A Giant Anaplastic Lymphoma Kinase Positive Anaplastic Large Cell Lymphoma: Case Report.

BACKGROUND: Anaplastic lymphoma kinase-positive (ALK+) large cell lymphoma (ALCL) is a systemic lymphoma. The invasion of the head and neck bone and skin by ALK+ ALCL is relatively uncommon in children. METHODS: We describe a 13-year-old boy diagnosed with ALK+ ALCL. RESULTS: He went a surgery of sampling biopsy procedure. Then the boy was treated with six cycles of adjuvant chemotherapy with Non-Hodgkin's Lymphoma-Berlin-Frankfurt-Munster (NHL-BFM)-90 K3 arm. Then, he achieved partial remission (PR). CONCLUSIONS: It is common for children to develop ALCL, which grows rapidly. Therefore, a sampling biopsy procedure and NHL-BFM-90 K3 were necessary for the patient.

Radiomics features of ascending and descending nasopharyngeal carcinoma. / ä¸Šè¡Œåž‹ä¸Žä¸‹è¡Œåž‹é¼»å’½ç™Œç›¸å ³å½±åƒç»„å­¦ç‰¹å¾.

OBJECTIVES: To evaluate the application value of CT-based radiomics features for the ascending and descending types of nasopharyngeal carcinoma (NPC). METHODS: A total of 217 NPC patients (48 ascending type and 169 descending type), who obtained CT images before radiotherapy in Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University from February 2015 to October 2017, were analyzed retrospectively. All patients were randomly divided into a training set (n=153) and a test set (n=64). Gross tumor volume in the nasopharynx (GTVnx) was selected as regions of interest (ROI) and was analyzed by radiomics. A total of 1 300 radiomics features were extracted via IBEX. The least absolute shrinkage and selection operator (LASSO) logistic regression was performed to choose the significant features. Support vector machine (SVM) and random forest (RF) classifiers were built and verified. RESULTS: Six features were selected by the LASSO from 1 300 radiomics features. Compared with SVM classifier, RF classifier showed better classification performance. The area under curve (AUC) of the receiver operating characteristic (ROC) curve, accuracy, sensitivity, and specificity were 0.989, 0.941, 1.000, and 0.924, respectively for the training set; 0.994, 0.937, 1.000, and 0.924, respectively for the validation set. CONCLUSIONS: CT-based radiomics features possess great potential in differentiating ascending and descending NPC. It provides a certain basis for accurate medical treatment of NPC, and may affect the treatment strategy of NPC in the future.

The polymorphism of SREBF1 gene rs11868035 G/A is associated with susceptibility to Parkinson's disease in a Chinese population.

PURPOSE: To explore the potential association between the single-nucleotide polymorphism (SNP) of two functional genes (sterol regulatory element binding transcription factor1 [SREBF1] gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson's disease (PD) in people of Northeast China. METHODS: A number of 649 cases of PD from consecutive outpatient and inpatient ward of our hospital were included in this retrospective study, and 355 healthy people were also included as control group. The technique of Kompetitive Allele Specific PCR (KASP) was applied to determine the frequency distribution of genotype and allele gene of rs11868035 and rs2823357 in both groups. RESULTS: The significant association was observed for SREBF1 gene rs11868035 in G carriers in PD patients. The frequency of GA + GG genotype and G allele in PD group was significantly higher than in control group of SREBF1 gene rs11868035 (p<.001). PD patients with G/A variant got higher UPDRSII + III score and lower MMSE score than non-carriers, which was statistically different (p=.017, p=.003, respectively). As for USP25, there was no significant difference in the distributions of genotypes and alleles of rs2823357 between PD patients and controls (p>.05). CONCLUSIONS: Polymorphism of SREBF1 gene rs11868035 may increase susceptibility to PD in the northeastern Chinese population, while variant of USP25 gene rs2823357 may have no association with susceptibility to PD in northeastern Chinese. PD patients with G/A variant may worsen their motor and cognitive function disorder.

