Retinal microstructure and developmental characteristics in Zebrafish / 解剖学报

Objective To study the microscopic structure and morphological characteristics of Zebrafish eyeball and retina at different developmental stages, and to lay a foundation for visual research model. Methods Select eight groups of zebrafish at different ages, with six fish in each group, 48 fish in total. Optical microscopy and transmission electron microscopy were used to observe the eyeball structure of Zebrafish at different developmental stages, and the thickness of retinal each layer was measured to analyze the temporal and spatial development pattern. The morphological characteristics of various cells in the retina and the way of nerve connection were observed from the microscopic and ultrastructural aspects, especially the structural differences between rod cells and cone cells. Results The retina of Zebrafish can be divided into ten layers including retinal pigment epithelial layer, rod cells and cone cells layer, outer limiting membrane, outer nuclear layer, outer plexiform layer, inner nuclear layer, inner plexiform layer, ganglion cell layer, nerve fiber layer, inner limiting membrane. Rod cells had a smaller nucleus and a higher electron density than cone cells. Photoreceptor terminals were neatly arranged in the outer plexiform layer, forming neural connections with horizontal cells and bipolar cells, and several synaptic ribbons are clearly visible within them. In Zebrafish retina, ganglion cell layer and inner plexiform layer are the earliest developed. With the growth and development of Zebrafish, the thickness of rod cells and cone cells layer and retinal pigment epithelial layer gradually increases, and the retinal structure was basically developed in about 10 weeks. Conclusion The retinal structure of Zebrafish is typical, with obvious stratification and highly differentiated nerve cells. There are abundant neural connections in the outer plexiform layer. The ocular development characteristics of Zebrafish are similar to those of most mammals.

Enfermedades crónicas no transmisibles en pacientes y familias con retinosis pigmentaria

Fundamento: la retinosis pigmentaria, enfermedad ocular de origen genético y baja prevalencia, progresa lentamente en años hacia el deterioro visual severo y afecta el desempeño social. En el Servicio de Oftalmología del Hospital Docente Clínico Quirúrgico Dr. Salvador Allende, existe un protocolo asistencial institucional que incluye la atención sistemática e integral de los afectados. Objetivo: identificar las enfermedades crónicas no transmisibles en pacientes con retinosis pigmentaria y en sus familiares. Métodos: estudio descriptivo, prospectivo, realizado entre marzo 2016-marzo 2022, con muestreo no probabilístico e intencionado. Se seleccionaron pacientes y familias registradas en la base de datos del servicio, residentes en los municipios Cerro y Plaza, en La Habana. Resultados: de 145 personas estudiadas (74 enfermos de retinosis pigmentaria y 71 familiares), 138 (95,1 %) presentaban enfermedades crónicas no transmisibles, entre las que se destacan la hipertensión arterial (29,7 %), la diabetes mellitus (21,0 %) y la asociación de ambas (13,0 %). En la dispensarización comunitaria se incluyen en el Grupo 4 las personas con déficit visual y además en otros grupos de dispensarización para atender mejor los factores de riesgo y enfermedades crónicas no transmisibles halladas en ellos. Conclusiones: la identificación de las enfermedades crónicas no transmisibles fue útil, para desplegar una atención médica holística e interdisciplinaria que facilite la prevención de enfermedades y complicaciones, permita preservar la visión, optimizar la rehabilitación visual y la calidad de vida. Se recomienda aplicar atento cuidado y mejorar la educación sanitaria en pacientes con retinosis pigmentaria.

Background: retinitis pigmentosa, an ocular disease of genetic origin and low prevalence, slowly progresses over years towards severe visual impairment and affects social performance. In the Ophthalmology Service of the Dr. Salvador Allende Clinical Surgical Teaching Hospital, there is an institutional care protocol that includes systematic and comprehensive care for those affected. Objective: to identify chronic non-communicable diseases in patients with retinitis pigmentosa and their relatives. Methods: descriptive, prospective study carried out between March 2016-March 2022, with non-probabilistic and intentional sampling. Patients and families registered in the service's database, residing in the Cerro and Plaza municipalities, in Havana, were selected. Results: of 145 people studied (74 patients with retinitis pigmentosa and 71 relatives), 138 (95.1%) had non-communicable chronic diseases, among which arterial hypertension (29.7%), diabetes mellitus (21 0.0%) and the association of both (13.0%). In community dispensing, people with visual impairment are included in Group 4 and also in other dispensing groups to better attend to the risk factors and chronic non-communicable diseases found in them. Conclusions: the identification of chronic non-communicable diseases was useful to deploy holistic and interdisciplinary medical care that facilitates the prevention of diseases and complications, preserves vision, optimizes visual rehabilitation and quality of life. It is recommended to apply attentive care and improve health education in patients with retinitis pigmentosa.

