Raras
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Zigodactilia tipo 1
ORPHA:295187CID-10 · Q70.3CID-11 · LB79.YOMIM 609815DOENÇA RARA

O pica-pau-bico-de-marfim ou pica-pau-de-bico-marfim é uma espécie de pica-pau possivelmente extinto, nativo dos pântanos norte-americanos e das florestas temperadas de coníferas do sul dos Estados Unidos e de Cuba. A destruição de seu habitat e a caça reduziram as populações de forma tão devastadora que a espécie está listada como Criticamente Ameaçada na Lista Vermelha da IUCN, e como "definitivamente ou provavelmente extinta" pela American Birding Association. O último avistamento universalmente aceito de um pica-pau-bico-de-marfim americano ocorreu na Luisiana em 1944, e o último avistamento universalmente aceito de um pica-pau-bico-de-marfim cubano ocorreu em 1987; relatos esporádicos de avistamentos e outras evidências da persistência da espécie continuaram desde então.

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Introdução

O que você precisa saber de cara

📋

Condição congênita rara caracterizada pela fusão parcial ou completa dos dedos dos pés, tipicamente o segundo e o terceiro. Pode afetar um ou ambos os pés, com graus variados de severidade.

Publicações científicas
22 artigos
Último publicado: 2019 Feb 18
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q70.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa9
Total histórico22PubMed
Últimos 10 anos37publicações
Pico202315 papers
Linha do tempo
20202017Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Zigodactilia tipo 1

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
8 papers (10 anos)
#1

The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86.

Nature communications2024 Mar 28

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.

#2

Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride.

Animal : an international journal of animal bioscience2024 Apr

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.

#3

Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women.

Scientific reports2024 Mar 06

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.

#4

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology2024

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. 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. 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. 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.

#5

Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study.

Women &amp; health2024 Feb 07

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 (β = -0.94; 95 percent CI: -1.93; 0.04; p = .060) and SD1/SD2 (β = -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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC11 artigos no totalmostrando 37

2024

The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86.

Nature communications
2024

Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride.

Animal : an international journal of animal bioscience
2024

Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women.

Scientific reports
2024

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology
2024

Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study.

Women &amp; health
2023

Towards Quantifying Stress in Patients with a History of Myocardial Infarction: Validating ECG-Derived Patch Features.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2023

Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study.

The Medical journal of Malaysia
2024

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Journal of clinical lipidology
2023

Heart rate variability at rest and in response to stress: Comparative study between hemodialysis and peritoneal dialysis patients.

Experimental biology and medicine (Maywood, N.J.)
2024

Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.

The Journal of asthma : official journal of the Association for the Care of Asthma
2023

The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal.

Noise &amp; health
2023

Interactions between sulfonamide homologues and glycosyltransferase induced metabolic disorders in rice (Oryza sativa L.).

Environmental pollution (Barking, Essex : 1987)
2024

Evaluation of cardiac autonomic function and low-grade inflammation in children with obesity living in the Northeast Brazilian region.

Jornal de pediatria
2023

Identification of broad, potent antibodies to functionally constrained regions of SARS-CoV-2 spike following a breakthrough infection.

Proceedings of the National Academy of Sciences of the United States of America
2023

Longitudinal outcomes for educational placement and quality of life in a prospectively recruited multinational cohort of children with cochlear implants.

International journal of pediatric otorhinolaryngology
2023

A Nonrandomized Trial of the Effects of Passive Simulated Jogging on Short-Term Heart Rate Variability in Type 2 Diabetic Subjects.

Journal of diabetes research
2023

Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice.

PloS one
2023

Deciphering the network of cholesterol biosynthesis in Paris polyphylla laid a base for efficient diosgenin production in plant chassis.

Metabolic engineering
2023

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Nutrients
2023

Combined genome-wide association study and epistasis analysis reveal multifaceted genetic architectures of plant height in Asian cultivated rice.

