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1.
Tech Coloproctol ; 27(12): 1251-1256, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37106220

RESUMO

PURPOSE: A protective loop ileostomy is the most useful method to reduce sequelae in the event of an anastomotic leakage (AL) after rectal cancer surgery. However, it requires an additional stoma reversal surgery with its own potential complications. Postoperative ileus (POI) remains the most common complication after ileostomy reversal, which leads to an increase in morbidity, length of hospital stay (LOS) and overall healthcare costs. Several retrospective studies carried out in this field have concluded that there are insufficient evidence-based recommendations about the routine application of preoperative bowel stimulation in clinical practice. Here we discuss whether stimulation of the efferent limb before ileostomy reversal might reduce POI and improve postoperative outcomes. METHODS: This is a multicentre randomised controlled trial to determine whether mechanical stimulation of the efferent limb during the 2 weeks before the ileostomy reversal would help to reduce the development of POI after surgery. This study was registered on Clinicaltrials.gov (NCT05302557). Stimulation will consist of infusing a solution of 500 ml of saline chloride solution mixed with a thickening agent (Resource©, Nestlé Health Science; 6.4 g sachet) into the distal limb of the ileostomy loop. This will be performed within the 2 weeks before ileostomy reversal, in an outpatient clinic under the supervision of a trained stoma nurse. CONCLUSION: The results of this study could provide some insights into the preoperative management of these patients.


Assuntos
Íleus , Neoplasias Retais , Humanos , Ileostomia/efeitos adversos , Ileostomia/métodos , Estudos Retrospectivos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Fístula Anastomótica/etiologia , Neoplasias Retais/cirurgia , Neoplasias Retais/complicações , Reto , Íleus/etiologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Multicêntricos como Assunto
2.
Plant Cell Environ ; 43(10): 2394-2408, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32633032

RESUMO

Theories attempting to explain species coexistence in plant communities have argued in favour of species' capacities to occupy a multidimensional niche with spatial, temporal and biotic axes. We used the concept of hydrological niche segregation to learn how ecological niches are structured both spatially and temporally and whether small scale humidity gradients between adjacent niches are the main factor explaining water partitioning among tree species in a highly water-limited semiarid forest ecosystem. By combining geophysical methods, isotopic ecology, plant ecophysiology and anatomical measurements, we show how coexisting pine and oak species share, use and temporally switch between diverse spatially distinct niches by employing a set of functionally coupled plant traits in response to changing environmental signals. We identified four geospatial niches that turned into nine, when considering the temporal dynamics of the wetting/drying cycles in the substrate and the particular plant species adaptations to garner, transfer, store and use water. Under water scarcity, pine and oak exhibited water use segregation from different niches, yet under maximum drought when oak trees crossed physiological thresholds, niche overlap occurred. The identification of niches and mechanistic understanding of when and how species use them will help unify theories of plant coexistence and competition.


Assuntos
Ecossistema , Árvores/fisiologia , Desidratação , Meio Ambiente , Pinus/metabolismo , Pinus/fisiologia , Fenômenos Fisiológicos Vegetais , Caules de Planta/metabolismo , Quercus/metabolismo , Quercus/fisiologia , Chuva , Árvores/metabolismo , Xilema/metabolismo
3.
Tech Coloproctol ; 24(10): 1001-1015, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32666362

RESUMO

BACKGROUND: Preoperative or neoadjuvant chemotherapy (NAC) has emerged as a novel alternative to treat locally advanced colon cancer (LACC), as in other gastrointestinal malignancies. However, evidence of its efficacy and safety has not yet been gathered in the literature. The aim of the present study was to perform an extensive review of the scientific evidence for NAC in patients with LACC. METHODS: PubMed, EMBASE, MEDLINE and Cochrane Library were searched for a systematic review of the literature from 2010 to 2019. Six eligible studies were included, with a total of 27,937 patients, 1232 of them (4.4%) treated with NAC. There were only one randomized controlled trial, three phase II non-randomized single arm studies and two retrospective studies. RESULTS: The baseline computed tomography scan showed that most of patients had a T3 tumor. The completion rate of the planned neoadjuvant treatment ranged from 52.5 to 93.8%. Between 97.2 and 100% of patients had the scheduled surgery. The median tumor volume reduction after NAC ranged from 62.5 to 63.7%. The anastomotic leak rate in the NAC group ranged from 0 to 7%, with no cases of postoperative mortality. There was major pathological tumor regression in 4-34.7% of cases. Between 84 and 100% of NAC patients had R0-surgery. Survival after NAC seems to be encouraging although significant improvement has only been proven in T4b tumours. CONCLUSIONS: According to our systematic review, the NAC may be a safe and effective emerging therapeutic alternative for treating LACC. This approach, which is still being tested, increases the reliance on accurate radiological staging.