Prescribing patterns of low vision devices in patients with cone-related dystrophies

Purpose: The aim of this study was to elucidate the type of low vision devices (LVDs) prescribed for patients with cone dystrophy, cone–rod dystrophy, and rod–cone dystrophy and to analyze the visual improvement with the devices. Methods: A retrospective review of 300 electronic medical records of patients with cone dystrophy, cone–rod dystrophy, and rod–cone dystrophy referred to the low vision care (LVC) clinic for the first time between 2014 and 2016 at a tertiary eye care center was done. Collected data included the demographic profile of patients, details of LVDs, and best?corrected vision. Results: Out of 300 patients, 62.6% (n = 188) were male and 37.3% (n = 112) were female. Of the cases, 50% (n = 150) had cone–rod dystrophy, 45% (n = 135) had cone dystrophy, and 5% (n = 15) had rod–cone dystrophy. The most commonly prescribed LVD was SEE?TV binocular telescope (n = 6, 2.0%) for distance and dome magnifier (n = 60, 20%) for near. ET?40 dark grey tint (20.6%) was preferred for managing photophobia. There was a statistically significant difference in both distance and near visual acuities with LVDs (P < 0.05) in all categories, except rod–cone dystrophy. Conclusion: Early diagnosis with appropriate prescription of LVDs including tints helps in achieving good quality of vision in patients with cone?related dystrophies.

Biomechanical Study on Atlantoaxial Dislocation Combined with Basilar Invagination by Different Posterior Internal Fixation Methods / 医用生物力学

Objective To investigate biomechanical differences of two posterior occipitocervical internal fixation techniques for treating basilar invagination with atlantoaxial dislocation (BI-AAD). Methods Intra-articular cage + posterior occipital plate+C2 pedicle screw (Cage+C2PS+OP), and intra-articular cage+C1 lateral mass screw+C2PS (Cage+C1LMS+C2PS) models were established based on occipitocervical CT data of the BI-AAD and clinical operation scheme, and the stability of atlantoaxial joint and stress distribution characteristics of C2 endplate and implanted instruments under different motion states were analyzed. Results Compared with the Cage+C1LMS+C2PS model, the atlantoaxial range of motion ( ROM) under flexion, extension, lateral bending and axial rotation in the Cage+C2PS+OP model were reduced by 5. 26% , 33. 33% , 43. 75% , -5. 56% , and stress peak of screw-rod fixation system were reduced by 47. 81% , 60. 90% , 48. 45% , 39. 14% , respectively. Under two internal fixation modes, stresses of C2 endplate and cage were mainly distributed on the compressive side during the motion, and both the screw-bone interface and the caudal side of screw subjected to large loading. Conclusions Two internal fixation methods could provide similar stability. However, the stress concentration of screw-rod system was more obvious and the possibility of screw loosening and fracture was greater under Cage+ C1LMS+C2PS fixation.

Analysis of the ocular clinical features and pathogenic genes in patients with Alstr?m syndrome / 中华眼底病杂志

