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1.
Aust Crit Care ; 37(3): 436-440, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-37120336

RESUMO

BACKGROUND: There is a lack of data surrounding the use of therapeutic caffeine among adults admitted to intensive care units (ICUs). OBJECTIVES: The objective of this study was to determine reported caffeine use and withdrawal symptoms among patients admitted to the ICU to inform future prospective interventional trials. METHODS: This study used a cross-sectional survey design, where a survey was conducted by a registered dietitian among 100 adult patients admitted to an ICU in Brisbane, Australia. RESULTS: The median age of patients was 59.8 y (interquartile range: 44.0-70.0), and 68% were male. Ninety-nine percent of patients had daily consumption of caffeine with a median 338 mg (interquartile range: 162-504). Caffeine consumption was self-reported in 89% of patients and was uncovered by detailed identification in 10%. Almost one-third (29%) reported caffeine withdrawal symptoms while admitted to intensive care. Common withdrawal symptoms reported were headaches, irritability, fatigue, anxiety, and constipation. Eighty-eight percent of patients reported willingness to participate in future studies of therapeutic caffeine if they were admitted to the ICU. Preferred methods of parenteral and enteral routes of administration varied by patient and illness characteristics. CONCLUSIONS: Patients admitted to this ICU were ubiquitous consumers of caffeine before admission, and one-tenth were unaware. Patients viewed trials of therapeutic caffeine as highly acceptable. The results provide important baseline information for future prospective studies.


Assuntos
Cafeína , Síndrome de Abstinência a Substâncias , Adulto , Humanos , Masculino , Feminino , Estudos Prospectivos , Estudos Transversais , Unidades de Terapia Intensiva
2.
Anesth Analg ; 136(3): 483-493, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36469483

RESUMO

BACKGROUND: Obese patients desaturate rapidly during the apneic period after induction of anesthesia for elective surgery. Administration of oxygen using high-flow nasal cannulae (HFNCs) may prevent desaturation in nonobese patients compared to facemask (FM) preoxygenation. The aim of this meta-analysis was to compare the effectiveness of HFNC to FM preoxygenation techniques in reducing preintubation desaturation in obese patients undergoing elective surgery. METHODS: This study protocol was registered on PROSPERO (CRD42022309391). Adult studies that compared HFNC and FM preoxygenation in obese patients requiring general anesthesia for elective surgery were included. The primary outcome was desaturation resulting in oxygen saturation of <92% from induction of anesthesia until intubation. Secondary outcomes included the lowest arterial oxygen content before intubation expressed in mm Hg, safe apnea time expressed in seconds, the lowest oxygen saturation before intubation expressed as a percentage, patient-reported discomfort, the need for rescue ventilation, and the incidence of aspiration of gastric contents during intubation. Risk of bias was assessed using the Cochrane Collaboration tool. Certainty was assessed following the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. RESULTS: Six studies including 351 participants were eligible for analysis. There was no difference in odds of oxygen desaturation <92% between HFNC and FM (odds ratio [OR], 0.49; 95% confidence interval [CI], 0.15-1.63; P = .24). The HFNC group had a significantly longer safe apnea time (mean difference [MD], -124.20 with 95% CI, -200.47 to -47.93; P = .001). There was no difference between HFNC and FM in the lowest arterial oxygen content (MD, -23.90; 95% CI, -88.64 to 40.85; P = .47) and the lowest peripheral oxygenation saturation (MD, -0.47 with 95% CI, -5.07 to 4.12; P = .84). HFNC had a lower odd of discomfort than FM (OR, 0.13; 95% CI, 0.03-0.52; P = .004). There was no difference in the odds of aspiration of gastric contents between HFNC and FM (OR, 0.33; 95% CI, 0.01-8.21; P = .50). The risk of bias for our primary and secondary outcomes was low. The GRADE assessment for our primary outcome indicated a low level of certainty. For secondary outcomes, the GRADE assessment indicated a very low certainty for all outcomes except for patient discomfort, which was indicated as a moderate level of certainty. CONCLUSIONS: There may be no difference between HFNC and FM preoxygenation in preventing oxygen desaturation <92% or the lowest oxygen saturation before intubation. Preparation remains important to prevent and manage desaturation during induction of obese patients.


