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1.
Anesthesiology ; 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38758221

RESUMEN

BACKGROUND: Preventing emergence delirium is a clinical goal for pediatric anesthesia, yet there is no consensus on its prevention. This study investigated the hypothesis that a continuous infusion or a single bolus of remimazolam can reduce the incidence of emergence delirium in children. METHODS: A hundred and twenty children aged 1-6 years old were randomly and equally allocated into three groups: group RC, which received a continuous infusion of remimazolam at 1 mg kg -1 h -1; group RB, which received a single bolus of remimazolam at 0.2 mg kg -1 at the beginning of wound closure; and group C, which received a continuous infusion of saline at 1 mL kg -1 h -1 and single bolus of saline at 0.2 mL kg -1 at the beginning of sutures. The primary outcome was the incidence of emergence delirium assessed by pediatric anesthesia emergence delirium (PAED) scale. Secondary outcomes included the number of rescues propofol administrations in the post-anesthesia care unit (PACU), recovery time, end-tidal sevoflurane concentration when maintaining BIS within the range of 40-60, and adverse events. RESULTS: The incidence of emergence delirium in group RC (5%, vs. group C, risk ratio, 0.14; 95% CI, 0.04 to 0.59; P=0.001) and group RB (7.7%, vs. group C, risk ratio, 0.22; 95% CI, 0.07 to 0.71; P=0.003) was significantly lower compared with group C (32.5%). Propofol was given to 2 patients in each of groups RC and RB to treat delirium and to 10 patients in group C (group RC vs. group C, risk ratio, 0.20; 95% CI, 0.05 to 0.86; P=0.012; group RB vs. group C, risk ratio, 0.21; 95% CI, 0.05 to 0.88; P=0.014). No differences in the recovery time and adverse effects were detected. CONCLUSIONS: Both continuous infusion and single bolus administration of remimazolam can effectively reduce the occurrence of emergence delirium in children.

2.
Nat Commun ; 15(1): 3650, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38688925

RESUMEN

Utilization of digital technologies for cataract screening in primary care is a potential solution for addressing the dilemma between the growing aging population and unequally distributed resources. Here, we propose a digital technology-driven hierarchical screening (DH screening) pattern implemented in China to promote the equity and accessibility of healthcare. It consists of home-based mobile artificial intelligence (AI) screening, community-based AI diagnosis, and referral to hospitals. We utilize decision-analytic Markov models to evaluate the cost-effectiveness and cost-utility of different cataract screening strategies (no screening, telescreening, AI screening and DH screening). A simulated cohort of 100,000 individuals from age 50 is built through a total of 30 1-year Markov cycles. The primary outcomes are incremental cost-effectiveness ratio and incremental cost-utility ratio. The results show that DH screening dominates no screening, telescreening and AI screening in urban and rural China. Annual DH screening emerges as the most economically effective strategy with 341 (338 to 344) and 1326 (1312 to 1340) years of blindness avoided compared with telescreening, and 37 (35 to 39) and 140 (131 to 148) years compared with AI screening in urban and rural settings, respectively. The findings remain robust across all sensitivity analyses conducted. Here, we report that DH screening is cost-effective in urban and rural China, and the annual screening proves to be the most cost-effective option, providing an economic rationale for policymakers promoting public eye health in low- and middle-income countries.


Asunto(s)
Catarata , Análisis Costo-Beneficio , Tamizaje Masivo , Humanos , China/epidemiología , Catarata/economía , Catarata/diagnóstico , Catarata/epidemiología , Persona de Mediana Edad , Tamizaje Masivo/economía , Tamizaje Masivo/métodos , Masculino , Tecnología Digital/economía , Femenino , Cadenas de Markov , Anciano , Inteligencia Artificial , Telemedicina/economía , Telemedicina/métodos
3.
Am J Ophthalmol ; 263: 206-213, 2024 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-38184101