The Long Non-Coding RNA TP73-AS1 Interacted With miR-142 to Modulate Brain Glioma Growth Through HMGB1/RAGE Pathway.

P73 antisense RNA 1T (non-protein coding), also known as TP73-AS1 or PDAM, is a long non-coding RNA which may regulate apoptosis via regulation of p53-dependent anti-apoptotic genes. An abnormal change of TP73-AS1 expression was noticed in cancers. The effects of TP73-AS1 in brain glioma growth and the underlying mechanism remain unclear so far. In the present study, TP73-AS1 was specifically upregulated in brain glioma tissues and cell lines, and was associated with poorer prognosis in patients with glioma. TP73-AS1 knocking down suppressed human brain glioma cell proliferation and invasion in vitro, as well as HMGB1 protein. MiR-142 has been reported to play a pivotal role in cancers; here we observed that TP73-AS1 and miR-142 could negatively regulate each other. Results from luciferase assays suggested that TP73-AS1 might compete with HMGB1 for miR-142 binding. Further, HMGB1/RAGE was involved in TP73-AS1/miR-142 regulation of glioma cell proliferation and invasion. In glioma tissues, TP73-AS1 and HMGB1 expression was up-regulated, whereas miR-142 expression was down-regulated. Data from the present study revealed that TP73-AS1 promoted the brain glioma growth and invasion through acting as a competing endogenous RNA (ceRNA) to promote HMGB1 expression by sponging miR-142. In conclusion, we regarded TP73-AS1 as an oncogenic lncRNA promoting brain glioma proliferation and invasion, and a potential target for human brain glioma treatment. J. Cell. Biochem. 119: 3007-3016, 2018. © 2017 Wiley Periodicals, Inc.

Monocytes, microglia, and CD200-CD200R1 signaling are essential in the transmission of inflammation from the periphery to the central nervous system.

Peripheral inflammation is known to trigger neuroinflammation and neurodegenerative disease. However, the key components during the propagation of inflammation from the periphery to the central nervous system (CNS) remain unclear. Lipopolysaccharide (LPS) was administered to Sprague-Dawley rats to induce peripheral inflammation. An intravenous injection and an intranigral injection of clodronate liposomes were given to deplete monocytes and microglia, respectively. Recombinant CD200 fusion protein (CD200Fc) or an anti-CD200R1 antibody was injected into the substantia nigra to manipulate the involvement of CD200 and CD200R1. Immunohistochemistry and immunofluorescence staining were used to measure microglial activation and dopaminergic neuronal loss. The expression of brain pro-inflammatory cytokines (i.e., tumor necrosis factor alpha, IL-1ß) and CD200-CD200R1 signaling were measured by quantitative RT-PCR. Our data showed that the peripheral LPS injection activated the microglia and induced an increase in the levels of pro-inflammatory cytokines (i.e., tumor necrosis factor alpha, IL-1ß). The depletion of either monocytes or microglia suppressed these inflammatory effects that were induced by peripheral LPS administration. The peripheral LPS injection increased the expression of CD200 and CD200R1 in the substantia nigra. Dopaminergic neuronal loss induced by the peripheral LPS injection was accelerated by the blockade of CD200-CD200R1 signaling with an anti-CD200R1 antibody and attenuated by intensifying the signaling with CD200Fc. These results highlight the importance of monocytes, microglia, and CD200-CD200R1 signaling in the transmission of inflammation from the periphery to the CNS.

Peripheral immune tolerance alleviates the intracranial lipopolysaccharide injection-induced neuroinflammation and protects the dopaminergic neurons from neuroinflammation-related neurotoxicity.

