Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 299
Filtrar
1.
Hong Kong Med J ; 30(4): 300-309, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39143753

RESUMEN

INTRODUCTION: The need for end-of-life care is common in intensive care units (ICUs). Although guidelines exist, little is known about actual end-of-life care practices in Hong Kong ICUs. The study aim was to provide a detailed description of these practices. METHODS: This prospective, multicentre observational sub-analysis of the Ethicus-2 study explored end-of-life practices in eight participating Hong Kong ICUs. Consecutive adult ICU patients admitted during a 6-month period with life-sustaining treatment (LST) limitation or death were included. Follow-up continued until death or 2 months from the initial decision to limit LST. RESULTS: Of 4922 screened patients, 548 (11.1%) had LST limitation (withholding or withdrawal) or died (failed cardiopulmonary resuscitation/brain death). Life-sustaining treatment limitation occurred in 455 (83.0%) patients: 353 (77.6%) had decisions to withhold LST and 102 (22.4%) had decisions to withdraw LST. Of those who died without LST limitation, 80 (86.0%) had failed cardiopulmonary resuscitation and 13 (14.0%) were declared brain dead. Discussions of LST limitation were initiated by ICU physicians in most (86.2%) cases. Shared decision-making between ICU physicians and families was the predominant model; only 6.0% of patients retained decision-making capacity. Primary medical reasons for LST limitation were unresponsiveness to maximal therapy (49.2%) and multiorgan failure (17.1%). The most important consideration for decision-making was the patient's best interest (81.5%). CONCLUSION: Life-sustaining treatment limitations are common in Hong Kong ICUs; shared decision-making between physicians and families in the patient's best interest is the predominant model. Loss of decision-making capacity is common at the end of life. Patients should be encouraged to communicate end-of-life treatment preferences to family members/surrogates, or through advance directives.


Asunto(s)
Unidades de Cuidados Intensivos , Cuidado Terminal , Privación de Tratamiento , Humanos , Hong Kong , Masculino , Femenino , Estudios Prospectivos , Persona de Mediana Edad , Anciano , Reanimación Cardiopulmonar , Toma de Decisiones , Anciano de 80 o más Años , Adulto , Muerte Encefálica , Cuidados para Prolongación de la Vida
2.
Proc Natl Acad Sci U S A ; 121(36): e2403326121, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39213180

RESUMEN

Evolutionary variation in the wing pigmentation of butterflies and moths offers striking examples of adaptation by crypsis and mimicry. The cortex locus has been independently mapped as the locus controlling color polymorphisms in 15 lepidopteran species, suggesting that it acts as a genomic hotspot for the diversification of wing patterns, but functional validation through protein-coding knockouts has proven difficult to obtain. Our study unveils the role of a long noncoding RNA (lncRNA) which we name ivory, transcribed from the cortex locus, in modulating color patterning in butterflies. Strikingly, ivory expression prefigures most melanic patterns during pupal development, suggesting an early developmental role in specifying scale identity. To test this, we generated CRISPR mosaic knock-outs in five nymphalid butterfly species and show that ivory mutagenesis yields transformations of dark pigmented scales into white or light-colored scales. Genotyping of Vanessa cardui germline mutants associates these phenotypes to small on-target deletions at the conserved first exon of ivory. In contrast, cortex germline mutant butterflies with confirmed null alleles lack any wing phenotype and exclude a color patterning role for this adjacent gene. Overall, these results show that a lncRNA gene acts as a master switch of color pattern specification and played key roles in the adaptive diversification of wing patterns in butterflies.


Asunto(s)
Mariposas Diurnas , Pigmentación , ARN Largo no Codificante , Alas de Animales , Animales , Mariposas Diurnas/genética , Pigmentación/genética , Alas de Animales/anatomía & histología , Alas de Animales/crecimiento & desarrollo , ARN Largo no Codificante/genética , Fenotipo , Adaptación Fisiológica/genética
3.
Future Sci OA ; 10(1): FSO963, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38817384

RESUMEN

Painless legs and moving toe syndrome (PoLMT) is a rare syndrome characterized by involuntary movements of the toe without pain. The exact etiology of the patient's PoLMT is unknown. We present a case of PoLMT in 45-year-old woman with a history of haloperidol intake for 10 months. Haloperidol was discontinued, and aripiprazole (15 mg) was initiated. After this switch, a reduction in movement was observed in the third and fourth toes; however, the second toe showed no discernible change.


