[Analysis of cases of cervical cystic lymph node metastasis with an unknown primary misdiagnosed as branchial cleft carcinoma].

Objectives: To analyze the location, discovery time and possible causes of cases of cervical cystic lymph node metastasis with an unknown primary misdiagnosed as branchial cleft carcinoma. Methods: A retrospective analysis was performed on clinical and pathological data of 15 patients misdiagnosed as branchiogenic carcinoma at Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College between January 2000 and December 2020. Results: Among the 15 patients, 6 were nasopharyngeal squamous cell carcinoma, 4 tonsil squamous cell carcinoma, 2 tongue root squamous cell carcinoma, 2 hypopharyngeal squamous cell carcinoma and 1 thyroid papillary carcinoma. The median time from the diagnosis of branchial cleft carcinoma to the discovery of primary lesions was 3.58 months (0-76 months). The causes of misdiagnosis might be the lack of experience in the diagnosis and treatment of branchial cleft carcinoma, and not enough attention to comprehensive examination and close follow-up. Conclusions: Different from oropharyngeal cancer reported internationally, the proportion of misdiagnosed cases with nasopharyngeal carcinoma as the primary site in the current article is higher. As a country with a high incidence of nasopharyngeal carcinoma, the examination of nasopharynx should not be taken lightly. Most hidden cases can be found in the comprehensive examination in a short time, while a few cases need long-term follow-up. Finding the primary sites should not rely too much on imaging examination, and we cannot ignore the importance of clinical physical examination.

[Spatio-temporal distribution characteristics of soil-transmitted nematodiasis in Sichuan Province from 2016 to 2021].

OBJECTIVE: To investigate the trends in the prevalence of soil-transmitted nematode infections and the spatio-temporal distribution characteristics of soil-transmitted nematodiasis in Sichuan Province from 2016 to 2021, so as to provide the evidence for formulating the soil-transmitted nematodiasis elimination strategy in Sichuan Province. METHODS: The soil-transmitted nematodiasis surveillance data in Sichuan Province from 2016 to 2021 were collected, and the epidemic trend of soil-transmitted nematode infections was identified. The distribution maps of soil-transmitted nematode infections in Sichuan Province were plotted to identify their spatial distribution characteristics. In addition, the spatial clusters of soil-transmitted nematode infections were detected using globa and local spatial autocorrelation analyses. RESULTS: The prevalence of soil-transmitted nematode infections appeared a decline with time in Sichuan Province from 2016 to 2021 (χ2= 400.24, P < 0.01). Global spatial autocorrelation analysis identified positive spatial autocorrelations in the prevalence of soil-transmitted nematode infections (Moran's I = 0.322, Z = 16.293, P < 0.01), hookworm infections (Moran's I = 0.425, Z = 21.290, P < 0.01), Ascaris lumbricoides infections (Moran's I = 0.102, Z = 5.782, P < 0.01) and Trichuris trichiura infections (Moran's I = 0.084, Z = 6.873, P < 0.01). Local spatial autocorrelation analysis showed that the high-high clusters of soil-transmitted nematode infections were mainly located in 37 counties (cities, districts) of Sichuan Province, and the high-high clusters of hookworm, A. lumbricoides and T. trichiura infections were mainly identified in 39 counties (cities, districts) in mountainous areas around Sichuan Basin and hilly areas, 9 counties (cities, districts) in mountainous areas in southwestern Sichuan Province, and 8 counties (cities, districts) in mountainous areas in southwestern Sichuan Province, respectively. CONCLUSIONS: The prevalence of soil-transmitted nematode infections appeared a tendency towards a decline in Sichuan Province from 2016 to 2021, which showed spatial clusters. The management of soil-transmitted nematodiasis requires to be reinforced in high-risk areas of Sichuan Province with adaptations to local epidemiological features.

[Long-term outcomes and failure patterns of definitive radiotherapy for cervical esophageal carcinoma].

