasound examination: A hypoechoic area with a size of about 56 mm ×43 mm ×32 mm was seen in the upper left side of the uterus, which protruded to the outside of the serosa and was oval with clear edges. Capsular echo was seen, and the posterior echo was unchanged. The echo in the mass was inconsistent, and a few liquid dark areas were seen inside. color Doppler flow imaging (CDFI): a little blood flow signal around the mass, but no obvious blood flow signal in the mass; In addition, multiple hypoechoic areas of different sizes were seen in the myometrium of the anterior uterine wall, which were oval in shape. The echoes in the mass were inconsistent, with clear boundaries, capsular echoes were visible, and the posterior echoes were unchanged (Figure 1，Figure 2)。 Abdominal magnetic resonance imaging (MRI) was performed on the 10th day of onset: the morphology of the left ovary was visible, and heterogeneity was seen in the front of the left ovary and the left side of the uterus₁Long T₂Signal mass (Figure 3，Figure 4), about 50 mm ×57 mm ×35 mm in size, with a cord-like short T inside₂Signal, line-like short T was visible at the edge of the mass₁Short T₂Signal and strip-like short T₂Signal (Figure 5，Figure 6)； Diffusion weighted imaging (diffusion weighted imaging, DWI) (b =1 000 s/mm²) The mass showed high intensity, and the apparent diffusion coefficient (ADC) showed high intensity, with an ADC value of 2 535×10^－3mm²/s (Figure 7，Figure 8), DWI (b =0 s/mm) in the lamellar low signal area at the edge of the mass²) is low signal, ADC is low signal, ADC value is 803×10^－3mm²/s (Figure 9，Figure 10)； The mass is connected to the interuterine pedicle. In addition, multiple round long Ts were seen in the myometrium₁Short T₂Signal shadow, the boundary is clearer.

Ischemic stroke accounts for 80% of strokes, and it is very common in clinic. Its recurrence rate, disability rate and mortality rate are high. Numerous studies have confirmed that the inflammatory response plays an important role in the pathological progression of ischemic stroke^[1]。 microglia (MG) is the main immune cell of the central nervous system (CNS) and plays a key role in the inflammatory response in the brain. In recent years, a large number of studies have shown that MG activation after cerebral ischemia has a unique spatial and temporal law, and its different activation phenotypes make it have a dual role of damage protection after cerebral ischemia. This paper reviews the characteristics of MG activation after cerebral ischemia, the main roles of different activation phenotypes, the factors affecting phenotypic changes and their related regulation studies, and provides new ideas for targeted regulation of MG activation and further treatment of ischemic stroke.

In recent years, CT examination has been used more and more in clinic, and people have paid more and more attention to radiation injury. X-ray can induce many types of DNA damage, including double strand breaks (DSBs), single strand breaks, base damage, deficient purine or pyrimidine sites, glycosyl damage and DNA protein crosslinking, among which DSBs have the strongest killing effect on cells^[1]。 At present, physical methods are used to estimate CT radiation dose, such as volume CT dose index (CTDIvol), dose-length product (DLP), etc. These estimates can calculate radiation dose well, but cannot evaluate the biological damage caused by ionizing radiation to human body. In recent years, a large number of studies have shown that DSBs is a potential biological indicator for evaluating CT radiation damage, which can be labeled with the biological protein γ-H2AX^[2,3,4]。 This paper summarizes the relevant research achievements at home and abroad.