Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities...Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities.PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia.Here,we identified a novel nonsense mutation,c.466G>T,in cilia-and flagella-associated protein 300(CFAP300)resulting in a stop codon(p.Glu156*)through whole-exome sequencing(WES).The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm(IDA)and outer dynein arm(ODA).Bioinformatic programs predicted that the mutation is deleterious.Successful pregnancy was achieved through intracytoplasmic sperm injection(ICSI).Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.展开更多
BACKGROUND Primary ciliary dyskinesia(PCD)is a rare condition characterised by dysmotile,immotile,or absent cilia.As a result of the impairment in respiratory mucociliary clearance,patients with PCD typically develop ...BACKGROUND Primary ciliary dyskinesia(PCD)is a rare condition characterised by dysmotile,immotile,or absent cilia.As a result of the impairment in respiratory mucociliary clearance,patients with PCD typically develop neonatal respiratory distress,nasal congestion,otitis media and recurrent respiratory infections leading to bronchiectasis and structural lung changes.These changes have been shown by chest computed tomography(CT)to develop in infancy and early childhood.Recent development and refinement of radiation-reducing CT techniques have allowed significant radiation dose reductions,with chest CT doses now in the range of chest radiography(CR).AIM To evaluate the efficacy of ultra-low dose CT(ULDCT)chest in identifying pulmonary changes within a PCD paediatric patient cohort.METHODS Paediatric patients with PCD who presented for routine clinical outpatient follow-up within the study period,were eligible for inclusion in the study.ULDCT and CR were performed on these patients and the results compared.Comparison metrics included radiation dose,subjective and objective image quality and disease severity.RESULTS Six paediatric patients(mean age 9 years)underwent clinically indicated ULDCT chest examinations and CR for surveillance of their PCD.The mean effective dose was 0.08±0.02 mSv,a dose that approximates that of a frontal and lateral chest radiograph.The average Brody II score across the entire cohort was 12.92,with excellent interrater reliability and intra-class correlation coefficient(ICC)of 0.98.The average Chrispin-Norman score on CR was 1 with excellent inter-rater reliability and ICC of 0.92.CONCLUSION ULDCT demonstrates superior diagnostic capabilities,minimal radiation dose penalty,and high interobserver reliability in comparison to CR.Thus,we advocate for ULDCT to be the preferred modality for surveillance imaging in paediatric PCD.展开更多
AIM:To investigate the ultrasonographic features of ciliary body mesectodermal leiomyomas(CBL).METHODS:Ultrasonographic data of 18 eyes from 18 patients with histopathologically confirmed CBL were analyzed,covering th...AIM:To investigate the ultrasonographic features of ciliary body mesectodermal leiomyomas(CBL).METHODS:Ultrasonographic data of 18 eyes from 18 patients with histopathologically confirmed CBL were analyzed,covering the period from March 2018 to February 2024.The study included 5 male and 13 female patients,aged 14-64y,with a mean age of 40.11±13.54y.The following ultrasonographic features were evaluated:tumor base diameter,thickness,maximum base diameterto-thickness ratio,shape,internal echogenicity,margin echogenicity,internal echo homogeneity,secondary changes,color Doppler flow imaging(CDFI)findings,and contrast-enhanced ultrasound(CEUS)characteristics.RESULTS:Conventional ultrasound findings of the 18 CBL cases were as follows:1)Tumor size:base diameter of(13.48±4.74)×(11.57±4.00)mm^(2),thickness of 7.70±2.60 mm,and maximum base diameter-to-thickness ratio of 1.77±0.36.2)Shape:14 cases(77.8%)were hemispherical,and 4 cases(22.2%)were irregular.3)Internal echogenicity:the solid component of the tumor was hypoechoic in 16 cases(88.9%)and low-to-medium echogenic in 2 cases(11.1%).4)Margin echogenicity:relatively hyperechoic with a“ring-shaped”margin in 15 cases(83.3%)and isoechoic in 3 cases(16.7%;compared with internal echogenicity).5)Internal echo homogeneity:homogeneous in 11 cases(61.1%)and heterogeneous in 7 cases(38.9%),with 6 cases(33.3%)among the 7 heterogeneous cases exhibiting cystic anechoic areas.6)Secondary retinal detachment was observed in 4 cases(22.2%).CDFI revealed heterogeneous vascularity within the tumors,with blood flow signals ranging from minimal to marked.CEUS was performed in 14 patients:complete contrast agent perfusion was observed in 10 cases(71.4%),and partial perfusion was noted in 4 cases(28.6%).Additionally,8 cases(57.1%)showed a rapid wash-in and slow wash-out pattern,while 6 cases(42.9%)demonstrated a rapid wash-in and rapid wash-out pattern.CONCLUSION:CBL exhibit relatively typical ultrasonographic features,which can provide valuable evidence for the clinical diagnosis and differential diagnosis of intraocular tumors.展开更多
BACKGROUND Primary ciliary dyskinesia(PCD)is an inherited autosomal-recessive disorder of impaired mucociliary clearance characterized by chronic respiratory diseases,otolaryngological diseases,central nervous system ...BACKGROUND Primary ciliary dyskinesia(PCD)is an inherited autosomal-recessive disorder of impaired mucociliary clearance characterized by chronic respiratory diseases,otolaryngological diseases,central nervous system abnormalities,reproductive system abnormalities,and cardiac function abnormalities.General anesthesia in these patients is associated with a higher incidence of respiratory complications than in patients without the disease.CASE SUMMARY A 16-year-old male patient was referred to the emergency room complaining of right ankle pain due to distal tibiofibular fracture.Three years prior,he had been diagnosed with PCD.At that time,he had experienced several episodes of pneumonia,sinusitis,and chronic middle ear infections,for which he underwent surgical interventions.At the current admission,he presented with cough and sputum but no other respiratory symptoms.A chest computed tomography scan revealed centrilobular ground-glass opacities in both lower lobes and a calcified nodule in the left lower lobe.For the surgical procedure and postoperative pain management,combined spinal-epidural anesthesia was employed.The patient’s postoperative pain score was measured by the numerical rating scale(NRS).On the day of surgery,his NRS was 5 points.By the second postoperative day,the NRS score had decreased to 2–3 points.The epidural catheter was removed on the fourth day following the operation.The patient was subsequently discharged no respiratory complications.CONCLUSION We performed combined spinal-epidural anesthesia in a patient with PCD.The patient experienced no additional respiratory complications and was discharged with a low NRS score for pain.展开更多