Objective:To observe and analyze the ocular clinical features and pathogenic genes of Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. From October 2020 to July 2022, 3 patients and 5 normal family members from 2 families affected with ALMS who visited in the Ophthalmology Department of Henan Children's Hospital were enrolled in the study. These 2 families were without blood relationship. The medical history and family history were inquired. Best corrected visual acuity (BCVA), fundus color photography, full-field electroretinogram (ERG), frequency domain optical coherence tomography (OCT) and systemic examination were performed. 3 ml peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. The second generation sequencing analysis was performed on these members. The suspected pathogenic mutation sites were verified by Sanger, and the pathogenicity of the gene mutation sites were determined by bioinformatics analysis.Results:Three patients from two families all developed nystagmus and photophobia in infancy. In the family 1, the BCVA of both eyes of the proband was no light perception. The fundus examination revealed vascular attenuation and retinal pigment abnormality. OCT showed retinal thinning, loss of photoreceptor layer and atrophy of the retinal pigment epithelium layer. ERG examination showed extinguished. The BCVA of the proband’s younger brother was 0.04 in the right eye and 0.02 in the left eye. The fundus examination revealed vascular attenuation but the pigment distribution was roughly normal. OCT showed blurred photoreceptor layers in both eyes. ERG examination showed extinguished. Two patients developed sensorineural deafness, obesity, acanthosis nigricans, insulin resistance/diabetes, and abnormal liver function. In addition, the proband also had left heart enlargement, hyperlipidemia and abnormal kidney function. The results of genetic testing showed that the proband and his younger brother had compound heterozygous mutations in exon 8 (c.1894C>T/p.Gln632*, M1) and exon 10 (c.9148_9149delCT/p.Leu 3050 Leufs*9, M2) of ALMS1, which were both known mutations. The father of the proband was a carrier of M1 and the mother of the proband was a carrier of M2. The proband of the family 2 had a normal fundus at 23 months old. The amplitude of ERG b wave under the stimulation of the dark adaptation 0.01 and a, b wave under the stimulation of dark adaptation 0.3 were all mild reduced. The amplitude of ERG a, b wave under the stimulation of the light adaptation 0.3 was severity decreased. At 4 years old, the BCVA was 0.01 in the right eye and 0.05 in the left eye. The fundus examination revealed vascular attenuation and bilateral blunted foveal reflex. In addition to severely diminished of a, b wave under the stimulation of dark adaptation 0.3, the rest showed extinguished. There were no systemic abnormalities. The results of genetic testing showed that the proband had compound heterozygous mutations in exon 11 (c.9627delT/p.Pro3210Glnfs*22, M3) and exon 5 (c.1089delT/p.Asp364Ilefs*13, M4) of ALMS1, which were both novel mutations. The father of the proband was a carrier of M3 and the mother of the proband was a carrier of M4. Conclusions:Nystagmus and photophobia are often the first clinical manifestations of ALMS. In the early stage, the fundus can be basically normal. As the disease progresses, the fundus examination reveals vascular attenuation and retinal pigment abnormality, and the reflection of the fovea is unclear. OCT shows the photoreceptor cell layers are blurred or even lost. The final ERG is extinguished. M1, M2, and M3, M4 compound heterozygous mutations may be the pathogeny for family 1 and family 2, respectively.

Conception and features of bacillary layer detachment / 中华实验眼科杂志

The separation of outer retinal photoreceptors in patients with toxoplasmosis chorioretinitis was first named bacillary layer detachment (BALAD), which was manifested as a split at the level of the photoreceptor inner segment myoid creating a distinctive intraretinal cavity in optical coherence tomography.Subsequently BALAD has been reported by many researchers in different diseases.In the outer retina, the myoid is a relatively weak structure in photoreceptor inner segment.When the outward force that promotes the attachment of the photoreceptor outer segment to the retinal pigment epithelium exceeds the tensile strength of the photoreceptor inner segment myoid, the myoid zone splits and BALAD occurs.BALAD has its unique multimodal imaging characteristics, and the identification of it can provide a new idea for the diagnosis, detection and treatment of ocular diseases.This paper reviewed the development of BALAD nomenclature, its anatomical structure, pathophysiological mechanism and multimodal image features.

Bilateral frontalis sling for surgical correction of unilateral and bilateral severe congenital ptosis with poor levator function

Objective@#This study evaluated the functional and cosmetic outcomes after bilateral frontalis sling repair using either expanded polytetrafluoroethylene (ePTFE) or silicone rod for unilateral or bilateral severe congenital ptosis with poor levator function.@*Methods@#This was a non-comparative, interventional case series involving 30 patients with unilateral or bilateral severe congenital ptosis who underwent bilateral frontalis sling repair from February 2012 to November 2018. Medical records including pre- and postoperative photographs were reviewed. The functional and cosmetic outcomes were assessed.@*Results@#There were 15 patients with severe congenital ptosis who underwent ePTFE surgery and 15 patients who had silicone rod surgery. Baseline levator function measured was less than 5 mm in all patients. The mean follow-up duration after surgery was 15.6+6.9 months. Satisfactory eyelid contour was observed in all patients (100%). Postoperatively, all had good to excellent primary eyelid position and effective frontalis action on eyelid elevation. Complications included exposure of the silicone sling material after trauma at the brow area (n=1) and recurrence of ptosis (n=2).@*Conclusion@#Bilateral frontalis suspension in patients with severe congenital ptosis, whether bilateral or unilateral, resulted in excellent functional and cosmetic outcomes using ePTFE or silicone rod.