Assuntos
Neoplasias do Colo , Terapia Neoadjuvante , Protocolos de Quimioterapia Combinada Antineoplásica , Quimioterapia Adjuvante , Neoplasias do Colo/tratamento farmacológico , Neoplasias do Colo/patologia , Humanos , Estadiamento de Neoplasias , Estudos Retrospectivos
4.
Eur J Nutr ; 57(Suppl 3): 53-63, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29858628

RESUMO

PURPOSE: The primary aim of this survey was to report total fluid intake (TFI) and different fluid types for children (4-9 years) and adolescents (10-17 years) in Mexico, Brazil, Argentina and Uruguay. The second aim was to compare TFI with the adequate intake (AI) of water from fluids as recommended by the USA Institute of Medicine. METHODS: Data were collected using a validated liquid intake 7-day record (Liq.In 7 ). Participants' characteristics, including age, sex and anthropometric measurements were recorded. RESULTS: A total of 733 children and 933 adolescents were recruited. Over 75% of children in Uruguay met the IOM's recommended intake. Fewer children in Argentina (64-72%) and Brazil (41-50%) obtained AI and the lowest values were recorded in Mexico (33-44%), where 16% of boys and 14% girls drank 50% or less of the AI. More adolescents in Argentina (42%) met the AIs than other countries; the lowest was in Mexico (28%). Children and adolescents in Mexico and Argentina drank more sugar sweetened beverages than water. CONCLUSIONS: Large numbers of children and adolescents did not meet AI recommendations for TFI, raising concerns about their hydration status and potential effects on mental and physical well-being. Given the negative effects on children's health, the levels of SSB consumption are worrying.


Assuntos
Bebidas/estatística & dados numéricos , Ingestão de Líquidos , Inquéritos Nutricionais , Adolescente , Argentina , Brasil , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , México , Uruguai
5.
Eur J Nutr ; 57(Suppl 3): 65-75, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29858627

RESUMO

PURPOSE: To report total fluid intake (TFI) and the intake of different fluid types in adults (≥ 18 years old) from Mexico, Argentina, Brazil and Uruguay. To compare intakes between countries and with recommended adequate intake (AI) of water from fluids. METHODS: Cross-sectional data were collected using a validated liquid intake 7-day record (Liq.In 7 ) in populations from Argentina (n = 1089), Brazil (n = 477), Mexico (n = 1677) and Uruguay (n = 554). Population characteristics, including age, gender, body mass index and socioeconomic level were recorded. Mean TFI was compared with the AI of water from fluids set by the USA Institute of Medicine. RESULTS: The lowest TFI was recorded in Mexican women (1748 mL/day) and the highest in Argentinean men (2318 mL/day). Median daily TFI was significantly different between countries; Uruguay and Argentina had higher values than Mexico and Brazil. In the former, plain water contributed to only 25% of TFI, the remainder being predominantly from hot beverages. Approximately, a third of adults did not drink enough fluid to meet the recommended AI. High SSB consumption was reported, which was significantly different between countries (p < 0.05), the highest being in Mexico (median 25-75th percentiles): 531 (300-895 mL/day. CONCLUSIONS: This survey highlights the need to increase water consumption and reduce SSB intake in this region to avoid potential associated health risks. These findings may be useful information in monitoring public health policy strategies.