Objective To observe the activating effect of ciliary neurotrophic factor （CNTF） on astrocyte in vitro. Methods Astrocytes cultured purely from newborn rats. Cerebral cortex was raised in normal and serum deprivatio...Objective To observe the activating effect of ciliary neurotrophic factor （CNTF） on astrocyte in vitro. Methods Astrocytes cultured purely from newborn rats. Cerebral cortex was raised in normal and serum deprivation condition with different concentrations （in ng/ml： 0, 2, 20, or 200） of CNTF. After cultured for 24 h, the shape and the cell cycle of astrocytes were examined by immunocytochemistry and flow cytometer, respectively. Results The immunoactivity of glial fibrillary acidic protein （GFAP） and the nuclear size of astrocytes were increased when CNTF was applied, whether cells were cultured in medium with or without serum. CNTF promoted astrocytes to enter the cell cycle in medium with serum, but had no this effect in medium without serum. Conclusion In medium without serum, astrocytes could differentiate into activated state ceils with CNTF application, but could not proliferate; in medium with serum, astrocytes could proliferate with aid of CNTF.展开更多
AIM: To evaluate the safety and the efficacy of the ultrasound ciliary plasty(UCP) on the intraocular pressure(IOP) control in glaucomatous eyes without previous glaucoma surgery.METHODS: A retrospective study include...AIM: To evaluate the safety and the efficacy of the ultrasound ciliary plasty(UCP) on the intraocular pressure(IOP) control in glaucomatous eyes without previous glaucoma surgery.METHODS: A retrospective study included patients with primary and secondary glaucoma who underwent UCP in Dar Al Shifa Hospital, Kuwait between January 2017 to June 2018. High-intensity focused ultrasound procedures were performed under peribulbar anesthesia using the 2^(nd) generation probe with 8 s duration of each of the 6 shots. Complete ophthalmologic examinations were scheduled pre-treatment, and at 1 d, 1 wk, 1, 3, 6 and 12 mo posttreatment. Primary outcomes were the IOP reduction and success rates at 12 mo, while the secondary outcomes were the occurrence of vision threatening complications and visual acuity.RESULTS: The records of 62 eyes of 62 patients were analyzed with mean age of 63.8 y(67.7% males). There was statistically significant reduction in the mean IOP from 35.2±8.3 mm Hg before treatment to 20.6±8.7 mm Hg at 12^(th) month(P<0.0005) with a mean percentage IOP reduction of 42.3% with significant reduction in the mean number of antiglaucomatous drugs from 3.2±0.4 before treatment to 2.1±1.02 at 12 mo(P<0.0005). Qualified success was achieved in 77.4% of eyes at 12 mo. No major intra-or posttreatment complications were reported.CONCLUSION: Second-generation UCP prove to be effective in reducing IOP in naive glaucoma patients with lower success rates in cases of neovascular and uveitic glaucomas.展开更多
Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely ...Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely affects the patient＇s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.展开更多
A chemically extracted acellular allogeneic nerve graft can reduce postoperative immune rejection, similar to an autologous nerve graft, and can guide neural regeneration. However, it remains poorly understood whether...A chemically extracted acellular allogeneic nerve graft can reduce postoperative immune rejection, similar to an autologous nerve graft, and can guide neural regeneration. However, it remains poorly understood whether a chemically extracted acellular allogeneic nerve graft combined with neurotrophic factors provides a good local environment for neural regeneration. This study investigated the repair of injured rat sciatic nerve using a chemically extracted acellular allogeneic nerve graft combined with ciliary neurotrophic factor. An autologous nerve anastomosis group and a chemical acellular allogeneic nerve bridging group were prepared as controls. At 8 weeks after repair, sciatic functional index, evoked potential amplitude of the soleus muscle, triceps wet weight recovery rate, total number of myelinated nerve fibers and myelin sheath thickness were measured. For these indices, values in the three groups showed the autologous nerve anastomosis group 〉 chemically extracted acellular nerve graft ＋ ciliary neurotrophic factor group 〉 chemical acellular allogeneic nerve bridging group. These results suggest that chemically extracted acellular nerve grafts combined with ciliary neurotrophic factor can repair sciatic nerve defects, and that this repair is inferior to autologous nerve anastomosis, but superior to chemically extracted acellular allogeneic nerve bridging alone.展开更多
In this study, rabbit models of optic nerve injury were reproduced by the clamp method. After modeling, rabbit models were given one injection of 50 ng recombinant human ciliary neurotrophic factor into the vitreous b...In this study, rabbit models of optic nerve injury were reproduced by the clamp method. After modeling, rabbit models were given one injection of 50 ng recombinant human ciliary neurotrophic factor into the vitreous body and/or intragastric injection of 4 g/kg compound light granules containing Radix Angelicae Sinensis and Raidix Paeoniae Alba at 4 days after modeling, once per day for 30 consecutive days. After administration, the animals were sacrificed and the intraorbital optic nerve was harvested. Hematoxylin-eosin staining revealed that the injured optic nerve was thinner and optic nerve fibers were irregular. After treatment with recombinant human ciliary neurotrophic factor, the arrangement of optic nerve fibers was disordered but they were not markedly thinner. After treatment with compound light granules, the arrangement of optic nerve fibers was slightly disordered and their structure was intact. After combined treatment with recombinant human ciliary neurotrophic factor and compound light granules, the arrangement of optic nerve fibers was slightly disordered and the degree of injury was less than after either treatment alone. Results of tensile mechanical testing of the optic nerve showed that the tensile elastic limit strain, elastic limit stress, maximum stress and maximum strain of the injured optic nerve were significantly lower than the normal optic nerve. After treatment with recombinant human ciliary neurotrophic factor and/or compound light granules, the tensile elastic limit strain, elastic limit stress, maximum stress and maximum strain of the injured optic nerve were significantly increased, especially after the combined treatment. These experimental findings indicate that compound light granules and ciliary neurotrophic factor can alleviate optic nerve injury at the histological and biochemical levels, and the combined treatment is more effective than either treatment alone.展开更多
Primary ciliary dyskinesia （PCD） is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs invers...Primary ciliary dyskinesia （PCD） is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.展开更多
