High-grade serous carcinoma of the fallopian tube in a young woman with chromosomal 4q abnormality:A case report

BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.

Tooth number abnormality:from bench to bedside

Tooth number abnormality is one of the most common dental developmental diseases,which includes both tooth agenesis and supernumerary teeth.Tooth development is regulated by numerous developmental signals,such as the well-known Wnt,BMP,FGF,Shh and Eda pathways,which mediate the ongoing complex interactions between epithelium and mesenchyme.Abnormal expression of these crutial signalling during this process may eventually lead to the development of anomalies in tooth number;however,the underlying mechanisms remain elusive.In this review,we summarized the major process of tooth development,the latest progress of mechanism studies and newly reported clinical investigations of tooth number abnormality.In addition,potential treatment approaches for tooth number abnormality based on developmental biology are also discussed.This review not only provides a reference for the diagnosis and treatment of tooth number abnormality in clinical practice but also facilitates the translation of basic research to the clinical application.

Embryo quality and chromosomal abnormality in embryos from couples undergoing assisted reproductive technology using preimplantation genetic screening

Objective:To detect common chromosomal aneuploidy variations in embryos from couples undergoing assisted reproductive technology and preimplantation genetic screening and their possible associations with embryo quality.Methods:In this study,359 embryos from 62 couples were screened for chromosomes 13,21,18,X,and Y by fluorescence insitu hybridization.For biopsy of blastomere,a laser was used to remove a significantly smaller portion of the zona pellucida.One blastomere was gently biopsied by an aspiration pipette through the hole.After biopsy,the embryo was immediately returned to the embryo scope until transfer.Embryo integrity and blastocyst formation were assessed on day 5.Results:Totally,282 embryos from 62 couples were evaluated.The chromosomes were normal in 199(70.57%)embryos and abnormal in 83(29.43%)embryos.There was no significant association between the quality of embryos and numerical chromosomal abnormality(P=0.67).Conclusions:Embryo quality is not significantly correlated with its genetic status.Hence,the quality of embryos determined by morphological parameters is not an appropriate method for choosing embryos without these abnormalities.

Multi-Headed Deep Learning Models to Detect Abnormality of Alzheimer’s Patients

Worldwide,many elders are suffering from Alzheimer’s disease(AD).The elders with AD exhibit various abnormalities in their activities,such as sleep disturbances,wandering aimlessly,forgetting activities,etc.,which are the strong signs and symptoms of AD progression.Recognizing these symptoms in advance could assist to a quicker diagnosis and treatment and to prevent the progression of Disease to the next stage.The proposed method aims to detect the behavioral abnormalities found in Daily activities of AD patients(ADP)using wearables.In the proposed work,a publicly available dataset collected using wearables is applied.Currently,no real-world data is available to illustrate the daily activities of ADP.Hence,the proposed method has synthesized the wearables data according to the abnormal activities of ADP.In the proposed work,multi-headed(MH)architectures such as MH Convolutional Neural Network-Long Short-Term Mem-ory Network(CNN-LSTM),MH one-dimensional Convolutional Neural Network(1D-CNN)and MH two dimensional Convolutional Neural Network(2D-CNN)as well as conventional methods,namely CNN-LSTM,1D-CNN,2D-CNN have been implemented to model activity pattern.A multi-label prediction technique is applied to detect abnormal activities.The results obtained show that the proposed MH architectures achieve improved performance than the conventional methods.Moreover,the MH models for activity recognition perform better than the abnormality detection.

Abnormality of Magnetic Behavior and Resistivity of La_(0.7-x)Dy_x Sr_(0.3)MnO_3 (0.00≤x≤0.30)System at Low Temperature

By measuring M-T curves, ρ-T curves and MR-T curves of the samples under different temperatures, the influence of Dy doping （0.00 ≤ x ≤0.30） on the magnetic and electric properties of La0.7-xDyxSr0.3MnO3 has been studied. The experimental results show that, with the increase of the Dy content, the system undergoes a transition from long range ferromagnetic order to the cluster-spin glass state and further to antiferromagnetic order. For the samples with x=0.20 and 0.30, their magnetic behaviors are abnormal at low temperature, and their resistivities at low temperature have a minimum value. These peculiar phenomena not only come from the lattice effect induced by doping, but also from extra magnetic coupling induced by doping.

