Primary lacrimal sac lymphoma: a case-based retrospective study in a Chinese population.

AIM: To determine the clinical characteristics, pathological types, tumor markers, treatments, and outcomes of Chinese patients with primary lacrimal sac lymphoma. METHODS: This case-based retrospective study analyzed 15 Chinese patients with primary lacrimal sac lymphoma. The clinical data collected included gender, age at diagnosis, symptoms, imaging examination results, pathologic diagnosis, pathogen identification, tumor markers, treatments, follow-up, and prognosis. Descriptive statistics were used to characterize the patients. Progression-free survival (PFS) was defined as the time from surgery to the last follow-up, first record of tumor recurrence, or death. RESULTS: There were 7 males and 8 females with unilateral primary lacrimal sac lymphoma in the left eye (n=6) or right eye (n=9). The initial symptom in 13 patients was epiphora, and 2 patients had redness and swelling in the lacrimal sac area. All patients ultimately developed epiphora, and 12 had masses in the lacrimal sac area. Analysis of preoperative plasma tumor markers indicated 14 patients had elevated homocysteine, 9 had elevated ß2-microglobulin, and 2 had elevated lactate dehydrogenase (LDH); 2 patients had elevations of all three markers, and 1 patient had no elevation of any marker. All patients underwent surgical resection and 12 patients received postoperative chemotherapy. The pathological types were DLBCL (n=8), MALT lymphoma (n=5), and NK/T-cell lymphoma, nasal type (n=2). The mean follow-up time was 25.8mo (range: 4-41) and 2 patients died. Seven patients who underwent mass excision combined with dacryocystorhinostomy (DCR) had no postoperative epiphora. Eight patients who only underwent mass excision had varying degrees of postoperative epiphora. Preoperative LDH elevation and NK/T-cell lymphoma, nasal type were associated with poor prognoses. CONCLUSION: Early diagnosis and treatment can lead to a good prognosis for most patients with primary lacrimal sac lymphoma. Mass resection combined with DCR can reduce the occurrence of post-surgical epiphora. The pathology type and tumor marker status are associated with prognosis.

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome.

AIM: To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene. METHODS: Ophthalmological examinations, including slit-lamp biomicroscopy and lacrimal duct probing, and computed tomography dacryocystography (CT-DCG) were performed for all participants. The family pedigree was drawn, genetic features were analyzed, and the genomic DNA of the subjects was extracted. Pathogenic genes were screened via whole exome sequencing (WES) and confirmed using Sanger sequencing. RESULTS: Six patients belonged to this three-generation family, and their clinical manifestations included congenital nasolacrimal duct obstruction, congenital absence of lacrimal puncta and canaliculi, lacrimal fistulae, and limb deformities. This pattern indicates autosomal dominant inheritance. Diagnosis was based on the clinical characteristics of LADD syndrome, which presented in all the patients in this family. A novel frameshift mutation in the FGF10 gene (NM_004465.1), c.234dupC (p.Trp79Leus*15), was identified in all patients via WES. The variant was confirmed by Sanger sequencing and classified as a "pathogenic mutation" according to the American College of Medical Genetics and Genomics (ACMG) variant interpretation guidelines. CONCLUSION: A novel frameshift mutation in the FGF10 gene is found in all patients. This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.

Chinese Herbal Medicine Adjusting Brain Microenvironment via Mediating Central Nervous System Lymphatic Drainage in Alzheimer's Disease.

Due to its complex pathogenesis and lack of effective therapeutic methods, Alzheimer's disease (AD) has become a severe public health problem worldwide. Recent studies have discovered the function of central nervous system lymphatic drainage, which provides a new strategy for the treatment of AD. Chinese herbal medicine (CHM) has been considered as a cure for AD for hundreds of years in China, and its effect on scavenging ß-amyloid protein in the brain of AD patients has been confirmed. In this review, the mechanism of central nervous system lymphatic drainage and the regulatory functions of CHM on correlation factors were briefly summarized. The advances in our understanding regarding the treatment of AD via regulating the central lymphatic system with CHM will promote the clinical application of CHM in AD patients and the discovery of new therapeutic drugs.

[Industrial Emission Characteristics and Control Countermeasures of VOCs in Chinese Rapid Economic Development Areas].