Objective:To evaluate the prevalence of primary iris and/or ciliary body cysts in eyes with shallow anterior chamber and their effect on the narrowing of the anterior chamber angle.Methods:Among the general physical c...Objective:To evaluate the prevalence of primary iris and/or ciliary body cysts in eyes with shallow anterior chamber and their effect on the narrowing of the anterior chamber angle.Methods:Among the general physical check-up population,subjects with shallow anterior chambers,as judged by van Herick technique,were recruited for further investigation.Ultrasound biomicroscope(UBM)was used to detect and measure the cysts located in the iris and/or ciliary body,the anterior chamber depth(ACD),the angle opening distance at 500μm(AOD500),and the trabecular-iris angle(TIA).A-scan ultrasonography was used to measure the ocular biometry,including lens thickness,axial length,lens/axial length factor(LAF),and relative lens position(RLP).The effect of the cyst on narrowing the corresponding anterior chamber angle and the entire angle was evaluated by the UBM images,ocular biometry,and gonioscopic grading.The eye with unilateral cyst was compared with the eye without the cyst for further analysis.Results:Among the 727 subjects with shallow anterior chamber,primary iris and ciliary body cysts were detected in 250(34.4%)patients;among them 96(38.4%)patients showed unilateral single cyst,21(8.4%)patients had unilateral double cysts,and 42(16.8%)patients manifested unilateral multiple and multi-quadrants cysts.Plateau iris configuration was found in 140 of 361(38.8%)eyes with cysts.The mean size of total cysts was(0.6547±0.2319)mm.In evaluation of the effect of the cyst size and location on narrowing the corresponding angle to their position,the proportion of the cysts causing corresponding angle narrowing or closure among the cysts larger than 0.8 mm(113/121,93.4%)was found to be significantly higher than that of the cysts smaller than 0.8 mm(373/801,46.6%),and a significant higher proportion was also found in the cysts located at iridociliary sulcus(354/437,81.0%)than in that at the pars plicata(131/484,27.1%).In evaluating the effect of the cyst on the entire anterior chamber angle,the eyes with multiple and multi-quadrants cysts manifested significant narrowing of the entire anterior chamber angle as compared with the eyes without cysts,based on the data analysis in comparison of TIA,AOD500,and gonioscopic grading evaluation.The unilateral single or double cysts in the eyes had no significant effect on narrowing of anterior chamber angle as compared with eyes without cysts.The iris and/or ciliary body cysts did not seem to affect the axial length,ACD,lens thickness,RLP,LAF.Conclusions:The prevalence of primary iris and ciliary body cyst was 34.4%in the subjects with shallow anterior chamber.The cysts larger than 0.8 mm,locating at iridociliary sulcus,or multiple and extensive cysts were inclined to cause the angle narrowing or closure.展开更多
Adenomas of the nonpigmented ciliary epithelium (NPCE) are often clinically indistinguishable from amelanotic malignant melanomas of the ciliary body or metastatic carcinomas. This paper reports a case study of a dist...Adenomas of the nonpigmented ciliary epithelium (NPCE) are often clinically indistinguishable from amelanotic malignant melanomas of the ciliary body or metastatic carcinomas. This paper reports a case study of a distinctive variant of adenoma of the NPCE, which clinically appears as epiretinal membrane in the macular region. Histopathologic studies have revealed this is an adenoma of the NPCE. Identification of this clinic feature is important because it will miss the diagnosis of the adenoma of the NPCE. In this case study, B-scan ultrasonography as well as computerized tomography (CT) has been used to provide help in diagnosing the ciliary body tumor. Because of their anterior location in the ciliary body, partial lamellar sclerou-vectomy is an effective method of treatment.展开更多
AIM： To explore the effect of ciliary neurotrophic factor （CNTF） on retinal ganglion cell （RGC）-5 induced by hydrogen peroxide （H2O2）. METHODS： After cell adherence, RGC-5 culture medium was changed to contai...AIM： To explore the effect of ciliary neurotrophic factor （CNTF） on retinal ganglion cell （RGC）-5 induced by hydrogen peroxide （H2O2）. METHODS： After cell adherence, RGC-5 culture medium was changed to contain different concentrations of H2O2 from 50 to 150 μmol/L at four time points （0.5, 1, 1.5 and 2h） to select the concentration and time point for H2O2 induced model. Two different ways of interventions for injured RGC-5 cells respectively were CNTF as an addition in the culture medium or recombinant lentiviral plasmid carrying CNTF gene transfecting bone mesenchymal stem cells （BMSCs） for co-culture with RGC-5. RESULTS： Compared to the control group, H2O2 led to RGC-5 death closely associated with concentrations and action time of H2O2 and we chose 125 μmol/L and 2h to establish the H2O2-induced model. While CNTF inhibited the loss of RGC-5 cells obviously with a dose-dependent survival rate. Nevertheless two administration routes had different survival rate yet higher rate in recombinant lentiviral plasmid group but there were no statistically significant differences. CONCLUSION： Both the two administration routes of CNTF have effects on RGC-5 cells induced by H2O2. If their own advantages were combined, there may be a better administration route.展开更多
Ciliary neurotrophic factor is the only known neurotrophic factor that can promote differentiation of hippocampal neural progenitor cells to glial cells and neurons in adult rats. This process is similar to spontaneou...Ciliary neurotrophic factor is the only known neurotrophic factor that can promote differentiation of hippocampal neural progenitor cells to glial cells and neurons in adult rats. This process is similar to spontaneous differentiation. Therefore, ciliary neurotrophic factor may be involved in spontaneous differentiation of neural stem cells. To verify this hypothesis, the present study isolated neural progenitor cells from adult male rats and cultured them in vitro. Results showed that when neural progenitor cells were cultured in the absence of mitogen fibroblast growth factor-2 or epidermal growth factor, they underwent spontaneous differentiation into neurons and glial cells. Western blot and immunocytochemical staining showed that exogenous ciliary neurotrophic factor strongly induced adult hippocampal progenitor cells to differentiate into neurons and glial cells. Moreover, passage 4 adult hippocampal progenitor cells expressed high levels of endogenous ciliary neurotrophic factor, and a neutralizing antibody against ciliary neurotrophic factor prevented the spontaneous neuronal and glial differentiation of adult hippocampal progenitor cells. These results suggest that the spontaneous differentiation of adult hippocampal progenitor cells is mediated partially by endogenous ciliary neurotrophic factor.展开更多
AIM:To investigate the effect of electroacupuncture(EA)on the mitochondria-dependent apoptotic signaling pathway in the ciliary muscle of guinea pigs with negative lensinduced myopia(LIM).METHODS:Guinea pigs were rand...AIM:To investigate the effect of electroacupuncture(EA)on the mitochondria-dependent apoptotic signaling pathway in the ciliary muscle of guinea pigs with negative lensinduced myopia(LIM).METHODS:Guinea pigs were randomly divided into normal control(NC)group,LIM group,LIM+SHAM acupoint(LIM+SHAM)group,and LIM+EA group.Animals in the NC group received no intervention,while those in other three groups were covered with-6.0 diopter(D)lenses on right eyes.Meanwhile,animals in the LIM+EA group received EA at Hegu(LI4)combined with Taiyang(EX-HN5)acupoints,while those in the LIM+SHAM group were treated at sham points.After treatments for 1,2,and 4wk,morphological changes in ciliary muscles were observed with hematoxylin and eosin(H&E)staining and nick end labeling(TUNEL),and the expression of the mitochondrial apoptotic signaling pathway-related molecules in ciliary muscles was measured by real-time quantitative polymerase chain reaction(qPCR)and Western blot.Additionally,the adenosine triphosphate(ATP)contents were also determined in ciliary muscles.RESULTS:Axial length increased significantly in the LIM and LIM+SHAM groups and decreased in the LIM+EA group.The ciliary muscle fibers were broken and destroyed in both LIM and LIM+SHAM groups,whereas those in the LIM+EA group improved significantly.TUNEL assay showed the number of apoptotic cells increased in the LIM and LIM+SHAM groups,whereas reduced in the LIM+EA group.ATP contents showed a significant decrease in the LIM and LIM+SHAM groups,whereas increased after EA treatment.Compared with the NC group,the dynamin-related protein 1(DRP1),Caspase3,and apoptotic protease activator 1(APAF1)levels were significantly increased in the LIM group and decreased in the LIM+EA group.CONCLUSION:The results provide evidence of EA inhibiting the development of myopia by regulating the mitochondrial apoptotic signaling pathway.展开更多