Painless Legs and Moving Toe Syndrome (PoLMT) is a rare condition in which the toe moves on its own without any pain. No one knows for sure what causes PoLMT in patients. In this case report, we discuss a 45-year-old woman with PoLMT who was taking a drug called haloperidol for 10 months prior to their visit to hospital. Another drug, aripiprazole, was started after haloperidol was stopped. It was noticed that the third and fourth toes moved less after this switch in medication, but no change was noticed in the second toe.

4.
Zhonghua Wai Ke Za Zhi ; 62(6): 606-612, 2024 Jun 01.
Artículo en Chino | MEDLINE | ID: mdl-38682633

RESUMEN

Objective: To explore the risk factors of short-term prognosis of severe Budd-Chiari syndrome (BCS) patients,established and verified the nomogram prediction model for these BCS patients and evaluated its clinical application value. Methods: This study is a retrospective cohort study. The clinical data of 171 patients with severe BCS diagnosed were retrospectively analyzed in the Department of Hepatopancreatobiliary Surgery First Affiliated Hospital of Zhengzhou University from January 2018 to December 2023. There were 105 males and 66 females, aged (52.1±12.8) years (range: 18 to 79 years). The patients were divided into two groups based on whether they died within 28 days: the death group (n=38) and the survival group (n=133). The risk factors for short-term death of patients were analyzed,and independent risk factors were screened by univariate and multivariate analysis. Furthermore,these factors were used to establish the nomogram prediction model. The area under the curve(AUC),the Bootstrap Resampling,the Hosmer-Lemeshow test and the Decision Curve Analysis(DCA) were used to verify the model's differentiation,internal verification,calibration degree and clinical effectiveness,respectively. Results: Univariate and multivariate Logistics regression analysis showed that the history of hepatic encephalopathy,white blood cell,glomerular filtration rate and prothrombin time were independent risk factors (P<0.05). The above factors were used to successfully establish the prediction model with 0.908 of AUC and 0.895 of the internal verification of AUC,indicating that the predictive model was valuable. The 0.663 P-values in the Hosmer-Lemeshow test indicated the high calibration degree of the model. The clinical effectiveness of the model was proved by the 18% clinical benefit population using the DCA curve with the 17% probability threshold. Conclusions: The independent risk factors are the history of hepatic encephalopathy,white blood cell,glomerular filtration rate and prothrombin time. An adequate basis was acquired by establishing a nomogram prediction model of the short-term prognosis of severe BCS,which was helpful for early clinical screening and identification of high-risk patients with severe BCS who could die in the short term and timely providing timely intervention measures for improving the prognosis.


Asunto(s)
Síndrome de Budd-Chiari , Nomogramas , Humanos , Femenino , Masculino , Persona de Mediana Edad , Síndrome de Budd-Chiari/diagnóstico , Síndrome de Budd-Chiari/cirugía , Estudios Retrospectivos , Pronóstico , Factores de Riesgo , Adulto , Anciano , Adolescente , Adulto Joven
5.
Neuro Oncol ; 26(4): 670-683, 2024 04 05.
Artículo en Inglés | MEDLINE | ID: mdl-38039386

RESUMEN

BACKGROUND: Previous research identified many clinical variables that are significantly related to cognitive functioning before surgery. It is not clear whether such variables enable accurate prediction for individual patients' cognitive functioning because statistical significance does not guarantee predictive value. Previous studies did not test how well cognitive functioning can be predicted for (yet) untested patients. Furthermore, previous research is limited in that only linear or rank-based methods with small numbers of variables were used. METHODS: We used various machine learning models to predict preoperative cognitive functioning for 340 patients with glioma across 18 outcome measures. Predictions were made using a comprehensive set of clinical variables as identified from the literature. Model performances and optimized hyperparameters were interpreted. Moreover, Shapley additive explanations were calculated to determine variable importance and explore interaction effects. RESULTS: Best-performing models generally demonstrated above-random performance. Performance, however, was unreliable for 14 out of 18 outcome measures with predictions worse than baseline models for a substantial number of train-test splits. Best-performing models were relatively simple and used most variables for prediction while not relying strongly on any variable. CONCLUSIONS: Preoperative cognitive functioning could not be reliably predicted across cognitive tests using the comprehensive set of clinical variables included in the current study. Our results show that a holistic view of an individual patient likely is necessary to explain differences in cognitive functioning. Moreover, they emphasize the need to collect larger cross-center and multimodal data sets.