Objective: To evaluate the long-term outcomes, failure patterns and prognostic factors of definitive radiotherapy in patients with cervical esophageal carcinoma (CEC). Methods: We retrospectively reviewed the clinical data of 148 CEC patients who treated with definitive radiotherapy in Cancer Hospital of Chinese Academy of Medical Sciences from January 2001 to December 2017. The median radiation dose was 66 Gy (59.4-70 Gy) and 33.1% of patients received concurrent chemotherapy. The Kaplan-Meier method was used to calculate survival rates. The log rank test was used for survival comparison and univariate prognostic analysis. The Cox model was used for multivariate prognostic analysis. Results: The median follow-up time was 102.6 months. The median survival time, 2- and 5-year overall survival (OS) were 22.7 months, 49.9% and 28.3%. The median, 2- and 5-year progression-free survival were 12.6 months, 35.8% and 25.8%. The 2- and 5-year locoregional recurrence-free survival were 59.1% and 50.8%. The 2- and 5-year distant metastases-free survival were 74.6% and 65.9%. Multivariate analysis showed that EQD(2)>66 Gy was the only independent prognostic indicator for OS (P=0.040). The median survival time and 5-year OS rate significantly improved in patients who received EQD(2)>66 Gy than those who received≤66 Gy (31.2 months vs. 19.2 months, 40.1% vs. 19.1%, P=0.027). A total of 87 patients (58.8%) developed tumor progression. There were 50 (33.8%), 23 (15.5%) and 39 (26.4%) patients developed local, regional recurrence and distant metastases, respectively. Eleven patients (7.4%) underwent salvage surgery, and the laryngeal preservation rate for entire group was 93.9%. Conclusions: Definitive radiotherapy is an effective treatment for cervical esophageal carcinoma with the advantage of larynx preservation. Local recurrence is the major failure pattern. EQD(2)>66 Gy is associated with the improved overall survival.

[Effect of phacoemulsification on the Berger space].

Objective: To investigate the effect of phacoemulsification on the Berger space (BS). Methods: A prospective cohort study. Patients with cataract who underwent phacoemulsification and intraocular lens implantation in the Department of Ophthalmology, Affiliated Hospital of Nantong University from May 2021 to October 2021 were enrolled. The BS was observed by slit-lamp microscopy and anterior segment optical coherence tomography (AS-OCT) before and 1 month after operation. Intraoperative optical coherence tomography with a 25G optical fiber was performed to observe the BS. The number of eyes with the BS and materials in the BS (MIB) detected perioperatively was counted, and the width of the BS was measured. Statistical analysis was carried out by the Chi-square test, generalized estimating equations, Mann-Whitney U test and binary logistic regression analysis. Results: A total of 119 patients (119 eyes) were included [44 males, 75 females; mean age, (65±12) years]. Preoperatively, the BS was identified in only 4 eyes (3.4%), and no MIB was found. Intraoperatively, the BS was identified in 47 eyes (39.5%), and the MIB was observed in 20 eyes (16.8%). At one month postoperatively, the BS was identified in 33 eyes (27.7%), of which 16 eyes (13.4%) still had MIB. There were significant differences in the detection rates of the BS and MIB between intraoperative and preoperative groups (both P<0.001). The difference in the detection rate of the BS postoperatively compared to intraoperatively was statistically significant (P=0.001), while the difference in the detection rate of MIB was not statistically significant (P>0.05). The intraoperative and postoperative width of the BS [M (Q1, Q3)] was 160.3 (61.6, 273.1) µm and 106.8 (0, 259.4) µm, respectively, and the difference was statistically significant (Z=-2.28, P=0.023). In addition, the detection rate of the BS and MIB in patients with a high risk of zonular fiber weakness [60.7% (17/28) and 42.9% (12/28)] was significantly higher than that in patients without this risk factor [33.0% (30/91) and 8.8% (8/91)] (χ²=6.90, P=0.009; P<0.001). In the multivariable model, weakness of zonular fibers (OR=0.214, 95%CI: 0.081 to 0.561) and higher cumulative dissipated energy (OR=1.255, 95%CI: 1.047 to 1.504) were the main risk factors for structural changes of the BS intraoperatively. Conclusion: Phacoemulsification can damage the normal anatomical structure of the BS, resulting in intraoperative entrance of fluid and particulates to the BS.

[Treatment and prognosis analysis of perineural invasion on sinonasal adenoid cystic carcinoma].