·AIM:To compare the ciliary body thickness between eyes with primary angle closure(PAC)and primary angle-closure glaucoma(PACG)with the normal eyes,and to investigate the association between ciliary body thicknes...·AIM:To compare the ciliary body thickness between eyes with primary angle closure(PAC)and primary angle-closure glaucoma(PACG)with the normal eyes,and to investigate the association between ciliary body thickness and ciliary processes situation.·METHODS:In this cross-sectional study,57 patients with PAC/PACG were matched to 57 normal subjects after propensity score matching(PSM)adjusting for age and gender.All subjects underwent conventional ocular examinations and ultrasound biomicroscopy(UBM)examination,among which the patients with PAC/PACG performed the examinations one month after laser peripheral iridotomy(LPI).Quantitative parameters were measured,which included ciliary body thickness at the position of 1 mm posterior to the scleral spur(CBT1),trabecular-ciliary process distance(TCPD)and trabecularciliary process angle(TCA).·RESULTS:Eyes with PAC/PACG presented significantly thinner CBT1,shorter TCPD and smaller TCA(P<0.001)than the normal eyes,both in comparison of the means of four quadrants and in comparisons of each quadrant.After removing images with peripheral anterior synechia(PAS),the same results were also found in comparisons between the two groups.Significant correlations were found between TCPD(R~2=0.537,P<0.001)and TCA(R~2=0.517,P<0.001)with CBT1.·CONCLUSION:Eyes with PAC/PACG have thinner ciliary body thickness and more anteriorly situated ciliary processes.Thinner ciliary body thickness is associated with anterior situation of the ciliary processes.展开更多
Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as wel...Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.展开更多
This paper presents the analysis of two-layer cilia induced flow of Phan-Thien-Tanner(PTT) fluid with thermal and concentration effect.The Phan-Thien-Tanner fluid model has been used in the analogy of mucus present in...This paper presents the analysis of two-layer cilia induced flow of Phan-Thien-Tanner(PTT) fluid with thermal and concentration effect.The Phan-Thien-Tanner fluid model has been used in the analogy of mucus present in the respiratory tract.The two-layer model approach was used due to the Peri Ciliary liquid Layer(PCL) and Airway Ciliary Layer(ACL) present on the epithelium cell in respiratory tract.The mathematical modelling of two-layer flow problem was simplified using long wavelength and small Reynold ’ s number approximation.The resulting differential equation with moving boundary gives exact solution for velocity,temperature and concentration profiles in two layers.The change in pressure has calculated by the results of velocity profile,also the pressure rise was evaluated by the numerical integration of pressure gradient along the channel wall.The impact of physical parameters on pressure rise,velocity,temperature and concentration profile was explained by the graphs.It can be seen from graphs that velocity and temperature profile are maximum in the inner layer of fluid(PCL) and concentration profile is maximum at outer layers of fluid(ACL).展开更多
Ciliary neurotrophic factor has neuroprotective effects mediated through signal transducer and Janus kinase（JAK） 2/activator of transcription 3（STAT3） and phosphatidylinositol 3-kinase（PI3 K）/Akt signaling pathw...Ciliary neurotrophic factor has neuroprotective effects mediated through signal transducer and Janus kinase（JAK） 2/activator of transcription 3（STAT3） and phosphatidylinositol 3-kinase（PI3 K）/Akt signaling pathways.Whether ciliary neurotrophic factor is neuroprotective for glutamate-induced excitotoxicity of dorsal root ganglion neurons is poorly understood.In the present study,the in vitro neuroprotective effects of ciliary neurotrophic factor against glutamate-induced excitotoxicity were determined in a primary culture of dorsal root ganglion neurons from Wistar rat embryos at embryonic day 15.Whether the JAK2/STAT3 and PI3 K/Akt signaling pathways were related to the protective effects of ciliary neurotrophic factor was also determined.Glutamate exposure inhibited neurite outgrowth,cell viability,and growth-associated protein 43 expression and promoted apoptotic neuronal cell death,all of which were reversed by the administration of exogenous ciliary neurotrophic factor.Additionally,preincubation with either JAK2 inhibitor AG490 or PI3 K inhibitor LY294002 blocked the neuroprotective effect of ciliary neurotrophic factor.These data indicate that the two pathways JAK2/STAT3 and PI3 K/Akt play major roles in mediating the in vitro neuroprotective effects of ciliary neurotrophic factor on dorsal root ganglion neurons with glutamate-induced neurotoxicity.展开更多
BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly...BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly in preschool,with an average age of about(10.9±14.4)years old.CCNO is a pathogenic gene that regulates the cell cycle,and its mutation is linked to the uncommon human genetic disorder PCD.Although the prevalence of the CCNO mutation is regarded to be exceptionally low,new reports of this mutation have increased in comparison to prior ones.PCD patients with CCNO are rare,and the incidence rate is no more than 2%in whole PCD patients.CASE SUMMARY Here,we report a case of a young Chinese woman diagnosed with PCD,who was found to carry the CCNO gene by whole exon gene sequencing.In this case,a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth.Chest computed tomography(CT)showed bronchiectasis with infection,and sinus CT showed chronic sinusitis.However,the patient had no visceral transposition and no history of infertility.Under electron microscope,it was found that cilia were short and reduced in number,and no power arm of cilia was observed.Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene,exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation.Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.CONCLUSION The results showed that CCNO is an important cause of PCD.More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced.Furthermore,the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.展开更多
基金supported by the China Postdoctoral Science Foundation Grant(2023M734294)Jiangsu Provincial Medical Key Discipline Cultivation Unit(JSDW202215)the National Natural Science Foundation of China(No.82001618).
