Low illumination fog noise image denoising method based on ACE-GPM.

The Perona-Malik (P-M) model exhibits deficiencies such as noise amplification, new noise introduction, and significant gradient effects when processing noisy images. To address these issues, this paper proposes an image-denoising algorithm, ACE-GPM, which integrates an Automatic Color Equalization (ACE) algorithm with a gradient-adjusted P-M model. Initially, the ACE algorithm is employed to enhance the contrast of low-light images obscured by fog and noise. Subsequently, the Otsu method, a technique to find the optimal threshold based on between-class variance, is applied for precise segmentation, enabling more accurate identification of different regions within the image. After that, distinct gradients enhance the image's foreground and background via an enhancement function that accentuates edge and detailed information. The denoising process is finalized by applying the gradient P-M model, employing a gradient descent approach to further emphasize image edges and details. Experimental evidence indicates that the proposed ACE-GPM algorithm not only elevates image contrast and eliminates noise more effectively than other denoising methods but also preserves image details and texture information, evidenced by an average increase of 0.42 in the information entropy value. Moreover, the proposed solution achieves these outcomes with reduced computational resource expenditures while maintaining high image quality.

Deep Learning with Automatic Data Augmentation for Segmenting Schisis Cavities in the Optical Coherence Tomography Images of X-Linked Juvenile Retinoschisis Patients.

X-linked juvenile retinoschisis (XLRS) is an inherited disorder characterized by retinal schisis cavities, which can be observed in optical coherence tomography (OCT) images. Monitoring disease progression necessitates the accurate segmentation and quantification of these cavities; yet, current manual methods are time consuming and result in subjective interpretations, highlighting the need for automated and precise solutions. We employed five state-of-the-art deep learning models-U-Net, U-Net++, Attention U-Net, Residual U-Net, and TransUNet-for the task, leveraging a dataset of 1500 OCT images from 30 patients. To enhance the models' performance, we utilized data augmentation strategies that were optimized via deep reinforcement learning. The deep learning models achieved a human-equivalent accuracy level in the segmentation of schisis cavities, with U-Net++ surpassing others by attaining an accuracy of 0.9927 and a Dice coefficient of 0.8568. By utilizing reinforcement-learning-based automatic data augmentation, deep learning segmentation models demonstrate a robust and precise method for the automated segmentation of schisis cavities in OCT images. These findings are a promising step toward enhancing clinical evaluation and treatment planning for XLRS.

Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.

ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. On comprehensive clinical examinations using molecular methods, we identified a Chinese patient from a consanguineous family carrying a novel homozygous variant c.22_23delAG (p.S8Lfs*10) in ARL2BP, presenting with retinitis pigmentosa (RP), situs inversus totalis, and oligozoospermia. Situs inversus and male infertility have never been reported in the same patient with ARL2BP variants; therefore, this a novel ARL2BP-associated phenotypic triad of RP, situs inversus, and male infertility. Moreover, this patient likely had olfactory dysfunction susceptibility and presented with anosmia. We found reduced patient-derived fibroblast proliferation and ciliary length. Our findings expand the genotypic spectrum and reveal abnormal cell proliferation and ciliogenesis in ARL2BP-associated patients.

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

PURPOSE: To reveal the clinical and genetic features of 54 Chinese pedigrees with syndromic or nonsyndromic retinal dystrophies related to CEP290 and to explore the genotype-phenotype correlation. DESIGN: Retrospective cohort study. METHODS: Patients diagnosed with nonsyndromic inherited retinal dystrophy (IRD) or syndromic ciliopathy (SCP) were enrolled. We identified 61 patients from 54 families carrying biallelic pathogenic CEP290 variants using next-generation sequencing, Sanger sequencing, and co-segregation validation. Genotype-phenotype correlation was evaluated. RESULTS: This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61), retinitis pigmentosa (RP, 10/61), and cone-rod dystrophy (CORD, 1/61). The SCP phenotypes included Joubert syndrome (JS) (23/24) and Bardet-Biedl syndrome (BBS) (1/24). We detected 73 different CEP290 variants, of which 33 (45.2%) were not previously reported. Two novel copy number variations (CNVs) and 1 novel pathogenic synonymous change were identified. The most recurrent alterations in the IRD and SCP were p.Q123* (6/64, 9.4%) and p.I556Ffs*17 (10/44, 22.7%), respectively. IRD patients carried more stop-gain alleles (25/64, 39.1%), whereas SCP patients carried more frameshift alleles (23/44, 52.3%). CONCLUSIONS: LCA was the most common retinal dystrophy phenotype, and JS was the most prevalent syndrome in CEP290 patients; RP/CORD and BBS may be present in early adulthood. The hot spot variants and distribution of genotypes were distinct between IRD and SCP. Our study expands the CEP290 variant spectrum and enhances the current knowledge of CEP290 heterogeneity.

Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations.

RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD). Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of a patient with RDH12 mutations. Blood sample was obtained, and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC line. The hiPSCs were characterized according to standard protocols including karyotyping, pluripotency marker expression and differentiation towards the three germ layers.

Use of Propensity Score Matching to Compare Short Outcomes from Transoral and External Surgical Approaches in Patients with Deep-Lobe Parotid Pleomorphic Adenomas.

To compare the outcomes of patients who had deep-lobe parotid gland pleomorphic adenomas (PAs) that extended into the parapharyngeal space after surgical treatment, using a transoral approach or an external approach. One hundred and twelve eligible patients, with deep-lobe parotid gland PAs, were enrolled in this retrospective study. The surgical outcomes were compared for patients who received a transoral approach and an external approach, using 1:1 propensity score matching (PSM). The outcome measures were recurrence rate, facial nerve deficit, Frey's syndrome, and hospitalization time. The median follow-up time was 4.8 years. After PSM, the transoral approach and external approach groups had no statistically significant difference in recurrence (10.3% vs. 3.4%; p = 0.201). The transoral approach group had no facial nerve deficit, but 5 of 29 patients (17.2%) in the external approach group had transient facial nerve paralysis (p = 0.052). The external approach group had a longer hospitalization time than the transoral approach group (5 vs. 4 days, p = 0.0017). The use of a transoral surgical approach to treat patients with deep-lobe parotid gland PAs led to low recurrence, shorter hospitalization times, and good functional and cosmetic outcomes.

Extramedullary Plasmacytoma: Long-Term Clinical Outcomes in a Single-Center in China and Literature Review.

The aim is to analyze the clinical outcomes of patients with extramedullary plasmacytoma (EMP) and review the characteristics of this disease. We retrospectively reviewed the clinical data of a cohort of 22 patients diagnosed with EMP between 1983 and 2017. Baseline characteristics and progression data were collected to calculate the incidence of progression to multiple myeloma (MM) and to analyze survival rates and outcomes. Previous major cohort studies were reviewed and compared with this study. Extramedullary plasmacytomas were located in the head and neck in 17 (77%) of the 22 patients. The median time between onset and diagnosis was 7 months, and the median age at diagnosis was 52.5 years (range 15-72 years). Extramedullary plasmacytoma occurred more frequently in men with an approximate ratio of 2.1:1. The majority of patients underwent surgery (13/22, 59.1%) and half received radiation (11/22, 50%). A small proportion of patients received chemotherapy (2/22, 9.1%). There was a median follow-up time of 98.5 months. The 5-year overall survival, progression-free survival, and MM-free survival rates were 84.2%, 67.3% and 75.9%, respectively. Complete resection without major functional damage is a promising option that can favorably improve prognosis in patients with resectable disease. Patients with regional lymph node metastasis or positive immunoelectrophoresis results require more aggressive treatment and may have poorer prognosis.

Quality of Life in Treating Persistent Neurogenic Dysphagia with Cricopharyngeal Myotomy.