BACKGROUND: Neuroinflammation plays a critical role in the onset and development of neurodegeneration disorders such as Parkinson's disease. The immune activities of the central nervous system are profoundly affected by peripheral immune activities. Immune tolerance refers to the unresponsiveness of the immune system to continuous or repeated stimulation to avoid excessive inflammation and unnecessary by-stander injury in the face of continuous antigen threat. It has been proved that the immune tolerance could suppress the development of various peripheral inflammation-related diseases. However, the role of immune tolerance in neuroinflammation and neurodegenerative diseases was not clear. METHODS: Rats were injected with repeated low-dose lipopolysaccharide (LPS, 0.3 mg/kg) intraperitoneally for 4 days to induce peripheral immune tolerance. Neuroinflammation was produced using intracranial LPS (15 µg) injection. Inflammation cytokines were measured using enzyme-linked immunosorbent assay (ELISA) and quantitative real-time polymerase chain reaction (qRT-PCR). Microglial activation were measured using immunostaining of Iba-1 and ED-1. Dopaminergic neuronal damage was evaluated using immunochemistry staining and stereological counting of TH-positive neurons. Behavioral impairment was evaluated using amphetamine-induced rotational behavioral assessment. RESULTS: Compared with the non-immune tolerated animals, pre-treatment of peripheral immune tolerance significantly decreased the production of inflammatory cytokines, suppressed the microglial activation, and increased the number of dopaminergic neuronal survival in the substantia nigra. CONCLUSIONS: Our results indicated that peripheral immune tolerance attenuated neuroinflammation and inhibited neuroinflammation-induced dopaminergic neuronal death.

The congenital sternoclavicular sinus in children: Our experience of 56 cases.

OBJECTIVES: The objective of this study is to explore the clinical diagnosis and treatment of the congenital sternoclavicular sinus in the region of sternoclavicular joint, providing valuable insights for clinical practice in children. METHODOLOGY: A retrospective review of case notes was conducted for all patients treated for congenital sternoclavicular sinus at a tertiary care pediatric otolaryngology practice from January 2022 to September 2023.This review analyzed the clinical presentations, imaging examination, pathological examination, and treatment. RESULTS: A total of 56 patients with congenital sternoclavicular sinus were included in the study, with a mean age of 4.10 ± 2.57 years old. Among these patients, the sinuses were located on the left side in 43 cases,on the right side in 12 cases,and bilaterally in one case.While two patients never experienced inflammation, 54 patients did, and 45 of them underwent incision and drainage before excision. Imaging examination, including ultrasonography and computerized tomography (CT) scans, revealed characteristics such as thickening of subcutaneous tissue,subcutaneous tubular structures or tubercles in front of the clavicle,and irregularly shaped lesions with clear borders and uneven internal low echo, Pathological examination confirmed that the sinuses were lined by squamous epithelium in all patients. CONCLUSIONS: The congenital sternoclavicular sinus may be a remnant of the fourth branchial cleft on the skin side.Complete resection of the sinus during the quiescent phase of inflammation is the recommended curative treatment to prevent recurrent infection.

[The clinicopathologic features of unicentric Castleman disease in the children's neck].

Objective:To investigate the clinical features, imaging findings, pathological phenotype, treatment and prognosis of unicentric Castleman disease in the children's neck, in order to improve the understanding of CD among Otolaryngology Head and Neck Surgery. Methods:Retrospective cross-sectional, observational study was undertaken in Kunming Children's Hospital, from the archival data between January July 2015 and June 2020. Only 6 cases of CD were identified after studying the histomorphological characteristics and neck mass diagnosed. The imaging and pathological features were summarized and the pathogenesis was discussed. Results:Among the 6 cases of Castleman disease, five were male and one was female. Histopathology: Five cases were hyaline vascular subtype, one was mixed type. The uniform clinicopathologic features seen in all hyaline vascular subtype of CD included atrophic germinal centre with lymphocyte depletion, concentric rings of small lymphocytes, increased vascularity and predominance of high endothelial vessels in interfollicular region. Twinning, in which two or more germinal centers are combined and surrounded by lymphocytes in the mantle zone was observed in two cases with lollipop pattern at the same time. All the cases underwent complete surgical resection, the median follow-up time was 48 months（26, 84）, both of them had good prognosis. Conclusion:Most cases of unicentric type CD in children are diagnosed late, which is clinical showed by painless lymphadenopathy. The most common pathological type is hyaline vascular. The overall prognosis of surgical treatment was good.