文摘Primary ciliary dyskinesia(PCD)is a clinically rare,genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections,male infertility,tympanitis,and laterality abnormalities.PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia.Here,we identified a novel nonsense mutation,c.466G>T,in cilia-and flagella-associated protein 300(CFAP300)resulting in a stop codon(p.Glu156*)through whole-exome sequencing(WES).The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm(IDA)and outer dynein arm(ODA).Bioinformatic programs predicted that the mutation is deleterious.Successful pregnancy was achieved through intracytoplasmic sperm injection(ICSI).Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.
文摘BACKGROUND Primary ciliary dyskinesia(PCD)is a rare condition characterised by dysmotile,immotile,or absent cilia.As a result of the impairment in respiratory mucociliary clearance,patients with PCD typically develop neonatal respiratory distress,nasal congestion,otitis media and recurrent respiratory infections leading to bronchiectasis and structural lung changes.These changes have been shown by chest computed tomography(CT)to develop in infancy and early childhood.Recent development and refinement of radiation-reducing CT techniques have allowed significant radiation dose reductions,with chest CT doses now in the range of chest radiography(CR).AIM To evaluate the efficacy of ultra-low dose CT(ULDCT)chest in identifying pulmonary changes within a PCD paediatric patient cohort.METHODS Paediatric patients with PCD who presented for routine clinical outpatient follow-up within the study period,were eligible for inclusion in the study.ULDCT and CR were performed on these patients and the results compared.Comparison metrics included radiation dose,subjective and objective image quality and disease severity.RESULTS Six paediatric patients(mean age 9 years)underwent clinically indicated ULDCT chest examinations and CR for surveillance of their PCD.The mean effective dose was 0.08±0.02 mSv,a dose that approximates that of a frontal and lateral chest radiograph.The average Brody II score across the entire cohort was 12.92,with excellent interrater reliability and intra-class correlation coefficient(ICC)of 0.98.The average Chrispin-Norman score on CR was 1 with excellent inter-rater reliability and ICC of 0.92.CONCLUSION ULDCT demonstrates superior diagnostic capabilities,minimal radiation dose penalty,and high interobserver reliability in comparison to CR.Thus,we advocate for ULDCT to be the preferred modality for surveillance imaging in paediatric PCD.
基金Supported by National Key R&D Program of China(No.2018YFC0116000).
文摘AIM:To investigate the ultrasonographic features of ciliary body mesectodermal leiomyomas(CBL).METHODS:Ultrasonographic data of 18 eyes from 18 patients with histopathologically confirmed CBL were analyzed,covering the period from March 2018 to February 2024.The study included 5 male and 13 female patients,aged 14-64y,with a mean age of 40.11±13.54y.The following ultrasonographic features were evaluated:tumor base diameter,thickness,maximum base diameterto-thickness ratio,shape,internal echogenicity,margin echogenicity,internal echo homogeneity,secondary changes,color Doppler flow imaging(CDFI)findings,and contrast-enhanced ultrasound(CEUS)characteristics.RESULTS:Conventional ultrasound findings of the 18 CBL cases were as follows:1)Tumor size:base diameter of(13.48±4.74)×(11.57±4.00)mm^(2),thickness of 7.70±2.60 mm,and maximum base diameter-to-thickness ratio of 1.77±0.36.2)Shape:14 cases(77.8%)were hemispherical,and 4 cases(22.2%)were irregular.3)Internal echogenicity:the solid component of the tumor was hypoechoic in 16 cases(88.9%)and low-to-medium echogenic in 2 cases(11.1%).4)Margin echogenicity:relatively hyperechoic with a“ring-shaped”margin in 15 cases(83.3%)and isoechoic in 3 cases(16.7%;compared with internal echogenicity).5)Internal echo homogeneity:homogeneous in 11 cases(61.1%)and heterogeneous in 7 cases(38.9%),with 6 cases(33.3%)among the 7 heterogeneous cases exhibiting cystic anechoic areas.6)Secondary retinal detachment was observed in 4 cases(22.2%).CDFI revealed heterogeneous vascularity within the tumors,with blood flow signals ranging from minimal to marked.CEUS was performed in 14 patients:complete contrast agent perfusion was observed in 10 cases(71.4%),and partial perfusion was noted in 4 cases(28.6%).Additionally,8 cases(57.1%)showed a rapid wash-in and slow wash-out pattern,while 6 cases(42.9%)demonstrated a rapid wash-in and rapid wash-out pattern.CONCLUSION:CBL exhibit relatively typical ultrasonographic features,which can provide valuable evidence for the clinical diagnosis and differential diagnosis of intraocular tumors.
文摘BACKGROUND Primary ciliary dyskinesia(PCD)is an inherited autosomal-recessive disorder of impaired mucociliary clearance characterized by chronic respiratory diseases,otolaryngological diseases,central nervous system abnormalities,reproductive system abnormalities,and cardiac function abnormalities.General anesthesia in these patients is associated with a higher incidence of respiratory complications than in patients without the disease.CASE SUMMARY A 16-year-old male patient was referred to the emergency room complaining of right ankle pain due to distal tibiofibular fracture.Three years prior,he had been diagnosed with PCD.At that time,he had experienced several episodes of pneumonia,sinusitis,and chronic middle ear infections,for which he underwent surgical interventions.At the current admission,he presented with cough and sputum but no other respiratory symptoms.A chest computed tomography scan revealed centrilobular ground-glass opacities in both lower lobes and a calcified nodule in the left lower lobe.For the surgical procedure and postoperative pain management,combined spinal-epidural anesthesia was employed.The patient’s postoperative pain score was measured by the numerical rating scale(NRS).On the day of surgery,his NRS was 5 points.By the second postoperative day,the NRS score had decreased to 2–3 points.The epidural catheter was removed on the fourth day following the operation.The patient was subsequently discharged no respiratory complications.CONCLUSION We performed combined spinal-epidural anesthesia in a patient with PCD.The patient experienced no additional respiratory complications and was discharged with a low NRS score for pain.