Regional brain structural abnormality in ischemic stroke patients:a voxel-based morphometry study

Our previous study used regional homogeneity analysis and found that activity in some brain areas of patients with ischemic stroke changed significantly. In the current study, we examined structural changes in these brain regions by taking structural magnetic resonance imaging scans of 11 ischemic stroke patients and 15 healthy participants, and analyzing the data using voxel-based morphometry. Compared with healthy participants, patients exhibited higher gray matter density in the left inferior occipital gyrus and right anterior white matter tract. In contrast, gray matter density in the right cerebellum, left precentral gyrus, right middle frontal gyrus, and left middle temporal gyrus was less in ischemic stroke patients. The changes of gray matter density in the middle frontal gyrus were negatively associated with the clin- ical rating scales of the Fugl-Meyer Motor Assessment （r = -0.609, P = 0.047） and the left middle temporal gyrus was negatively correlated with the clinical rating scales of the nervous functional deficiency scale （r = -0.737, P = 0.010）. Our findings call objectively identify the functional abnormality in some brain regions of ischemic stroke patients.

A Diagnostic Study on the Relationship between the Assembling of Low Frequency Waves in the Pacific Ocean and the Abnormality of the Subtropical High

By use of the filter analysis technique, the Complex Empirical Othogonal Function (CEOF) method and the ECMWF/WMO 2.5°×2.5°grid data of the geopotential heights during the summer months in 1988, an interseasonal process that the western Pacific subtropical high (WPSH) was anomalously far to the north in the first and second ten days of July is studied. It has been found that in the western Pacific subtropical region in the first and second ten days of July,it is the continuous assembly of low frequency geopotential waves (LFGWs) that leads to the abnormality of WPSH. This abnormality emerges with the enhancement of wave assembling and ceases while the wave assembling situation disappears. The structure of the low frequency assembling waves corresponds to the structure of subtropical high in its abnormal period. The effect of the assembling waves on the abnormality of subtropical high can be considered as the accumulation of disturbance energy carried by the low frequency waves from different directions in the western Pacific region.

Nr2e1 Downregulation Is Involved in Excess Retinoic Acid-induced Developmental Abnormality in the Mouse Brain

Objective This study aimed to investigate the expression pattern and function of Nuclear receptor subfamily 2 group E member 1 （Nr2e1） in retinoic acid （RA）-induced brain abnormality. Methods The mouse model of brain abnormality was established by administering 28 mg/kg RA, and neural stem cells （NSCs） were isolated from the mouse embryo and cultured in vitro. Nr2e1 expression was detected by whole mount in situ hybridization, RT-PCR, and Western blotting. Nr2e1 function was determined by transducing Nr2e1 sh RNA into NSCs, and the effect on the sonic hedgehog （Shh） signaling pathway was assessed in the cells. In addition, the regulation of Nr2e1 expression by RA was also determined in vitro. Results Nr2e1 expression was significantly downregulated in the brain and NSCs of RA-treated mouse embryos, and knockdown of Nr2e1 affected the proliferation of NSCs in vitro. In addition, a similar expression pattern of Nr2e1 and RA receptor （RAR） α was observed after treatment of NSCs with different concentrations of RA. Conclusion Our study demonstrated that Nr2e1 could be regulated by RA, which would aid a better understanding of the mechanism underlying RA-induced brain abnormality.

Abnormality Degree Detection Method Using Negative Potential Field Group Detectors

Online monitoring methods have been widely used in many major devices, however the normal and abnormal states of equipment are estimated mainly based on the monitoring results whether monitored parameters exceed the setting thresholds. Using these monitoring methods may cause serious false positive or false negative results. In order to precisely monitor the state of equipment, the problem of abnormality degree detection without fault sample is studied with a new detection method called negative potential field group detectors（NPFG-detectors）. This method achieves the quantitative expression of abnormality degree and provides the better detection results compared with other methods. In the process of Iris data set simulation, the new algorithm obtains the successful results in abnormal detection. The detection rates for 3 types of Iris data set respectively reach 100%, 91.6%, and 95.24% with 50% training samples. The problem of Bearing abnormality degree detection via an abnormality degree curve is successfully solved.