An ethnographic approach to understand cultural perspectives of tribes on branding practice for sick children in Odisha, India

Background & objectives: Traditional beliefs on child healthcare at time lead to potentially harmful practices like branding. However, there is a gap in people’s perceptions, attitudes and beliefs about branding practice. Therefore, the present study was undertaken to document the cultural motivation, ability and opportunity for branding practice in a tribal district of Odisha, India. Methods: Initially, such practices were observed in the tribal community for three months. Then, 18 in-depth interviews were conducted - ten among women having under-five children, and eight among traditional healers. Six focus group discussions were conducted with community health workers as well. The responses were digitally recorded, transcribed and translated and were further used for thematic framework analysis. Results: The primary determinants of branding practice were cultural beliefs compounded with low-health literacy, proximity to conventional care and influence of family and friends. The key driver for branding practices was traditional cultural beliefs on child healthcare decisions and health-seeking behaviours. Opportunities in the health system – availability and quality of health services – frequently drive them to seek healthcare from the system structure and routine health communication improves their ability to make better healthcare decisions. Interpretation & conclusions: Culture significantly affects the conceptualisation of illness and care-seeking pathways in a society. The indigenous community used to consult local traditional healers for their health concerns. While the government has made efforts to increase community health literacy through various platforms and multiple stakeholders’ engagements, the doorstep availability of modern care and health promotion interventions remains critical for meeting the health needs of the indigenous community.

Effect of temperature and chain length of added primary amines on the sphere to rod transition of aqueous ionic micelles

The importance of micelles as templates for nanomaterials is growing day by day. This resulted in an increasing interest for micelles in different sizes and shapes. Addition of n-amines to micellar solutions was found to bring change in the shape of the micelles from sphere to rod in aqueous ionic micellar solutions. The change in shape is qualitatively obtained from sudden change in the slope of pH versus amine concentration plots because the degree or protonation of n-alkylamines depends on the shape of micelles. In the present investigation, pH is measured at different temperatures to elucidate the influence of addition of n-amines on sphere-to-rod transition in aqueous micellar solutions. The surfactants employed in the present investigation are cetyltrimethyl ammonium bromide (CTAB), cetylpyridinium chloride (CPC), and sodium dodecyl sulphate (SDS).As the amine concentration is increased, the pH increases linearly at certain amine concentration and the slope of the resulting straight line changes on further addition of amine. It is noticed that increasing temperature requires more amine for structural transition of aqueous ionic micelles. It is also observed that the effectiveness of added amines leading to shape transition from sphere to rod is in the order of C8NH2>C7NH2> C6NH2.

Auer rod?like inclusions in multiple myeloma: Report of two diagnostically challenging cases

Non-immunoglobulin intracytoplasmic inclusions in plasma cells of multiple myeloma are very rare presentation. These are morphologically similar to Auer rods but chemically different from them. We studied two cases of multiple myeloma in a 60-year-old woman and 45-year-old man. In both cases, plasma cells of bone marrow aspirate revealed multiple Auer rod-like inclusions (ARLI). Sudan black B (SBB) and myeloperoxidase (MPO) cytochemistry were negative. Serum protein electrophoresis in both of them showed M spike, one with raised IgA-kappa levels, while the other with raised IgG-kappa levels. Very few case reports have been published in the literature and its prognostic implications are still unknown. Due to its rarity, it is important to distinguish such cases from acute myeloid leukemia and its exact incidence with its therapeutic and prognostic implications

Cone-rod dystrophy associated with novel variations on CDHR1 and C2orf71 gene / 中华眼底病杂志