Asunto(s)
Cognición , Evaluación de Resultado en la Atención de Salud , Humanos
6.
Respir Med ; 220: 107436, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37918542

RESUMEN

BACKGROUND: Clinical trials have demonstrated positive correlation between pulmonary function and chest wall expansion in COPD. Decrease in chest wall expansion in patients with COPD compromises rib cage mobility and functional length of respiratory muscles that ultimately jeopardize the efficacy and function of respiratory system. METHOD: Thirty male adults (mean age: 74.97 ± 6.29) suffered with severe COPD were randomly allocated to either experimental group (chest wall mobilizations) or control group. Both groups received standardized education and walking exercise (twice/week) for 6 weeks. Patients in experimental group received additional chest wall mobilizations that include stretching and joints mobilization. Pulmonary function, respiratory muscle strength, thoracic excursion, cervical and thoracic range of movement were evaluated at baseline, post-program and at 3-month follow-up. RESULTS: There were significantly greater improvements in respiratory muscle strength, thoracic excursion and thoracic range of movement (p < 0.01) except thoracic flexion. Lower thoracic excursion is strongly associated with increase in maximum inspiratory pressure (ß = 13.64, p < 0.001) and maximum expiratory pressure (ß = 16.23, p < 0.001). Thoracic range of movement especially extension (p < 0.001) and bilateral rotation (p < 0.01) exhibit a strong relationship with increase in lower thoracic excursion (adjusted R2 = 0.876) as shown in multiple regression analysis. CONCLUSION: Additional chest wall mobilization in the rehabilitation of patients with COPD is likely to enhance thoracic extension and rotation which increase lower thoracic excursion. This significant improvement in chest expansion capacity allows respiratory muscles to work at an optimal functional length which result in greater respiratory muscle strength in patients with severe COPD.


Asunto(s)
Enfermedad Pulmonar Obstructiva Crónica , Pared Torácica , Adulto , Humanos , Masculino , Anciano , Anciano de 80 o más Años , Músculos Respiratorios , Pulmón , Respiración
7.
Zhonghua Yi Xue Za Zhi ; 103(38): 3041-3046, 2023 Oct 17.
Artículo en Chino | MEDLINE | ID: mdl-37813655

RESUMEN

Objective: To explore the role of Langerin in mediating epicutaneous sensitization of atopic dermatitis (AD) in mouse model. Methods: Mice were topically treated with calcipotriol (MC903) plus ovalbumin (OVA) on the ears to establish AD mouse models, and mice were divided into wild-type control group, wild-type AD group, Langerin knockout control group, and Langerin knockout AD group. Changes of lesion were daily observed. Infiltration of inflammatory cells, mRNA expression of Tslp, Il4, Il13, Il17a, and Il22, levels of serum total IgE, OVA-specific IgE (sIgE), OVA sIgG1 and OVA sIgG2a, proportion of regulatory T (Treg) cells in cervical draining lymph nodes were evaluated at the end of model preparation. Results: Skin tumidness and thickness, dermal inflammatory cells infiltration, the mRNA expression levels of Tslp, Il4, Il13, Il17a and Il22 in wild-type AD groups were higher than those in wild-type control groups, with (1.80±0.66, 1.64±0.25, 1.71±0.54, 2.41±0.23, 2.49±0.32) and (0.53±0.45, 0.85±0.29, 0.73±0.50, 0.72±0.25, 0.56±0.29), respectively (all P<0.05). In addition, the levels of serum total IgE, OVA sIgE and OVA sIgG1 in wild-type AD groups were higher than those in wild-type control groups, with [(1 216.00±572.70) ng/ml, (597.00±538.30) ng/ml, 1.59±0.09] and [(24.22±35.04) ng/ml, (20.01±41.71) ng/ml, 1.16±0.03], respectively (all P<0.05). In Langerin knockout mice, compared to wild-type mice, skin erythema, skin tumidness, epidermal thickening, inflammatory cell infiltration were more obvious; the mRNA expression levels of Tslp, Il4, Il13, Il17a and Il22 were upregulated with (8.19±6.44, 2.53±0.69, 2.82±0.73, 3.94±1.32, 3.80±1.43) (all P<0.05); the levels of serum total IgE, OVA sIgE and OVA sIgG1 were significantly increased with (2 508.00±657.10) ng/ml, (1 808.00±470.70) ng/ml, (1.73±0.09) (all P<0.05); the number of CD4+CD25+CD127-Treg cells were decreased significantly with (13.25±0.96)% and (15.31±1.47)%, respectively (P<0.05). Conclusion: Langerin is involved in mediating epicutaneous sensitization of the AD mouse model and plays a negative immunoregulatory role.