Assuntos
Bebidas/estatística & dados numéricos , Ingestão de Líquidos , Inquéritos Nutricionais , Adolescente , Adulto , Argentina , Brasil , Comparação Transcultural , Estudos Transversais , Desidratação , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Uruguai , Adulto Jovem
6.
Harm Reduct J ; 14(1): 72, 2017 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-29117858

RESUMO

BACKGROUND: Mexico's 2009 "narcomenudeo reform" decriminalized small amounts of drugs, shifting some drug law enforcement to the states and mandating drug treatment diversion instead of incarceration. Data from Tijuana suggested limited implementation of this harm reduction-oriented policy. We studied whether a police education program (PEP) improved officers' drug and syringe policy knowledge, and aimed to identify participant characteristics associated with improvement of drug policy knowledge. METHODS: Pre- and post-training surveys were self-administered by municipal police officers to measure legal knowledge. Training impact was assessed through matched paired nominal data using McNemar's tests. Multivariable logistic regression was used to identify predictors of improved legal knowledge, as measured by officers' ability to identify conceptual legal provisions related to syringe possession and thresholds of drugs covered under the reform. RESULTS: Of 1750 respondents comparing pre- versus post training, officers reported significant improvement (p < 0.001) in their technical understanding of syringe possession (56 to 91%) and drug amounts decriminalized, including marijuana (9 to 52%), heroin (8 to 71%), and methamphetamine (7 to 70%). The training was associated with even greater success in improving conceptual legal knowledge for syringe possession (67 to 96%) (p < 0.001), marijuana (16 to 91%), heroin (11 to 91%), and methamphetamine (11 to 89%). In multivariable modeling, those with at least a high school education were more likely to exhibit improvement of conceptual legal knowledge of syringe possession (adjusted odds ratio [aOR] 2.6, 95% CI 1.4-3.2) and decriminalization for heroin (aOR 2.7, 95% CI 1.3-4.3), methamphetamine (aOR 2.2, 95% CI 1.4-3.2), and marijuana (aOR 2.5, 95% CI 1.6-4). CONCLUSIONS: Drug policy reform is often necessary, but not sufficient to achieve public health goals because of gaps in translating formal laws to policing practice. To close such gaps, PEP initiatives bundling occupational safety information with relevant legal content demonstrate clear promise. Our findings underscore additional efforts needed to raise technical knowledge of the law among personnel tasked with its enforcement. Police professionalization, including minimum educational standards, appear critical for aligning policing with harm reduction goals.


Assuntos
Polícia/educação , Política Pública , Adulto , Cannabis , Feminino , Redução do Dano , Heroína , Humanos , Drogas Ilícitas , Conhecimento , Aplicação da Lei , Masculino , Metanfetamina , México , Programas de Troca de Agulhas , Fatores Socioeconômicos
7.
New Phytol ; 207(1): 59-69, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25711344

RESUMO

Trees growing on shallow rocky soils must have exceptional adaptations when underlying weathered bedrock has no deep fractures for water storage. Under semiarid conditions, hydrology of shallow soils is expected to decouple from plant hydrology, as soils dry out as a result of rapid evaporation and competition for water increases between coexisting tree species. Gas exchange and plant-water relations were monitored for 15 months for Pinus cembroides and Quercus potosina tree species in a tropical semiarid forest growing on c. 20-cm-deep soils over impermeable volcanic bedrock. Soil and leaf water potential maintained a relatively constant offset throughout the year in spite of high intra-annual fluctuations reaching up to 5 MPa. Thus, hydrology of shallow soils did not decouple from hydrology of trees even in the driest period. A combination of redistribution mechanisms of water stored in weathered bedrock and hypodermic flow accessible to oak provided the source of water supply to shallow soils, where most of the actively growing roots occurred. This study demonstrates a unique geoecohydrological mechanism that maintains a tightly coupled hydrology between shallow rocky soils and trees, as well as species coexistence in this mixed forest, where oak facilitates water access to pine.