Plant, cell &amp; environment
2023

Soluble amyloid-β precursor peptide does not regulate GABAB receptor activity.

eLife
2023

Muscle metaboreflex activation during hypercapnia modifies nonlinear heart rhythm dynamics, increasing the complexity of the sinus node autonomic regulation in humans.

Pflugers Archiv : European journal of physiology
2022

Stable Recombinant Invasion Plasmid Antigen C (IpaC)-Based Single Dose Nanovaccine for Shigellosis.

Molecular pharmaceutics
2022

Effect of Delta and Omicron Mutations on the RBD-SD1 Domain of the Spike Protein in SARS-CoV-2 and the Omicron Mutations on RBD-ACE2 Interface Complex.

International journal of molecular sciences
2022

Factors important in the correct evaluation of oral high-risk lesions during the telehealth era.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2022

A neutralizing epitope on the SD1 domain of SARS-CoV-2 spike targeted following infection and vaccination.

Cell reports
2022

Reliability of the heart rate variability threshold during treadmill exercise.

Clinical physiology and functional imaging
2022

Sdr4 dominates pre-harvest sprouting and facilitates adaptation to local climatic condition in Asian cultivated rice.

Journal of integrative plant biology
2022

Study on the nonfatigue and fatigue states of orchard workers based on electrocardiogram signal analysis.

Scientific reports
2022

1.7 cm elongated Achilles tendon did not alter walking gait kinematics 4.5 years after non-surgical treatment.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2022

Physicochemical characterization of the recombinant lectin scytovirin and microbicidal activity of the SD1 domain produced in rice against HIV-1.

Plant cell reports
2021

Impaired vagal adaptation to an exercise task in women with gestational diabetes mellitus versus women with uncomplicated pregnancies.

Hormones (Athens, Greece)
2022

Heart rate variability kinetics during different intensity domains of cycling exercise in healthy subjects.

European journal of sport science
2023

Is Musical Auditory Stimulation Able to Influence the Recovery of Autonomic Modulation After Exercise?

Alternative therapies in health and medicine
2019

Haplotype Characterization of the sd1 Semidwarf Gene in United States Rice.

The plant genome
2022

Associations Between Heart Rate Variability-Derived Indexes and Training Load: Repeated Measures Correlation Approach Contribution.

Journal of strength and conditioning research
2017

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Molecular medicine reports

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86.
    Nature communications· 2024· PMID 38548763mais citado
  2. Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride.
    Animal : an international journal of animal bioscience· 2024· PMID 38471266mais citado
  3. Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women.
    Scientific reports· 2024· PMID 38448470mais citado
  4. Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.
    International journal of radiation biology· 2024· PMID 38285971mais citado
  5. Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study.
    Women &amp; health· 2024· PMID 38229419mais citado
  6. Oldest Finch-Beaked Birds Reveal Parallel Ecological Radiations in the Earliest Evolution of Passerines.
    Curr Biol· 2019· PMID 30744971recente
  7. Behavioral correlates of semi-zygodactyly in Ospreys (Pandion haliaetus) based on analysis of internet images.
    PeerJ· 2019· PMID 30740269recente
  8. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
    Eur J Hum Genet· 2018· PMID 29581481recente
  9. Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes.
    Diabetes Care· 2018· PMID 29472431recente
  10. Early Paleocene landbird supports rapid phylogenetic and morphological diversification of crown birds after the K-Pg mass extinction.
    Proc Natl Acad Sci U S A· 2017· PMID 28696285recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:295187(Orphanet)
  2. MONDO:0012351(MONDO)
  3. GARD:17357(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55999845(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Zigodactilia tipo 1
Compêndio · Raras BR

Zigodactilia tipo 1

ORPHA:295187 · MONDO:0012351
CID-10
Q70.3 · Artelhos palmados
CID-11
OMIM
609815
MedGen
UMLS
C1853294
EuropePMC
Wikidata
Papers 10a
Evidência
🥉 Relato de caso
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