Asunto(s)
Dermatitis Atópica , Animales , Ratones , Citocinas/metabolismo , Dermatitis Atópica/metabolismo , Dermatitis Atópica/patología , Modelos Animales de Enfermedad , Inmunoglobulina E/metabolismo , Interleucina-13/metabolismo , Interleucina-4/metabolismo , Ratones Endogámicos BALB C , Ratones Noqueados , Ovalbúmina/metabolismo , ARN Mensajero , Piel
8.
Development ; 150(18)2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37602496

RESUMEN

Butterfly color patterns provide visible and biodiverse phenotypic readouts of the patterning processes. Although the secreted ligand WntA has been shown to instruct the color pattern formation in butterflies, its mode of reception remains elusive. Butterfly genomes encode four homologs of the Frizzled-family of Wnt receptors. Here, we show that CRISPR mosaic knockouts of frizzled2 (fz2) phenocopy the color pattern effects of WntA loss of function in multiple nymphalids. Whereas WntA mosaic clones result in intermediate patterns of reduced size, fz2 clones are cell-autonomous, consistent with a morphogen function. Shifts in expression of WntA and fz2 in WntA crispant pupae show that they are under positive and negative feedback, respectively. Fz1 is required for Wnt-independent planar cell polarity in the wing epithelium. Fz3 and Fz4 show phenotypes consistent with Wnt competitive-antagonist functions in vein formation (Fz3 and Fz4), wing margin specification (Fz3), and color patterning in the Discalis and Marginal Band Systems (Fz4). Overall, these data show that the WntA/Frizzled2 morphogen-receptor pair forms a signaling axis that instructs butterfly color patterning and shed light on the functional diversity of insect Frizzled receptors.


Asunto(s)
Mariposas Diurnas , Pigmentación , Animales , Pigmentación/genética , Mariposas Diurnas/genética , Mariposas Diurnas/metabolismo , Transducción de Señal/genética , Receptores Frizzled/genética , Receptores Frizzled/metabolismo , Alas de Animales/metabolismo
9.
Cell Rep ; 42(8): 112820, 2023 08 29.
Artículo en Inglés | MEDLINE | ID: mdl-37481719

RESUMEN

Continuous color polymorphisms can serve as a tractable model for the genetic and developmental architecture of traits. Here we investigated continuous color variation in Colias eurytheme and Colias philodice, two species of sulphur butterflies that hybridize in sympatry. Using quantitative trait locus (QTL) analysis and high-throughput color quantification, we found two interacting large-effect loci affecting orange-to-yellow chromaticity. Knockouts of red Malpighian tubules (red), likely involved in endosomal maturation, result in depigmented wing scales. Additionally, the transcription factor bric-a-brac can act as a modulator of orange pigmentation. We also describe the QTL architecture of other continuously varying traits, together supporting a large-X effect model where the genetic control of species-defining traits is enriched on sex chromosomes. This study sheds light on the range of possible genetic architectures that can underpin a continuously varying trait and illustrates the power of using automated measurement to score phenotypes that are not always conspicuous to the human eye.


Asunto(s)
Mariposas Diurnas , Animales , Humanos , Mariposas Diurnas/genética , Simpatría , Pigmentación/genética , Sitios de Carácter Cuantitativo/genética , Polimorfismo Genético , Alas de Animales
10.
Zhonghua Wai Ke Za Zhi ; 61(8): 693-699, 2023 Aug 01.
Artículo en Chino | MEDLINE | ID: mdl-37400213