Assuntos
Florestas , Geografia , Hidrologia , Folhas de Planta/fisiologia , Solo/química , Clima Tropical , Água/fisiologia , Gases/metabolismo , México , Pinus/fisiologia , Estômatos de Plantas/fisiologia , Quercus/fisiologia , Chuva , Estações do Ano , Especificidade da Espécie , Árvores/fisiologia
8.
Ann Surg Oncol ; 22(3): 916-23, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25190129

RESUMO

BACKGROUND: The prognostic significance of perineural and/or lymphovascular invasion (PLVI) and its relationship with tumor regression grade (TRG) in patients with locally advanced rectal cancer (LARC) treated with neoadjuvant chemoradiotherapy (CRT) and surgery. METHODS: A total of 324 patients with LARC were treated with CRT and operated on between January 1992 and June 2007. Tumors were graded using a quantitative 5-grade TRG classification and the presence of PLVI was histologically studied. RESULTS: At a median follow-up of 79.0 months (range 3-250 months), a total of 80 patients (24.7%) relapsed. The observed 5- and 10-year overall survival (OS) was 83.2 and 74.9 %, respectively. The 5- and 10-year disease-free survival (DFS) was 75.1 and 71.4%, respectively. A significant correlation was found between the TRG and survival (log rank, p < 0.001). The 10-year OS was 32.7% for grade 1, 63.8% for grade 2, 75.0% for grade 3, 90.4% for grade 3+, and 96.0%,for grade 4. The 10-year DFS was 31.8% for grade 1, 58.6% for grade 2, 70.4% for grade 3, 88.4% for grade 3+, and 97.1% for grade 4. In patients with PLVI, the TRG had no impact on survival. When excluding patients with PLVI, the TRG was an independent prognostic factor for OS and DFS. CONCLUSIONS: The presence of PLVI is a more powerful prognostic factor than TRG in LARC patients treated with neoadjuvant CRT followed by surgery. PLVI denotes an aggressive phenotype, suggesting that these patients may benefit from adjuvant systemic therapy.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Neoadjuvante , Recidiva Local de Neoplasia/mortalidade , Neoplasias do Sistema Nervoso Periférico/mortalidade , Neoplasias do Sistema Nervoso Periférico/secundário , Neoplasias Retais/mortalidade , Neoplasias Retais/patologia , Adenocarcinoma/mortalidade , Adenocarcinoma/secundário , Adenocarcinoma/terapia , Idoso , Carboplatina/administração & dosagem , Quimiorradioterapia , Terapia Combinada , Feminino , Fluoruracila/administração & dosagem , Seguimentos , Humanos , Leucovorina/administração & dosagem , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Estadiamento de Neoplasias , Compostos Organoplatínicos/administração & dosagem , Oxaliplatina , Neoplasias do Sistema Nervoso Periférico/terapia , Período Pós-Operatório , Prognóstico , Neoplasias Retais/terapia , Indução de Remissão , Taxa de Sobrevida
9.
Clin Genet ; 85(2): 166-71, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23488891

RESUMO

The term 'limb-girdle myasthenia' (LGM) was first used to describe three siblings with proximal limb weakness without oculobulbar involvement, but with EMG decrement and responsiveness to anticholinesterase medication. We report here that exome sequencing in the proband of this family revealed several sequence variations in genes linked to proximal limb weakness. However, the only mutations that cosegregated with disease were an intronic IVS7-8A>G mutation and the previously reported 3'-UTR c.*22C>A mutation in GFPT1, a gene linked to LGM. A minigene assay showed that IVS7-8A>G activates an alternative splice acceptor that results in retention of the last seven nucleotides of intron 7 and a frameshift leading to a termination codon 13 nucleotides downstream from the new splice site. An anconeus muscle biopsy revealed mild reduction of the axon terminal size and postsynaptic fold simplification. The amplitudes of miniature endplate potentials and quantal release were also diminished. The DNA of the mildly affected father of the proband showed only the intronic mutation along with sequence variations in other genes potentially relevant to LGM. Thus, this study performed in the family originally described with LGM showed two GFPT1 untranslated mutations, which may cause disease by reducing GFPT1 expression and ultimately impairing protein glycosylation.