Objective:To observe and analyze the gene mutation and clinical phenotype of patients with cone and rod dystrophy (CORD).Methods:A pedigree investigarion. Two CORD pedigrees including 2 patients and 6 family members were enrolled in Ningxia Eye Hospital of People' Hospital of Ningxia Hui Automous Region for this study. The patients were from 2 unrelated families, all of whom were probands. Take medical history with best-corrected visual acuity (BCVA), color vision, slit lamp microscopy, indirect ophthalmoscopy, fundus color photography, optical coherence tomography (OCT), autofluorescence (AF), fluorescein fundus angiography (FFA), electroretinogram (ERG). The peripheral venous blood of patients and their parents was collected, whole genome DNA was extracted, Trio whole genome exome sequencing was performed, Sanger verification and pedigree co-segregation were performed for suspected pathogenic mutation sites. According to the law of inheritance, family history was analyzed to establish its genetic type. Mutational loci pathogenicity was analyzed according to the American College of Medical Genetics (ACMG) guidelines and 4 online tools.Results:Two CORD families showed autosomal recessive inheritance. The proband of pedigree 1 was female, 49 years old. Binocular vision loss with photophobia lasted for 9 years and night blindness for 4 years. The BCVA of right eye and left eye were 0.03 and 0.06, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The proband of pedigree 2 was male, 30 years old. Vision loss in both eyes for 4 years. Denying a history of night blindness. The BCVA of right eye and left eye were 0.3 and 0.2, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The color of optic disc in both eyes was light red, the macular area was atrophic, the foveal reflection disappeared, and the peripheral retina was punctate pigmentation. The main fundus changes in 2 patients were macular atrophy. The proband of pedigree 1 carried compound heterozygous variations c.439-2A>G (M1) and c.676delT (p.F226fs) (M2) on CDHR1 gene. Her father and mother carried M2 and M1 heterozygous mutations, respectively. The proband of pedigree 2 carried compound heterozygous variations c.2665dupC (p.L889fs) (M3) and c.878T>C (p.L293P) (M4) on C2orf71 gene. His father and mother carried M4 and M3 heterozygous mutations, respectively. According to ACMG guidelines and on line tools, 4 variations were considered as pathogenic level. Conclusions:M1 and M2 of CDHR1 gene and M3 and M4 of C2orf71 gene are new pathogenic mutations of CORD. All patients presented with the clinical phenotype of decreased visual acuity and macular atrophy.

Genotypes and phenotypes analysis of a novel complex heterozygous mutation of CEP290 related isolated cone-rod dystrophy / 中华眼底病杂志

Objective:The clinical phenotypes and pathogenicity of isolated cone-rod dystrophy (CORD) caused by two novel complex heterozygous variants of the CEP290 gene were analyzed using high-resolution multi-mode imaging and gene detection techniques. Methods:A retrospective study. Two patients and two family members from a CORD family who were diagnosed by genetic testing at Henan Provincial People's Hospital in December 2021 were included in the study. All subjects underwent best-corrected visual acuity (BCVA), color fundus photography, autofluorescence, swept-source optical coherence tomography (SS-OCT), adaptive optics fundus imaging, static threshold field, full field and multiple electroretinogram (ERG) examination, as well as other systemic examinations throughout the body. The peripheral venous blood of the subjects was collected, and the whole genome DNA was extracted. DNA sequencing was performed using the Inherited Retinal Disease Kit PS400, and Sanger verification and pedigree co-segregation analysis were performed on the suspected pathogenic mutation sites. Validation was performed by Sanger sequencing, pathogenicity analysis was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Conservation of variation among different species was analyzed by GERP++, Clustal Omega and Weblogo.Results:Both patients were male, and their ages were 21 and 29 years old, respectively. The right eye and left eye about BCVAs were 0.7, 0.4 and 0.3, 0.4, respectively. The full field and multiple electroretinogram ERG showed a decreased function of cones and rods, especially cones. SS-OCT showed thinning of the outer nuclear layer of macular, and attenuation of ellipsoid zone reflectivity in B-scan. Adaptive optics fundus imaging examination showed that the arrangement of cone cells in the fovea of the fovea was disordered and the density decreased, and the retinal pigment epithelial cells were seen through the atrophy of cone cells in some areas at 10°visual angle. No obvious abnormality was found in other systemic examinations of the whole body. Genetic testing showed that 2 novel compound heterozygous variants c.950T >A (p.Leu317*) (M1) and c.4144_4149del (p.Tyr1382_Glu1383del) (M2) in CEP290 were found in two patients. The first variant was predicted to be harmful in MutationTaster and CADD. GERP++ showed highly conserved among different species. The pathogenicity of the variant was suspected to be likely pathogenic according to ACMG guidelines. The pathogenicity of the second variant was uncertain significance. The parents of the proband had no similar ocular abnormalities. Verified by Sanger sequencing, it was consistent with co-separation in the family. Conclusions:Patients with pure CORD caused by CEP290 gene mutation still retain better vision when the cone structure is abnormal, the density is decreased, and the function of cone and rod cells is decreased. CEP290 M1 and M2 are newly discovered nonsense mutations and newly discovered deletion mutations, which expanded the causative gene spectrum of pure CORD.