RESUMEN

PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients. DESIGN: Prospective cohort study. METHODS: Setting: the participants from underwent clinical examinations between 2021 and 2022. Facial and anterior eye segment photographs, pre- and postoperative ocular parameters, and medical and family histories were recorded. Bioinformatics analysis was performed using whole-exome sequencing data. Statistical and correlation analyses were performed using the basic characteristics, deep phenotype, and genotype data. PARTICIPANTS: 115 patients with unrelated congenital cataract. INTERVENTIONS: performing clinical examinations, whole-exome sequencing, and bioinformatics analysis for all participants. MAIN OUTCOMES AND MEASURES: factors related to the genetic diagnosis yield of syndromic congenital cataracts. RESULTS: Bilaterally asymmetrical cataracts were identified to be associated with syndromic congenital cataracts. The overall genetic diagnostic yield in the cohort was 72.2%. In total, 34.8% of the probands were early diagnosed with various syndromes with the help of genetic information. A phenotype-genotype correlation was detected for some genes and deep phenotypes. CONCLUSIONS: We highlight the importance of screening syndromic diseases in the patients with asymmetrical congenital cataracts. Application of whole-exome sequencing helps provide early diagnosis and treatment for the patients with syndromic congenital cataracts. This study also achieved a high genetic diagnostic yield, expanded the genotypic spectrum, and found phenotype-genotype correlations. A comprehensive analysis of cataract symmetricity, family history, and deep phenotypes makes the genotype prediction of some congenital cataract patients possible.

4.
Int J Surg ; 110(3): 1337-1346, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38079600

RESUMEN

BACKGROUND: Emerging three-dimensional digital visualization technology (DVT) provides more advantages than traditional microscopy in microsurgery; however, its impact on microsurgeons' visual and nervous systems and delicate microsurgery is still unclear, which hinders the wider implementation of DVT in digital visualization for microsurgery. METHODS AND MATERIAL: Forty-two microsurgeons from the Zhongshan Ophthalmic Center were enrolled in this prospective self-controlled study. Each microsurgeon consecutively performed 30 min conjunctival sutures using a three-dimensional digital display and a microscope, respectively. Visual function, autonomic nerve activity, and subjective symptoms were evaluated before and immediately after the operation. Visual functions, including accommodative lag, accommodative amplitude, near point of convergence and contrast sensitivity function (CSF), were measured by an expert optometrist. Heart rate variability was recorded by a wearable device for monitoring autonomic nervous activity. Subjective symptoms were evaluated by questionnaires. Microsurgical performance was assessed by the video-based Objective Structured Assessment of Technical Skill (OSATS) tool. RESULTS: Accommodative lag decreased from 0.63 (0.18) diopters (D) to 0.55 (0.16) D ( P =0.014), area under the log contrast sensitivity function increased from 1.49 (0.15) to 1.52 (0.14) ( P =0.037), and heart rate variability decreased from 36.00 (13.54) milliseconds (ms) to 32.26 (12.35) ms ( P =0.004) after using the DVT, but the changes showed no differences compared to traditional microscopy ( P >0.05). No statistical significance was observed for global OSATS scores between the two rounds of operations [mean difference, 0.05 (95% CI: -1.17 to 1.08) points; P =0.95]. Subjective symptoms were quite mild after using both techniques. CONCLUSIONS: The impact of DVT-based procedures on microsurgeons includes enhanced accommodation and sympathetic activity, but the changes and surgical performance are not significantly different from those of microscopy-based microsurgery. Our findings indicate that short-term use of DVT is reliable for microsurgery and the long-term effect of using DVT deserve more consideration.