Assuntos
Apneia , Cânula , Adulto , Humanos , Apneia/diagnóstico , Apneia/terapia , Intubação Intratraqueal/efeitos adversos , Intubação Intratraqueal/métodos , Oxigênio , Oxigenoterapia/efeitos adversos , Obesidade/diagnóstico , Anestesia Geral/efeitos adversos
3.
Chirality ; 35(12): 920-936, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37343226

RESUMO

Chirality was traditionally considered a binary property of periodic lattices and crystals. However, the classes of two-dimensional lattices modulo rigid motion form a continuous space, which was recently parametrized by three geographic-style coordinates. The four non-oblique Bravais classes of two-dimensional lattices form low-dimensional singular subspaces in the full continuous space. Now, the deviations of a lattice from its higher symmetry neighbors can be continuously quantified by real-valued distances satisfying metric axioms. This article analyzes these and newer G-chiral distances for millions of two-dimensional lattices that are extracted from thousands of available two-dimensional materials and real crystal structures in the Cambridge Structural Database.

4.
J Anesth ; 36(1): 17-25, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34533639

RESUMO

This systematic review aimed to compare the analgesic effectiveness and complications rates for anterior suprascapular nerve blocks (ASSB) compared to interscalene brachial plexus blocks (ISB) for arthroscopic and outpatient shoulder surgery. Only randomized controlled trials (RCTs) comparing the ASSB versus ISB in the context of arthroscopic shoulder surgery were eligible for inclusion. The primary outcomes included pain scores (Numeric Rating Scale of 0 to 10) up to 24 h postoperatively and analgesic consumption. Secondary outcomes included block complications. Meta-analysis was performed using random-effects modeling and result certainty was determined using the GRADEpro tool. Six RCTs (709 patients) were included for analysis. ISB displayed a statistically significant reduction in pain scores by 0.40 (95%CI = 0.36 to 0.45; p < 0.00001) but not morphine equivalent consumption (mean difference = 0.74 mg; 95%CI = - 0.18 to 1.66 mg; I2 = 60%; p = 0.11; moderate certainty) immediately in the postoperative care unit. Opioid consumption and pain scores at 6 to 24 h were not significantly different. There was no difference in respiratory events postblock. ASSB demonstrated a significantly lower incidence of Horner's syndrome (relative risk (RR) = 0.17; 95%CI = 0.08 to 0.39; p < 0.00001; high certainty), voice hoarseness (RR = 0.24; 95%CI = 0.10 to 0.57; p < 0.00001; high certainty) and impaired respiratory function (p < 0.00001). The ASSB could be considered an appropriate analgesic option for arthroscopic shoulder surgery with potentially fewer complications than the ISB.


Assuntos
Bloqueio do Plexo Braquial , Anestésicos Locais , Artroscopia/efeitos adversos , Humanos , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/etiologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Ombro/cirurgia
5.
Cochrane Database Syst Rev ; 10: CD008100, 2019 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-31600820

