Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome.

Background: Bone morphogenetic protein receptor type 1A (BMPR1A) is responsible for two individual Mendelian diseases: juvenile polyposis syndrome and hereditary mixed polyposis syndrome 2, which have overlapping phenotypes. This study aimed to elucidate whether these two syndromes are just two subtypes of a single syndrome rather than two isolated syndromes. Methods: We sequenced the BMPR1A gene in 186 patients with polyposis and colorectal cancer, and evaluated the clinicopathological features and phenotypes of the probands and their available relatives with BMPR1A mutations. Results: BMPR1A germline mutations were found in six probands and their three available relatives. The numbers of frameshift, nonsense, splice-site, and missense mutations were one, one, two, and two, respectively; two of the six mutations were novel. Typical juvenile polyps were found in only three patients. Two patients had colorectal cancer rather than any polyps. Conclusions: Diseases in BMPR1A germline mutation carriers vary from mixed polyposis to sole colorectal cancer, and typical juvenile polyps do not always occur in these carriers. The variety of phenotypes reflected the features of BMPR1A-mutation carriers, which should be recognized as a spectrum of one syndrome. Genetic testing may be a good approach to identifying BMPR1A-related syndromes.

Burkitt-like lymphoma with 11q aberration confirmed by needle biopsy of the liver: A case report.

BACKGROUND: Burkitt-like lymphoma with 11q aberration (BLL-11q) is a rare provisional lymphoma, and the majority of cases are usually diagnosed by excisional lymph node biopsy. Here we report a case of BLL-11q diagnosed by needle biopsy of the liver in order to improve further understanding of the disease, reduce misdiagnosis, and identify treatment regimens. CASE SUMMARY: The patient was a 67-year-old male. He complained of increased frequency of stools for more than one year, periumbilical pain and discomfort exceeding 3 mo. A computed tomography scan suggested an appendiceal malignant tumor with multiple metastases of the peritoneum, omentum, and liver. Needle biopsy of liver nodules showed that the tumor cells were of median size, the shape was consistent, a small number of tumor cells were large, the "starry sky" pattern was evident, and some tissue cells showed multiple apoptotic debris with coarse particles. Immunohistochemistry was positive for CD20, CD10, BCL6, and MYC. The Ki-67 proliferation index was more than 95%. Molecular biological detection indicated a lack of MYC, BCL2 and BCL6 gene rearrangement with 11q aberration. Therefore, the diagnosis was BLL-11q of the liver. After eight courses of chemotherapy, the abdominal and pelvic peritoneal masses and liver nodules had almost disappeared. The patient recovered well after a follow-up period of more than 13 mo. CONCLUSION: BLL-11q is rare, but patients treated with standard chemotherapy for Burkitt lymphoma can have a good prognosis. Reducing the dose of chemotherapy or developing specific therapies to prevent overtreatment may be considered, but more case studies are needed.

Insight into the correlation between microbial diversity and flavor profiles of traditional dry-cured duck from the metabolomic perspective.

The purpose of this work was to reveal the relationship between the microbial diversity and flavor profiles of traditional dry-cured duck from a metabolomic perspective. Enterococcus, Psychrobacter, Macrococcus, Salinivbrio, and Staphylococcus were the dominant bacterial genera, while Trichophyton, Kurtzmaniella, Blumeria, Cladosporium, Lysurus, Aspergillus, Starmerella and Debaryomyces were the dominant fungal genera of dry-cured duck. The results showed that aldehydes, alcohols, furan, and ketone compounds were the main volatile flavor compounds of dry-cured duck. Moreover, the identified metabolites of dry-cured duck were classified and included amino acids, amines, polypeptides, amino acid derivatives, polyols, fatty acids, organic acids, flavonoids and isoflavones. Heatmap analysis was used to illuminate the relationships between the microbial diversity and flavor profiles, as well as metabolites. These results will provide an effective theoretical reference for the standardization and modernization of dry-cured duck production.

Quantum Energy Current Induced Coherence in a Spin Chain under Non-Markovian Environments.