With the rapid development of China's economy, volatile organic compounds (VOCs) as the precursor of smog and ozone are of increasing concern, especially in rapidly developing areas. This paper is a systematic analysis of VOCs emissions and distribution trends in 12 typical industrial sectors, garbage and wastewater treatment plants, comprehensive industrial parks, and residential districts in Beijing-Tianjin-Hebei, Yangtze River Delta, and Pearl River Delta Regions. The results show that pharmacy, rubber producing, as well as paint spraying are the top three industries among the 12 typical industries with the highest average VOCs emission concentrations at 541, 499, and 450 mg·m-3, respectively. By comparison, the average emission concentration of VOCs from the pharmaceutical industry in Yangtze River Delta and Beijing-Tianjin-Hebei Region was, respectively, about 112 and 1.00×103 mg·m-3. The paint spraying industry in the Pearl River Delta region has the highest emission rate with an average concentration of 1.04×103 mg·m-3. The investigation pertaining to the distribution of different VOCs categories indicates that highly toxic aromatics and halogenated hydrocarbons account for the highest emissions in paint spraying and pharmaceutical industries, reaching ratios of 55.99% and 26.57%, respectively. Additionally, among the three major economic zones, the VOCs concentration is the lowest in residential areas and comprehensive industrial parks in the Yangtze River Delta but the highest in the Beijing-Tianjin-Hebei Region, which is consistent with the distribution of industrial emissions in each region. Moreover, the research reveals that VOCs concentration in residential districts experienced a fluctuating reduction from 2002 to 2018. The significant reduction since 2016 suggests that formulated policies, laws and standards, along with the performed techniques have made significant contributions to the control of VOCs.

Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.

AIM: To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi, and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis. METHODS: The members of the three families were recruited. The ophthalmologic examinations in details, including slit-lamp biomicroscope, intraocular pressure and fundus examination, etc. were carried out. All patients were checked with paracentesis of puncta membrane and lacrimal duct probing, as well as the computed tomography-dacryocystography (CT-DCG). Peripheral blood of 14 participants (3 normal) from three families were collected, 4 mL each, for genomic DNA extraction, and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction (PCR) to determine whether there were IGSF3 genetic variation. RESULTS: A total of 14 members from three families were screened for 4 synonymous variants: c.930C>T (p.Pro366=), c.1359T>C (p.Ser709=), c.1797G>A (p.Ser855=), c.1539G>A (p.Ser769=), and 6 missense variants: c.1507G>A (p.Gly759Ser), c.1783T>C (p.Trp851Arg), c.1952G>T (p.Ser 907Ile), c.3120C>G (p.Asp1040Glu), c.3123C>G (p.Asp1041Glu), c.3139_3140insGAC (p.Asp1046_Pro1047insAsp), and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family. CONCLUSION: The same IGSF3 gene mutation c.3139_3140insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.

Diagnosis of lacrimal punctum lesions using optical coherence tomography: a preliminary study.

AIM: To study the imaging characteristics of lacrimal punctum lesion with optical coherence tomography (OCT), and provide imaging basis for the diagnosis and treatment of lacrimal punctum diseases. METHODS: A total of 25 patients (28 eyes) with epiphora and lacrimal puncta lesions were enrolled. Lacrimal puncta lesions included: punctum membrane obstruction in 7 cases (9 eyes), punctum agenesis in 1 case (1 eye), a mass protruded from the punctum in 1 case (1 eye), slit puncta in 1 case (1 eye), peri-puncta mass in 2 cases (2 eyes), chronic dacryocystitis in 4 cases (4 eyes), and primary puncta stenosis in 9 cases (10 eyes; 3 eyes mild, 4 eyes moderate and 3 eyes severe). All patients were examined by slit lamp microscopy and OCT to observe the morphological characteristics of abnormal punctum. RESULTS: Two types of complete membrane obstruction and incomplete membrane obstruction of puncta were observed in OCT images of 7 patients. No lacrimal punctum and lacrimal canalicular cavity were found in 1 case with punctum agenesis. OCT images showed that a narrow lumen remained in the lacrimal puncta in 1 patient with a mass protruded from the punctum. OCT of punctum in a patient with slit punctum after stent placement showed stent and abnormal lacrimal structure. No abnormal intraluminal structure was found in 2 cases of peri-puncta mass after OCT scan, and the lacunar space was narrower than that of the contralateral eye. OCT of puncta in 4 patients with chronic dacryocystitis showed that pus floated in tear with lump-like medium-low reflex. In 9 patients with primary lacrimal puncta stenosis, OCT image could clearly show the changes of puncta lumen in different degrees and shapes. CONCLUSION: OCT is feasible for the examination of pathological punctum, and can provide imaging basis for the diagnosis and treatment of punctum disease.

An electrochemical glutathione biosensor: ubiquinone as a transducer.