RESUMO

BACKGROUND: Single-shot spinal anaesthesia (SSS) and combined spinal-epidural (CSE) anaesthesia are both commonly used for caesarean section anaesthesia. Spinals offer technical simplicity and rapid onset of nerve blockade which can be associated with hypotension. CSE anaesthesia allows for more gradual onset and also prolongation of the anaesthesia through use of a catheter. OBJECTIVES: To compare the effectiveness and adverse effects of CSE anaesthesia to single-shot spinal anaesthesia for caesarean section. SEARCH METHODS: We searched the Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov, the WHO International Clinical Trials Registry Platform (ICTRP), and reference lists of retrieved studies (search date: 8 August 2019). SELECTION CRITERIA: We considered all published randomised controlled trials (RCTs) involving a comparison of CSE anaesthesia with single-shot spinal anaesthesia for caesarean section. We further subgrouped spinal anaesthesia as either high-dose (10 or more mg bupivacaine), or low-dose (less than 10 mg bupivacaine). DATA COLLECTION AND ANALYSIS: Two review authors independently assessed trials for inclusion and risks of bias, extracted data and checked them for accuracy. We used standard methodological procedures expected by Cochrane. MAIN RESULTS: We identified 18 trials including 1272 women, but almost all comparisons for individual outcomes involved relatively small numbers of women. Two trials did not report on this review's outcomes and therefore contribute no data towards this review. Trials were conducted in national or university hospitals in Australia (1), Croatia (1), India (1), Italy (1), Singapore (3), South Korea (4), Spain (1), Sweden (1), Turkey (2), UK (1), USA (2). The trials were at a moderate risk of bias overall.CSE versus high-dose spinal anaesthesiaThere may be little or no difference between the CSE and high-dose spinal groups for the number of women requiring a repeat regional block or general anaesthetic as a result of failure to establish adequate initial blockade (risk ratio (RR) 0.32, 95% confidence interval (CI) 0.05 to 1.97; 7 studies, 341 women; low-quality evidence). We are uncertain whether having CSE or spinal makes any difference in the number of women requiring supplemental intra-operative analgesia at any time after CSE or spinal anaesthetic insertion (average RR 1.25, 95% CI 0.19 to 8.43; 7 studies, 390 women; very low-quality evidence), or the number of women requiring intra-operative conversion to general anaesthesia (RR 1.00, 95% CI 0.07 to 14.95; 7 studies, 388 women; very low-quality evidence). We are also uncertain about the results for the number of women who were satisfied with anaesthesia, regardless of whether they received CSE or high-dose spinal (RR 0.93 95% CI 0.73 to 1.19; 2 studies, 72 women; very low-quality evidence). More women in the CSE group (13/21) experienced intra-operative nausea or vomiting requiring treatment than in the high-dose spinal group (6/21). There were 11 cases of post-dural puncture headache (5/56 with CSE versus 6/57 with SSS; 3 trials, 113 women) with no clear difference between groups. There was also no clear difference in intra-operative hypotension requiring treatment (46/86 with CSE versus 41/76 with SSS; 4 trials, 162 women). There were no babies with Apgar score less than seven at five minutes (4 trials, 182 babies).CSE versus low-dose spinal anaesthesiaThere may be little or no difference between the CSE and low-dose spinal groups for the number of women requiring a repeat regional block or general anaesthetic as a result of failure to establish adequate initial blockade (RR 4.81, 95% CI 0.24 to 97.90; 3 studies, 224 women; low-quality evidence). Similarly, there is probably little difference in the number of women requiring supplemental intra-operative analgesia at any time after CSE or low-dose spinal anaesthetic insertion (RR 1.75, 95% CI 0.78 to 3.92; 4 studies, 298 women; moderate-quality evidence). We are uncertain about the effect of CSE or low-dose spinal on the need for intra-operative conversion to general anaesthesia, because this was not required by any of the 222 women in the three trials (low-quality evidence). None of the studies examined whether women were satisfied with their anaesthesia.The mean time to effective anaesthesia was faster in women who received low-dose spinal compared to CSE, although it is unlikely that the magnitude of this difference is clinically meaningful (standardised mean difference (SMD) 0.85 minutes, 95% CI 0.52 to 1.18 minutes; 2 studies, 160 women).CSE appeared to reduce the incidence of intra-operative hypotension requiring treatment compared with low-dose spinal (average RR 0.59, 95% CI 0.38 to 0.93; 4 studies, 336 women). Similar numbers of women between the CSE and low-dose spinal groups experienced intra-operative nausea or vomiting requiring treatment (3/50 with CSE versus 6/50 with SSS; 1 study, 100 women), and there were no cases of post-dural puncture headache (1 study, 138 women). No infants in either group had an Apgar score of less than seven at five minutes (1 study; 60 babies). AUTHORS' CONCLUSIONS: In this review, the number of studies and participants for most of our analyses were small and some of the included trials had design limitations. There was some suggestion that, compared to spinal anaesthesia, CSE could be associated with a reduction in the number of women with intra-operative hypotension, but an increase in intra-operative nausea and vomiting requiring treatment. One small study found that low-dose spinal resulted in a faster time to effective anaesthesia compared to CSE. However, these results are based on limited data and the difference is unlikely to be clinically meaningful. Consequently, there is currently insufficient evidence in support of one technique over the other and more evidence is needed in order to further evaluate the relative effectiveness and safety of CSE and spinal anaesthesia for caesarean section.More high-quality, sufficiently-powered studies in this area are needed. Such studies could consider using the outcomes listed in this review and should also consider reporting economic aspects of the different methods under investigation.