Objective: To analyze the efficacy of sinonasal adenoid cystic carcinoma (ACC) with perineural invasion (PNI), and explore the prognostic value of PNI on sinonasal adenoid cystic carcinoma. Methods: The clinical data of 105 patients with sinonasal ACC admitted to Cancer Hospital, Chinese Academy of Medical Sciences from January 2000 to December 2016 were retrospectively reviewed. All patients were restaged according to American Joint Committee on Cancer 8th edition. Follow-up visits were conducted to obtain information of treatment failure and survival outcome. The Log rank test was used for univariate analysis of prognostic factors, and Cox regression model was used for multivariate prognostic analysis. Results: The maxillary sinus (n=59) was the most common primary site, followed by the nasal cavity (n=38). There were 93 patients with stage Ⅲ-Ⅳ. The treatment modalities included surgery alone (n=14), radiotherapy alone (n=13), preoperative radiotherapy plus surgery (n=10), and surgery plus postoperative radiotherapy (n=68). The median follow-up time was 91.8 months, the 5-year local control (LC), distant metastasis-free survival (DMFS), progression-free survival (PFS), and overall survival (OS) rates were 72.6%, 73.0%, 52.9% and 78.0%, respectively. There were 33 patients (31.4%) with PNI-positive. The 5-year DMFS, PFS, and OS rates of PNI-positive group were 53.7%, 29.4% and 56.5%, respectively, which were significantly inferior to those of PNI-negative group (80.8%, 63.0% and 86.8%, respectively, P<0.05), while there was no significant difference in the 5-year LC rate between both groups (64.5% vs 76.5%, P=0.273). The multivariate Cox regression analysis showed PNI was one of the poor prognostic factors of DMFS (HR=3.514, 95%CI: 1.557-7.932), PFS (HR=2.562, 95%CI: 1.349-4.866) and OS (HR=2.605, 95%CI: 1.169-5.806). Among patients with PNI-positive, the 5-year LC, PFS and OS rates of patients received surgery combined with radiotherapy were 84.9%, 41.3% and 72.7%, respectively, which were significantly higher than 23.3%, 10.0% and 26.7% of patients receiving surgery or radiotherapy alone (P<0.05). Conclusion: The presence of PNI increases the risk of distant metastasis in patients with sinonasal ACC. Compared with patients with PNI-negative, the prognosis of patients with PNI-positive is relatively poor, and surgery combined with radiotherapy for PNI-positive sinonasal ACC results in good clinical outcomes.

Splicing mutation of a gene within the Duchenne muscular dystrophy family.

The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Capture sequencing of second-generation exons was used to investigate the DMD gene in a proband. Sanger sequencing was performed for mutation scanning in eight family members. Scale-invariant feature transform and PolyPhen were applied to predict the functional impact of protein mutations. A hemizygous splicing mutation IVS44ds +1G-A (c.6438 +1G>A) that induces abnormal splicing variants during late transcription and produces abnormal proteins was located in intron 44. Four missense mutations (p.Arg2937Gln, p.Asp882Gly, p.Lys2366Gln, and p.Arg1745His) that are known multiple-polymorphic sites were found in the coding region of the DMD gene. A heterozygous c.6438+1G>A mutation was detected on the X chromosome of the proband's mother and maternal grandmother.

Role of micro-RNA (miRNA) in pathogenesis of glioblastoma.

Glioblastoma (GBM) is a very lethal form of human brain cancer, which is characterized by rapid diffuse, infiltrative growth and high level of cellular heterogeneity. Such cancer patients usually survive for one year under treatment. Recently, the role of small non-coding RNA known as microRNAs (miRNA), have been suggested to be involved in the pathogenesis of glioblastoma, as miRNAs play a critical role in the tumor-forming processes. The change in expression levels of several miRNAs has been found in GBM patients within last 10 years. It is evident now that impairment of miRNA regulation is one of the key mechanisms in GBM pathogenesis. The miRNA deregulation is involved in many processes, such as cell proliferation, cell cycle regulation, apoptosis, invasion, glioma stem cell behavior, and angiogenesis. GBM is also known as Grade IV astrocytoma, a rare disease with an incidence of 2-3 cases per 100,000 people in Europe and North America, and 50% with GBM die within 1 year, while 90% within 3 years. The treatments of GBM involve chemotherapy, radiation and surgery. The median survival with standard radiation and chemotherapy with Temozolomide is 1 year and 3 months, and median survival without treatment is four and a half months. In this article, symptoms of GBM, treatments, the role of miRNAs, gene expressions, types of miRNAs, neoplasms and glioblastomas, the miRNA biogenesis pathways, deregulation of miRNAs, and care of GBM have been described.

The Ihh signal is essential for regulating proliferation and hypertrophy of cultured chicken chondrocytes.

The Indian hedgehog (Ihh) signal plays a vital role in regulating proliferation and hypertrophy of chondrocytes. To investigate its function in postnatal chicken (Gallus gallus) chondrocytes, cyclopamine was used to inhibit Ihh signaling. The MTT and ALP assays revealed the downgrade-proliferation and upgrade-differentiation of chondrocytes. To further elucidate the mechanism, the mRNA expression levels of Ihh, parathyroid hormone related protein (PTHrP), Gli-2, Bcl-2, Bone Morphogenetic Protein 6 (BMP-6), type X collagen (Col X) and type II collagen (Col II) were detected by quantitative real-time RT-PCR analysis, and the protein expressions of Ihh, Col X, and Col II were determined using Western blot analysis. After the Ihh signal was blocked, chondrocytes demonstrated high expression levels of PTHrP and Col X and low levels of Gli-2, BMP-6, Bcl-2 and Col II although Ihh expression was increased. Based on these results, the Ihh signal is essential for balancing chicken chondrocyte proliferation and hypertrophy, and the regulatory function of PTHrP acts in an Ihh-dependent manner. Furthermore, BMP-6 and Bcl-2 played roles in maintaining the development of chondrocytes and may be downstream regulatory factors of Ihh signaling.