Activation of the rostral nucleus accumbens shell by optogenetics induces cataplexy-like behavior in orexin neuron-ablated mice.

Cataplexy is one of the symptoms of type 1 narcolepsy, characterized by a sudden loss of muscle tone. It can be seen as a behavioral index of salience, predominantly positive emotion, since it is triggered by laughter in humans and palatable foods in mice. In our previous study using chemogenetic techniques in narcoleptic mice (orexin neuron-ablated mice), we found that the rostral nucleus accumbens (NAc) shell is needed for chocolate-induced cataplexy. In this study, we investigated whether a short-lasting stimulation/inhibition of the NAc by optogenetics led to a similar result. Photo-illumination to the NAc in the channel rhodopsin-expressing mice showed a higher incidence (34.9 ± 5.1%) of cataplexy-like behavior than the control mice (17.8 ± 3.1%, P = 0.0056). Meanwhile, inactivation with archaerhodopsin did not affect incidence. The episode duration of cataplexy-like behavior was not affected by activation or inactivation. Immunohistochemical analysis revealed that photo-illumination activated channel rhodopsin-expressing NAc shell neurons. Thus, activation of the NAc, whether transient (light stimulation) or longer-lasting (chemical stimulation in our previous study), facilitates cataplexy-like behaviors and contributes to the induction but not maintenance in them. On the other hand, our study's result from optogenetic inhibition of the NAc (no effect) was different from chemogenetic inhibition (reduction of cataplexy-like behavior) in our previous study. We propose that the initiation of cataplexy-like behavior is facilitated by activation of the NAc, while NAc-independent mechanisms determine the termination of the behavior.

[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites].

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

[Clinical characteristics of 91 patients of otorhinolaryngology head and neck malignant tumors in children].

Objective:To analyze the clinical characteristics, treatment and prognosis of the otolaryngology head and neck malignant tumors in children, in order to improve the diagnosis and treatment of the diseases. Methods:The patients of otorhinolaryngology head and neck malignant solid tumors under 14 years old hospitalized in Kunming Children's Hospital and the First Affiliated Hospital of Kunming Medical University from 2014 to 2020 were retrospectively analyzed. All cases were statistically analyzed according to gender, age, location, pathological type and treatment method. Results:The main clinical manifestations of 91 children were mainly facial and neck masses, including nasal congestion, swallowing discomfort, and continuous intermittent fever. CT and MRI examination showed that the diameter of the tumor was 1.2 cm ×2.0 cm to 5.0 cm×12.0 cm, with a mean of 2.8 cm×3.2 cm, and 19 cases had distant metastasis. The main tissue sources were soft tissue （56 cases） and epithelial tissue （35 cases）. There were 6 pathological types, the most common was sarcoma （41 cases）, followed by neuroblastoma （15 cases）, papillary carcinoma （14 cases）, squamous cell carcinoma （10 cases）, mucoepidermoid carcinoma （8 cases）, and adenocarcinoma （3 cases）. According to the classification of tissue origin, the statistical analysis of gender and pathological type showed statistically significant differences in both gender and pathological types（P<0.01）. Conclusion:The age of onset, primary site, tissue origin and pathological type of otolaryngology head and neck malignancy in children have their own characteristics, which should be comprehensively evaluated and treated with multidisciplinary treatment.

CT-based dosiomics and radiomics model predicts radiation-induced lymphopenia in nasopharyngeal carcinoma patients.