6.
Anesth Analg ; 137(3): e27, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37590811
8.
Acta Crystallogr A Found Adv ; 79(Pt 1): 1-13, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36601758

RESUMO

This paper develops geographic style maps containing two-dimensional lattices in all known periodic crystals parameterized by recent complete invariants. Motivated by rigid crystal structures, lattices are considered up to rigid motion and uniform scaling. The resulting space of two-dimensional lattices is a square with identified edges or a punctured sphere. The new continuous maps show all Bravais classes as low-dimensional subspaces, visualize hundreds of thousands of lattices of real crystal structures from the Cambridge Structural Database, and motivate the development of continuous and invariant-based crystallography.

9.
Anaesth Intensive Care ; 51(1): 63-71, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36065127

RESUMO

Corneal abrasions are an uncommon complication of anaesthesia. The aim of this study was to identify potential risk factors, treatment and outcomes associated with corneal abrasions reported to the web-based anaesthesia incident reporting system (webAIRS), a voluntary de-identified anaesthesia incident reporting system in Australia and New Zealand, from 2009 to 2021. There were 43 such cases of corneal abrasions reported to webAIRS over this period. The most common postoperative finding was a painful eye. Common features included older patients, individuals with pre-existing eye conditions, general anaesthesia and procedures longer than 60 minutes. Most cases were treated with a combination of lubricating eye drops or aqueous antibiotic eye drops. The findings indicate that patients who sustain a perioperative corneal abrasion can be reassured that in many cases it will heal within 48 hours, but they should seek earlier review if symptoms persist or deteriorate. None of the cases in this series resulted in permanent harm. Well established eye protective measures are important to utilise throughout the perioperative period, including the time until the patient has recovered in the post-anaesthesia care unit.


Assuntos
Lesões da Córnea , Humanos , Lesões da Córnea/etiologia , Anestesia Geral , Gestão de Riscos , Período Perioperatório/efeitos adversos , Fatores de Risco
10.
Anaesth Intensive Care ; 51(6): 375-390, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37802486

RESUMO

There were 684 perioperative cardiac arrests reported to webAIRS between September 2009 and March 2022. The majority involved patients older than 60 years, classified as American Society of Anesthesiologists Physical Status 3 to 5, undergoing an emergency or major procedure. The most common precipitants included airway events, cardiovascular events, massive blood loss. medication issues, and sepsis. The highest mortality rate was 54% of the 46 cases in the miscellaneous category (this included 34 cases of severe sepsis, which had a mortality of 65%). This was followed by cardiovascular precipitants (n = 424) in which there were 147 deaths (35% mortality): these precipitants included blood loss (53%), embolism (61%) and myocardial infarction (70%). Airway and breathing events accounted for 25% and anaphylaxis 8%. A specialist anaesthetist attended the majority of these cardiac arrests. As webAIRS is a voluntary database, it is not possible to determine the incidence of perioperative cardiac arrest and only descriptive information on factors associated with cardiac arrest can be obtained. Nevertheless, the large number of reports includes a wide range of cases, precipitants, demographics and outcomes, providing ample opportunity to learn from these events. The data also provide rich scope for further research into further initiatives to prevent cardiac arrest in the perioperative period, and to improve outcomes, should a cardiac arrest occur.


Assuntos
Anestesia , Parada Cardíaca , Humanos , Adulto , Anestesia/efeitos adversos , Incidência , Período Perioperatório/efeitos adversos , Parada Cardíaca/epidemiologia , Parada Cardíaca/etiologia , Coração
11.
Tuberculosis (Edinb) ; 131: 101947, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33691988