The role of immune abnormality in depression and cardiovascular disease

Depression and cardiovascular disease （CVD） are both highly prevalent disorders, and some evidence shows that there is a ＇vicious cy- cle＇ linking major depression and CVD. There is also growing evidence that immune abnormalities underpin the common pathophysiology of both CVD and major depression. The abnormalities include the following： abnormal levels of inflammatory markers, such as interleukin-6 （IL-6）, interleukin-1β （IL-1β）, minor necrosis factor α （TNF-α） and interleukin-12 （IL-12）; increased acute phase proteins, such as C-reactive protein, fibrinogen and haptoglobin; and abnormal complement factors. The findings show that major depression and CVD patients have greater immune abnormalities, which may increase depressive symptoms and cardiovascular pathological changes, and that there may be a bidirectional relationship, therefore more prospective studies are needed to draw conclusions.

DISTRIBUTION OF LOW FREQUENCY WAVES IN NORTH PACIFIC AND INTRASEASONAL ABNORMALITY OF THE WESTERN PACIFIC SUBTROPICAL HIGH

By using ECMWF (2. 5°×2. 5°) grid data, analyzing correlation for the summer (June-August) of 1980 (the West Pacific Subtropical High (WPSH) anomalously more to the south), 1988 (the WPSH anomalously more to the north), 1981 (normal) in the west Pacific area, distribution characteristics of the low frequency waves are discussed. The relationship between distribution of the low frequency waves and intraseasonal abnormality of the west subtropical high is also analyzed. There is some discussions:(1)If the WPSH acts anomalously in summer, there is a distinct zonal wave series in the subtropical zone of the north Pacific.(2) One of the important characteristics of the WPSH abnormality is that there are low frequency geopotential high centres from east Pacific and northeast Asia, being combined in the west Pacific area.For different circulation, the combination areas are different, which define the WSPH anomalously more to the north or south.

Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

Atresia of the appendix vermiformis:A rare case of developmental abnormality

Acute appendicitis,which requires immediate surgical intervention,is an important diagnosis in patients with acute abdomen.However,developmental abnormalities may interfere with the preoperative diagnosis and surgical treatment in some cases.Agenesis and atresia of the cecal vermiform appendix is an extremely rare clinical diagnosis.In addition,preoperative diagnosis may be difficult in some cases.Thus,diagnosis of the congenital absence of the vermiform appendix requires a thorough exploration of the retrocecal and ileocecal regions.A 59-year-old male was admitted from the emergency services with right lower abdominal pain.A celiotomy was performed with the suspicion of acute appendicitis.However,an atresia of the vermiform appendix was observed.The patient's appendix was thus removed.Pathological examination confirmed suppurative appendicitis.This case underlines the importance of the clinical entity for surgeons who may deal with a similar case.

TCM TREATMENT OF MALE INFERTILITY DUE TO SEMINAL ABNORMALITY A Clinical Observation of 82 Cases

82 male patients of infertility due toseminal abnormality were treated by Ju JingPowder(聚精散)with a total effective rate of85.4%.The sperm density in seminal fluid,the total sperm number in a single ejaculationand the activity rate of sperms markedly im-proved as compared with those before treat-ment(P【0.01),especially the grading ofsperm motility.

Rapid Diagnosis with FISH for Chromosomal Abnormality of Fetal Pyelectasia

Fluorescence in situ Hybridization （FISH） was used to investigate whether the chromosome of the fetus prenatally diagnosed as pyelectasis was normal or not. Amniotic fluid was taken from the pregnant woman whose fetus was detected with pyelectasia by prenatal examination. The chromosome of the amniotic fluid cell without culture was examined with FISH. The result shows that compared with the traditional amniotic fluid cell culture, FISH has the advantages of more rapid, higher sensitivity and specificity, and was 10-12 days earlier to complete the diagnosing than the traditional method. The fetuses detected chromosomal abnormality in each groups were induced during the middle and late trimester, while those fetuses with normal chromosome continued pregnancy, the rate of spontaneous disappearance of pyelectasia decreased as the severity of pyelectasia increased. FISH can satisfy the urgent need in the clinical prenatal diagnosis due to its rapidity to determine whether fetus with pyelectasia was accompanied with chromosomal.