Asunto(s)
Microscopía , Dispositivos Electrónicos Vestibles , Humanos , Microcirugia/métodos , Estudios Prospectivos , Tecnología
5.
Nat Commun ; 14(1): 7126, 2023 11 06.
Artículo en Inglés | MEDLINE | ID: mdl-37932255

RESUMEN

Age is closely related to human health and disease risks. However, chronologically defined age often disagrees with biological age, primarily due to genetic and environmental variables. Identifying effective indicators for biological age in clinical practice and self-monitoring is important but currently lacking. The human lens accumulates age-related changes that are amenable to rapid and objective assessment. Here, using lens photographs from 20 to 96-year-olds, we develop LensAge to reflect lens aging via deep learning. LensAge is closely correlated with chronological age of relatively healthy individuals (R2 > 0.80, mean absolute errors of 4.25 to 4.82 years). Among the general population, we calculate the LensAge index by contrasting LensAge and chronological age to reflect the aging rate relative to peers. The LensAge index effectively reveals the risks of age-related eye and systemic disease occurrence, as well as all-cause mortality. It outperforms chronological age in reflecting age-related disease risks (p < 0.001). More importantly, our models can conveniently work based on smartphone photographs, suggesting suitability for routine self-examination of aging status. Overall, our study demonstrates that the LensAge index may serve as an ideal quantitative indicator for clinically assessing and self-monitoring biological age in humans.


Asunto(s)
Aprendizaje Profundo , Cristalino , Humanos , Preescolar , Envejecimiento/genética
6.
BMC Med Genomics ; 16(1): 241, 2023 10 12.
Artículo en Inglés | MEDLINE | ID: mdl-37828500

RESUMEN

BACKGROUND: Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) and can be inherited in either an autosomal dominant or autosomal recessive pattern. To date, only four mutations have been reported to cause CLSD. This study aims to identify the disease-causing variants in a large cohort of congenital cataract patients, to expand the genotypic and phenotypic spectrum of CLSD, and to confirm the association between SEC23A and autosomal recessive CLSD (ARCLSD). METHODS: We collected detailed medical records and performed comprehensive ocular examinations and whole-exome sequencing (WES) on 115 patients with congenital cataracts. After suspecting that a patient may have CLSD based on the sequencing results, we proceeded to conduct transmission electron microscopy (TEM) on the cultured skin fibroblasts. The clinical validity of the reported gene-disease relationships for the gene and the disease was evaluated using the ClinGen gene curation framework. RESULTS: Two novel compound heterozygous variants (c.710A > C p.Asp237Ala, c.1946T > C p.Leu649Pro) of the SEC23A gene, classified as variant of uncertain significance, were identified in the proband with skeletal, cardiac, ocular, and hearing defects. The observation of typical distended endoplasmic reticulum cisternae further supported the diagnosis of CLSD. Application of the ClinGen gene curation framework confirmed the association between SEC23A and ARCLSD. CONCLUSION: This study expands the genotypic and phenotypic spectrum of CLSD, proposes TEM as a supplemental diagnostic method, and indicates that congenital cataracts are a typical sign of ARCLSD.


Asunto(s)
Catarata , Pueblos del Este de Asia , Humanos , Catarata/congénito , Catarata/diagnóstico , Catarata/genética , Retículo Endoplásmico , Familia , Mutación , Linaje , Proteínas de Transporte Vesicular/genética
7.
Water Sci Technol ; 88(5): 1280-1293, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37771227

RESUMEN

Removing phosphate from wastewater can help alleviate eutrophication. Therefore, in this study, lanthanum and magnesium were loaded onto the thermally modified palygorskite (PAL) using a coprecipitation method, and a composite material was prepared for phosphate recovery. In the pH range of 2-7, the material can effectively adsorb the phosphate. In the kinetic experiment, the material was able to rapidly adsorb phosphate within 4 h of the beginning of the reaction. The adsorption isotherm result of the material was in accordance with Freundlich isotherm model. When pH was 7, the theoretical maximum adsorption capacity was 20.4 mg P/g. When phosphate coexisted with CO32- and HCO3-, the adsorption was significantly inhibited. In the adsorption-desorption experiment, the material can be reused at least five times after elution with 1 mol/L of sodium hydroxide solution. The equilibrium adsorption capacity of the material for total phosphorus in piggery wastewater was 7.25 mg P/g, achieving a total phosphorus removal rate of 95.3%. The characterization of XRD, FT-IR and XPS suggested that phosphate was mainly exchanged with La-OH in the material, forming an amorphous LaPO4 complex.

