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1.
Microsurgery ; 44(4): e31161, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38656753

RESUMO

BACKGROUND: Palmar finger or pulp defects require coverage with glabrous tissue to achieve a good match with the lost tissue. The management of multiple finger palmar or pulp defects is challenging because these defects may not always be suitable for local or pedicled flaps. In such situations, syndactylizing free or pedicled flaps can be used. PATIENTS AND METHODS: We evaluated the results of free glabrous flaps syndactylizing across multiple finger defects. The two flaps used were the superficial branch of the radial artery (SUPBRA) flap and hypothenar free flap. Seven syndactylized glabrous free flaps were used to cover the defects in 16 fingers. The functional results and complaints were also assessed. RESULTS: Mean flap size was 14.35 cm2. Six flaps survived. Postoperative evaluation data were obtained for the 13 fingers. All the patients returned to their previous work. All patients had a diminished protective sensation of at least 4.31 according to the SWM test. The mean two-point discrimination score of the patients was 9.9 mm (7-14). One finger had a PIP joint flexion contracture of 30°, no donor-site complaints were observed. CONCLUSION: The advantages of these flaps include single operation site, strong glabrous tissue coverage, low risk of flexion contracture, and adequate tissue size for large defects. Disadvantages include two-stage and complex microsurgical operations, prolonged treatment, and hospital stay.


Assuntos
Traumatismos dos Dedos , Retalhos de Tecido Biológico , Procedimentos de Cirurgia Plástica , Humanos , Masculino , Traumatismos dos Dedos/cirurgia , Adulto , Feminino , Procedimentos de Cirurgia Plástica/métodos , Retalhos de Tecido Biológico/irrigação sanguínea , Retalhos de Tecido Biológico/transplante , Pessoa de Meia-Idade , Adulto Jovem , Sindactilia/cirurgia , Resultado do Tratamento , Estudos Retrospectivos , Adolescente , Microcirurgia/métodos , Sobrevivência de Enxerto
2.
Bone Res ; 12(1): 21, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38561387

RESUMO

Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) of HOXD13 in a large Chinese family with SDTY5. In order to substantiate the pathogenicity of the variant and elucidate the underlying pathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed to generate a Hoxd13Q50R mutant mouse. The mutant mice exhibited obvious limb malformations including slight brachydactyly and partial syndactyly between digits 2-4 in the heterozygotes, and severe syndactyly, brachydactyly and polydactyly in homozygotes. Focusing on BMP2 and SHH/GREM1/AER-FGF epithelial mesenchymal (e-m) feedback, a crucial signal pathway for limb development, we found the ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud at E10.5 to E12.5. A transcriptome sequencing analysis was conducted on limb buds (LBs) at E11.5, revealing 31 genes that exhibited notable disparities in mRNA level between the Hoxd13Q50R homozygotes and the wild-type. These genes are known to be involved in various processes such as limb development, cell proliferation, migration, and apoptosis. Our findings indicate that the ectopic expression of Shh and Fgf8, in conjunction with the down-regulation of Bmp2, results in a failure of patterning along both the anterior-posterior and proximal-distal axes, as well as a decrease in interdigital programmed cell death (PCD). This cascade ultimately leads to the development of syndactyly and brachydactyly in heterozygous mice, and severe limb malformations in homozygous mice. These findings suggest that abnormal expression of SHH, FGF8, and BMP2 induced by HOXD13Q50R may be responsible for the manifestation of human SDTY5.


Assuntos
Braquidactilia , Deformidades Congênitas dos Membros , Sindactilia , Camundongos , Humanos , Animais , Proteínas Hedgehog/genética , Fatores de Transcrição/genética , Sindactilia/genética
3.
Neoreviews ; 25(5): e282-e285, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38688887
4.
Nature ; 628(8009): 818-825, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38658687

RESUMO

Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions1. TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as opposed to its counterpart exon 8. We previously uncovered several phenotypes in neurons derived from patients with TS1, including delayed channel inactivation, prolonged depolarization-induced calcium rise, impaired interneuron migration, activity-dependent dendrite retraction and an unanticipated persistent expression of exon 8A2-6. We reasoned that switching CACNA1C exon utilization from 8A to 8 would represent a potential therapeutic strategy. Here we developed antisense oligonucleotides (ASOs) to effectively decrease the inclusion of exon 8A in human cells both in vitro and, following transplantation, in vivo. We discovered that the ASO-mediated switch from exon 8A to 8 robustly rescued defects in patient-derived cortical organoids and migration in forebrain assembloids. Leveraging a transplantation platform previously developed7, we found that a single intrathecal ASO administration rescued calcium changes and in vivo dendrite retraction of patient neurons, suggesting that suppression of CACNA1C exon 8A expression is a potential treatment for TS1. Broadly, these experiments illustrate how a multilevel, in vivo and in vitro stem cell model-based approach can identify strategies to reverse disease-relevant neural pathophysiology.