Neurological impairment is an important cause of dysphagia. This study analyzed whether quality of life (QoL) is improved after coblation-assisted endoscopic cricopharyngeal myotomy (CAECPM) for patients with persistent neurological dysphagia who meet the criteria by using the Chinese version of the Swallow Quality-of-Life Questionnaire (CSWAL-QOL). 22 patients with dysphagia for more than 6 months after stroke or lateral skull base surgery were screened. All patients exhibited a poor response to conservative treatment such as swallowing rehabilitation. Videofluoroscopic swallowing studies (VFSS) showed a restricted cricopharyngeal opening. The preoperative CSWAL-QOL score was 377.7 (311.3-493.0) out of 1000; the postoperative score was 641.7 (293.7-758.3) out of 1000; the preoperative median dysphagia frequency was 41.4 (25.7-61.4) out of 100; and the postoperative median score was 64.3 (24.3-80.0). A significant difference was found between preoperative and postoperative scores together with dysphagia frequency (P < 0.05). Among all the variables, laryngeal elevation ability was statistically significantly correlated with efficacy of CAECPM (P = 0.01). These values indicate that quality of life could be improved after CAECPM for patients with persistent neurological dysphagia, who have cricopharyngeal achalasia. The ability of laryngeal elevation has significant influence. The CSWAL-QOL can be used to assess different aspects of the swallow-related quality of life of these patients.

Matched-pair analysis of survival in the patients with T3 laryngeal squamous cell carcinoma treated with supracricoid partial laryngectomy or total laryngectomy.

BACKGROUND: The survival outcomes between supracricoid partial laryngectomy (SCPL) and total laryngectomy (TL) were compared in the groups of matched-pair patients with T3 laryngeal squamous cell carcinoma (LSCC). METHODS: Patients with T3 LSCC were matched based on prognostic factors. The Kaplan-Meier curve and the Cox proportional hazards model were used for analysis on survival. RESULTS: A total of 212 patients with T3 LSCC were included after matching (106 underwent SCPL and 106 underwent TL). Multivariable analysis showed no differences in overall survival (hazard risk [HR]=1.15; 95% CI: 0.79-1.67; P=0.47), disease-specific survival (HR=1.11; 95% CI: 0.69-1.80; P=0.66), and recurrence-free survival (HR=1.07; 95% CI: 0.68-1.68; P=0.77) between the SCPL group and TL group. CONCLUSION: SCPL provides reliable therapeutic outcomes and can be used to avoid a TL surgery in some patients with advanced primary laryngeal cancer.

All-PM wavelength-tunable and harmonically mode-locking Yb-doped fiber laser.

We report a wavelength-tunable harmonically mode-locking dissipative soliton fiber laser based on a high-speed intensity modulator with a simple all-polarization-maintaining (all-PM) cavity. The center wavelength can be precisely tuned from 1029.35 to 1079.25 nm by tuning only the frequency of the pulse pattern generator (PPG), and the linear tuning accuracy of the wavelength can reach 0.0093 nm/kHz. The degree of polarization can reach 98.969%. The FWHM of the pulse is measured to be 30.1 ps, and the intracavity pulse energy after the gain fiber can reach 5.41 nJ. All orders of the harmonic mode-locking repetition rate are tuned from ∼33.346 to ∼366.806 MHz through adjustment of the data length and frequency of PPG.

A novel endoscopic surgery for dysphagia after stroke.

BACKGROUND: Dysphagia is a common complication in stroke patients, which severely affects quality of life. This study aimed to evaluate the effectiveness and safety of temperature-controlled plasma radiofrequency (coblation)-assisted endoscopic cricopharyngeal myotomy (CAECPM) for the treatment sustained (>6 months) dysphagia in stroke patients. METHODS: This retrospective case-control study included a total of 24 stroke patients with sustained dysphagia, who were either treated with transcervical cricopharyngeal myotomy (CPM) (n = 16) or CAECPM (n = 12). The patients' swallowing function was evaluated by the Chinese version of the swallow quality-of-life questionnaire (CSWAL-QOL), and dysphagia and aspiration was evaluated using the videofluoroscopic swallowing study (VFSS) swallowing (VFSS-SWAL) score and VSSF aspiration (VFSS-ASPI) score. In each patient, esophageal pressure and complications were also recorded. RESULTS: The CSWAL-QOL score was increased and the VFSS-SWAL and VFSS-ASPI scores were reduced after CAECPM treatment. The upper esophageal sphincter pressure was significantly reduced after CAECPM. Only 1 of 12 (8.3%) patients had subcutaneous and mediastinal emphysema, and 2 patients had gastric regurgitation. CONCLUSION: This exploratory study demonstrates that CAECPM is worth further investigation for dysphagia after stroke. CAECPM may be an effective and safe treatment for sustained dysphagia in stroke patients. Larges and prospective studies are required to validate these results.