8.
Opt Express ; 31(16): 26685-26696, 2023 Jul 31.
Artículo en Inglés | MEDLINE | ID: mdl-37710523

RESUMEN

The metalens has vast applications in biomedicine and industrial manufacturing due to their ultrathin structure and vital ability to manipulate the properties of light waves for long-infrared systems. However, it is difficult for metalens to achieve the confocal function with high focusing efficiency, wide wavelength bandwidth, and low structural complexity. Here, we propose and experimentally demonstrate an all-silicon dielectric metalens composed of arrays of minimalist meta-atoms with a single rectangular nanopillar arranged on a periodic square lattice substrate, which realizes the confocal function of the orthogonal-linear-polarized light with wavelengths of 10.6 µm and 9.3 µm, with focusing efficiencies of 64.94% and 60.03%, respectively. Also, it reveals nearly the diffraction-limited focusing performance. In addition, the metalens can realize precise long-infrared thermal imaging. Moreover, the proposed metalens is compatible with the standard complementary metal oxide semiconductor processes, which can effectively reduce the manufacturing cost and provide a feasible solution for developing planar integrated multifunctional micro-nanophotonic devices in the long-infrared field.

9.
Am J Ophthalmol ; 252: 253-264, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37142171

RESUMEN

PURPOSE: To develop a multimodal artificial intelligence (AI) system, EE-Explorer, to triage eye emergencies and assist in primary diagnosis using metadata and ocular images. DESIGN: A diagnostic, cross-sectional, validity and reliability study. METHODS: EE-Explorer consists of 2 models. The triage model was developed from metadata (events, symptoms, and medical history) and ocular surface images via smartphones from 2038 patients presenting to Zhongshan Ophthalmic Center (ZOC) to output 3 classifications: urgent, semiurgent, and nonurgent. The primary diagnostic model was developed from the paired metadata and slitlamp images of 2405 patients from ZOC. Both models were externally tested on 103 participants from 4 other hospitals. A pilot test was conducted in Guangzhou to evaluate the hierarchical referral service pattern assisted by EE-Explorer for unspecialized health care facilities. RESULTS: A high overall accuracy, as indicated by an area under the receiver operating characteristic curve (AUC) of 0.982 (95% CI, 0.966-0.998), was obtained using the triage model, which outperformed the triage nurses (P < .001). In the primary diagnostic model, the diagnostic classification accuracy (CA) and Hamming loss (HL) in the internal testing were 0.808 (95% CI 0.776-0.840) and 0.016 (95% CI 0.006-0.026), respectively. In the external testing, model performance was robust for both triage (average AUC, 0.988, 95% CI 0.967-1.000) and primary diagnosis (CA, 0.718, 95% CI 0.644-0.792; and HL, 0.023, 95% CI 0.000-0.048). In the pilot test in the hierarchical referral settings, EE-explorer demonstrated consistently robust performance and broad participant acceptance. CONCLUSION: The EE-Explorer system showed robust performance in both triage and primary diagnosis for ophthalmic emergency patients. EE-Explorer can provide patients with acute ophthalmic symptoms access to remote self-triage and assist in primary diagnosis in unspecialized health care facilities to achieve rapid and effective treatment strategies.