文摘Objective To observe the activating effect of ciliary neurotrophic factor （CNTF） on astrocyte in vitro. Methods Astrocytes cultured purely from newborn rats. Cerebral cortex was raised in normal and serum deprivation condition with different concentrations （in ng/ml： 0, 2, 20, or 200） of CNTF. After cultured for 24 h, the shape and the cell cycle of astrocytes were examined by immunocytochemistry and flow cytometer, respectively. Results The immunoactivity of glial fibrillary acidic protein （GFAP） and the nuclear size of astrocytes were increased when CNTF was applied, whether cells were cultured in medium with or without serum. CNTF promoted astrocytes to enter the cell cycle in medium with serum, but had no this effect in medium without serum. Conclusion In medium without serum, astrocytes could differentiate into activated state ceils with CNTF application, but could not proliferate; in medium with serum, astrocytes could proliferate with aid of CNTF.
文摘AIM: To evaluate the safety and the efficacy of the ultrasound ciliary plasty(UCP) on the intraocular pressure(IOP) control in glaucomatous eyes without previous glaucoma surgery.METHODS: A retrospective study included patients with primary and secondary glaucoma who underwent UCP in Dar Al Shifa Hospital, Kuwait between January 2017 to June 2018. High-intensity focused ultrasound procedures were performed under peribulbar anesthesia using the 2^(nd) generation probe with 8 s duration of each of the 6 shots. Complete ophthalmologic examinations were scheduled pre-treatment, and at 1 d, 1 wk, 1, 3, 6 and 12 mo posttreatment. Primary outcomes were the IOP reduction and success rates at 12 mo, while the secondary outcomes were the occurrence of vision threatening complications and visual acuity.RESULTS: The records of 62 eyes of 62 patients were analyzed with mean age of 63.8 y(67.7% males). There was statistically significant reduction in the mean IOP from 35.2±8.3 mm Hg before treatment to 20.6±8.7 mm Hg at 12^(th) month(P<0.0005) with a mean percentage IOP reduction of 42.3% with significant reduction in the mean number of antiglaucomatous drugs from 3.2±0.4 before treatment to 2.1±1.02 at 12 mo(P<0.0005). Qualified success was achieved in 77.4% of eyes at 12 mo. No major intra-or posttreatment complications were reported.CONCLUSION: Second-generation UCP prove to be effective in reducing IOP in naive glaucoma patients with lower success rates in cases of neovascular and uveitic glaucomas.
文摘Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely affects the patient＇s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.
文摘A chemically extracted acellular allogeneic nerve graft can reduce postoperative immune rejection, similar to an autologous nerve graft, and can guide neural regeneration. However, it remains poorly understood whether a chemically extracted acellular allogeneic nerve graft combined with neurotrophic factors provides a good local environment for neural regeneration. This study investigated the repair of injured rat sciatic nerve using a chemically extracted acellular allogeneic nerve graft combined with ciliary neurotrophic factor. An autologous nerve anastomosis group and a chemical acellular allogeneic nerve bridging group were prepared as controls. At 8 weeks after repair, sciatic functional index, evoked potential amplitude of the soleus muscle, triceps wet weight recovery rate, total number of myelinated nerve fibers and myelin sheath thickness were measured. For these indices, values in the three groups showed the autologous nerve anastomosis group 〉 chemically extracted acellular nerve graft ＋ ciliary neurotrophic factor group 〉 chemical acellular allogeneic nerve bridging group. These results suggest that chemically extracted acellular nerve grafts combined with ciliary neurotrophic factor can repair sciatic nerve defects, and that this repair is inferior to autologous nerve anastomosis, but superior to chemically extracted acellular allogeneic nerve bridging alone.
文摘In this study, rabbit models of optic nerve injury were reproduced by the clamp method. After modeling, rabbit models were given one injection of 50 ng recombinant human ciliary neurotrophic factor into the vitreous body and/or intragastric injection of 4 g/kg compound light granules containing Radix Angelicae Sinensis and Raidix Paeoniae Alba at 4 days after modeling, once per day for 30 consecutive days. After administration, the animals were sacrificed and the intraorbital optic nerve was harvested. Hematoxylin-eosin staining revealed that the injured optic nerve was thinner and optic nerve fibers were irregular. After treatment with recombinant human ciliary neurotrophic factor, the arrangement of optic nerve fibers was disordered but they were not markedly thinner. After treatment with compound light granules, the arrangement of optic nerve fibers was slightly disordered and their structure was intact. After combined treatment with recombinant human ciliary neurotrophic factor and compound light granules, the arrangement of optic nerve fibers was slightly disordered and the degree of injury was less than after either treatment alone. Results of tensile mechanical testing of the optic nerve showed that the tensile elastic limit strain, elastic limit stress, maximum stress and maximum strain of the injured optic nerve were significantly lower than the normal optic nerve. After treatment with recombinant human ciliary neurotrophic factor and/or compound light granules, the tensile elastic limit strain, elastic limit stress, maximum stress and maximum strain of the injured optic nerve were significantly increased, especially after the combined treatment. These experimental findings indicate that compound light granules and ciliary neurotrophic factor can alleviate optic nerve injury at the histological and biochemical levels, and the combined treatment is more effective than either treatment alone.
文摘Primary ciliary dyskinesia （PCD） is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.