We investigate the time-dependent behaviour of the energy current between a quantum spin chain and its surrounding non-Markovian and finite temperature baths, together with its relationship to the coherence dynamics of the system. To be specific, both the system and the baths are assumed to be initially in thermal equilibrium at temperature Ts and Tb, respectively. This model plays a fundamental role in study of quantum system evolution towards thermal equilibrium in an open system. The non-Markovian quantum state diffusion (NMQSD) equation approach is used to calculate the dynamics of the spin chain. The effects of non-Markovianity, temperature difference and system-bath interaction strength on the energy current and the corresponding coherence in cold and warm baths are analyzed, respectively. We show that the strong non-Markovianity, weak system-bath interaction and low temperature difference will help to maintain the system coherence and correspond to a weaker energy current. Interestingly, the warm baths destroy the coherence while the cold baths help to build coherence. Furthermore, the effects of the Dzyaloshinskii-Moriya (DM) interaction and the external magnetic field on the energy current and coherence are analyzed. Both energy current and coherence will change due to the increase of the system energy induced by the DM interaction and magnetic field. Significantly, the minimal coherence corresponds to the critical magnetic field which causes the first order phase transition.

Oligopeptides from Jinhua ham prevent alcohol-induced liver damage by regulating intestinal homeostasis and oxidative stress in mice.

The current study aimed to evaluate the protective activity of peptides isolated from Jinhua ham (JHP) against alcoholic liver disease (ALD) and the mechanisms by which JHP prevents against ALD. The tangential flow filtration (TFF) combined with size exclusion chromatography (SEC) and reversed-phase high performance liquid chromatography (RP-HPLC) were used to isolate the JHP. Then the hepatoprotective activity of peptides was evaluated through experiments in mice. The primary structure of the peptide with the strongest liver protective activity was Lys-Arg-Gln-Lys-Tyr-Asp (KRQKYD) and the peptide was derived from the myosin of Jinhua ham, which were both identified by LC-MS/MS. Furthermore, the mechanism of KRQKYD prevention against ALD was attributed to the fact that KRQKYD increases the abundance of Akkermansia muciniphila in the gut and decreases the abundance of Proteobacteria (especially Escherichia_Shigella). The LPS-mediated liver inflammatory cascade was reduced by protecting the intestinal barrier, increasing the tight connection of intestinal epithelial cells and reducing the level of LPS in the portal venous circulation. KRQKYD could inhibit the production of ROS by upregulating the expression of the NRF2/HO-1 antioxidant defense system and by reducing oxidative stress injury in liver cells. This study can provide a theoretical foundation for the application of JHP in the protection of liver from ALD.

Isolation and identification of bioactive peptides from Xuanwei ham that rescue oxidative stress damage induced by alcohol in HHL-5 hepatocytes.

Peptides extracted from Xuanwei ham (XHP) can prevent free radical-induced diseases. The aim of the present study was to isolate and identify bioactive peptides from Xuanwei hams that rescue the oxidative stress damage induced by alcohol in HHL-5 hepatocytes. Alcohol-treated HHL-5 human hepatocytes were utilized as the alcohol-induced hepatocyte damage model to evaluate the effects of XHP on amounts of aminotransferase (ALT), aspartate aminotransferase (AST) and malondialdehyde (MDA). The result showed that XHP could significantly reduce ALT, AST and MDA, the major biomarkers of liver damage. The crude XHP was separated by size exclusion chromatography, followed by the evaluation of respective activities. Then, the most active components were further separated by RP-HPLC, and their activities were evaluated according to the above method. The peptide was identified as a hexapeptide with the sequence of Asn-Pro-Pro-Lys-Phe-Asp (NPPKFD) through LC-MS/MS. Further, the molecular mechanisms by which NPPKFD prevents alcohol-induced oxidative stress damage were revealed. Results showed that the hexapeptide could downregulate CYP2E1 expression, reduce generation of ROS and enhance oxidant defense systems via the activation of NrF2/HO-1 pathway. The findings suggest that Xuanwei ham can be used as a new source of bioactive peptides for protection from alcohol-induced liver damage.

Clinical features and treatment of 7 Chinese TAFRO syndromes from 96 de novo Castleman diseases: a 10-year retrospective study.