RESUMEN

Objective: To examine the feasibility, safety, and efficacy of mobilization of the vertebral artery for C2 pedicle screws in cases with high-riding vertebral artery (HRVA). Methods: The clinical data of 12 patients with basilar invagination and atlantoaxial dislocation underwent atlantoaxial reduction and fixation in the Department of Neurosurgery, the First Affiliated Hospital of University of Science and Technology of China between January 2020 and November 2021 were retrospectively analyzed. All patients had high-riding vertebral artery on at least one side that prohibited the insertion of C2 pedicle screws. There were 2 males and 10 females aged (48.0±12.8) years (range: 17 to 67 years). After correction of vertical dislocation during the operation, the C2 pedicle screw insertion and occipitocervical fixation and fusion were performed using the vertebral artery mobilization technique. Neurological function was assessed using the Japanese Orthopedic Association (JOA) scale. The preoperative and postoperative JOA score and the main radiological measurements, including the anterior atlantodental interval (ADI), the distance of the odontoid tip above the Chamberlain line, the clivus-canal angle, were collected and compared by paired t-test. Results: Mobilization of the high-riding vertebral artery was successfully completed, and C2 pedicle screws were then fulfilled after the vertebral artery was protected. There was no injury to the vertebral artery during the operation. Meanwhile, no severe surgical complications such as cerebral infarction or aggravated neurological dysfunction occurred during the perioperative period. Satisfactory C2 pedicle screw placement and reduction were achieved in all 12 patients. All patients achieved bone fusion 6 months after surgery. No looseness and shift in internal fixation or reduction loss was observed during the follow-up period. Compared to the preoperative, the postoperative ADI decreased from (6.1±1.9) mm to (2.0±1.2) mm (t=6.73, P<0.01), the distance of the odontoid tip above the Chamberlain line decreased from (10.4±2.5) mm to (5.5±2.3) mm (t=7.12, P<0.01), the clivus-canal angle increased from (123.4±11.1) ° to (134.7±9.6) ° (t=2.50, P=0.032), the JOA score increased from 13.3±2.1 to 15.6±1.2 (t=6.99, P<0.01). Conclusion: The C2 pedicle screw insertion assisted by mobilization of the vertebral artery is safe and considerably effective, providing a choice for internal fixation in cases with high-riding vertebral arteries.

12.
Proc Biol Sci ; 289(1989): 20221649, 2022 12 21.
Artículo en Inglés | MEDLINE | ID: mdl-36515119

RESUMEN

Ecosystem structure and function are increasingly threatened by changing climate, with profound effects observed globally in recent decades. Based on standardized visual censuses of reef biodiversity, we describe 27 years of community-level change for fishes, mobile macroinvertebrates and macroalgae in the Tasmanian ocean-warming hotspot. Significant ecological change was observed across 94 reef sites (5-10 m depth range) spanning four coastal regions between three periods (1992-95, 2006-07, 2017-19), which occurred against a background of pronounced sea temperature rise (+0.80°C on average). Overall, fish biomass increased, macroinvertebrate species richness and abundance decreased and macroalgal cover decreased, particularly during the most recent decade. While reef communities were relatively stable and warming was slight between the 1990s and mid-2000s (+0.12°C mean temperature rise), increased abundances of warm affinity fishes and invertebrates accompanied warming during the most recent decade (+0.68°C rise). However, significant rises in the community temperature index (CTI) were only found for fishes, invertebrates and macroalgae in some regions. Coastal warming was associated with increased fish biomass of non-targeted species in fished zones but had little effect on reef communities within marine reserves. Higher abundances of larger fishes and lobsters inside reserves appeared to negate impacts of 'thermophilization'.


Asunto(s)
Ecosistema , Algas Marinas , Animales , Biodiversidad , Invertebrados , Temperatura , Peces , Arrecifes de Coral
14.
Hong Kong Med J ; 28(3): 204-214, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35697524

RESUMEN

INTRODUCTION: Compared with young children who have acute lymphoblastic leukaemia (ALL), adolescents with ALL have unfavourable disease profiles and worse survival. However, limited data are available regarding the characteristics and outcomes of adolescents with ALL who underwent treatment in clinical trials. The aim of this study was to investigate the causes of treatment failure in adolescents with ALL. METHODS: We retrospectively analysed the outcomes of 711 children with ALL, aged 1-18 years, who were enrolled in five clinical trials of paediatric ALL treatment between 1993 and 2015. RESULTS: Among the 711 children with ALL, 530 were young children (1-9 years at diagnosis) and 181 were adolescents (including 136 younger adolescents [10-14 years] and 45 older adolescents [15-18 years]). Compared with young children who had ALL, adolescents with ALL were less likely to have favourable genetic features and more likely to demonstrate poor early response to treatment. The 10-year overall survival and event-free survival rates were significantly lower among adolescents than among young children (77.9% vs 87.6%, P=0.0003; 69.7% vs 76.5%, P=0.0117). There were no significant differences in the 10-year cumulative incidence of relapse, but the 10-year cumulative incidence of treatment-related death (TRD) was significantly greater among adolescents (7.2%) than among young children (2.3%; P=0.002). Multivariable analysis showed that both younger and older adolescents (vs young children) had worse survival and greater incidence of TRD. CONCLUSION: Adolescents with ALL had worse survival because they experienced a greater incidence of TRD. There is a need to investigate optimal treatment adjustments and novel targeted agents to achieve better survival rates (without excessive toxicity) among adolescents with ALL.