Self-assembled quantum dots in a nanowire system for quantum photonics.

Quantum dots embedded within nanowires represent one of the most promising technologies for applications in quantum photonics. Whereas the top-down fabrication of such structures remains a technological challenge, their bottom-up fabrication through self-assembly is a potentially more powerful strategy. However, present approaches often yield quantum dots with large optical linewidths, making reproducibility of their physical properties difficult. We present a versatile quantum-dot-in-nanowire system that reproducibly self-assembles in core-shell GaAs/AlGaAs nanowires. The quantum dots form at the apex of a GaAs/AlGaAs interface, are highly stable, and can be positioned with nanometre precision relative to the nanowire centre. Unusually, their emission is blue-shifted relative to the lowest energy continuum states of the GaAs core. Large-scale electronic structure calculations show that the origin of the optical transitions lies in quantum confinement due to Al-rich barriers. By emitting in the red and self-assembling on silicon substrates, these quantum dots could therefore become building blocks for solid-state lighting devices and third-generation solar cells.

Bone response of broiler chickens (Gallus gallus domesticus) induced by corticosterone.

Experiments were conducted with chickens exposed to corticosterone (CORT), with the aim of determining its effects on bone characteristics. At 7 d of age, the experimental birds were injected daily with CORT (4 mg/kg of body mass) for 1 week. CORT administration significantly decreased the body weight while increasing relative liver weight of the chickens and the bone parameters were also decreased. Histology and immunohistochemistry of type X collagen revealed that CORT reduced the lengths of proliferative and prehypertrophic zone in growth plate and the number of positive chondrocytes in the prehypertrophic zone. In conclusion exposure to CORT depressed the growth performance and retarded the longitudinal growth of the long bones by inhibiting the proliferation and differentiation of chondrocytes in growth plate in broilers.

Primary salivary gland-type carcinomas of the nasopharynx: prognostic factors and outcome.

Primary salivary gland-type carcinomas of the nasopharynx (SNPC) are a rare malignancy with diverse clinical behaviour and different prognoses. Previous studies have reported on limited patient populations, and few long-term studies have outlined outcomes and prognostic factors. Controversy exists regarding the treatment policy for SNPC. The aim of this study was to define management approaches, therapeutic outcomes, and prognostic factors for SNPC. The medical records of 54 patients with SNPC at one institution between 1963 and 2006 were reviewed. Patient records were analysed for management approaches, outcomes, and prognostic factors. After a median follow-up of 61.3 (1.8-245.2) months, the 2-, and 5-year overall survival rates (OS), loco-regional failure free survival rates (LRFFS) and distant failure free survival rates (DFFS) were 84.6% and 61.3%, 74.4% and 55.4%, and 92.0% and 70.0%, respectively. Multivariate analyses indicated that lymph node metastases, date of treatment, and surgical treatment were independent factors for DFFS, whereas histological subtypes and distant metastases were independent factors affecting OS. The optimal treatment policy for patients with SNPC might be surgery plus radiotherapy.

Dosimetric variations of target volumes and organs at risk in nasopharyngeal carcinoma intensity-modulated radiotherapy.

OBJECTIVE: The aim of this study was to evaluate the actual dose variability to the targets and organs at risk (OARs) during nasopharyngeal carcinoma (NPC) intensity-modulated radiotherapy (IMRT) and to investigate the significance of replanning. METHODS: 11 NPC patients were included in this study. Each patient had both a planning CT and weekly repeated CT. Simulated plans that were generated by using the same beam configurations mapped to the repeated CT represented the actual delivered doses to the target volumes and OARs. An IMRT replanning was performed with the fifth week CT scan. Doses among the initial plan, the simulated plans and replanning were compared. RESULTS: There were no significant dosimetric differences in the gross tumour volume, clinical target volume (CTV) 1 or CTV2 for either the simulated plans or the replanning compared with the initial plan. Dosimetric variability of both parotid glands and the brain stem were unique to each individual, and doses to the spinal cord were always maintained within the limit. Replanning in the fifth week had significantly decreased the doses delivered to both parotids (p-values of the mean dose were 0.015 and 0.026 for the left and right parotid, respectively), whereas it did not reduce the doses to the brain stem and spinal cord. There was no relationship between dose variability and weight loss. CONCLUSIONS: There are no significant dose changes for target volumes and spinal cord, and doses to the brain stem and both parotid glands changed individually during NPC IMRT. Replanning helps to spare bilateral parotids.