BACKGROUND: Castleman disease (CD) is a rare polyclonal lymphoproliferative disorder with unknown etiology. TAFRO syndrome is now regarded as a specific subtype of CD, and is still a huge challenge for clinicians. METHODS: To clarify the clinical features and management of TAFRO syndrome in China, we retrospectively analyzed 96 patients with HIV-negative CD (52 with unicentric CD and 44 with multicentric CD), who were diagnosed and treated at our center between 2008 and 2017. Specially, we systematically reviewed the 7 TAFRO syndrome cases based on the 2015 criteria proposed by Masaki. RESULTS: Among the 7 cases, there were 3 men and 4 women, and the median age was 53 years. The main symptoms included thrombocytopenia (7/7), anasarca (7/7), fever (4/7), renal dysfunction (7/7), and organomegaly (6/7). One patient was treated with corticosteroid monotherapy, one received RD (Rituximab, dexamethasone), and 5 received CHOP/COP like chemotherapy as first-line treatment, 2 of the 5 combined with Rituximab. Four patients needed hemodialysis or CRRT because of progressive renal failure. The outcome for TAFRO syndrome was significantly worse compared to other types of CD. Although 3 patients improved after early treatment, 4 patients died due to disease progression, and only one patient achieved complete resolution of all the symptoms after changing to lenalidomide based regimen. CONCLUSIONS: This study reveals that TAFRO syndrome is more severe and has more systemic symptoms than other iMCD, most cases need active treatment, and their prognoses are poor. Lenalidomide based regimen may be as a promising new therapy for TAFRO syndrome.

Effect of oceanic turbulence on the visibility of underwater ghost imaging.

We carry out a detailed study on underwater ghost imaging (GI) in oceanic turbulence. We set up a physical model of GI through oceanic turbulence, which includes light-field transmission, and interaction between light field and oceanic turbulence without considering the effects of water absorption and scattering of light. We obtain theoretical expressions for the impulse response function and the visibility of GI in oceanic turbulence based on the power spectrum of the turbulence and the extended Huygens-Fresnel integral. The results show that the quality of GI under the effects of oceanic turbulence is related to the intensity of turbulence and the propagation distance of light. The quality of GI could be maintained at a relatively small distance in strong oceanic turbulence, whereas the quality is degraded dramatically at a relatively long distance in strong oceanic turbulence. We further analyze the quality of GI under various turbulence conditions and over different propagation distances by numerical calculation. Our results provide guidance for the realization of adaptive underwater optical GI over different length scales under the effect of oceanic turbulence.

Quantum speed limit and a signal of quantum criticality.

We study the quantum speed limit time (QSLT) of a coupled system consisting of a central spin and its surrounding environment, and the environment is described by a general XY spin-chain model. For initial pure state, we find that the local anomalous enhancement of the QSLT occurs near the critical point. In addition, we investigate the QSLT for arbitrary time-evolution state in the whole dynamics process and find that the QSLT will decay monotonously and rapidly at a large size of environment near the quantum critical point. These anomalous behaviors in the critical vicinity of XY spin-chain environment can be used to indicate the quantum phase transition point. Especially for the XX spin-chain environment, we find that the QSLT displays a sudden transition from discontinuous segmented values to a steady value at the critical point. In this case, the non-Makovianity and the Loschmidt echo are incapable of signaling the critical value of the transverse field, while the QSLT can still witness the quantum phase transition. So, the QSLT provides a further insight and sharper identification of quantum criticality.

Desmoplastic small-round-cell tumor of the abdomen: A report of two rare cases.

Desmoplastic small-round-cell tumor (DSRCT) is an uncommon type of malignancy, which primarily occurs in adolescent males and develops in the abdominal cavity. The present study reports the case of two manifestations of DSRCT complicated with other diseases, which involved the invasion of the pelvis or abdominal vessels. The first case was of a 25-year-old man with repeated diarrhea and abdominal distension for 9 months; the second case was of a 68-year-old man who presented with persistent abdominal pain for 20 days. In each patient, a mass was identified in the abdomen and biopsies were performed in order to reach a diagnosis. Immunohistochemical staining of the biopsy material revealed a diagnosis of DSRCT in each case. In addition, the present study aimed to discuss the use of imaging techniques in providing evidence for the early diagnosis of DSRCT.