Purpose: This study aims to develop and validate a model predictive for the incidence of grade 4 radiation-induced lymphopenia (G4RIL), based on dosiomics features and radiomics features from the planning CT of nasopharyngeal carcinoma (NPC) treated by radiation therapy. Methods: The dataset of 125 NPC patients treated with radiotherapy from August 2018 to March 2019 was randomly divided into two sets-an 85-sample training set and a 40-sample test set. Dosiomics features and radiomics features of the CT image within the skull bone and cervical vertebrae were extracted. A feature selection process of multiple steps was employed to identify the features that most accurately forecast the data and eliminate superfluous or insignificant ones. A support vector machine learning classifier with correction for imbalanced data was trained on the patient dataset for prediction of RIL (positive classifier for G4RIL, negative otherwise). The model's predictive capability was gauged by gauging its sensitivity (the likelihood of a positive test being administered to patients with G4RIL) and specificity in the test set. The area beneath the ROC curve (AUC) was utilized to explore the association of characteristics with the occurrence of G4RIL. Results: Three clinical features, three dosiomics features, and three radiomics features exhibited significant correlations with G4RIL. Those features were then used for model construction. The combination model, based on nine robust features, yielded the most impressive results with an ACC value of 0.88 in the test set, while the dosiomics model, with three dosiomics features, had an ACC value of 0.82, the radiomics model, with three radiomics features, had an ACC value of 0.82, and the clinical model, with its initial features, had an ACC value of 0.6 for prediction performance. Conclusion: The findings show that radiomics and dosiomics features are correlated with the G4RIL of NPC patients. The model incorporating radiomics features and dosiomics features from planning CT can predict the incidence of G4RIL in NPC patients.

[Clinical characteristics of localized Langerhans cell histiocytosis in children].

Objective:To explore the clinical features of cephalic and facial limited langerhans cell histiocytosis （LCH） in children for improving its diagnosis and treatment. Methods:Clinical data of 8 children with cephalic and facial limited LCH were retrospectively analyzed, including the onset time of disease, lesion location, imaging data, clinical manifestations and treatment strategies. Results:One case was preliminarily diagnosed as chronic inflammation with nasal back lesions, then conformed by repeated surgical pathology. Six cases were found to have simple cephalic and facial lumps without pain and swelling. One case was found to have temporal lump with suppurate in the lateral auditory canal. Five cases were treated with surgical excision of lesions. Three cases were treated with surgical excision of lesions, and continued with chemotherapy after confirmed pathological diagnosis. All cases were followed up for 2-3 years with good prognosis. Conclusion:Cephalic and facial limited LCH in children was easy to be misdiagnosed and should be regarded as animportant differential diagnosis of cephalic and facial lumps. Good outcome is achieved by treatment with surgical resection combined with adjuvant chemotherapy.

[Genotype and phenotype analysis of a family with Waardenburg syndrome type â caused by a novel mutation in PAX3 gene].

Objective:To identify gene mutation and analysis the association between clinical characterizes and the mutations in a family of Waardenburg syndrome （WS） type I in Yunnan, China. Methods:With informed consent, the proband with WS phenotype and his family members were given medical history collection, physical examination and audiological evaluation. Peripheral blood was obtained, genomic DNA was extracted, and deafness related genes were detected by high-throughput sequencing. Sanger sequencing was used to verify the mutation sites of proband and his family members. Results:C. 602C>G mutation in exon 5 of PAX3 gene was identified, which is nonsense mutation and may cause a truncated protein. The mutation cause 201 amino acid of the protein changed from serine to stop codon. According to the American College of Medical Genetics and Genomics （ACMG）, it is considered as Pathogenicity（PVS1+PM2+PP3）. This mutation has not been included in the database also not been reported in the literature. Conclusion:Combined with the results of clinical diagnosis and gene diagnosis, this mutation was considered as the cause of the disease. This study enriched mutation spectrum of PAX3 gene.

[Clinic analysis of cervical lymph node lesions in children].