Antimicrobial and physicochemical characterization of Lactobacillus brevis biofilms as biopreservative agents

Aims@#Lactic acid bacteria (LAB) biofilms constitute one of the most remarkable breakthroughs in the field of food biopreservatives and can be employed to prevent foodborne disease. The purposes of this study were to investigate the efficacy of inhibitory LAB biofilms against foodborne pathogens and evaluate their tolerance to acidic pH and bile salts, as well as their physicochemical properties.@*Methodology and results@#Four strains of Lactobacillus brevis biofilms isolated from kimchi showed antipathogenic activity to the bacteria Staphylococcus aureus FNCC 0049 and Escherichia coli FNCC 0091. These biofilms were also tolerant to pH 2.5, 0.3% bile salt and strong adhesion. Two of the four L. brevis biofilms (L. brevis biofilm KA2 and KB1) produced the highest inhibitory activity against both pathogenic bacterial indicators, tolerance to acidic pH and bile salts, and the strongest adhesion. In addition, based on Scanning Electron Microscope-Energy Dispersion X-ray Spectroscopy (SEM-EDS) analysis, both biofilm strains had a smooth surface texture; the cell morphology was rod-shaped and consisted of several elements such as carbon, oxygen and nitrogen, which was built up of extracellular polymeric substances (EPS).@*Conclusion, significance and impact of study@#The presence of EPS as a constituent of LAB biofilms influenced their survival abilities in an acidic pH and bile salt environment. As a result, the characteristics of L. brevis biofilm KA2 and KB1 made them excellent candidates for use as antimicrobial packaging systems in food biopreservative applications.

Biomechanical Analysis on Different Methods of Growing Rod Fixation for Early Onset Scoliosis / 医用生物力学

Objective To study the effects of selecting different fixing segments on biomechanical characteristics of the spine during the treatment of early onset scoliosis（EOS） by growing rod technique. Methods By using finite element method, four spine models (C6-S1 segments) fixed by growing rod were established: preoperative model, T1-L4 fixed model, T2-L4 fixed model, T3-L4 fixed model. Then 7 N·m torque load and 1 rad angular displacement load were applied on superior surface of C6 segment to analyze biomechanical characteristics for adjacent structure of the fixed vertebral body. Results The whole spinal range of motion (ROM) decreased significantly after operation. When the T2-L4 segment was fixed, the spine activity was mostly restricted, the compensatory activity of adjacent vertebrae increased significantly, and the intervertebral disc stress increased significantly. Conclusions When T2 segment is selected as the upper instrumented segment, the risk of proximal junctional kyphosis and spinal degeneration is the highest, which should be avoided in clinical surgery.

Spectrum analysis of gene mutations in retinitis pigmentosa and cone-rod dystrophy / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To analyze the gene mutation spectrum of autosomal recessive retinitis pigmentosa(ARRP)pedigrees and cone-rod dystrophy(CORD)pedigrees in Ningxia region of China. <p>METHODS:Totally 35 ARRP pedigrees and 18 CORD pedigrees were included in Ningxia Eye Hospital from September 2016 to February 2020. Peripheral venous blood samples of the proband were collected for targeted capture enrichment and high-throughput sequencing using a genetic retinal disease capture chip that contain 232 pathogenic genes. Online analysis software was used to predict the pathogenicity of suspicious gene variation, and Sanger sequencing was used to analyze the co-segregation of the family members. <p>RESULTS: Totally 16 pathogenic genes were confirmed in 35 ARRP pedigrees, the mutations rate of RP1 gene was the highest, accounting for 14%(5/35), following were ABCA4, CRB1 and EYS gene, accounted for 11%(4/35); 18 CORD pedigrees carried 10 pathogenic genes. The mutation rate of ABCA4 gene was the highest, accounting for 28%(5/18), followed by ALMS1, PROM1, RPE65, USH2A gene, accounting for 11%(2/18). There were 5 co-exist disease-causing genes in ARRP and CORD pedigrees, which were ABCA4, CLN3, CRB1, PROM1, NRL, accounting for 42%(22/53).<p>CONCLUSION: There are similarities and crossover in the phenotype of ARRP and CORD. The pathogenic genes were overlaped. The most common overlaping gene between the two diseases is ABCA4.