Assuntos
Exoma/genética , Glutamina-Frutose-6-Fosfato Transaminase (Isomerizante)/genética , Miastenia Gravis/genética , Síndromes Miastênicas Congênitas/genética , 4-Aminopiridina/análogos & derivados , 4-Aminopiridina/uso terapêutico , Idoso , Amifampridina , Sequência de Bases , Análise Mutacional de DNA , Eletromiografia , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Dados de Sequência Molecular , Miastenia Gravis/tratamento farmacológico , Miastenia Gravis/patologia , Síndromes Miastênicas Congênitas/tratamento farmacológico , Síndromes Miastênicas Congênitas/patologia , Neostigmina/uso terapêutico , Junção Neuromuscular/ultraestrutura , Linhagem , Reação em Cadeia da Polimerase Via Transcriptase Reversa
10.
Surg Today ; 44(12): 2318-23, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24845740

RESUMO

PURPOSE: No definitive surgical treatment for non-acute pilonidal disease has been established thus far. We herein report the short-term and long-term outcomes of 74 consecutive patients who underwent the cleft lift procedure for non-acute pilonidal disease. METHODS: A total of 74 consecutive patients who underwent the cleft lift procedure for the treatment of non-acute pilonidal disease were evaluated. RESULTS: Complete healing was achieved in 54 patients (73%). Wound seroma was observed in 12 patients (15%) in the first week, and this persisted until the second week in 10 patients (13%). Partial dehiscence was found in eight patients (11%). One patient presented with complete wound dehiscence (1%), and another experienced early postoperative bleeding (1%). Wound infection was observed in one patient (1%). The median follow-up period was 51.5 months (range 15-88 months). Three cases of recurrences were observed, which occurred after 51, 42 and 12 months of follow-up. CONCLUSIONS: If longer-term follow-up is achieved, definitive conclusions may be obtained. However, the present results suggest that the cleft lift procedure may become the gold standard technique for the surgical management of non-acute pilonidal disease.


Assuntos
Seio Pilonidal/cirurgia , Procedimentos Cirúrgicos Operatórios/métodos , Adolescente , Adulto , Idoso , Nádegas , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Região Sacrococcígea , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
11.
J Econ Entomol ; 107(1): 375-88, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24665723

RESUMO

We evaluated the susceptibility of 15 mango cultivars to the attack of Anastrepha ludens (Loew) and Anastrepha obliqua (Macquart) (Diptera: Tephritidae), the main tephritid pests of this crop in Mexico. In a field experiment, bagged fruit-bearing branches were exposed to gravid females of both fly species. Infestation rates, developmental time, adult eclosion, and F1 adult longevity, fecundity, and fertility were recorded, ranking cultivars in terms of susceptibility to fly attack and development. We also compared the volatile profile in selected resistant and susceptible cultivars in search of possible correlations. In a second experiment, clutch size for A. ludens was determined in each cultivar. Infestation rates, developmental time, and F1 demographic parameters varied sharply among cultivars and between fly species for bagged fruit. Cultivars 'Vishi,' '74-82,' and 'Brooks' were most susceptible to A. ludens infestation while "Tommy,' 'Sensation,' and 'Ataulfo "niño"' (parthenocarpic fruit) were most susceptible to A. obliqua infestation. 'Edward,' 'Kent,' 'Brooks late,' 'Palmer, and 'Ataulfo' exhibited tolerance to attack of both fly species. Fruit of susceptible and resistant cultivars exhibited unique volatile profiles. Fly development and F1 adult demographic parameters varied significantly among cultivars. A. ludens females laid larger clutches in larger and harder fruit. We highlight the important role of Ataulfo "niño" as pest reservoir if fruit is left unharvested on trees. We discuss the possible use of highly resistant cultivars as trap crops or egg sinks.