Objective:Explore the clinical features of cervical lymph node lesions in children with different pathological types, and provide help for the early diagnosis of the disease. Method:The data of 73 children with cervical lymph node disease diagnosed by lymph node biopsy were collected, and the gender composition, age distribution, lymph node characteristics and clinical manifestations of children with different pathological types were analyzed. Result:Among the 73 children with cervical lymph node disease, the incidence of male patients in the benign disease group was less than that of female ones, and the incidence of male patients in the malignant disease group was greater than that of female ones, the difference in gender composition between the two groups was statistically significant（P<0.05）. The benign disease group had the largest proportion in the school-age period（27.4%）, and the malignant disease group had a larger proportion in the preschool period（21.9%） and school-age period（20.5%）, both groups had a relatively smaller proportion in the infant and adolescent period, the difference in age distribution within the group was statistically significant（P<0.01）. Among the various pathological types, the proportion of 73 children with lymph node inflammatory reactive hyperplasia was the largest, 35.6%（26/73）, and was mainly at school age; the second was Hodgkin's lymphoma, accounting for 20.5%（15/73）, mainly in the preschool and school age. The average maximum transverse diameter of lymph nodes in the malignant disease group was greater than that in the benign disease group（P<0.05）. The lymph nodes in the benign disease group were mainly distributed in areas Ⅰ, Ⅱ, and Ⅲ, and the lymph nodes in the malignant disease group were mainly distributed in areas Ⅱ, Ⅲ, Ⅳ, and Ⅴ, there was a statistically significant difference in the distribution of enlarged lymph nodes between the two groups（P<0.01）. Conclusion:Different pathological types of cervical lymph node lesions in children are different in gender composition, age distribution, lymph node size and distribution, and cervical lymph node lesions in children have their own characteristics.

Radiation-induced lymphopenia correlates with survival in nasopharyngeal carcinoma: impact of treatment modality and the baseline lymphocyte count.

BACKGROUND AND PURPOSE: We evaluated the relationship between patient-, tumor-, and treatment-related features and radiation-induced lymphopenia (RIL) and evaluated the correlation between RIL and survival outcome in NPC patients to help improve the treatment strategy. METHODS: This retrospective study included 374 patients with stage II-IVa NPC who had been treated with definitive RT and were enrolled from 2004 to 2015; The associations between the G3-4 RIL (absolute lymphocyte count, ALC <  0.5 × 109 cells/L) during RT and patient-, tumor-, and treatment-related factors were assessed using Cox regression analyses. The correlation between ALC nadir and survival was examined using a Kaplan-Meier analysis, compared with the log-rank test, and confirmed by a Cox proportional hazards analysis. RESULTS: In the multivariate analysis, lower baseline ALC and intensity modulated radiation therapy (IMRT) (vs. 2 dimensional-conformal radiation therapy,2D-CRT) were identified as 2 independent factors that were associated with G3-4 RIL. In the multivariate survival analysis, patients with G3-4 ALC nadir had longer local recurrence-free survival durations (LRFS) (vs. G0-2 nadir, HR = 0.548, P = 0.005) and longer progression-free survival durations (PFS) (vs. G0-2 nadir, HR = 0.676, P = 0.022), while patients with G4 ALC nadir had a shorter distant-metastasis-free survival duration (DMFS) (vs. G0-2 nadir, hazard ratio [HR] = 2.567, P = 0.037). CONCLUSIONS: In the study, lymphopenia during RT were affected by baseline ALC and RT modality independently. Moreover, G3-4 ALC nadir was independently linked with longer PFS and LRFS durations, while G4 ALC nadir was independently linked with a shorter DMFS duration.

Automatic Recognition of Laryngoscopic Images Using a Deep-Learning Technique.

OBJECTIVES/HYPOTHESIS: To develop a deep-learning-based computer-aided diagnosis system for distinguishing laryngeal neoplasms (benign, precancerous lesions, and cancer) and improve the clinician-based accuracy of diagnostic assessments of laryngoscopy findings. STUDY DESIGN: Retrospective study. METHODS: A total of 24,667 laryngoscopy images (normal, vocal nodule, polyps, leukoplakia and malignancy) were collected to develop and test a convolutional neural network (CNN)-based classifier. A comparison between the proposed CNN-based classifier and the clinical visual assessments (CVAs) by 12 otolaryngologists was conducted. RESULTS: In the independent testing dataset, an overall accuracy of 96.24% was achieved; for leukoplakia, benign, malignancy, normal, and vocal nodule, the sensitivity and specificity were 92.8% vs. 98.9%, 97% vs. 99.7%, 89% vs. 99.3%, 99.0% vs. 99.4%, and 97.2% vs. 99.1%, respectively. Furthermore, when compared with CVAs on the randomly selected test dataset, the CNN-based classifier outperformed physicians for most laryngeal conditions, with striking improvements in the ability to distinguish nodules (98% vs. 45%, P < .001), polyps (91% vs. 86%, P < .001), leukoplakia (91% vs. 65%, P < .001), and malignancy (90% vs. 54%, P < .001). CONCLUSIONS: The CNN-based classifier can provide a valuable reference for the diagnosis of laryngeal neoplasms during laryngoscopy, especially for distinguishing benign, precancerous, and cancer lesions. LEVEL OF EVIDENCE: NA Laryngoscope, 130:E686-E693, 2020.