Asunto(s)
Recurrencia Local de Neoplasia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica , Niño , Preescolar , Supervivencia sin Enfermedad , Humanos , Incidencia , Recurrencia Local de Neoplasia/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Estudios Retrospectivos , Tasa de Supervivencia
15.
Physiol Meas ; 43(6)2022 06 30.
Artículo en Inglés | MEDLINE | ID: mdl-35477173

RESUMEN

Objective. Sleep apnea is a common sleep breathing disorder that can significantly decrease sleep quality and have major health consequences. It is diagnosed based on the apnea hypopnea index (AHI). This study explored a novel, generalized algorithm for the automatic diagnosis of sleep apnea employing airflow (AF) and oximetry (SpO2) signals.Approach. Of the 988 polysomnography records, 45 were randomly selected for developing the automatic algorithm and the remainder 943 for validating purposes. The algorithm detects apnea events by a per-sample encoding process applied to the peak excursion of AF signal. Hypopnea events were detected from the per-sample encoding of AF and SpO2with an adjustment to time lag in SpO2. Total recording time was automatically processed and optimized for computation of total sleep time (TST). Total number of detected events and computed TST were used to estimate AHI. The estimated AHI was validated against the scored data from the Sleep Heart Health Study.Main results. Intraclass correlation coefficient of 0.94 was obtained between estimated and scored AHIs. The diagnostic accuracies were 93.5%, 92.4%, and 96.6% for AHI cut-off values of ≥5, ≥15, and ≥30 respectively. The overall accuracy for the combined severity categories (normal, mild, moderate, and severe) and kappa were 83.4% and 0.77 respectively.Significance. This new automatic technique was found to be superior to the other existing methods and can be applied to any portable sleep devices especially for home sleep apnea tests.


Asunto(s)
Síndromes de la Apnea del Sueño , Apnea Obstructiva del Sueño , Trastornos del Sueño-Vigilia , Algoritmos , Humanos , Oximetría , Respiración , Síndromes de la Apnea del Sueño/diagnóstico , Apnea Obstructiva del Sueño/diagnóstico
16.
Proc Natl Acad Sci U S A ; 119(3)2022 01 18.
Artículo en Inglés | MEDLINE | ID: mdl-35012980

RESUMEN

Mating cues evolve rapidly and can contribute to species formation and maintenance. However, little is known about how sexual signals diverge and how this variation integrates with other barrier loci to shape the genomic landscape of reproductive isolation. Here, we elucidate the genetic basis of ultraviolet (UV) iridescence, a courtship signal that differentiates the males of Colias eurytheme butterflies from a sister species, allowing females to avoid costly heterospecific matings. Anthropogenic range expansion of the two incipient species established a large zone of secondary contact across the eastern United States with strong signatures of genomic admixtures spanning all autosomes. In contrast, Z chromosomes are highly differentiated between the two species, supporting a disproportionate role of sex chromosomes in speciation known as the large-X (or large-Z) effect. Within this chromosome-wide reproductive barrier, linkage mapping indicates that cis-regulatory variation of bric a brac (bab) underlies the male UV-iridescence polymorphism between the two species. Bab is expressed in all non-UV scales, and butterflies of either species or sex acquire widespread ectopic iridescence following its CRISPR knockout, demonstrating that Bab functions as a suppressor of UV-scale differentiation that potentiates mating cue divergence. These results highlight how a genetic switch can regulate a premating signal and integrate with other reproductive barriers during intermediate phases of speciation.