Assuntos
Transtorno Autístico , Síndrome do QT Longo , Oligonucleotídeos Antissenso , Sindactilia , Animais , Feminino , Humanos , Masculino , Camundongos , Processamento Alternativo/efeitos dos fármacos , Processamento Alternativo/genética , Transtorno Autístico/tratamento farmacológico , Transtorno Autístico/genética , Cálcio/metabolismo , Canais de Cálcio Tipo L/metabolismo , Canais de Cálcio Tipo L/genética , Movimento Celular/efeitos dos fármacos , Dendritos/metabolismo , Éxons/genética , Síndrome do QT Longo/tratamento farmacológico , Síndrome do QT Longo/genética , Neurônios/metabolismo , Neurônios/efeitos dos fármacos , Oligonucleotídeos Antissenso/farmacologia , Oligonucleotídeos Antissenso/uso terapêutico , Organoides/efeitos dos fármacos , Organoides/metabolismo , Prosencéfalo/metabolismo , Prosencéfalo/citologia , Sindactilia/tratamento farmacológico , Sindactilia/genética , Interneurônios/citologia , Interneurônios/efeitos dos fármacos
6.
Rev. esp. patol ; 57(1): 64-66, ene.-mar. 2024. ilus
Artigo em Espanhol | IBECS | ID: ibc-229925

RESUMO

El síndrome de Fraser o síndrome criptoftalmos/sindactilia es una enfermedad genética rara, cuyo diagnóstico se basa en una serie de criterios clínicos mayores y menores, y que puede apoyarse en pruebas genéticas. En este artículo se presenta el caso de una autopsia fetal de 37 semanas de gestación con sospecha de síndrome de CHAOS (síndrome obstructivo congénito de las vías aéreas altas). (AU)


Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways). (AU)


Assuntos
Humanos , Feminino , Gravidez , Síndrome de Fraser/diagnóstico , Autopsia , Doenças Fetais , Doenças Raras/diagnóstico , Sindactilia , Doenças Genéticas Inatas/diagnóstico
7.
Rev. esp. patol ; 57(1): 64-66, ene.-mar. 2024. ilus
Artigo em Espanhol | IBECS | ID: ibc-EMG-545

RESUMO

El síndrome de Fraser o síndrome criptoftalmos/sindactilia es una enfermedad genética rara, cuyo diagnóstico se basa en una serie de criterios clínicos mayores y menores, y que puede apoyarse en pruebas genéticas. En este artículo se presenta el caso de una autopsia fetal de 37 semanas de gestación con sospecha de síndrome de CHAOS (síndrome obstructivo congénito de las vías aéreas altas). (AU)


Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways). (AU)


Assuntos
Humanos , Feminino , Gravidez , Síndrome de Fraser/diagnóstico , Autopsia , Doenças Fetais , Doenças Raras/diagnóstico , Sindactilia , Doenças Genéticas Inatas/diagnóstico
8.
BMC Pregnancy Childbirth ; 24(1): 216, 2024 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-38521899

RESUMO

OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly. RESULTS: Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78-17.33), 2.23‰ (95%CI: 2.13-2.33), and 0.74‰ (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12-1.50). CONCLUSION: In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.


Assuntos
Anormalidades Congênitas , Polidactilia , Sindactilia , Masculino , Feminino , Humanos , Adulto , Polidactilia/epidemiologia , Sindactilia/epidemiologia , Idade Materna , China/epidemiologia , Prevalência , Anormalidades Congênitas/epidemiologia
9.
Animal ; 18(4): 101114, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38471266