Abnormality of peripheral nerve conduction velocity associated with illness course, symptoms and fasting blood glucose in patients with type 2 diabetes mellitus

BACKGROUND: It has shown that abnormality of peripheral nerve conduction velocity during onset of diabetes mellitus is not related to age and sex, but to symptoms, illness course and level of fasting blood glucose. OBJECTIVE: To measure correlation of abnormality of peripheral nerve conduction velocity with various illness courses, symptoms and levels of fasting blood glucose of patients with type 2 diabetes mellitus. DESIGN: Case analysis. SETTING: Department of Neurology, Central People's Hospital of Huizhou. PARTICIPANTS: A total of 128 patients who were diagnosed as type 2 diabetes mellitus were selected from Central People's Hospital of Huizhou from September 2001 to October 2005. There were 75 males and 53 females aged 32-83 years and the illness course ranged from 1 month to 20 years. METHODS: All 128 patients with type 2 diabetes mellitus received neuro-electrophysiological study and their clinical data were retrospectively analyzed to measure peripheral nerve conduction velocity and fasting blood glucose so as to investigate the correlation of peripheral nerve conduction velocity with clinical symptoms, illness course and levels of fasting blood glucose. MAIN OUTCOME MEASURES: Correlation of peripheral nerve conduction velocity with clinical symptoms, illness course and levels of fasting blood glucose. RESULTS: All 128 patients with type 2 diabetes mellitus were involved in the final analysis. ① Among 128 patients, 114 patients had abnormality of peripheral nerve conduction velocity; 110 patients had clinical symptoms, including 102 patients having abnormality of peripheral nerve conduction velocity; 18 patients did not have clinical symptoms, including 12 patients having abnormality of peripheral nerve conduction velocity. There were significant differences between them (χ 2=8.275, P =0.04). ② Among 128 patients, illness course of 75 patients was equal to or less than 5 years, including 27 patients having abnormality of peripheral nerve conduction velocity; illness course of 53 patients was more than 5 years, including 35 patients having abnormality of peripheral nerve conduction velocity. There were significant differences between them (χ 2=11.469, P =0.003). ③ Among 128 patients, levels of fasting blood glucose of 75 patients was equal to or lower than 11 mmol/L, including 41 patients having abnormality of peripheral nerve conduction velocity; levels of fasting blood glucose of 53 patients was higher than 11 mmol/L, including 38 patients having abnormality of peripheral nerve conduction velocity. There were significant differences between them (χ 2=4.023, P =0.134). CONCLUSION: ① Abnormality of peripheral nerve conduction velocity of patients with type 2 diabetes mellitus is related to illness courses and clinical symptoms. The longer the illness course is, the severer the abnormality of peripheral nerve conduction velocity is. Abnormality of peripheral nerve conduction velocity always occurs on patients who have clinical symptoms. ② Abnormality of peripheral nerve conduction velocity is not related to levels of fasting blood glucose.

Abnormality of the monsoon wind in the sea area along the southeasterncoast of China and the response of the northern areaof the South China Sea during the ENSO events

-Variations of monsoon wind field in the sea area along the southeastern coast of China during the ENSO events and its influence on the sea level and sea surface temperature (SST) are explored mainly on the basis of the data of monthly mean wind at 850 hPa and five coastal stations during 1973-1987. The results from the analyses of the data and theoretical estimation show that the southwest wind anomalies appeared in the study area during the events, and northeast wind anomalies occurred in general before the events. With the coastline of the area being parallel basically to the direction of the wind, an Ekman transport will result in an accumulation of the water near the coast or a departure of the water from the coast. As a result , the sea level and SST there will be affected markedly. During the events, southwest wind will intensify in the summer, and northeast wind will weaken in the winter. Their total effect is that a large negative anomaly of the sea level and SST will occur. The estimations indicate that the monsoon wind is stronger in the summer and weaker in the winter than the normal by 1-1. 5 m/s during the events, and this anomaly will cause a decrease of the sea level by 7-11 cm . Changes of the wind field, therefore, is mainly responsible for a large negative anomalies of the sea level and SST there during the ENSO events.