基金Project(No.2012KYA107)supported by the Health Bureau of Zhejiang Province,China
文摘Objective:To evaluate the prevalence of primary iris and/or ciliary body cysts in eyes with shallow anterior chamber and their effect on the narrowing of the anterior chamber angle.Methods:Among the general physical check-up population,subjects with shallow anterior chambers,as judged by van Herick technique,were recruited for further investigation.Ultrasound biomicroscope(UBM)was used to detect and measure the cysts located in the iris and/or ciliary body,the anterior chamber depth(ACD),the angle opening distance at 500μm(AOD500),and the trabecular-iris angle(TIA).A-scan ultrasonography was used to measure the ocular biometry,including lens thickness,axial length,lens/axial length factor(LAF),and relative lens position(RLP).The effect of the cyst on narrowing the corresponding anterior chamber angle and the entire angle was evaluated by the UBM images,ocular biometry,and gonioscopic grading.The eye with unilateral cyst was compared with the eye without the cyst for further analysis.Results:Among the 727 subjects with shallow anterior chamber,primary iris and ciliary body cysts were detected in 250(34.4%)patients;among them 96(38.4%)patients showed unilateral single cyst,21(8.4%)patients had unilateral double cysts,and 42(16.8%)patients manifested unilateral multiple and multi-quadrants cysts.Plateau iris configuration was found in 140 of 361(38.8%)eyes with cysts.The mean size of total cysts was(0.6547±0.2319)mm.In evaluation of the effect of the cyst size and location on narrowing the corresponding angle to their position,the proportion of the cysts causing corresponding angle narrowing or closure among the cysts larger than 0.8 mm(113/121,93.4%)was found to be significantly higher than that of the cysts smaller than 0.8 mm(373/801,46.6%),and a significant higher proportion was also found in the cysts located at iridociliary sulcus(354/437,81.0%)than in that at the pars plicata(131/484,27.1%).In evaluating the effect of the cyst on the entire anterior chamber angle,the eyes with multiple and multi-quadrants cysts manifested significant narrowing of the entire anterior chamber angle as compared with the eyes without cysts,based on the data analysis in comparison of TIA,AOD500,and gonioscopic grading evaluation.The unilateral single or double cysts in the eyes had no significant effect on narrowing of anterior chamber angle as compared with eyes without cysts.The iris and/or ciliary body cysts did not seem to affect the axial length,ACD,lens thickness,RLP,LAF.Conclusions:The prevalence of primary iris and ciliary body cyst was 34.4%in the subjects with shallow anterior chamber.The cysts larger than 0.8 mm,locating at iridociliary sulcus,or multiple and extensive cysts were inclined to cause the angle narrowing or closure.
基金Project (No. 20010510) supported by the Ministry of Education of Zhejiang Province, China
文摘Adenomas of the nonpigmented ciliary epithelium (NPCE) are often clinically indistinguishable from amelanotic malignant melanomas of the ciliary body or metastatic carcinomas. This paper reports a case study of a distinctive variant of adenoma of the NPCE, which clinically appears as epiretinal membrane in the macular region. Histopathologic studies have revealed this is an adenoma of the NPCE. Identification of this clinic feature is important because it will miss the diagnosis of the adenoma of the NPCE. In this case study, B-scan ultrasonography as well as computerized tomography (CT) has been used to provide help in diagnosing the ciliary body tumor. Because of their anterior location in the ciliary body, partial lamellar sclerou-vectomy is an effective method of treatment.
基金Supported by Ph.D.Programs Foundation of Ministry of Education of China(No.20130141120052)
文摘AIM： To explore the effect of ciliary neurotrophic factor （CNTF） on retinal ganglion cell （RGC）-5 induced by hydrogen peroxide （H2O2）. METHODS： After cell adherence, RGC-5 culture medium was changed to contain different concentrations of H2O2 from 50 to 150 μmol/L at four time points （0.5, 1, 1.5 and 2h） to select the concentration and time point for H2O2 induced model. Two different ways of interventions for injured RGC-5 cells respectively were CNTF as an addition in the culture medium or recombinant lentiviral plasmid carrying CNTF gene transfecting bone mesenchymal stem cells （BMSCs） for co-culture with RGC-5. RESULTS： Compared to the control group, H2O2 led to RGC-5 death closely associated with concentrations and action time of H2O2 and we chose 125 μmol/L and 2h to establish the H2O2-induced model. While CNTF inhibited the loss of RGC-5 cells obviously with a dose-dependent survival rate. Nevertheless two administration routes had different survival rate yet higher rate in recombinant lentiviral plasmid group but there were no statistically significant differences. CONCLUSION： Both the two administration routes of CNTF have effects on RGC-5 cells induced by H2O2. If their own advantages were combined, there may be a better administration route.
基金supported by the National Natural Science Foundation of China,No. 30770754
文摘Ciliary neurotrophic factor is the only known neurotrophic factor that can promote differentiation of hippocampal neural progenitor cells to glial cells and neurons in adult rats. This process is similar to spontaneous differentiation. Therefore, ciliary neurotrophic factor may be involved in spontaneous differentiation of neural stem cells. To verify this hypothesis, the present study isolated neural progenitor cells from adult male rats and cultured them in vitro. Results showed that when neural progenitor cells were cultured in the absence of mitogen fibroblast growth factor-2 or epidermal growth factor, they underwent spontaneous differentiation into neurons and glial cells. Western blot and immunocytochemical staining showed that exogenous ciliary neurotrophic factor strongly induced adult hippocampal progenitor cells to differentiate into neurons and glial cells. Moreover, passage 4 adult hippocampal progenitor cells expressed high levels of endogenous ciliary neurotrophic factor, and a neutralizing antibody against ciliary neurotrophic factor prevented the spontaneous neuronal and glial differentiation of adult hippocampal progenitor cells. These results suggest that the spontaneous differentiation of adult hippocampal progenitor cells is mediated partially by endogenous ciliary neurotrophic factor.
基金Supported by National Key R&D Program of China(No.2021YFC2702103,No.2021YFC2702100)the National Natural Science Foundation of China(No.82104937)the Key R&D Program of Shandong Province(No.2019GSF108252).
文摘AIM:To investigate the effect of electroacupuncture(EA)on the mitochondria-dependent apoptotic signaling pathway in the ciliary muscle of guinea pigs with negative lensinduced myopia(LIM).METHODS:Guinea pigs were randomly divided into normal control(NC)group,LIM group,LIM+SHAM acupoint(LIM+SHAM)group,and LIM+EA group.Animals in the NC group received no intervention,while those in other three groups were covered with-6.0 diopter(D)lenses on right eyes.Meanwhile,animals in the LIM+EA group received EA at Hegu(LI4)combined with Taiyang(EX-HN5)acupoints,while those in the LIM+SHAM group were treated at sham points.After treatments for 1,2,and 4wk,morphological changes in ciliary muscles were observed with hematoxylin and eosin(H&E)staining and nick end labeling(TUNEL),and the expression of the mitochondrial apoptotic signaling pathway-related molecules in ciliary muscles was measured by real-time quantitative polymerase chain reaction(qPCR)and Western blot.Additionally,the adenosine triphosphate(ATP)contents were also determined in ciliary muscles.RESULTS:Axial length increased significantly in the LIM and LIM+SHAM groups and decreased in the LIM+EA group.The ciliary muscle fibers were broken and destroyed in both LIM and LIM+SHAM groups,whereas those in the LIM+EA group improved significantly.TUNEL assay showed the number of apoptotic cells increased in the LIM and LIM+SHAM groups,whereas reduced in the LIM+EA group.ATP contents showed a significant decrease in the LIM and LIM+SHAM groups,whereas increased after EA treatment.Compared with the NC group,the dynamin-related protein 1(DRP1),Caspase3,and apoptotic protease activator 1(APAF1)levels were significantly increased in the LIM group and decreased in the LIM+EA group.CONCLUSION:The results provide evidence of EA inhibiting the development of myopia by regulating the mitochondrial apoptotic signaling pathway.