Laryngeal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy): A Retrospective Study of 5 Cases.

This study was performed to investigate the clinical manifestations, treatment methods, and prognosis of Rosai-Dorfman disease (RDD) with laryngeal involvement. Five clinical cases of RDD with laryngeal involvement diagnosed between 1986 and 2015 were retrospectively analyzed. The laryngeal lesions of these 5 patients mostly involved the glottis and subglottis, with the main symptoms being a hoarse voice and airway obstruction. In addition, the patients mostly exhibited a unilateral or asymmetric onset that was manifested by a laryngeal submucosal nodular mass. The patients were subjected to a regimen of hormone treatment combined with surgical resection. The median follow-up duration was 101 months (8-384 months). One case was lost, and the remaining 4 subjects are alive with disease. The follow-up examinations revealed that 4 subjects had stable laryngeal conditions, whereas one showed minor progression. RDD with laryngeal involvement is clinically rare and differs considerably from classical RDD in age of onset, gender composition, and extranodal involvement. The regimen of hormone treatment combined with surgical resection can stabilize the patient's general condition and laryngeal lesion. Tracheotomies are recommended for patients with dyspnea. After their conditions stabilize, decannulation can be successfully performed in most cases. This therapeutic regimen generally delivers a good prognosis.

Papillary thyroglossal duct carcinoma: report of nine cases and review of literature.

BACKGROUND: Thyroglossal duct carcinoma (TDCa) is a rare malignancy. Thus, we summarized the clinical characteristics of TDCa to explore the strategy of diagnosis, surgical treatment, and prognosis of patients with papillary TDCa. CASE PRESENTATION: A retrospective study was conducted about the medical records of cases with TDCa. General information including the diagnosis, surgical treatment, and prognosis of patients were obtained and analyzed. A total of 480 patients with thyroglossal duct anomalies were treated in our hospital during 1981 to 2011. Nine patients were identified as papillary TDCa and Sistrunk procedure was performed in these patients. Total thyroidectomy and selected neck dissection were performed in 3 TDCa patients with additional multiple thyroid nodules at presentation, of whom one was diagnosed as papillary thyroid carcinoma and another was found to have lymph node metastases. With a median follow-up of 119 months, all patients were alive with no recurrences or metastases. CONCLUSIONS: Although the incidence of TDCa is very low, early diagnosis and surgical operation of TDCa should be performed as soon as possible. Besides, the pathological examination is the only way to confirm the diagnosis, and surgery, especially Sistrunk's procedure, is the prior choice of the treatments. In the presence of thyroid lesions or cervical lymphadenopathy, total thyroidectomy and neck dissection should be considered.

[Clinical features of primitive neuroectodermal tumor in head and neck].

OBJECTIVE: To review the clinical characteristics, diagnosis and treatments of primitive neuroectodermal tumor (PNET) in head and neck. METHODS: A retrospective review of the medical records for the cases of PNET in head and neck from 2004 to 2014. General clinical information including diagnosis and treatments was obtained and analyzed. A literature review was also conducted. RESULTS: A total of 5 cases diagnosed with PNET were included. Of 5 patients, one patient with lesion in the temporal field was treated with radical resection, followed by radiotherapy, and a 24-month follow-up showed no recurrence. Three patients presented with maxillary, infratemporal fossa or cheek invasion respectively, after diagnosed with pathological examination, one patient received preoperation radiotherapy plus radical resection and postoperative chemotherapy, and the lesions had no obvious progress with follow-up of 106 months; one patient was applied with preoperative chemotherapy plus extensive resection and postoperation radiotherapy, showed recurrence 15 months later, and was lost to follow-up; and another patient underwent chemotherapy plus radiotherapy and extensive resection, presented with pulmonary metastasis 5 months later, and died of brain metastasis within 25 months. One foreign patient presented with tumor involved submaxillary, mouth and tongue, the tumor was reduced obviously after chemotherapy, but he was lost to follow-up after getting home. CONCLUSIONS: PNET in head and neck is rare and the clinical profile of PNET is the presence of occupying and compression. The pathology examination is an only way to confirm the diagnosis of PNET. The combination of excision, radiotherapy and chemotherapy is the treatment choice.