Assuntos
Mangifera/química , Tephritidae , Animais , Tamanho da Ninhada , Análise Discriminante , Feminino , Frutas/química , Controle de Insetos , Masculino , Densidade Demográfica , Especificidade da Espécie , Compostos Orgânicos Voláteis/química
12.
Colorectal Dis ; 15(5): 552-7, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23398577

RESUMO

AIM: Preoperative chemotherapy followed by radical surgery is an attractive treatment for locally advanced colon cancer (LACC) given the promising results of this approach in other locally advanced tumours. The study evaluates the outcome and treatment-related complications of perioperative oxaliplatin- and capecitabine-based chemotherapy and surgery for clinical Stage III colon cancer. METHOD: Twenty-two consecutive patients with a CT-staged LACC were included. All were staged at baseline and before surgery. Surgery-related complications and oncological outcome were determined. RESULTS: Toxicity was manageable, with 19/22 patients completing the planned chemotherapy protocol. The median time from initial diagnosis to surgery was 65.5 days. The median time from the end of chemotherapy to surgery was 22 days. After neoadjuvant treatment, tumour reduction of 69.5% was observed by CT scan and a 59.9% decrease of SUVmax (standard uptake value) was achieved on positron emission tomography/CT. No progressive disease was reported during preoperative chemotherapy and surgery was performed in all 22 patients. Four patients developed postoperative complications. After a median postoperative follow-up of 14.4 months, the actuarial overall and disease-free survival rates were 100 and 90%. CONCLUSION: Neoadjuvant chemotherapy followed by surgery and chemotherapy for LACC is safe without apparent increase of early and medium-term complications.


Assuntos
Adenocarcinoma/patologia , Adenocarcinoma/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias do Colo/patologia , Neoplasias do Colo/terapia , Terapia Neoadjuvante , Adulto , Idoso , Idoso de 80 Anos ou mais , Capecitabina , Quimioterapia Adjuvante , Colectomia/efeitos adversos , Desoxicitidina/administração & dosagem , Desoxicitidina/análogos & derivados , Intervalo Livre de Doença , Feminino , Fluoruracila/administração & dosagem , Fluoruracila/análogos & derivados , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Duração da Cirurgia , Compostos Organoplatínicos/administração & dosagem , Oxaliplatina , Tomografia por Emissão de Pósitrons , Taxa de Sobrevida , Tomografia Computadorizada por Raios X
14.
Clin Genet ; 80(5): 444-51, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21175599

RESUMO

Mutations in the plectin gene (PLEC1) cause epidermolysis bullosa simplex (EBS), which may associate with muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). The association of EBS with congenital myasthenic syndrome (CMS) is also suspected to result from PLEC1 mutations. We report here a consanguineous patient with EBS and CMS for whom mutational analysis of PLEC1 revealed a homozygous 36 nucleotide insertion (1506_1507ins36) that results in a reduced expression of PLEC1 mRNA and plectin in the patient muscle. In addition, mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation. A skin biopsy revealed signs of EBS, and an anconeus muscle biopsy showed signs of a mild myopathy. Endplate studies showed fragmentation of endplates, postsynaptic simplification, and large collections of thread-like mitochondria. Amplitudes of miniature endplate potentials were diminished, but the endplate quantal content was actually increased. The complex phenotype presented here results from mutations in two separate genes. While the skin manifestations are because of the PLEC1 mutation, footprints of mutations in PLEC1 and CHRNE are present at the neuromuscular junction of the patient indicating that abnormalities in both genes contribute to the CMS phenotype.


Assuntos
Epidermólise Bolhosa Simples/genética , Síndromes Miastênicas Congênitas/genética , Plectina/genética , Receptores Nicotínicos/genética , Consanguinidade , Epidermólise Bolhosa Simples/complicações , Potenciais Pós-Sinápticos Excitadores/fisiologia , Feminino , Células HEK293 , Humanos , Masculino , Pessoa de Meia-Idade , Potenciais Pós-Sinápticos em Miniatura/fisiologia , Mutagênese Insercional/genética , Síndromes Miastênicas Congênitas/fisiopatologia , Junção Neuromuscular/fisiopatologia , Linhagem
15.
J Exp Bot ; 62(15): 5581-94, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21868398