文摘·AIM:To compare the ciliary body thickness between eyes with primary angle closure(PAC)and primary angle-closure glaucoma(PACG)with the normal eyes,and to investigate the association between ciliary body thickness and ciliary processes situation.·METHODS:In this cross-sectional study,57 patients with PAC/PACG were matched to 57 normal subjects after propensity score matching(PSM)adjusting for age and gender.All subjects underwent conventional ocular examinations and ultrasound biomicroscopy(UBM)examination,among which the patients with PAC/PACG performed the examinations one month after laser peripheral iridotomy(LPI).Quantitative parameters were measured,which included ciliary body thickness at the position of 1 mm posterior to the scleral spur(CBT1),trabecular-ciliary process distance(TCPD)and trabecularciliary process angle(TCA).·RESULTS:Eyes with PAC/PACG presented significantly thinner CBT1,shorter TCPD and smaller TCA(P<0.001)than the normal eyes,both in comparison of the means of four quadrants and in comparisons of each quadrant.After removing images with peripheral anterior synechia(PAS),the same results were also found in comparisons between the two groups.Significant correlations were found between TCPD(R~2=0.537,P<0.001)and TCA(R~2=0.517,P<0.001)with CBT1.·CONCLUSION:Eyes with PAC/PACG have thinner ciliary body thickness and more anteriorly situated ciliary processes.Thinner ciliary body thickness is associated with anterior situation of the ciliary processes.
文摘Although the triad of bronchiectasis, sinusitis and situs inversus was first described by Kartagener in 1933, the clinical spectrum of primary ciliary dyskinesia is still under investigation. Heterotaxy defects as well as upper and lower respiratory tract symptoms are the main manifestations in childhood. It is now recognized that situs inversus is encountered in only half of patients. The first lower respiratory symptoms may be present from infancy as neonatal respiratory distress. The most common lower airway manifestations are chronic wet cough, recurrent pneumonia and therapy resistant wheezing. Patients are at risk of developing bronchiectasis which may even be the presenting finding due to delayed diagnosis. Upper respiratory tract infections such as nasal congestion, nasal drainage and recurrent sinusitis as well as otologic manifestations such as otitis media or otorrhea with conductive hearing loss are also often encountered. It seems that the type of ciliary ultrastructure defects and the involved mutated genes are associated to some extent to the clinical profile. The disease, even in nowadays, is not recognized at an early age and the primary care clinician should have knowledge of its clinical spectrum in order to select appropriately the children who need further investigation for the diagnosis of this disorder.
文摘This paper presents the analysis of two-layer cilia induced flow of Phan-Thien-Tanner(PTT) fluid with thermal and concentration effect.The Phan-Thien-Tanner fluid model has been used in the analogy of mucus present in the respiratory tract.The two-layer model approach was used due to the Peri Ciliary liquid Layer(PCL) and Airway Ciliary Layer(ACL) present on the epithelium cell in respiratory tract.The mathematical modelling of two-layer flow problem was simplified using long wavelength and small Reynold ’ s number approximation.The resulting differential equation with moving boundary gives exact solution for velocity,temperature and concentration profiles in two layers.The change in pressure has calculated by the results of velocity profile,also the pressure rise was evaluated by the numerical integration of pressure gradient along the channel wall.The impact of physical parameters on pressure rise,velocity,temperature and concentration profile was explained by the graphs.It can be seen from graphs that velocity and temperature profile are maximum in the inner layer of fluid(PCL) and concentration profile is maximum at outer layers of fluid(ACL).
基金supported by the Natural Science Foundation of Shandong Province of China,No.ZR2014HQ065a grant from the Medical Science and Technology Development Project of Shandong Province of China,No.2015WS0445
文摘Ciliary neurotrophic factor has neuroprotective effects mediated through signal transducer and Janus kinase（JAK） 2/activator of transcription 3（STAT3） and phosphatidylinositol 3-kinase（PI3 K）/Akt signaling pathways.Whether ciliary neurotrophic factor is neuroprotective for glutamate-induced excitotoxicity of dorsal root ganglion neurons is poorly understood.In the present study,the in vitro neuroprotective effects of ciliary neurotrophic factor against glutamate-induced excitotoxicity were determined in a primary culture of dorsal root ganglion neurons from Wistar rat embryos at embryonic day 15.Whether the JAK2/STAT3 and PI3 K/Akt signaling pathways were related to the protective effects of ciliary neurotrophic factor was also determined.Glutamate exposure inhibited neurite outgrowth,cell viability,and growth-associated protein 43 expression and promoted apoptotic neuronal cell death,all of which were reversed by the administration of exogenous ciliary neurotrophic factor.Additionally,preincubation with either JAK2 inhibitor AG490 or PI3 K inhibitor LY294002 blocked the neuroprotective effect of ciliary neurotrophic factor.These data indicate that the two pathways JAK2/STAT3 and PI3 K/Akt play major roles in mediating the in vitro neuroprotective effects of ciliary neurotrophic factor on dorsal root ganglion neurons with glutamate-induced neurotoxicity.
文摘BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly in preschool,with an average age of about(10.9±14.4)years old.CCNO is a pathogenic gene that regulates the cell cycle,and its mutation is linked to the uncommon human genetic disorder PCD.Although the prevalence of the CCNO mutation is regarded to be exceptionally low,new reports of this mutation have increased in comparison to prior ones.PCD patients with CCNO are rare,and the incidence rate is no more than 2%in whole PCD patients.CASE SUMMARY Here,we report a case of a young Chinese woman diagnosed with PCD,who was found to carry the CCNO gene by whole exon gene sequencing.In this case,a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth.Chest computed tomography(CT)showed bronchiectasis with infection,and sinus CT showed chronic sinusitis.However,the patient had no visceral transposition and no history of infertility.Under electron microscope,it was found that cilia were short and reduced in number,and no power arm of cilia was observed.Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene,exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation.Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.CONCLUSION The results showed that CCNO is an important cause of PCD.More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced.Furthermore,the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.