Asunto(s)
Inteligencia Artificial , Triaje , Humanos , Triaje/métodos , Reproducibilidad de los Resultados , Estudios Transversales , Servicio de Urgencia en Hospital
10.
Opt Express ; 31(5): 8110-8119, 2023 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-36859927

RESUMEN

In this work, a simple dielectric metasurface hologram is proposed and designed by combining the electromagnetic vector analysis method and the immune algorithm, which can realize the holographic display of dual wavelength orthogonal-linear polarization light in visible light band, solve the problem of low efficiency of the traditional design method of metasurface hologram, and effectively improve the diffraction efficiency of metasurface hologram. The titanium dioxide metasurface nanorod based on rectangular structure is optimized and designed. When the x-linear polarized light with wavelength of 532 nm and y-linear polarized light with wavelength of 633 nm are incident on the metasurface respectively, different display output images with low cross-talk can be obtained on the same observation plane, and the transmission efficiencies of x-linear and y-linear polarized light are as high as 68.2% and 74.6% respectively in simulation. Then the metasurface is fabricated by Atomic Layer Deposition method. The experimental results are consistent with the design results, which proves that the metasurface hologram designed by this method can completely realize the feasibility of wavelength and polarization multiplexing holographic display, and has potential application value in holographic display, optical encryption, anti-counterfeiting, data storage and other fields.

11.
Opt Lett ; 48(5): 1140-1143, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36857233

RESUMEN

The implementation of transverse mode, polarization, frequency, and other degrees of freedom (d.o.f.s) of photons is an important way to improve the capability of photonic circuits. Here, a three-dimensional (3D) linear polarized (LP) LP11 mode converter was designed and fabricated using a femtosecond laser direct writing (FsLDW) technique. The converter included multi-mode waveguides, symmetric Y splitters, and phase delaying waveguides, which were constructed as different numbers and arrangements of circular cross section waveguides. Finally, the modes (LP11a and LP11b) were generated on-chip with a relatively low insertion loss (IL). The mode converter lays a foundation for on-chip high-order mode generation and conversion between different modes, and will play a significant role in mode coding and decoding of 3D photonic circuits.

12.
Front Pharmacol ; 14: 1090608, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36843931

RESUMEN

Introduction: Remimazolam is an ultra-short-acting benzodiazepine sedative agent commonly used in general anesthesia, procedural sedation, and intensive care unit (ICU) sedation. This study aimed to explore the efficacy and safety of remimazolam versus propofol for the induction and maintenance of general anesthesia in preschool-age children undergoing elective surgery. Methods and analysis: In this multicenter, randomized, single-blind, positive-controlled non-inferior clinical trial, one hundred ninety-two children aged 3-6 years will be randomly allocated as a 3:1 ratio into two groups: Group R with an intravenous dose of remimazolam 0.3 mg/kg for the induction of anesthesia followed by a constant infusion rate of remimazolam 1-3 mg/kg/h to maintain anesthesia, and Group P with an intravenous dose of propofol 2.5 mg/kg for the induction of anesthesia followed by a constant infusion rate of propofol 4-12 mg/kg/h to maintain anesthesia. The primary outcome will be the rate of the successful induction and maintenance of anesthesia. The secondary outcomes will include the time to LoC, the Bispectral Index (BIS) value, awakening time, extubation time, post-anesthesia care unit (PACU) discharge time, usage of additional sedative drugs during the induction period, usage of remedial drugs in PACU, emergence delirium, pain in PACU, behavior scores at day 3 after surgery, parental and anesthesiologists' satisfaction, and adverse events. Ethics and dissemination: This study has been approved by the ethics review boards at all participating hospitals. The Ethics Committee of the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University (Reference No. LCKY 2020-380, November 13, 2020) is the central ethics committee.