RESUMO

The study of proportional relationships between size, shape, and function of part of or the whole organism is traditionally known as allometry. Examination of correlative changes in the size of interbranch distances (IBDs) at different root orders may help to identify root branching rules. Root morphological and functional characteristics in three range grasses {bluebunch wheatgrass [Pseudoroegneria spicata (Pursh) Löve], crested wheatgrass [Agropyron desertorum (Fisch. ex Link) Schult.×A. cristatum (L.) Gaert.], and cheatgrass (Bromus tectorum L.)} were examined in response to a soil nutrient gradient. Interbranch distances along the main root axis and the first-order laterals as well as other morphological and allocation root traits were determined. A model of nutrient diffusivity parameterized with root length and root diameter for the three grasses was used to estimate root functional properties (exploitation efficiency and exploitation potential). The results showed a significant negative allometric relationship between the main root axis and first-order lateral IBD (P ≤ 0.05), but only for bluebunch wheatgrass. The main root axis IBD was positively related to the number and length of roots, estimated exploitation efficiency of second-order roots, and specific root length, and was negatively related to estimated exploitation potential of first-order roots. Conversely, crested wheatgrass and cheatgrass, which rely mainly on root proliferation responses, exhibited fewer allometric relationships. Thus, the results suggested that species such as bluebunch wheatgrass, which display slow root growth and architectural root plasticity rather than opportunistic root proliferation and rapid growth, exhibit correlative allometry between the main axis IBD and morphological, allocation, and functional traits of roots.


Assuntos
Raízes de Plantas/anatomia & histologia , Poaceae/anatomia & histologia , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/fisiologia , Poaceae/crescimento & desenvolvimento , Poaceae/fisiologia
17.
J Med Genet ; 46(3): 203-8, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19251977

RESUMO

BACKGROUND: We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2). METHODS AND RESULTS: Mutational analysis in the affected patient, who has a history of a serious untoward reaction to treatment with acetylcholinesterase inhibition, revealed two frame-shifting heteroallelic mutations, a maternally inherited 1478delG and a paternally inherited 4804delC. An anconeus muscle biopsy demonstrated a profound distortion of the architecture and function of the neuromuscular junction, which was strikingly similar to that seen in mice lacking laminin beta2 subunit. The findings included: pronounced reduction of the axon terminal size with encasement of the nerve endings by Schwann cells, severe widening of the primary synaptic cleft and invasion of the synaptic space by the processes of Schwann cells, and moderate simplification of postsynaptic folds and intact expression of the endplate acetylcholinesterase. The endplate potential quantal content was notably reduced, while the frequencies and amplitudes of miniature endplate potentials were only moderately diminished and the decay phases of miniature endplate potentials were normal. Western blot analysis of muscle and kidney tissue and immunohistochemistry of kidney tissue showed no laminin beta2 expression. CONCLUSION: This case, which represents a new type of synaptic CMS, exemplifies the wide variability of phenotypes associated with LAMB2 mutations and underscores the fundamental role that laminin beta2 plays in the development of the human neuromuscular junction.


Assuntos
Laminina/genética , Mutação , Síndromes Miastênicas Congênitas/genética , Análise Mutacional de DNA , Oftalmopatias Hereditárias/genética , Feminino , Humanos , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/fisiopatologia , Junção Neuromuscular/ultraestrutura , Adulto Jovem
18.
Equine Vet J ; 42(3): 200-7, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20486975

RESUMO

REASONS FOR PERFORMING STUDY: In human medicine, magnetic resonance imaging (MRI) is considered the 'gold standard' imaging procedure to assess the temporomandibular joint (TMJ). However, there is no information regarding MRI evaluation of equine TMJ. OBJECTIVES: To describe the normal sectional MRI anatomy of equine TMJ by using frozen and plastinated anatomical sections as reference; and determine the best imaging planes and sequences to visualise TMJ components. METHODS: TMJs from 6 Spanish Purebred horse cadavers (4 immature and 2 mature) underwent MRI examination. Spin-echo T1-weighting (SE T1W), T2*W, fat-suppressed (FS) proton density-weighting (PDW) and fast spin-echo T2-weighting (FSE T2W) sequences were obtained in oblique sagittal, transverse and dorsal planes. Anatomical sections were procured on the same planes for a thorough interpretation. RESULTS: The oblique sagittal and transverse planes were the most informative anatomical planes. SE T1W images showed excellent spatial resolution and resulted in superior anatomic detail when comparing to other sequences. FSE T2W sequence provided an acceptable anatomical depiction but T2*W and fat-suppressed PDW demonstrated higher contrast in visualisation of the disc, synovial fluid, synovial pouches and articular cartilage. CONCLUSIONS: The SE T1W sequence in oblique sagittal and transverse plane should be the baseline to identify anatomy. The T2*W and fat-suppressed PDW sequences enhance the study of the articular cartilage and synovial pouches better than FSE T2W. POTENTIAL RELEVANCE: The information provided in this paper should aid clinicians in the interpretation of MRI images of equine TMJ and assist in the early diagnosis of those problems that could not be diagnosed by other means.