Asunto(s)
Mariposas Diurnas/genética , Mariposas Diurnas/efectos de la radiación , Genes de Cambio , Iridiscencia/genética , Azufre/química , Rayos Ultravioleta , Animales , Sistemas CRISPR-Cas/genética , Cromosomas/genética , Genes de Insecto , Sitios Genéticos , Proteínas de Insectos/genética , Proteínas de Insectos/metabolismo , Iridiscencia/efectos de la radiación , Masculino , Conducta Sexual Animal/fisiología , Especificidad de la Especie , Simpatría/genética , Alas de Animales/metabolismo
17.
Zhonghua Er Ke Za Zhi ; 59(8): 695-699, 2021 Aug 02.
Artículo en Chino | MEDLINE | ID: mdl-34333924

RESUMEN

Objective: To explore the clinical characteristics, genotypes and long-term outcomes of individuals with 3-methylglutaconic aciduria. Methods: The clinical features, biochemical data, genetic test results and treatment outcomes of six children with 3-methylglutaconic aciduria admitted to the Department of Endocrinology, Genetics and Metabolism, Xinhua Hospital from February 2017 to February 2019 were retrospectively analyzed and the Gesell developmental diagnosis schedule was performed to evaluate the development of four patients. Results: Among 6 children with 3-methylglutaconic aciduria 2 were males and 4 were females.Four cases had 3-methylglutaconic aciduria type Ⅰ and 2 cases had 3-methylglutaconic aciduria with deafness,encephalopathy, and Leigh-like syndrome. Five of 6 patients were detected by newborn screening among whom 4 remained asymptomatic, and only one had a postmortem diagnosis. Among them, 4 patients remained asymptomatic, while two presented with clinical symptoms such as jaundice and dyspnea and the age of disease onset was 1 and 2 days respectively. The concentration of 3-methylglutaconic acid in urine of all affected individuals was between 22.38 and 77.09 mmol/molCr, which was above the normal value. Genetic tests were performed for all patients. Eleven variants were identified in 2 genes, of which 10 variants were novel and only c.442C>T p.(R148X) has been previously reported; Seven variants (c.656-2delA, EX5-EX6 Del, c.942+3A>G, c.373C>T p.(R125W), c.895-3C>G, c.667C>T p.(R223X) and c.894+5G>A) were in AUH gene. The others (c.548G>A p.(R138Q), c.442C>T p.(R148X), c.1339C>T p.(R447X) and c.973dupA p.(M325Nfs*5) were in SERAC1 gene. After being treated with leucine diet restriction and L-carnitine, 4 patients with AUH gene variation who were from asymptomatic phase developed normally, whereas those 2 patients with SERAC1 gene variation had a poor prognosis. During the follow-up, 2 patients exhibited varying degrees of psychomotor retardation, the rest had normal course of development. Conclusions: There are significant clinical heterogeneities among individuals with 3-methylglutaconic aciduria. The most common pathogenic variants are splicing variations, followed by nonsense, missense and frameshift mutations. Leucine-free diet and oral L-carnitine therapy are effective for some patients. Newborn screening is essential for early diagnosis and improvement of prognosis.


Asunto(s)
Encefalopatías , Errores Innatos del Metabolismo , Niño , Femenino , Glutaratos , Humanos , Recién Nacido , Masculino , Mutación , Tamizaje Neonatal , Estudios Retrospectivos
18.
Physiol Meas ; 42(1): 015001, 2021 02 06.
Artículo en Inglés | MEDLINE | ID: mdl-33296878

RESUMEN

OBJECTIVE: Sleep apnea significantly decreases the quality of life. The apnea hypopnea index (AHI) is the main indicator for sleep apnea diagnosis. This study explored a novel automatic algorithm to diagnose sleep apnea from nasal airflow (AF) and pulse oximetry (SpO2) signals. APPROACH: Of the 988 polysomnography (PSG) records from the sleep heart health study (SHHS), 45 were randomly selected for the development of an algorithm and the remainder for validation (n = 943). The algorithm detects apnea events by a digitization process, following the determination of the peak excursion (peak-to-trough amplitude) from AF envelope. Hypopnea events were determined from the AF envelope and oxygen desaturation with correction to time lag in SpO2. Total sleep time (TST) was estimated from an optimized percentage of artefact-free total recording time. AHI was estimated from the number of detected events divided by the estimated TST. The estimated AHI was compared to the scored SHHS data for performance evaluation. MAIN RESULTS: The validation showed good agreement between the estimated and scored AHI (intraclass correlation coefficient of 0.95 and mean ±95% limits of agreement of -1.6 ±12.5 events h-1). The diagnostic accuracies were found: 90.7%, 91%, and 96.7% for AHI cut-off ≥5, ≥15, and ≥30 respectively. SIGNIFICANCE: The new algorithm is accurate over other existing methods for the automatic diagnosis of sleep apnea. It is applicable to any portable sleep screeners especially for the home diagnosis of sleep apnea.