Direct reduction and repair of spondylolysis with grade 1 slip using the smiley face rod: a case report / Journal of Rural Medicine

Objective: Lumbar spondylolysis, caused by stress fracture of the pars interarticularis may lead to a bony defect or spondylolisthesis. In adolescents, its surgical treatment employs the smiley face rod method for direct reduction of pseudoarthrotic spondylolysis and spondylolisthesis. Clinical outcomes of this treatment have been occasionally described; however, implant removal has not been discussed previously. We present a patient with lumbar spondylolysis with grade 1 slip at the 5th lumbar vertebra (L5) per the Meyerding classification.Patient: A 14-year-old boy presented with chronic severe lower back pain. Since conservative therapy did not resolve pain or enable resuming sports activities, the smiley face rod repair was performed 7 months after the initial treatment.Result: Anterior slippage of the L5 was surgically reduced. The patient wore a brace for 3 months postoperatively, and partial bone fusion was noted 6 months postoperatively. He resumed his sports activity 8 months postoperatively, and absolute bone fusion was confirmed 18 months postoperatively. Implant removal was performed 3 years postoperatively. Grade 1 slip was corrected with absolute bone fusion, and long-term follow-up revealed good results in terms of healing and rehabilitation.Conclusion: Smiley face rod method that allows for implant removal after bone fusion is suitable for adolescents.

Design and application of fulcrum screws for atlantoaxial dislocation / 中国组织工程研究

BACKGROUND: Atlantoaxial dislocation often needs surgery for reduction, and posterior screw-rod fixation fusion is the most commonly used surgery. However, the current screw-rod fixation system often increases the reduction effect by increasing the degree of curvature of connecting rod, causing great difficulty of placing rod, which increases the probability of spinal cord injury. OBJECTIVE: To evaluate the preliminary results of fulcrum screws for atlantoaxial dislocation. METHODS: From January 2017 to December 2018,11 patients with atlantoaxial dislocation were selected from General Hospital of Southern Theater Command of PLA, including 4 males and 7 females, at the age of 8-51 years. All patients were treated with posterior screw-rod fixation fusion: Conventional posterior cervical screws were implanted on both sides of the atlas and pivot screws were implanted on both sides of the axis. Atlantodental interval and Japanese Orthopaedic Association scores were recorded before and after operation. Patients were followed up and underwent X-ray and CT to estimate reduction, fixation and bone graft fusion. This study was approved by the Ethics Committee of General Hospital of Southern Theater Command of PLA. RESULTS AND CONCLUSION: (1) Eleven patients underwent operations successfully without vertebral artery or spinal nerve injury. (2) All patients were followed up for 3-12 months, with an average of 6 months. The symptoms of neck pain and neurological dysfunction were improved in varying degrees. All patients obtained atlantoaxial bone fusion, with an average fusion time of 6 months. (3) At postoperative 1 week, X-ray and CT images showed that atlantoaxial reduction was satisfactory and internal fixation was in good position. (4) Atlantodental interval reduced from preoperatively (6.8±1.5) mm to postoperatively (2.4±0.9) mm (f=17.854, P=0.000). Japanese Orthopaedic Association score increased from preoperatively (14.1±1.3) to postoperatively (15.9±0.9) (f=-10, P=0.000). (5) No complication occurred during follow-up, without recurrence or dislocation. (6) These results showed that using fulcrum screw in posterior screw-rod fixation fusion has an effective reduction for treating atlantoaxial dislocation and its preliminary clinical effects are satisfactory.

Biomechanical characteristics of bridge-link type combined internal fixation system with mixed-rod versus double-rod in the treatment of femoral and Tibial fractures / 中国组织工程研究

BACKGROUND: The double-rod of bridge-link type combined internal fixation system belongs to eccentric fixation, which may lead to the weakening of longitudinal fixation and the decrease of transverse anti-torsion after operation. OBJECTIVE: To compare the biomechanical characteristics of bridge-link type combined internal fixation system with mixed-rod and double-rod in the treatment of femoral and tibial fractures. METHODS: Twenty human long bone diaphysis models were made by 40 short polyformaldehyde materials. Of these, 10 were fixed by mixed-rod, and the rest with bridge-link type combined internal fixation system. Axial compression tests and radial torsion tests were carried out (five models were selected from each group). The changes of axial compression forces and displacements and transverse torque and angle were observed. The maximum load was recorded when the curve had a break point or in a horizontal state, and then the yield load was calculated. RESULTS AND CONCLUSION: (1) When the axial compression load was

Absorbable rod or titanium alloy screws for Mason type II radial head fractures / 中国组织工程研究