13.
Adv Mater ; 35(3): e2207771, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36341484

RESUMEN

Nanostructures provide a simple, effective, and low-cost route to enhance the light-trapping capability of optoelectronic devices. In recent years, nano-optical structures have been widely used in perovskite optoelectronic devices to greatly enhance the device performance. However, the inherent instability of perovskite materials hinders the practical application of these nanostructured optoelectronic devices. Here, in situ encapsulated moiré lattice perovskite photodetectors (PDs) by two nanograting-structured soft templates with relative rotation angles is fabricated. The confinement growth of the two nanograting templates leads to crystal growth with moiré lattice structure, which improves the light-harvesting ability of the perovskite crystal, thereby improving the device performance. The PD exhibits responsivity to 1026.5 A W-1 . The Moiré lattice-perovskite-based PD maintained 95% of the initial performance after 223 days. After being continuously sprayed with water moist for 180 min, the performance is maintained at 95.7% of its initial level. The nanograting structure endows the device with high polarization sensitivity of Imax /Imin as high as 9.1.

14.
Front Psychol ; 14: 1243658, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38292523

RESUMEN

Introduction: Adolescence represents a pivotal stage in the development of healthy behaviors, where establishing positive physical activity habits can have enduring effects on an individual's overall wellbeing. The ecological model highlights the influence of environmental factors on human behavior, with the family environment playing a significant role in shaping the physical activity habits of adolescents. Methods: The aim of this scale is to develop a reliable and effective tool, customized for the unique societal context of China, to assess how family factors influence the physical activity habits of Chinese adolescents. Participants were recruited through stratified cluster sampling from 24 secondary schools in six Chinese provinces between October and November 2021, resulting in 1,061 participants. Analysis was conducted on 1,004 valid questionnaires, divided into two samples. Sample 1, consisting of 502 students (248 males and 254 females; Mage = 15.5), underwent item analysis and exploratory factor analysis. Sample 2, comprising 502 students (267 males and 235 females; Mage = 16.5), underwent confirmatory factor analysis and internal consistency reliability analysis. Results: Through exploratory factor analysis, we extracted three factors comprising 15 items: "Family Environment Construction" (4 items), "Family Action Support" (6 items), and "Family Health Awareness" (5 items). The Cronbach's alpha values for these factors ranged from 0.890 to 0.894. Confirmatory factor analysis confirmed a satisfactory model fit (CMIN/DF = 1.45, SRMR = 0.027, GFI = 0.991, TLI = 0.989, RMSEA = 0.03). Discussion: The scale demonstrated strong internal consistency and test-retest reliability, confirming its effectiveness in empirical research. This study holds significant implications for enhancing the physical activity levels of adolescents, promoting their physical and mental wellbeing, enriching their developmental experiences, and contributing to their overall sense of happiness.

15.
Genes (Basel) ; 13(12)2022 12 14.
Artículo en Inglés | MEDLINE | ID: mdl-36553631

RESUMEN

Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative genes, of which RAB3GAP1 (OMIM# 602536) accounts for the highest proportion. We collected detailed medical records and performed whole-exome sequencing (WES) for a congenital cataract patient. A novel heterozygous frameshift RAB3GAP1 variant was detected in a boy with a rare ocular phenotype of bilateral membranous cataracts accompanied by a persistent papillary membrane. Further copy number variation (CNV) analysis identified a novel deletion on chromosome 2q21.3 that removed 4 of the 24 exons of RAB3GAP1. The patient was diagnosed with WARBM following genetic testing. The present study expands the genotypic and phenotypic spectrum of WARBM. It suggests applying whole exome sequencing (WES) and CNV analysis for the early diagnosis of syndromic diseases in children with congenital cataracts.


Asunto(s)
Catarata , Hipogonadismo , Microcefalia , Humanos , Catarata/congénito , Variaciones en el Número de Copia de ADN , Secuenciación del Exoma , Hipogonadismo/genética , Hipogonadismo/diagnóstico , Microcefalia/genética , Mutación , Proteínas de Unión al GTP rab3/genética , Masculino
16.
Genes (Basel) ; 13(11)2022 10 31.
Artículo en Inglés | MEDLINE | ID: mdl-36360224