In this paper, coenzyme Q10 (Ubiquinone, CoQ10) was used for the first time as a transducer to construct electrochemical biosensor for effectively detecting γ-L-glutamyl-L-cysteinyl-glycine (glutathione, GSH). CoQ10 modified electrode was fabricated by attaching its gel mixed with multi-walled carbon nanotubes (MWNTs)/ionic liquid (IL). In the optimum conditions, based on the increasing of reduction peak current of CoQ10 caused by GSH through voltammetric technology, it was found that the peak current of CoQ10 was linear with the concentration of GSH in the range from 4.0×10(-9) to 2.0×10(-7)mol L(-1) at the pH 7.00, and the limit of detection was 3.2×10(-10)mol L(-1) (S/N=3). The results revealed that this method could be used to determine GSH in actual blood samples with the superiority of excellent selectivity, high stability and sensitivity. The strategy explored here might provide a new pathway to design novel multi-function transducers for detecting GSH, which has unique characteristic and potential application in the fields of sensor and medical diagnosis.

Ocular trauma score in transferred fireworks-related ocular injuries: a case series.

BACKGROUND: Our aim was to review the characteristics of transferred fireworks-related ocular damage and to evaluate the prognostic value of the ocular trauma score (OTS) for these injuries. METHODS: This study included 22 transferred patients (19 male, 3 female; mean age 22.6±14.9 years) (25 eyes). The data were retrospectively reviewed, including the characteristics of the geography, types of fireworks, status of injuries, therapeutic procedures, and the best-corrected visual acuity (BCVA). All the injured eyes were classified using the OTS at the time of the initial examination. RESULTS: Twenty eyes (80%) were in OTS category 1, three eyes (12%) were in OTS category 2, and two eyes (8%) were in OTS category 3. All cases received surgical therapy. Six eyes (24%) were enucleated, four (16%) of which achieved an improvement in their final BCVA. There was a statistically significant improvement in final BCVA between OTS category 1 and the other two OTS categories (p=0.016). CONCLUSION: The aforementioned transferred fireworks-related ocular injury cases occurred mainly in young adults, men and active participants, all of which incurred serious vision loss and blindness. The OTS is quite effective for classifying the status and estimating the prognosis of transferred fireworks-related ocular injuries.

Prediction of protein structural classes by Chou's pseudo amino acid composition: approached using continuous wavelet transform and principal component analysis.

A prior knowledge of protein structural classes can provide useful information about its overall structure, so it is very important for quick and accurate determination of protein structural class with computation method in protein science. One of the key for computation method is accurate protein sample representation. Here, based on the concept of Chou's pseudo-amino acid composition (AAC, Chou, Proteins: structure, function, and genetics, 43:246-255, 2001), a novel method of feature extraction that combined continuous wavelet transform (CWT) with principal component analysis (PCA) was introduced for the prediction of protein structural classes. Firstly, the digital signal was obtained by mapping each amino acid according to various physicochemical properties. Secondly, CWT was utilized to extract new feature vector based on wavelet power spectrum (WPS), which contains more abundant information of sequence order in frequency domain and time domain, and PCA was then used to reorganize the feature vector to decrease information redundancy and computational complexity. Finally, a pseudo-amino acid composition feature vector was further formed to represent primary sequence by coupling AAC vector with a set of new feature vector of WPS in an orthogonal space by PCA. As a showcase, the rigorous jackknife cross-validation test was performed on the working datasets. The results indicated that prediction quality has been improved, and the current approach of protein representation may serve as a useful complementary vehicle in classifying other attributes of proteins, such as enzyme family class, subcellular localization, membrane protein types and protein secondary structure, etc.

Using Chou's amphiphilic pseudo-amino acid composition and support vector machine for prediction of enzyme subfamily classes.

With the rapid increment of protein sequence data, it is indispensable to develop automated and reliable predictive methods for protein function annotation. One approach for facilitating protein function prediction is to classify proteins into functional families from primary sequence. Being the most important group of all proteins, the accurate prediction for enzyme family classes and subfamily classes is closely related to their biological functions. In this paper, for the prediction of enzyme subfamily classes, the Chou's amphiphilic pseudo-amino acid composition [Chou, K.C., 2005. Using amphiphilic pseudo amino acid composition to predict enzyme subfamily classes. Bioinformatics 21, 10-19] has been adopted to represent the protein samples for training the 'one-versus-rest' support vector machine. As a demonstration, the jackknife test was performed on the dataset that contains 2640 oxidoreductase sequences classified into 16 subfamily classes [Chou, K.C., Elrod, D.W., 2003. Prediction of enzyme family classes. J. Proteome Res. 2, 183-190]. The overall accuracy thus obtained was 80.87%. The significant enhancement in the accuracy indicates that the current method might play a complementary role to the exiting methods.