RESUMO

BACKGROUND: The mechanisms underlying Bacille Calmette-Guérin (BCG) vaccine's protective effects against tuberculosis (TB) are incompletely understood but are proposed to involve a predominantly cell-mediated process. However, there is increasing evidence for the involvement of antibodies in the control of Mycobacteria tuberculosis and in the immune response to BCG. METHODS: We did a systematic review of studies investigating anti-BCG antibodies in individuals with active or latent TB, and in the response to BCG vaccination. RESULTS: Of 1417 articles screened, 70 were relevant, comprising 52 investigating anti-BCG antibodies in TB and 18 investigating the anti-BCG antibody response to BCG-vaccination. Individuals with active TB have higher levels of anti-BCG antibodies compared with individuals with latent TB or healthy individuals. Antibodies to BCG are present after BCG vaccination. There is some evidence for the in utero transfer of maternal anti-BCG antibodies to infants. CONCLUSIONS: BCG vaccination induces a humoral response. Antibodies targeted against BCG and its antigens may play a role in protection against active TB.


Assuntos
Anticorpos/farmacologia , Imunidade/fisiologia , Tuberculose/tratamento farmacológico , Anticorpos/metabolismo , Vacina BCG/farmacologia , Vacina BCG/uso terapêutico , Humanos , Tuberculose/imunologia , Tuberculose/prevenção & controle
12.
Anaesth Intensive Care ; 49(2): 133-139, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33832336

RESUMO

Published reports of uvular necrosis are uncommon and it is possibly an under-reported complication of oropharyngeal manipulation. Uvular necrosis is thought to develop due to ischaemia secondary to mechanical compression of the uvula from oropharyngeal devices. Patients typically present with symptoms of a sore throat within 48 hours postoperatively. It is unclear whether there are any preventable factors, or any specific management strategies that might reduce this complication. Treatment is most commonly conservative management, including observation and simple analgesia. We present 13 cases of uvular injury that were reported to a web-based anaesthesia incident reporting system (webAIRS), a voluntary de-identified anaesthesia incident reporting system in Australia and New Zealand. While the postoperative findings varied, sore throat was the most frequent symptom. Most of the cases resolved spontaneously; the remainder with supportive treatment only. The findings suggest that patients who sustain a uvular injury can be reassured, but they should be advised to seek review early if sore throat persists or any difficulty with breathing develops.


Assuntos
Anestesia , Máscaras Laríngeas , Faringite , Austrália , Humanos , Doença Iatrogênica , Internet , Necrose/etiologia , Nova Zelândia , Faringite/etiologia , Complicações Pós-Operatórias , Gestão de Riscos , Úvula
15.
J Med Case Rep ; 8: 237, 2014 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-24981130

RESUMO

INTRODUCTION: Chronic migraines and tension-type headaches are debilitating diseases affecting 1.4 to 2.2% of the population with both quality of life and economic implications. To date, the pain associated with migraine and tension-type headaches has been controlled with a range of medications, with varying levels of success. In addition, the side-effect profile of these medications, as well as their potential for addiction, has been a cause for concern for both patients and physicians. CASE PRESENTATIONS: Four women with long histories of migraine or frequent tension-type headache that meet the International Classification of Headache Disorders criteria for Chronic Migraine or Tension-type Headaches were given a systemic treatment(s) of autologous stromal vascular fraction or autologous 'StroMed' isolated from lipoaspirate. StroMed is stromal vascular fraction cells prepared by ultrasonic cavitation. Two of the four patients, both of whom are Arab women aged 40 and 36 years, ceased having migraines after 1 month, for a period of 12 to 18 months. The third patient, a Slavic woman aged 43 years, had a significant decrease in the frequency and severity of migraines with only seven migraines over 18 months. The fourth patient, an Asian woman aged 44 years, obtained a temporary decrease for a period of a month and was retreated 18 months later and has been free of migraines to date for 1 month. Pain medication was typically reduced from prescribed opioid analgesia to non-steroidal anti-inflammatory drugs and paracetamol. CONCLUSIONS: This case series is the first to provide evidence of the efficacy of autologous StroMed and stromal vascular fraction in the treatment of migraine and tension-type headache. The treatment of this disease by stromal vascular fraction adds a new dimension to its clinical applicability and suggests a relatively simple treatment that may help address the symptoms of the disease. Given what is known about the components of the stromal vascular fraction and how they act, the information presented in this case series may also further our knowledge of the etiology and pathophysiology of migraine and tension-type headaches. This treatment is simple, looks to be extremely effective and has been life changing for these patients.