Gd-EOB-DTPA-enhanced magnetic resonance imaging for bile duct intraductal papillary mucinous neoplasms.

AIM: To investigate gadolinium-ethoxybenzyl-diethylenetriamine-pentaacetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) of intraductal papillary mucinous neoplasms of the bile duct (IPMN-B). METHODS: The imaging findings of five cases of IPMN-B which were pathologically confirmed at our hospital between March 2012 and May 2013 were retrospectively analyzed. Three of these cases were diagnosed by duodenal endoscopy and biopsy pathology, and two cases were diagnosed by surgical pathology. All five patients underwent enhanced and non-enhanced computed tomography (CT), magnetic resonance cholangiopancreatography, and Gd-EOB-DTPA-enhanced MRI; one case underwent both Gd-EOB-DTPA-enhanced MRI and positron emission tomography-CT. The clinical data and imaging results for these cases were compared and are presented. RESULTS: Conventional imaging showed diffuse dilatation of bile ducts and multiple intraductal polypoid and papillary neoplasms or serrated changes along the bile ducts. In two cases, Gd-EOB-DTPA-enhanced MRI revealed dilated biliary ducts and intraductal tumors, as well as filling defects caused by mucin in the dilated bile ducts in the hepatobiliary phase. Gd-EOB-DTPA-enhanced MRI in one case clearly showed a low-signal tumor in the hepatobiliary phase, similar to what was seen by positron emission tomography-CT. In two patients, routine inspection was unable to discern whether the lesions were inflammation or tumors. However, Gd-EOB-DTPA-enhanced MRI revealed a pattern of gradual enhancement during the hepatobiliary phase, and the signal intensity of the lesions was lower than the surrounding liver parenchyma, suggesting tissue inflammation in both cases, which were confirmed by surgical pathology. CONCLUSION: Gd-EOB-DTPA-enhanced MRI reveals the intraductal mucin component of IPMN-B in some cases and the extent of tumor infiltration beyond the bile ducts in invasive cases.

Nonperturbative leakage elimination operators and control of a three-level system.

Dynamical decoupling operations have been shown to reduce errors in quantum information processing. Leakage from an encoded subspace to the rest of the system space is a particularly serious problem for which leakage elimination operators (LEOs) were introduced. Here we provide an analysis of nonideal pulses, rather than the well-understood idealization or bang-bang controls. Under realistic conditions, we show that these controls will provide the same protection from errors as idealized controls. Our work indicates that the effectiveness of LEOs depends on the integral of the pulse sequence in the time domain, which has been missing because of the idealization of pulse sequences. Our results are applied to a three-level system for the nitrogen-vacancy centers under an external magnetic field and are illustrated by the fidelity dynamics of LEO sequences, ranging from regular rectangular pulses, random pulses, and even disordered (noisy) pulses.

Fault-tolerant almost exact state transmission.

We show that a category of one-dimensional XY-type models may enable high-fidelity quantum state transmissions, regardless of details of coupling configurations. This observation leads to a fault-tolerant design of a state transmission setup. The setup is fault-tolerant, with specified thresholds, against engineering failures of coupling configurations, fabrication imperfections or defects, and even time-dependent noises. We propose an experimental implementation of the fault-tolerant scheme using hard-core bosons in one-dimensional optical lattices.

Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population.