RESUMEN

Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein (MIP) gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior umbilication of the lens in a four-generation pedigree with CCs. All patients in the observed family had nystagmus, nuclear cataracts, and elongated axial lengths compared with their healthy counterparts except for patient I:2, whose axial length was unavailable, and patientII:4, who had total cataracts. We confirmed, using Sanger sequencing based on whole-exon sequencing (WES) data, that all patients carried a heterozygous variant NM_012064.4:c.97C > T (NP_036196.1:p.R33C) in their MIP gene. To our knowledge, 29 variants of the human MIP gene and the relative phenotypes associated with CCs have been identified. Nevertheless, this is the first report on the anterior umbilication of the lens with nuclear or total opacity caused by the c.97C > T (p.R33C) variant in the MIP gene. These results also provide evidence that the elongated axial length might be associated with this variant. This study further confirms the phenotypic heterogeneity of CCs.


Asunto(s)
Acuaporinas , Catarata , Humanos , Acuaporinas/genética , Pueblo Asiatico , Catarata/genética , Catarata/congénito , Proteínas del Ojo/genética , Mutación Missense
17.
Genes (Basel) ; 13(8)2022 08 12.
Artículo en Inglés | MEDLINE | ID: mdl-36011342

RESUMEN

The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms' tumor, aniridia, genitourinary anomalies, as well as mental retardation. In this study, we expand the genotypic and phenotypic spectrum of WAGR syndrome by reporting on six patients from six unrelated families with different de novo deletions located on chromosome 11p13. Very rare phenotypes of lens automated absorption and lens thinning were detected in four of the six patients. We assessed the involvement of the ARL14EP gene in patients with and without severe lens abnormalities and found that its deletion may worsen the lens abnormalities in these patients.


Asunto(s)
Aniridia , Neoplasias Renales , Síndrome WAGR , Tumor de Wilms , Aniridia/genética , Deleción Cromosómica , Humanos , Neoplasias Renales/genética , Fenotipo , Síndrome WAGR/genética , Síndrome WAGR/patología , Tumor de Wilms/genética , Tumor de Wilms/patología
18.
Ann Plast Surg ; 89(2): 185-190, 2022 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-35703220

RESUMEN

BACKGROUND: The anterolateral thigh flap is one of the most widely used flaps because it has the advantages of less damage to the donor site, no sacrifice of main blood vessels, and abundant soft tissue. However, the application of anterolateral thigh flap in children is relatively rare because of small blood vessels and rapid physiological changes. The aim of this study was to explore the effectiveness and characteristics of free anterolateral thigh flaps for the reconstruction of extremity soft tissue defects in pediatric patients. PATIENTS AND METHODS: This study included 26 pediatric patients, with an average age of 6.7 years (range, 2-13 years). There were 5 cases of upper limb defects and 21 cases of lower limb defects, all of which were accompanied by exposed bones or tendons. The causes of defects included traffic injury in 9 cases, mechanical injury in 7 cases, collision injury in 4 cases, spoke injury in 3 cases, cicatricial contracture in 2 cases, and fibroma in 1 case. All defects were reconstructed with free anterolateral thigh flaps. RESULTS: Twenty-six anterolateral thigh flaps were harvested, including 15 fasciocutaneous flaps and 11 musculocutaneous flaps. The mean size of the flap was 73.4 cm 2 (range, 4 × 3 to 24 × 8 cm). The donor sites were sutured directly in 19 cases and underwent split-thickness skin grafting in 7 cases. There were 3 cases of vascular crisis, 3 cases of flap edge necrosis, 3 cases of infection, 1 case of pressure ulcer, and 1 case of dehiscence after surgery. Eleven patients had scar hyperplasia in the donor site. A total of 34 reoperations were performed, including 14 flap debulking, 7 debridement, 4 skin graft, 3 vascular crisis re-exploration, and 6 other procedures. CONCLUSIONS: Free anterolateral thigh flap was a safe and reliable option for reconstructing soft tissue defects of extremities in pediatric patients. Notably, the incidence of scar hyperplasia in the donor site and the possibility of reoperation in pediatric patients were higher than those in adult patients.