Assuntos
Transplante de Células-Tronco Mesenquimais/métodos , Transtornos de Enxaqueca/terapia , Gordura Subcutânea/citologia , Cefaleia do Tipo Tensional/terapia , Adulto , Doença Crônica , Feminino , Humanos , Células Estromais/transplante , Transplante Autólogo , Resultado do Tratamento
16.
Hum Genet ; 113(2): 99-105, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12700977

RESUMO

Linkage of chromosome 11q13 to type 1 diabetes (T1D) was first reported from genome scans (Davies et al. 1994; Hashimoto et al. 1994) resulting in P <2.2 x 10(-5) (Luo et al. 1996) and designated IDDM4 ( insulin dependent diabetes mellitus 4). Association mapping under the linkage peak using 12 polymorphic microsatellite markers suggested some evidence of association with a two-marker haplotype, D11S1917*03-H0570POLYA*02, which was under-transmitted to affected siblings and over-transmitted to unaffected siblings ( P=1.5 x 10(-6)) (Nakagawa et al. 1998). Others have reported evidence for T1D association of the microsatellite marker D11S987, which is approximately 100 kb proximal to D11S1917 (Eckenrode et al. 2000). We have sequenced a 400-kb interval surrounding these loci and identified four genes, including the low-density lipoprotein receptor related protein (LRP5) gene, which has been considered as a functional candidate gene for T1D (Hey et al. 1998; Twells et al. 2001). Consequently, we have developed a comprehensive SNP map of the LRP5 gene region, and identified 95 SNPs encompassing 269 kb of genomic DNA, characterised the LD in the region and haplotypes (Twells et al. 2003). Here, we present our refined linkage curve of the IDDM4 region, comprising 32 microsatellite markers and 12 SNPs, providing a peak MLS=2.58, P=5 x 10(-4), at LRP5 g.17646G>T. The disease association data, largely focused in the LRP5 region with 1,106 T1D families, provided no further evidence for disease association at LRP5 or at D11S987. A second dataset, comprising 1,569 families from Finland, failed to replicate our previous findings at LRP5. The continued search for the variants of the putative IDDM4 locus will greatly benefit from the future development of a haplotype map of the genome.


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 11/genética , Diabetes Mellitus Tipo 1/genética , Ligação Genética , Receptores de LDL/genética , Genótipo , Humanos , Proteínas Relacionadas a Receptor de LDL , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Repetições de Microssatélites
17.
Genome Res ; 13(5): 845-55, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12727905

RESUMO

Patterns of linkage disequilibrium (LD) in the human genome are beginning to be characterized, with a paucity of haplotype diversity in "LD blocks," interspersed by apparent "hot spots" of recombination. Previously, we cloned and physically characterized the low-density lipoprotein-receptor-related protein 5 (LRP5) gene. Here, we have extensively analysed both LRP5 and its flanking three genes, spanning 269 kb, for single nucleotide polymorphisms (SNPs), and we present a comprehensive SNP map comprising 95 polymorphisms. Analysis revealed high levels of recombination across LRP5, including a hot-spot region from intron 1 to intron 7 of LRP5, where there are 109 recombinants/Mb (4882 meioses), in contrast to flanking regions of 14.6 recombinants/Mb. This region of high recombination could be delineated into three to four hot spots, one within a 601-bp interval. For LRP5, three haplotype blocks were identified, flanked by the hot spots. Each LD block comprised over 80% common haplotypes, concurring with a previous study of 14 genes that showed that common haplotypes account for at least 80% of all haplotypes. The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination.


Assuntos
Haplótipos/genética , Desequilíbrio de Ligação/genética , Receptores de LDL/genética , Recombinação Genética/genética , Região 3'-Flanqueadora/genética , Região 5'-Flanqueadora/genética , Alelos , Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 11/genética , Diabetes Mellitus Tipo 1/genética , Frequência do Gene/genética , Marcadores Genéticos/genética , Genética Populacional , Genótipo , Humanos , Íntrons/genética , Proteínas Relacionadas a Receptor de LDL , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Repetições de Microssatélites/genética , Núcleo Familiar , Polimorfismo de Nucleotídeo Único/genética
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