Asunto(s)
Síndromes de la Apnea del Sueño , Apnea Obstructiva del Sueño , Algoritmos , Humanos , Oximetría , Calidad de Vida , Síndromes de la Apnea del Sueño/diagnóstico , Apnea Obstructiva del Sueño/diagnóstico
19.
Proc Biol Sci ; 287(1941): 20201798, 2020 12 23.
Artículo en Inglés | MEDLINE | ID: mdl-33352078

RESUMEN

Primary productivity of marine ecosystems is largely driven by broad gradients in environmental and ecological properties. By contrast, secondary productivity tends to be more variable, influenced by bottom-up (resource-driven) and top-down (predatory) processes, other environmental drivers, and mediation by the physical structure of habitats. Here, we use a continental-scale dataset on small mobile invertebrates (epifauna), common on surfaces in all marine ecosystems, to test influences of potential drivers of temperature-standardized secondary production across a large biogeographic range. We found epifaunal production to be remarkably consistent along a temperate to tropical Australian latitudinal gradient of 28.6°, spanning kelp forests to coral reefs (approx. 3500 km). Using a model selection procedure, epifaunal production was primarily related to biogenic habitat group, which explained up to 45% of total variability. Production was otherwise invariant to predictors capturing primary productivity, the local biomass of fishes (proxy for predation pressure), and environmental, geographical, and human impacts. Highly predictable levels of epifaunal productivity associated with distinct habitat groups across continental scales should allow accurate modelling of the contributions of these ubiquitous invertebrates to coastal food webs, thus improving understanding of likely changes to food web structure with ocean warming and other anthropogenic impacts on marine ecosystems.


Asunto(s)
Arrecifes de Coral , Invertebrados/fisiología , Animales , Australia , Biomasa , Ecosistema , Peces , Cadena Alimentaria , Humanos , Kelp , Océanos y Mares , Conducta Predatoria , Temperatura
20.
Zhonghua Yan Ke Za Zhi ; 56(12): 920-927, 2020 Dec 11.
Artículo en Chino | MEDLINE | ID: mdl-33342118

RESUMEN

Objective: To develop a fundus image quality assessment system based on computer vision technology and to verify its accuracy by comparing the results of artificial discrimination and using this system. Methods: The process of image evaluation was divided into four modules: fundus image preprocessing, fundus image quality evaluation, fundus image content detection and evaluation result output. The system was designed to automatically evaluate the image quality of each fundus image, identify the optic disc and macula, and judge whether the image was qualified or not according to the image quality discrimination rules. A total of 2 397 fundus images of 787 type 2 diabetes patients were selected as the test data set. The average age of the patients, including 384 males and 403 females, was (69.65±19.09) years old. The images were taken by the staff of community health service centers in Shanghai with a fundus camera. The fundus image quality assessment system was used to conduct quality control and classification of the data set. At the same time, 12 professional fundus picture readers were employed to conduct manual quality control and classification of this data set. The system quality control results and artificial quality discrimination results were compared and analyzed. Results: The fundus image quality assessment system automatically recognized left and right eyes and eye positions on the input fundus images. The quality control interface included four indicator lights, which respectively corresponded to the images with the optic disc or macula as the center of the left or right eye. Evaluation of each fundus image was completed within 1 second, and the results were automatically displayed on the user interface. The 2 397 fundus photos were identified manually as 1 846 qualified photos and 551 unqualified photos. Among the unqualified images, 62 (11.27%) were too dark, 51 (9.27%) were too bright, 59 (10.73%) were not clear in the macular area, 36 (6.54%) showed no macula or optic disc, 125 (22.73%) could not present the fundus structure, 175 (31.82%) were blurred, and 42 (7.64%) were blocked. The results of the system and manual assessment were consistent in 1 788 qualified images (96.86%) and 550 unqualified images (99.82%), with an overall consistency rate of 97.54%. Conclusion: The fundus image quality assessment system can achieve highly consistent results with the professional judgment of ophthalmologists and has the characteristics of objectivity. (Chin J Ophthalmol, 2020, 56:920-927).


Asunto(s)
Diabetes Mellitus Tipo 2 , Anciano , Anciano de 80 o más Años , China , Computadores , Femenino , Fondo de Ojo , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Tecnología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA