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Zigodactilia tipo 2
ORPHA:295189CID-10 · Q70.0CID-11 · LB79.YDOENÇA 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

📋

Zigodactilia tipo 2 é uma anomalia congênita rara caracterizada pela fusão parcial ou completa dos dedos dos pés, com o segundo e terceiro dedos sendo os mais comumente afetados. Frequentemente associada a outras malformações, pode variar em gravidade e impacto funcional.

Publicações científicas
22 artigos
Último publicado: 2019 Feb 18
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q70.0
🇧🇷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 pesquisa8
Total histórico22PubMed
Últimos 10 anos40publicações
Pico202318 papers
Linha do tempo
20202018Hoje · 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 2

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Publicações mais relevantes

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

The effect of breathing hypoxic gas (15% FIO2 ) on physiological and behavioral outcomes during simulated driving in healthy subjects.

Physiological reports2024 Mar

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.

#3

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.

#4

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.

#5

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

Journal of clinical lipidology2024

Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health. Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia. We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects. In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from -89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects. Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC11 artigos no totalmostrando 40

2024

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

Nature communications
2024

The effect of breathing hypoxic gas (15% FIO2 ) on physiological and behavioral outcomes during simulated driving in healthy subjects.

Physiological 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
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

Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.

Journal of hypertension
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

Repeated cold-water immersion improves autonomic cardiac modulation following five sessions of high-intensity interval exercise.

European journal of applied physiology
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

Organ Transplantation Outcomes of Deceased Organ Donors in Organ Procurement Organization-Based Recovery Facilities Versus Acute-Care Hospitals.

Progress in transplantation (Aliso Viejo, Calif.)
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

Cardiac Behavior and Heart Rate Variability in Elderly Hypertensive Individuals during Aerobic Exercise: A Non-Randomized Controlled Study.

International journal of environmental research and public health
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

Characterization of Short Chain Fatty Acids Produced by Selected Potential Probiotic Lactobacillus Strains.

Biomolecules
2023

Upgrading the genome of an elite japonica rice variety Kongyu 131 for lodging resistance improvement.

Plant biotechnology journal
2022

Efficacy of mucosal vaccination using a protozoan parasite as a vehicle for antigen delivery: IgG and neutralizing response after rectal administration of LeCoVax-2, a candidate vaccine against COVID-19.

Pharmacological research
2022

Autonomic and cardiorespiratory responses to the active tilt test in individuals with Parkinson disease: cross-sectional study.

Arquivos de neuro-psiquiatria
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
2023

Anti-cancer Properties of Potential Probiotics and Their Cell-free Supernatants for the Prevention of Colorectal Cancer: an In Vitro Study.

Probiotics and antimicrobial proteins
2022

Reliability of the heart rate variability threshold during treadmill exercise.

Clinical physiology and functional imaging
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
2023

Association of cardiac autonomic modulation with different intensities of physical activity in a small Brazilian inner city: A gender analysis.

European journal of sport science
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
2022

Hydration Influence on the Autonomic Recovery of the Coronary Diseases Patient: Geometric Indices Analysis.

Research quarterly for exercise and sport
2022

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

Journal of strength and conditioning research
2020

Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing.

Clinica chimica acta; international journal of clinical chemistry
2018

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

European journal of human genetics : EJHG

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. The effect of breathing hypoxic gas (15% FIO2 ) on physiological and behavioral outcomes during simulated driving in healthy subjects.
    Physiological reports· 2024· PMID 38439737mais citado
  3. 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
  4. 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
  5. Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.
    Journal of clinical lipidology· 2024· PMID 37989694mais 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:295189(Orphanet)
  2. MONDO:0017543(MONDO)
  3. GARD:21214(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787167(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 2
Compêndio · Raras BR

Zigodactilia tipo 2

ORPHA:295189 · MONDO:0017543
CID-10
Q70.0 · Coalescência dos dedos (dedos da mão fundidos)
CID-11
MedGen
UMLS
C5679982
EuropePMC
Wikidata
Papers 10a
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