RESUMO

Cooling down is essential for horse recovery before veterinary inspection during an endurance ride. As salt potentially decreases water temperature, we tested whether adding salt to the water used to cool horses could aid their recovery. Twelve healthy Arabian horses participating in a novice endurance ride were divided evenly into two groups. Heart rate variability (HRV) variables, including time and frequency domains, non-linear results, and autonomic nervous system indices, were determined before recovery and at 1-min intervals for 9 min during recovery using either cold or cold-saline water. An interaction between water type and time was observed in the modulation of the SD of beat-to-beat (RR) intervals, square root of the mean squared differences between successive RR intervals (RMSSD), HRV triangular index, very low-frequency band (VLF), low-frequency band/high-frequency band ratio, and SD of the Poincaré plot perpendicular to the line of identity (SD1) non-linear results. A decrease in heart rate and the sympathetic nervous system index corresponding to an increase in RR intervals and the parasympathetic nervous system (PNS) index was observed over time. A rise in the triangular interpolation of the normal-to-normal intervals, number of successive RR interval pairs that differ more than 50 ms, low-frequency band, and total power, coinciding with decreased stress index, was detected at 9 min of recovery. A difference between RMSSD and SD1 was observed between groups, in which they were higher in horses cooling with cold-saline water when compared to cold water at 5 min after cooling began. An increase in VLF was seen at 9 min only in horses cooled with cold-saline water. In conclusion, different water types distinctly impacted HRV in horses. The predominant PNS activity in horses recovering with cold-saline water reflects its positive impact on cooling during an endurance ride.


Assuntos
Sistema Nervoso Autônomo , Temperatura Baixa , Sindactilia , Cavalos , Animais , Sistema Nervoso Autônomo/fisiologia , Frequência Cardíaca/fisiologia
10.
Nat Commun ; 15(1): 2734, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548763

RESUMO

Under pressure from neutralising antibodies induced by vaccination or infection the SARS-CoV-2 spike gene has become a hotspot for evolutionary change, leading to the failure of all mAbs developed for clinical use. Most potent antibodies bind to the receptor binding domain which has become heavily mutated. Here we study responses to a conserved epitope in sub-domain-1 (SD1) of spike which have become more prominent because of mutational escape from antibodies directed to the receptor binding domain. Some SD1 reactive mAbs show potent and broad neutralization of SARS-CoV-2 variants. We structurally map the dominant SD1 epitope and provide a mechanism of action by blocking interaction with ACE2. Mutations in SD1 have not been sustained to date, but one, E554K, leads to escape from mAbs. This mutation has now emerged in several sublineages including BA.2.86, reflecting selection pressure on the virus exerted by the increasing prominence of the anti-SD1 response.


Assuntos
Anticorpos Neutralizantes , COVID-19 , Sindactilia , Humanos , SARS-CoV-2/genética , Anticorpos Monoclonais , Epitopos , Glicoproteína da Espícula de Coronavírus/genética , Anticorpos Antivirais
11.
Physiol Rep ; 12(5): e15963, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38439737

RESUMO

Hypoxia is mainly caused by cardiopulmonary disease or high-altitude exposure. We used a driving simulator to investigate whether breathing hypoxic gas influences driving behaviors in healthy subjects. Fifty-two healthy subjects were recruited in this study, approved by the Science and Engineering Ethical Committee. During simulated driving experiments, driving behaviors, breathing frequency, oxygen saturation (SpO2 ), and heart rate variability (HRV) were analyzed. Each subject had four driving sessions; a 10-min practice and three 20-min randomized interventions: normoxic room air (21% FIO2 ) and medical air (21% FIO2 ) and hypoxic air (equal to 15% FIO2 ), analyzed by repeated measures ANOVA. Driving behaviors and HRV frequency domains showed no significant change. Heart rate (HR; p < 0.0001), standard deviation of the RR interval (SDRR; p = 0.03), short-term HRV (SD1; p < 0.0001), breathing rate (p = 0.01), and SpO2 (p < 0.0001) were all significantly different over the three gas interventions. Pairwise comparisons showed HR increased during hypoxic gas exposure compared to both normoxic interventions, while SDRR, SD1, breathing rate, and SpO2 were lower. Breathing hypoxic gas (15% FiO2 , equivalent to 2710 m altitude) may not have a significant impact on driving behavior in healthy subjects. Furthermore, HRV was negatively affected by hypoxic gas exposure while driving suggesting further research to investigate the impact of breathing hypoxic gas on driving performance for patients with autonomic dysfunction.