The DNA repair pathways help to maintain genomic integrity and therefore genetic variation in the pathways could affect the propensity to develop cancer. Selected germline single nucleotide polymorphisms (SNPs) in the pathways have been associated with esophageal cancer and gastric cancer (GC) but few studies have comprehensively examined the pathway genes. We aimed to investigate associations between DNA repair pathway genes and risk of esophageal squamous cell carcinoma (ESCC) and GC, using data from a genome-wide association study in a Han Chinese population where ESCC and GC are the predominant cancers. In sum, 1942 ESCC cases, 1758 GC cases and 2111 controls from the Shanxi Upper Gastrointestinal Cancer Genetics Project (discovery set) and the Linxian Nutrition Intervention Trials (replication set) were genotyped for 1675 SNPs in 170 DNA repair-related genes. Logistic regression models were applied to evaluate SNP-level associations. Gene- and pathway-level associations were determined using the resampling-based adaptive rank-truncated product approach. The DNA repair pathways overall were significantly associated with risk of ESCC (P = 6.37 × 10(-4)), but not with GC (P = 0.20). The most significant gene in ESCC was CHEK2 (P = 2.00 × 10(-6)) and in GC was CLK2 (P = 3.02 × 10(-4)). We observed several other genes significantly associated with either ESCC (SMUG1, TDG, TP53, GTF2H3, FEN1, POLQ, HEL308, RAD54B, MPG, FANCE and BRCA1) or GC risk (MRE11A, RAD54L and POLE) (P < 0.05). We provide evidence for an association between specific genes in the DNA repair pathways and the risk of ESCC and GC. Further studies are warranted to validate these associations and to investigate underlying mechanisms.

[Correlating landscape pattern with total nitrogen concentration using a location-weighted sink-source landscape index in the Haihe River Basin, China].

Understanding the effect of land cover pattern on nutrient losses is of great importance in management of water resources. The extensive application of mechanism models is limited in large-scale watersheds owing to the intensive data and calibration requirements. On the other hand, the traditional landscape indexes only take the areas and types of land cover into account, considering less about their topographic features and spatial patterns. We constructed a location-weighted landscape index (LWLI) based on the Lorenz curve, which plots the cumulative proportion of areas for sink and source landscapes respectively against cumulative proportion of their relative location to the outlet in a watershed, including relative elevation, distance and slope. We assessed the effect of land cover pattern on total nitrogen losses in the Haihe River. Firstly, 26 watersheds were derived from 1: 250 000 digital elevation model (DEM), and their "source" and "sink" landscape types were identified from Landsat TM images in 2007. The source" landscapes referred to the paddy land, dry land and residential area, correspondingly the "sink" landscapes referred to the forest and grassland. Secondly, LWLI was calculated according to the landscape types and spatial patterns for each watershed. Thirdly, we accessed the effect of land cover pattern on total nitrogen (TN) flux according to the value of LWLI, comparing with the area proportion of sink-source landscapes. The correlation coefficients were different in three parts of Haihe River, i. e., 0.86, 0.67 and 0.65 in the Yanshan Mts, Taihang Mts and lower Haihe River. The results showed strong correlations between TN and LWLI in contrast to the weak correlations between TN and area proportion of sink and source landscape types. This study indicates the spatial pattern of land cover is essential for accessing the nutrient losses, and the location-weighted landscape pattern analysis may be an alternate to existing water quality models, especially in large watershed scales. The sink-source index is sufficiently simple that it can be compared across watersheds and be easily interpreted, and potentially be used in landscape pattern optimal designing and planning.

[Assessment of heavy metal pollution in surface sediments of rivers in northern area of Haihe River Basin, China].

Using Håkanson potential ecological risk index, the paper assesses heavy metal risk levels in northern parts of Haihe River basin based on 39 sampling sites. The results indicate that, the concentrations of Cu, Zn, Cd, and Cr in Haihe River basin are higher than the background values of heavy metals in China mainland, while the concentration of Pb is close to the background value in China mainland. Based on the potential ecological risk index for single heavy metal, the risk of Cu, Pb, Zn and Cr belongs to the "slight" level, while Cd has various risk levels at different sampling sites. Generally, the risk order of the heavy metals is Cd > Pb > Cu > Cr > Zn. According to Håkanson potential ecological risk index, 32 monitoring sites belong to "slight" level, 5 sampling sites belong to "middle" level, and 2 monitoring sites belong to "very strong" level. The most polluted sites are Tang River and Dashi River of Beijing, Juma River in Baoding. Therefore, these rivers should be taken more considerations in the river management.

Diffuse liver infiltration by melanoma of unknown primary origin: one case report and literature review.

Diffuse liver infiltration by melanoma of unknown primary origin is rare. We encountered a unique case of diffuse liver infiltration by melanoma of unknown primary origin in our hospital. A 62-year-old woman was referred to our hospital for anorexia of 6 months duration and abdominal distension for 1 month. Ultrasonography (US), computerized tomography (CT) and magnetic resonance imaging (MRI) revealed an obvious enlarged liver without detectable nodules. She was diagnosed as liver metastasis by melanoma of unknown primary origin via percutaneous liver biopsy. The report demonstrates the difficulty of making a noninvasive diagnosis of diffuse hepatic infiltration on metastatic melanoma.

[Clinicopathologic analysis of mixed epithelial and stromal tumor of kidney and adult cystic nephroma].

OBJECTIVE: To study the clinicopathologic features, immunophenotype and differential diagnosis of mixed epithelial and stromal tumor of kidney (MEST) and adult cystic nephroma (CN). METHODS: Five cases of MEST and 4 cases of CN were retrospectively analyzed. Immunohistochemical study was carried out and the literature was reviewed. RESULTS: All of the five patients with MEST were females. Their median age was 45 years. For CN, there were 3 males and 1 female and their median age was 41 years. All patients presented with loin pain and hematuria. On gross examination, MEST was well-circumscribed but non-encapsulated. There was no evidence of haemorrhage or necrosis. Three of the cases were solid in nature. One was composed of a mixture of solid and cystic elements, while the remaining case showed a multicystic cut surface bridged by thick fibrous septa. On the other hand, CN were well-circumscribed and encapsulated. They were multiloculated cystic in nature. The cystic spaces were separated by thin septa and there was no significant solid or necrotic component. Histologically, MEST consisted of proliferation of cystically dilated glands admixed with spindly stromal cells with various cellularity and growth patterns. Both the glandular and stromal elements were well-differentiated with no cytologic atypia identified. The glandular structures in 2 of the cases were partially lined by endometrial or tubal epithelium. In contrast, the thin-walled cystic spaces in CN were lined by a single layer of epithelium.Immunohistochemical study showed that the epithelial cells were positive for pan-cytokeratin and epithelial membrane antigen. The spindle cells in MEST expressed vimentin (5/5), smooth muscle actin (3/5), desmin (4/5), CD10 (5/5), estrogen receptor (4/5) and progesterone receptor (4/5). They were negative for HMB45, CD34, CD117 and S-100 protein. On the other hand, the spindle cells in CN were variably positive for vimentin (4/4), smooth muscle actin (4/4), desmin (1/4), estrogen receptor (3/4) and progesterone receptor (1/4). They were negative for CD10, HMB45, CD34, CD117 and S-100 protein. CONCLUSIONS: Both MEST and CN are uncommon renal neoplasm. Most of them run a benign clinical course. The stromal cells in MEST show smooth muscle or myofibroblastic differentiation. Areas demonstrating Müllerian features also existed in some cases. MEST and CN share overlapping histological and immunohistochemical features, and may represent spectrum of the same group of lesions.

[Inflammatory myofibroblastic tumor of bladder: a clinicopathologic study of five cases].

OBJECTIVE: To study the clinicopathologic features, diagnosis and differential diagnosis of inflammatory myofibroblastic tumor of the urinary bladder. METHODS: Excisional specimens from 5 cases of vesical inflammatory myofibroblastic tumor were studied by light microscopy and immunohistochemistry (EnVision). The clinical data were also analyzed. RESULTS: Among the 5 patients studied, 3 were males and 2 were females. The age of the patients ranged from 10 to 53 years (mean age = 35 years). The most common clinical presentation was micturition pain and hematuria. Three cases were located at the dome of the urinary bladder and the remaining 2 cases were found in the left lateral wall. Histologically, the tumor varied from myxoid to highly cellular. The tumor cells were spindle to stellate in shape, widely separated or showed a compact fascicular pattern. There were often associated with mixed inflammatory infiltrates and an irregular meshwork of small dilated vessels. Immunohistochemical study showed that the tumor cells expressed AE1/AE3 (5/5), vimentin (5/5), smooth muscle actin (5/5), calponin (5/5), caldesmon (3/5), desmin (4/5) and anaplastic lymphoma kinase protein (4/5). Follow-up data were available in 4 patients and none had local recurrence or died of this disease. CONCLUSION: Inflammatory myofibroblastic tumour of urinary bladder is a rarely encountered but distinctive neoplasm with intermediate malignant potential.