[Surgical management of refractory dysphagia and aspiration].

OBJECTIVE: To explore the methods and results of surgical management for refractory dysphagia and aspiration. METHODS: The clinical data of 24 refractory dysphagia and aspiration patients who accepted surgical management were retrospectively analysed. RESULTS: Twenty-four refractory dysphagia and aspiration patients accepted 26 operations between 2001 and 2014. Of the 26 operations, 17 were cricopharyngeal myectomy (CPM), 6 were scarectomy, 3 were laryngeal-tracheal separation. No severe complications occurred. Assessments of dysphagia were completed in 18 operations before and after operation. Aspiration scores of videofluoroscopic swallowing study (VFSS) were 4.50 [4.00;7.00] vs 2.00 [1.00; 3.25], P = 0.000; swallow dysfunction scroes of VFSS were 5.00 [4.00; 12.00] vs 1.00 [1.50; 10.00], P = 0.001; aspiration scores of fibroptic endoscopic evaluation of swallowing (FEES) were 4.00 [5.00; 7.00] vs 2.00 [1.75; 3.00], P = 0.000. But the surgical results for post radiotherapy dysphagia were not successful (n = 5): aspiration scores of VFSS were 7.00 [6.50; 8.00] vs 6.00 [2.00; 7.50], P = 0.109;swallow dysfunction scroes of VFSS were 12.00 [10.50; 12.00] vs 12.00 [7.50; 12.00], P = 0.180;aspiration scores of FEES were 7.00 [6.50; 8.00] vs 6.00 [2.00; 7.50], P = 0.109. CONCLUSION: Surgical management was effective for refractory dysphagia and aspiration, but the surgical indication selection should be strict.

Endoscopic upper airway evaluation in obstructive sleep apnea: Mueller's maneuver versus simulation of snoring.

PURPOSE: This study aimed to compare fiberoptic nasopharyngoscopy during Mueller's maneuver (FNMM) with fiberoptic nasopharyngoscopy with simulation of snoring (FNSS) for upper airway (UA) assessment in patients with obstructive sleep apnea and hypopnea syndrome. We also investigated the relationship between daytime endoscopic examinations and nocturnal pressure measurements. METHODS: We conducted a prospective, case-series study at Peking Union Medical College Hospital. All patients were evaluated by daytime FNMM and FNSS. The retropalatal and retroglossal regions were continuously video recorded during quiet breathing, FNMM, and FNSS. We calculated the narrowing rate and determined the level of obstruction and pattern of collapse (lateral, anterior-posterior, or concentric). Patients also underwent nocturnal pressure measurements to identify obstruction sites. RESULTS: Ninety-two patients were enrolled. FNMM and FNSS detected retropalatal obstruction in every case. Fifty-six and 38 patients had retroglossal obstruction detected by FNMM and FNSS, respectively. There was diagnostic agreement between FNMM and FNSS in 72 patients when diagnosing retroglossal obstruction, but the patterns of collapse were different using each technique. Pressure measurements showed that lower apnea and hypopnea index (AHI) and the proportion of lower AHI were significantly lower in the isolated retropalatal obstruction group than in the combined obstruction group diagnosed with either FNMM or FNSS (p < 0.01). CONCLUSIONS: Daytime FNMM and FNSS are reliable for evaluating the level of obstruction and pattern of UA collapse, and correlate with sleep study findings. FNSS may provide some different information regarding patterns of collapse and retroglossal obstruction from FNMM. Both techniques are helpful for determining surgical strategies.

[Preliminary research on clinical value of localization of upper airway obstruction with nasopharyngeal airway combined with polysomnography].

OBJECTIVE: To investigate the clinical value of localization of upper airway obstructive site with the method of combination of nasopharyngeal airway and polysomnography (PSG). METHODS: Forty-seven patients diagnosed as obstructive sleep apnea hypopnea syndrome (OSAHS) by PSG were enrolled. Each patient was examined by Somte PSG for the first night, underwent repeated PSG examination with the nasopharyngeal airway in place for the second night and received airway continuous pressure measurements (ApneaGraph) examination for the third night. The standard of treatment success was defined as apnea-hypopnea index (AHI) less than 20/h and a reduction of 50% or more. The patients were divided into success group and failure group. The PSG indices and ApneaGraph data of the two groups were compared. Correlations between AHI with nasopharyngeal airway in place by PSG and lower AHI and constituent ratio of lower obstruction by ApneaGraph were calculated. SPSS 17.0 software was used to analyze the data. RESULTS: Forty-two patients completal three-night examination. With the nasopharyngeal airway in place, AHI, the lowest oxyhemoglobin saturation (LSaO2), average oxyhemoglobin saturation, percent of sleep time with oxyhemoglobin saturation <0.90 (SaO2 < 0.90T%) were improved obviously (P < 0.001). Twenty-nine patients (69.0%) achieved treatment success. There were statistical differences (t = 2.670, P = 0.011; Z = -3.252, P = 0.001 and t = -4.556, P < 0.001) of LSaO2 by PSG, lower AHI and constituent ratio of lower obstruction by ApneaGraph compared success group with failure group. The correlations between AHI with nasopharyngeal airway in place by PSG and lower AHI and constituent ratio of lower obstruction by ApneaGraph were 0.616 (P < 0.001) and 0.526 (P < 0.001). CONCLUSION: The method of combination of nasopharyngeal airway with PSG is a reliable method of localization of upper airway obstructive site and can be used as a simple means to find out if there's any retroglossal obstruction.

GHz high power Yb-doped picosecond fiber laser and supercontinuum generation.

We demonstrated a 97 W all-fiber picosecond master oscillator power amplifier seeding by an actively harmonic mode-locked Yb-doped fiber laser. The laser seed pulse duration was 7.7 ps at a 1.223 GHz repetition rate with a central wavelength of 1062 nm. In addition, by launching the amplified pulses into a 5 m long photonic crystal fiber, we obtained a 41.8 W supercontinuum covering the wavelength from 600 to 1700 nm with a 10 dB bandwidth of 1040 nm.

[Clinical analysis of 14 patients with extraorbital inflammatory myofibroblastic tumor of the head and neck].

OBJECTIVE: To summarize the clinical features of extraorbital inflammatory myofibroblastic tumor (IMT) of the head and neck. METHODS: Fourteen cases of extraorbital IMT treated in recent 20 years were analyzed retrospectively. RESULTS: Of the 14 patients, 9 cases with limited lesion in maxilla (n = 5), mandible (n = 2) or neck (n = 2) underwent local resection, and no recurrences were found after 1.5 to 20.0 years; 3 cases diagnosed as maxillary IMT involved in orbit, hard palate or pterygopalatine fossa received conservative therapy (prednisone, prednisone plus radiotherapy or prednisone plus chemotherapy), and no disease progression was found after 6, 9 or 2 years respectively; and 1 case diagnosed as maxillary IMT involved in orbit and pterygopalatine fossa was confirmed with cervical metastases after two operations and died of brain invasion within 17 months. One patient with localized lesion around the common carotid artery was treated with prednisone and had no disease progression with a 2-year follow-up. CONCLUSIONS: Extraorbital IMT of the head and neck is a rare clinical entity. Pathology examination is required for final diagnosis. Corticosteroid administration may be a choice of treatments, and radical resection should be taken selectively for limited lesions.