Assuntos
Altitude , Doenças do Sistema Nervoso Autônomo , Sindactilia , Humanos , Voluntários Saudáveis , Hipóxia
12.
Sci Rep ; 14(1): 5526, 2024 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-38448470

RESUMO

The present study sought to expand upon prior investigations of the relationship between post-exercise heart rate recovery (HRR) and cardiovagal resting-reactivity modulation. HRR from 1st to 5th min after maximal exercise test was correlated with a cardiovagal index of heart rate variability (SD1) at resting (supine and orthostatic positions) and its reactivity after the orthostatic stress test in 34 healthy women. Statistical analysis employed non-parametric tests with a p-value set at 5%. HRR, ∆%HRR, and coefficient of HRR (CHRR) at the 3rd and 5th min correlated with SD1 and SD1n (normalized units) in the supine position (rs = 0.36 to 0.47; p = < 0.01). From the 1st to 5th min, HRR, ∆%HRR, and CHRR correlated with SD1 and SD1n in the orthostatic position (rs = 0.29 to 0.47; p = ≤ 0.01 to 0.05), except for HRR at 5th min with SD1n (p = 0.06). Following the orthostatic stress test, HRR at 3rd and HRR, %∆HRR at 5th min correlated with ∆absSD1 (rs = 0.28 to 0.35; p = 0.02 to 0.05). All HRR measurements at 1st min correlated with ∆absSD1n (rs = 0.32 to 0.38; p = 0.01 to 0.03), and the CHRR at 1st min correlated with ∆%SD1(rs = 0.37; p = 0.01). After the sample was divided into high and low cardiovagal modulation subgroups, the subgroup with high modulation at rest (supine and orthostatic) and higher cardiovagal reactivity (reduction) showed faster HRR (p = ≤ 0.01 to 0.05; ES:0.37 to 0.50). HRR throughout the 1st to 5th min positively correlates with cardiovagal modulation in the orthostatic position, and the 3rd and 5th min positively correlate with cardiovagal modulation in both postures at rest. Faster HRR following the maximal exercise test is associated with high resting-reactivity cardiovagal modulation in healthy women.


Assuntos
Teste de Esforço , Nível de Saúde , Sindactilia , Humanos , Feminino , Frequência Cardíaca , Recuperação após o Exercício
13.
Int Arch Occup Environ Health ; 97(4): 461-471, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38429581

RESUMO

PURPOSE: Whether chronotype affects the health outcomes of night shift work populations is unknown. This study aimed to assess the influence of different chronotypes in the rotating night shift population on sleep status, mood, blood pressure (BP), and heart rate variability (HRV), as well as the circadian rhythm of BP and HRV. METHODS: A total of 208 rotating night shift workers were included. All participants completed structured questionnaires to assess chronotype, mood and sleep status. During their daily lives outside of the night shift, they underwent 24-hour Holter electrocardiogram monitoring and 24-hour ambulatory blood pressure monitoring. Day-time and night-time BP and BP dipping were obtained. Day-time and night-time HRV values (SDNN, RMSSD, LF, HF, LF nu, SD1, SD2 and SD2/SD1) were calculated and fitted to the cosine period curve. Three circandian parameters (mesor, amplitude and acrophase) were extracted to quantify the circadian rhythm of the HRV indices. RESULTS: Among all three groups, E-type showed more fatigue and sleepiness. In addition, E-type showed blunted diastolic BP dipping. Notably, E-type showed association with higher RMSSD, LF, HF and SD1 in the night time, and higher mesors of RMSSD and LF and amplitude of SD2/SD1 in circadian analysis. CONCLUSION: Chronotype is a factor affecting fatigue, sleepiness and cardiovascular circadian rhythms of rotating night shift workers. Chronotype should be taken into consideration for managing night-shift rotation to promote occupational health.


Assuntos
Monitorização Ambulatorial da Pressão Arterial , Cronotipo , Sindactilia , Humanos , Sonolência , Sono/fisiologia , Ritmo Circadiano/fisiologia , Fadiga , Tolerância ao Trabalho Programado/fisiologia
14.
Surg Radiol Anat ; 46(4): 501-506, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38310170

RESUMO

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.


Assuntos
Anormalidades Múltiplas , Anormalidades Congênitas , Síndrome de Fraser , Nefropatias/congênito , Rim/anormalidades , Sindactilia , Anormalidades Urogenitais , Humanos , Feminino , Gravidez , Adulto Jovem , Adulto , Síndrome de Fraser/diagnóstico , Sindactilia/diagnóstico , Anormalidades Múltiplas/diagnóstico , Variação Anatômica
15.
Microsurgery ; 44(2): e31151, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38363104

RESUMO

INTRODUCTION: Foot-syndactyly has long been managed through conventional surgical procedures, each having its own distinct advantages and drawbacks. While these methods, which do not require skin grafts, exhibit a lower incidence of long-term complications, they lead to undesirable scarring on the dorsal side of the foot and reduced patient satisfaction. In this study, we introduce an innovative technique involving an intermetatarsal plantar flap, supported by an anatomical investigation and clinical application. METHODS: Eight freshly preserved lower limbs were injected with colored latex to examine the cutaneous vessels on the plantar surface, a skin-flap was designed in an elliptical shape to address first web conjoined toes. The flap was extended from the center of each affected ray measuring ~30% of the sole's length. Using the mentioned novel approach, a flap was created and dorsally extended with a straight incision to release bilateral simple foot-syndactyly in an 8-year-old child presented with Apert's Syndrome. RESULTS: We identified cutaneous branches originating either from the medial plantar vessels or the lateral proper artery of the hallux. On average, the mean number of cutaneous branches found over the first intermetatarsal web spaces was 5.8 (ranging from 5 to 8) most of them originating from medial plantar vessels with a mean of 5.1 branches (range 4-6) while proper lateral great-toe digital artery provided a mean of 0.6 branches (range 0-2). Intra-operatively, in our patient, advancing the plantar flap ensured complete coverage of the commissure, obviating the necessity for skin grafts. Incisions healed uneventfully and a wide first web was obtained. Over a 15 months follow-up, no complications were observed. CONCLUSIONS: Our findings suggest that the skin-graftless first web release of syndactyly using a plantar intermetatarsal flap is a reliable and straightforward procedure with good cosmetic results, offering a promising alternative to conventional techniques. LEVEL OF EVIDENCE: Therapeutic IV.


Assuntos
Retalho Perfurante , Procedimentos de Cirurgia Plástica , Sindactilia , Criança , Humanos , Retalho Perfurante/cirurgia , Dedos do Pé/cirurgia , Transplante de Pele/métodos , Sindactilia/cirurgia , Resultado do Tratamento
16.
Int J Radiat Biol ; 100(4): 650-662, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38285971

RESUMO

PURPOSE: The 'Improved White Ponni' (IWP) rice variety, which is susceptible to lodging, leading to yield losses. Our primary goal is to develop new rice lines with non-lodging traits, enhancing stem strength and resistance to adverse conditions. Additionally, we aim to improve yield-contributing agronomic traits, benefiting farmers, food security, and the environment. Our work contributes to scientific knowledge and addresses a significant issue in Southern Indian rice cultivation. MATERIALS AND METHODS: In the present study, early and semi-dwarf early mutants of IWP were developed without altering the native grain quality traits using gamma ray-mediated mutagenesis. The seeds (500) were irradiated with γ-rays after fixing the Lethal Dose 50 (LD50), and selection for semi-dwarfism and earliness was imposed on a large M2 population. The selected traits were confirmed by evaluating the M3 lines at morpho-physiological, biochemical, and molecular levels. RESULTS: The response of mutants to gibberellic acid has been studied, which identified responsive mutants as well as slow-responding mutant lines including IWP-11-2, IWP-48-2, IWP-50-11, and IWP-33-2. Agar plate assay indicated low α- amylase content in IWP-50-11, IWP-33-2, IWP-43-1, IWP-47-2, and IWP-18-1. The scanning electron microscopy demonstrated that the mutants displayed an increased cellular dimension in comparison to the wild type. In dwarf mutants, null alleles were observed for the SD1 gene-specific primers which depicts gene undergone mutation. Further sequencing revealed the presence of single nucleotide polymorphisms in the SD1 gene resulting in semi-dwarfism in the mutant IWP-D-1. CONCLUSIONS: The impact of a defective gibberellic acid-mediated signaling pathway in mutants to produce a novel high-yielding and early maturing semi-dwarf rice variety.