BACKGROUND: At present, open reduction and internal fixation is an effective method for the treatment of Mason type II radial head fracture. The selection of internal fixation includes screws, micro plates, Kirschner wires, absorbable rods or nails. The clinical efficacy reported is inconsistent. OBJECTIVE: To compare the clinical efficacy of titanium alloy screws or absorbable rod for the internal fixation of Mason type II radial head fractures. METHODS: Totally 25 patients with radial head fractures were collected from January 2016 to February 2017 in Sichuan Provincial People’s Hospital, including 16 males and 9 females, at the age of 38-61 years. All patients received open reduction and internal fixation. Of them, 13 cases received titanium alloy screws, and 12 cases received absorbable rod. X-ray images were obtained during follow-up to identify fracture healing time. During the final follow-up, visual analogue score, elbow motion range, Mayo elbow joint function score and Broberg-Morrey scores were compared between the two groups. The study was approved by the Ethics Committee of Sichuan Provincial People’s Hospital Sichuan Academy of Medical Sciences. RESULTS AND CONCLUSION:(1) There was no significant difference in fracture healing time between the absorbable rod group(2.35±0.92 months) and titanium alloy screw group(2.10± 0.47 months)(P > 0.05).(2) In the final follow-up, there was no significant difference in Mayo elbow joint function score and Broberg-Morrey scores between the two groups(P > 0.05).(3) In the final follow-up, there was no significant difference in elbow flexion, extension, supination, and pronation angle between the two groups(P > 0.05).(4) In the final follow-up, there was no significant difference in visual analogue score between the two groups(P > 0.05).(5) These results indicate that the absorbable rod and titanium alloy screws can obtain satisfactory treatment outcomes for Mason type II radial head fractures. However, the absorbable rod can avoid the secondary operation for removing internal fixators, and the adverse impact of stress shielding.

Nano-hydroxyapatite/polyamide 66 support rod combined with bone allograft for the treatment of ARCO stage III osteonecrosis of the femoral head / 中国组织工程研究

BACKGROUND: It remains controversial whether patients with ARCO stage III osteonecrosis of the femoral head should be treated with femoreal head preserving surgery, and what the clinical efficacy of femoreal head preserving surgery is. OBJECTIVE: To investigate the clinical efficacy of nano-hydroxyapatite/polyamide 66 support rod combined with bone allograft in the treatment of ARCO stage III osteonecrosis of the femoral head METHODS: From March 2017 to September 2018, 36 patients (32 male and 4 female, 16-58 years old) with ARCO state III osteonecrosis of the femoral head who received treatment in Aviation General Hospital were included in this study. Among these patients, three had bilateral osteonecrosis of the femoral head and 33 had unilateral osteonecrosis of the femoral head. According to ARCO classification, 35 hips fell into stage IIIA, 3 hips in stage IIIB, and 1 hip in stage IIIC. All included paitents underwent nano-hydroxyapatite/polyamide 66 support rod combined with bone allograft. Postoperative follow up was performed. Hip joint function was evaluated using Harris hip score. The degree of collapse of the femoral head was evaluated using X-ray imaging. The osteogenesis in the necrotic area was determined by CT scans. This study was approved by Aviation General Hospital Ethics Committee (Ethics code: HK2019-01-04). RESULTS AND CONCLUSION: (1) Thirty-six patients were followed up for (19.28±6.51) months. At the last follow-up, 4 hips ultimately underwent total hip arthroplasty with the success rate of 89.7%(35/39). (2) Harris hip score revealed that at the last follow-up, the excellent and good rate of hip function was significantly higher than that before surgery (71.8%,17.5%, P=0.000). (3) Last follow-up CT scans revealed obvious osteogenesis was observed in 26 of 35 hips at ARCO stage IIIA and it was observed in neither 3 hips at ARCO stage IIIB nor in 1 hip at ARCO stage IIIC. (4) At the last follow-up, X-ray showed that there was progress in 5 of the 35 hips (IIIA), 3 of which progressed to ARCO stage IIIB, 2 to ARCO stage IV, and the remaining 30 hips were stable without progression; three hips in ARCO stage IIIB progressed, including 2 progressed to ARCO stage IIIC and 1 to ARCO stage IV; 1 hip in ARCOIIIC stage progressed to ARCO stage IV. The results suggest that nano-hydroxyapatite/polyamide 66 support rod combined with bone allograft has a good effect on the treatment of ARCO stage III osteonecrosis of the femoral head.