CLOCK 3111T/C Variant Correlates with Motor Fluctuation and Sleep Disorders in Chinese Patients with Parkinson's Disease.

BACKGROUND: The clock genes controlling biological rhythm play an important role in the pathophysiology of aging. The purpose of this study was to determine whether there is an association between a variant of the circadian locomotor output cycles kaput (CLOCK) gene and circadian dysfunction of Parkinson's disease (PD). METHODS: Six hundred and forty-six cases of Parkinson's disease from consecutive outpatients and inpatients ward from our hospital were included in this study. Kompetitive allele-specific PCR was used to determine the frequency distribution of genotypes and alleles. The examinations for the PD group were assessed in person in order to evaluate motor symptoms, cognitive function, sleep, and depression, including the Unified Parkinson's Disease Rating Scale (UPDRS), Mini-Mental State Examination (MMSE), Pittsburgh Sleep Quality Index (PSQI), and 17-item Hamilton Rating Scale for Depression (HAMD-17). RESULTS: Motor fluctuation (P < 0.001) and sleep disorders (P=0.007) were significantly different between the two groups. These correlations persisted after adjusting for confounding risk factors by further binary logistic regression analysis, suggesting that the CLOCK 3111T/C variant was associated with motor fluctuation (OR = 1.080, P < 0.001) and a subjective sleep disorder (OR = 1.130, P=0.037). CONCLUSION: The CLOCK 3111T/C variant can be an independent risk factor for motor fluctuation and sleep disorder in Parkinson's disease.

Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene.

We report a 22-year onset age man diagnosed with rapidly progressing early-onset Alzheimer's disease with predominant extrapyramidal symptoms as the initial presenting symptoms and V391G mutation in presenilin 1 gene (PSEN1) was founded. The unaffected parents of the proband are not carriers of the mutation but have histories of extrapyramidal diseases, suggesting de novo origin of V391G mutation. The Val391Gly variation widens the number of PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture.

A large-scale retrospective study of the overall survival outcome in nasopharyngeal carcinoma with hypertension in Chinese population.

BACKGROUND: It is known that hypertension is associated with high levels of vascular endothelial growth factor (VEGF) expression which is, in turn, highly connected to the prognosis of a wide array of cancers. The purpose of this study was to evaluate the relationship between hypertension and prognosis of nasopharyngeal carcinoma (NPC) with definitive radiotherapy in a Chinese population. PATIENTS AND METHODS: We retrospectively reviewed 4493 patients with NPC who received definitive radiotherapy from 1995 to 2006, with a minimum follow-up of 5 years. Kaplan-Meier survival analysis and Cox proportional hazard model were utilized to determine the association between hypertension and overall survival (OS). RESULTS: A total of 802 patients with NPC suffered from hypertension as compared to 3691 patients with no associated hypertension. Kaplan-Meier analysis revealed median overall survival of 101.1 and 110.0 months, respectively (p<0.05). In univariate survival analysis, patients with hypertension had worse OS (p<0.05) than non-hypertension patients. Patients with higher grade hypertension also had worse OS (p<0.05) compare to patients with grade 1 hypertension. In multivariate survival analysis, patients with hypertension had significantly worse OS (p<0.05) than non-hypertension patients, as well as M stage (p<0.001), after adjustment for related clinical confounding factors. CONCLUSION: Our findings provide evidence that hypertension is an independent factor and result in poorer survival outcomes in patients with NPC, the mechanism is still unclear, and it worth further research.