Assuntos
Nanismo , Giberelinas , Oryza , Sindactilia , Oryza/genética , Raios gama , Polimorfismo de Nucleotídeo Único , Fenótipo
17.
Women Health ; 64(2): 165-174, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38229419

RESUMO

This longitudinal study aimed to analyze the influence of physical activity (PA) on the relationship between body adiposity and cardiac autonomic modulation (CAM) in women survivors of breast cancer. We collected body adiposity through electrical bioimpedance considering body fat percentage (BFP), CAM through heart rate variability (considering RMSSD, SDNN, PNN50, LF (m2), HF (m2), SD1 indexes and SD1/SD2 ratio) and PA through a questionnaire in 64 participants (58.0 ± 9.6 years), recruited through the local association of support for breast cancer and by direct indications from city mastologists. After insertion of PA into the multivariate statistical model, significant attenuation was observed in the relationship between body adiposity and CAM for the indices: SDNN (ß = -0.94; 95 percent CI: -1.93; 0.04; p = .060) and SD1/SD2 (ß = -0.01;95 percent CI = -0.02; 0.001; p = .065). In conclusion, it was observed that PA was able to mitigate the relationships between BFP and CAM (considering SDNN index and SD1/SD2 ratio) in breast cancer survivors.


Assuntos
Neoplasias da Mama , Sobreviventes de Câncer , Sindactilia , Humanos , Feminino , Adiposidade , Estudos Longitudinais , Obesidade , Exercício Físico/fisiologia , Frequência Cardíaca/fisiologia
19.
J Foot Ankle Surg ; 63(2): 220-225, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37951458

RESUMO

Little is known about functional outcomes in children with treated lower extremity polydactyly (LEP). No classification system has been shown to be prognostically useful for functional outcomes. This study investigates whether children with treated LEP learn to walk at an age comparable to the population and whether the SAM (severity of syndactyly, axis deviation and metatarsal involvement) classification system is prognostically useful. In a retrospective cohort of 18 patients, we tested for associations between patient characteristics and SAM scores, age at learning to walk, and ability to fit off-the-shelf shoes. The proportion of children with treated LEP able to walk at 18 months of age was compared with the general population. We found no association between the age at which the 17 participants learned to walk and the severity of syndactyly (p = .214), axis deviation (p = .723) and metatarsal involvement (p = .781), nor between the proportion of patients able to wear off-the-shelf shoes compared to those requiring extra wide off-the-shelf shoes and the severity of syndactyly (p = 1.000), axis deviation (p = 1.000) and metatarsal involvement (p = 1.000). We found a trend between older age at surgery and the need for extra wide off-the-shelf shoes (OR = 1.008, p = .080). We found no significant difference in the proportion of children able to walk at 18 months between our patients (proportion = 1.00) and the general population (proportion = 0.95) (p = 1.000). We found no significant association between different SAM scores and functional outcomes, and none in the proportion of children able to walk at 18 months between treated LEP patients and the general population.


Assuntos
Polidactilia , Sindactilia , Criança , Humanos , Dedos do Pé/cirurgia , Estudos Retrospectivos , , Polidactilia/cirurgia , Sindactilia/cirurgia
20.
J Asthma ; 61(4): 307-312, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37847783

RESUMO

PURPOSE: To evaluate referral rates and factors associated with referrals to a community agency for children evaluated for an asthma exacerbation at a pediatric emergency department (PED) and compare PED visits for asthma the following year between those referred and not referred. METHODS: We reviewed electronic health records of children 2-18 years evaluated in our PED from 01/01/2019 to 12/31/2019 with an ICD-10 diagnostic code for asthma (J45x) following the introduction of a portal where clinicians could refer children to a community agency focused on improving health outcomes for asthma. We abstracted data on demographics, PED visits, and hospitalizations and used multivariate logistic regression to evaluate factors associated with referrals. RESULTS: Of the 2262 charts analyzed, the majority of patients were male (61%), Black (76%), and held public insurance (71%). Only a minority of patients (n = 140, 6%) were referred. Age [6-12 years (AOR: 1.93, 95% CI: 1.21-3.08, p = .006), 13-18 years (AOR: 10.61, 95% CI: 6.53-17.24, p = .001)] and lifetime number of PED asthma visits [≥3 visits (AOR: 1.91, 95% CI, 1.01-3.62, p = .05)] were associated with referral. There was no significant difference in the mean number of PED visits in one year [referred: 0.59 (SD1.2) vs. not referred: 0.79 (SD1.3), t = 1.70, p = .09] between the two groups. CONCLUSION: The referral rate to community agency from PED for asthma is low. There was no difference in short-term PED utilization for asthma between those referred and not referred.


Assuntos
Asma , Sindactilia , Criança , Humanos , Masculino , Feminino , Estudos Retrospectivos , Asma/diagnóstico , Asma/epidemiologia , Asma/terapia , Encaminhamento e Consulta , Serviço Hospitalar de Emergência , Hospitais Pediátricos
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