Asunto(s)
Colgajos Tisulares Libres , Colgajo Perforante , Procedimientos de Cirugía Plástica , Traumatismos de los Tejidos Blandos , Adulto , Niño , Cicatriz/cirugía , Humanos , Hiperplasia , Colgajo Perforante/cirugía , Procedimientos de Cirugía Plástica/métodos , Trasplante de Piel , Traumatismos de los Tejidos Blandos/cirugía , Muslo/cirugía , Resultado del Tratamiento
19.
Front Pharmacol ; 13: 828920, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35222043

RESUMEN

Twenty-Five Wei'er Tea Pills (TFP), a traditional Tibetan medicine, has shown to have a promising therapeutic effect in patients with Rheumatoid arthritis (RA), as well as being safe. Nonetheless, there have been limited pharmacological studies that have explored this therapeutic option. As gut microbiota has been proven to have a critical role in the pathogenesis of RA, this study aims to explore and reveal relevant ways by which TFP interacts with the chemical crosstalk between the gut microbiome and its host. 16S rRNA sequencing, combined with un-targeted metabolomics, were conducted on collagen-induced arthritis (CIA) rats. CIA model rats treated with TFP showed significant improvement in weight gain, pathological phenomena in joints, as well as decreased serum levels of TNF-α, IL-6 and increased level of IL-4 and IL-10. Significant dysfunction in the gut microbiome and alteration in serum metabolites were observed in CIA model rats, which were restored by TFP treatment. Coherence analysis indicated that TFP modulated the pathways of histidine metabolism, phenylalanine metabolism, alanine, aspartate, glutamate metabolism, amino sugar and nucleotide sugar metabolism owing to the abundances of Lactobacillus, Bacteroides, Prevotellaceae_UCG-001 and Christensenellaceae_R-7_group in the gut microflora. The corresponding metabolites involved L-histidine, histamine, phenylethylamine, asparagine, L-aspartic acid, D-fructose 1-phosphate, D-Mannose 6-phosphate, D-Glucose 6-phosphate, and Glucose 1-phosphate. In conclusion, this study reveals the ameliorative effects of TFP on RA through the chemical crosstalk that exists between the gut microbiota and its host, and also further enriches our understandings of the pathogenesis of RA.

20.
Eye (Lond) ; 36(8): 1681-1686, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-34345030

RESUMEN

BACKGROUND: Retinal exudates and/or drusen (RED) can be signs of many fundus diseases that can lead to irreversible vision loss. Early detection and treatment of these diseases are critical for improving vision prognosis. However, manual RED screening on a large scale is time-consuming and labour-intensive. Here, we aim to develop and assess a deep learning system for automated detection of RED using ultra-widefield fundus (UWF) images. METHODS: A total of 26,409 UWF images from 14,994 subjects were used to develop and evaluate the deep learning system. The Zhongshan Ophthalmic Center (ZOC) dataset was selected to compare the performance of the system to that of retina specialists in RED detection. The saliency map visualization technique was used to understand which areas in the UWF image had the most influence on our deep learning system when detecting RED. RESULTS: The system for RED detection achieved areas under the receiver operating characteristic curve of 0.994 (95% confidence interval [CI]: 0.991-0.996), 0.972 (95% CI: 0.957-0.984), and 0.988 (95% CI: 0.983-0.992) in three independent datasets. The performance of the system in the ZOC dataset was comparable to that of an experienced retina specialist. Regions of RED were highlighted by saliency maps in UWF images. CONCLUSIONS: Our deep learning system is reliable in the automated detection of RED in UWF images. As a screening tool, our system may promote the early diagnosis and management of RED-related fundus diseases.


Asunto(s)
Aprendizaje Profundo , Drusas Retinianas , Exudados y Transudados , Fondo de Ojo , Humanos , Retina/diagnóstico por imagen , Drusas Retinianas/diagnóstico
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