Assuntos
Cavalos/anatomia & histologia , Imageamento por Ressonância Magnética/veterinária , Articulação Temporomandibular/anatomia & histologia , Animais
19.
J Econ Entomol ; 103(6): 2000-8, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21309219

RESUMO

Commercially ripe 'Hass' avocados, Persea americana Mill, artificially exposed to wild Anastrepha ludens (Loew) (Diptera: Tephritidae) females 24 h after harvest were placed in a cold storage facility to determine the effect of low temperature on larval survival and adult viability. Fruit were left for 3, 6, 9, and 12 d in a cold room at 5 degrees C followed by a 20-25-d period at ambient temperature to allow for larval development and pupation. Hass avocados and grapefruit, Citrus paradisi Macfadyen, maintained at ambient temperature served as controls. Overall, only 0.23% of the Hass avocados and 19.30% of the grapefruit were infested. The number of infested fruit increased with decreasing exposure time to cold. Puparia from cold-treated Hass avocados were significantly smaller than those stemming from cold-treated grapefruit. Hass avocados exposed for 12 d to 5 degrees C yielded no puparia, and those exposed for 6 and 9 d yielded 22 and two puparia, respectively, but no adults. Although Hass avocados exposed to cold temperature for 3 d yielded adults that reached sexual maturity (N = 16), females laid inviable eggs. Grapefruit exposed to cold for 12 d yielded normal-sized puparia (but no adults), whereas those exposed over 9 d yielded females able to lay viable eggs. We conclude that exposing fruit to cold storage after packing and during transport represents an effective risk-mitigating procedure in the highly improbable event that a gravid A. ludens female might lay eggs in a commercially ripe Hass avocado that had been left unprotected in a packinghouse.


Assuntos
Temperatura Baixa , Frutas/parasitologia , Persea/parasitologia , Tephritidae/crescimento & desenvolvimento , Animais , Feminino , Parasitologia de Alimentos , Larva/crescimento & desenvolvimento , Masculino , Óvulo/crescimento & desenvolvimento
20.
Rev Esp Enferm Dig ; 102(12): 722-8, 2010 12.
Artigo em Inglês | MEDLINE | ID: mdl-21198316

RESUMO

Solid pseudo-papillary tumor (SPPT) is a rare cystic tumor of the pancreas (1-3% of exocrine tumors of the pancreas) which shows an "enigmatic" behavior on the clinical and molecular pattern. A retrospective analysis of the cytological studies and resected specimens of pancreatic cystic tumors from May 1996 to February 2010 was carried out. Three cases of SPPT were found, which are the objective of this study. The diagnosis was established upon occasional finding in the abdominal CT, in spite of sizing between 3 and 6 cm of diameter. In the three cases the preoperative diagnosis was confirmed by cytology and specific immunohistochemical staining. Cases 2 and 3 showed strong immunoreactivity for Beta-Catenin and E-Cadherin staining. Radical resection (R0) was carried out in the three cases. A young male -21 years of age (case 1)- who had duodenal infiltration and two lymph nodes metastases died of hepatic and peritoneal recurrence 20 months following surgery. The other two cases are free of disease. The current review of the literature reports roughly 800 cases since the first report in 1959, and shows the enigmatic character of this tumor regarding the cellular origin, molecular pathways, prognostic factors and clinical behavior.


Assuntos
Carcinoma Papilar/patologia , Neoplasias Pancreáticas/patologia , Adolescente , Adulto , Evolução Fatal , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Hepáticas/secundário , Metástase Linfática , Imageamento por Ressonância Magnética , Masculino , Pancreatectomia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
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