Abnormality of thermal structure and current in the upper western tropical Pacific Ocean and its effect on subtropical high

-Mainly on the basis of the data obtained during PRC/US bilateral TOGA cruises, abnormal variation occurred during the 1986/1987 El Nino is shown in this paper about the thermal structure and circulation of the upper western tropical Pacific Ocean. The effects of the abmormal variation on the subtropical high over the Northwest Pacific Ocean are discussed. During the El Nino: (1) In the east part of the western tropical Pacific Ocean (the subsurface temperature data on the 165° E section are taken as an example), the water wanner than 29 C in the upper layer spread on the longitudinal section and positive temperature anormalies appeared in a large area of the sea surface. (2) In the west part of the western tropical Pacific Ocean (the subsurface temperature data on the 137°E section are representative ), the cross section occupied by the upper layer warmer water ( T >28 ℃ ) became shrunk, and the sea surface temperature showed negative amomalies. (3) The eastward flows in the upper layer of the 165°E section strengthened. (4)The northward flow volume of warm water from the origin area of Kuroshio, i. e. , the tropical oceanic area south of 18?0' N and from the west of 130?E to the Philippine coast, decreased. When those kinds of abnomal variation occurred, air divergence on the low level (1 000 hPa) over the Northwest Pacific Ocean was intensified, favourable to the strengthening of subtropical high over the Northwest Pacific Ocean.

High Expression of hsMAD2 in the Villi of Spontaneously Aborted Embryo with Chromosomal Abnormality

Objective: To investigate the changes of hsMAD2 protein and gene expression levels during chromosome segregation of human embryos. Method: The embryos of spontaneous abortion were collected in our hospital from 2009 to 2013, the chromosomal numbers of the embryonic villi were subsequently detected by fluorescence in situ hybridization (FISH). The patients were then divided into the normal and abnormal groups based on the chromosome number. The hsMAD2 protein and gene expression levels in the villi tissues of the two embryo groups were detected by western blotting and qRT-PCR, respectively. The hsMAD2 protein and gene levels in the embryonic villus tissue of the patient were detected. Results: From 2009 to 2013, we collected 50 embryos from spontaneous abortion patients. The chromosome abnormality and no abnormality were 36 cases (abnormal number of 28 cases (56.0%) and chimerism in 8 cases (16.0%)) and 14 cases (28.0%), respectively. The expression of hsmad2 protein and its gene in the villi of spontaneously aborted embryo with chromosomal abnormality in the abnormal group was significantly higher than that in those without chromosomal abnormalities (0.88 ± 0.20 vs 0.61 ± 0.19, P < 0.05), (23.46 ± 0.07 vs 18.35 ± 0.10, P < 0.05). Conclusion: Abnormal number of chromosomes is closely related to spontaneous abortion Linked, hsMAD2 factor has a card effect on the cell cycle, can block the mitotic process of cells, and play an important role in maintaining the normal separation and stability of chromosomes.

Compassionate Use of Midostaurin in Myeloid and Lymphoid Neoplasia with FGFR1 Abnormality

Background: Patients with stem cell myeloproliferative disorders have a particularly poor prognosis and limited treatment options, i.e. mainly aggressive chemotherapy or allogeneic stem cell transplantation. In 2004, Chen et al. reported a patient presenting a t(8;13) (p11;q12) cytogenic anomaly who responded positively to treatment with PKC412 (midostaurin), an oral multi-targeted tyrosine kinase inhibitor. Here, we report a second case treated with the above-mentioned drug. Patient: A 71-year-old woman was diagnosed as having chronic myelogenous leukaemia with eosinophilia secondary to t(8;13) with FGFR1 involvement. Due to her age, an allogeneic stem cell transplantation was not possible. Treatment: A treatment combining aggressive chemotherapy and midostaurin was explored. The patient received one cycle of hyper-CVAD chemotherapy followed by maintenance therapy with midostaurin. A relapse occurred after six months, and she was treated with four more cycles of hyper-CVAD chemotherapy. The patient entered a complete clinical, haematological and cytogenetic remission. A maintenance therapy with midostaurin continued for four months until she developed a chemoresistant relapse followed by acute leukaemia. Conclusion: This is the second case of a t(8;13) myeloid and lymphoid neoplasm with FGFR1 abnormalities treated successfully with midostaurin. Midostaurin is administered orally, allows for outpatient care and in this case showed only occasional and minimal side effects. The combination of hyper-CVAD and midostaurin extended survival by 21 months without allogeneic transplantation. This case further supports the possibility of using midostaurin for the treatment of other diseases with FGFR1 dysregulations;however, specific clinical trials are needed to confirm this hypothesis.