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1.
Paediatr Respir Rev ; 41: 30-39, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34686436

RESUMO

Asthma is among the most common medical conditions affecting children and young people, with adolescence a recognised period of increased risk, overrepresented in analyses examining recent increasing asthma mortality rates. Asthma may change significantly during this period and management also occurs in the context of patients seeking increased autonomy and self-governance whilst navigating increasing academic and social demands. A number of disease factors can destabilise asthma during adolescence including: increased rates of anaphylaxis, anxiety, depression, obesity, and, in females, an emerging resistance to corticosteroids and the pro-inflammatory effects of oestrogen. Patient factors such as smoking, vaping, poor symptom recognition, treatment non-adherence and variable engagement with health services contribute to difficult to treat asthma. Significant deficiencies in the current approach to transition have been identified by a recent EAACI task force, and subsequent asthma-specific recommendations, published in 2020 provide an important framework moving forward. As with other chronic conditions, effective transition programmes plan ahead, engage with adolescents and their families to identify the patients' management priorities and the current challenges they are experiencing with treatment. Transition needs may vary significantly across asthma patients and for more complex asthma may include dedicated transition clinics involving multidisciplinary care requiring input including, amongst others, allergy and immunology, psychological medicine, respiratory physicians and scientists and nurse specialists. Across different global regions, barriers to treatment may vary but need to be elicited and an individualised approach taken to optimising asthma care which is sustainable within the local adult healthcare system.


Assuntos
Asma , Adolescente , Adulto , Asma/epidemiologia , Asma/terapia , Criança , Doença Crônica , Feminino , Humanos
2.
Clin Lab ; 68(8)2022 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-35975490

RESUMO

BACKGROUND: Group A Streptococcus (GAS) is the most common bacterial cause of acute tonsillopharyngitis. In this study, it was aimed to evaluate the performance of a novel Loop Mediated Isothermal Amplification (LAMP) method in the rapid diagnosis of GAS in samples taken from children with a prediagnosis of acute bacterial tonsillopharyngitis by comparing it with culture and rapid antigen test (RAT) methods. METHODS: A total of 100 throat swab samples taken from children at the pediatrics outpatient clinic with suspected tonsillopharyngitis were included in the study. Throat swab samples were analyzed by RAT, throat culture, and LAMP method. GAS suspected colonies were identified with MALDI-TOF MS system. The isothermal amplification reaction for LAMP was conducted by a novel LAMP instrument. RESULTS: According to the results of throat cultures; 53 of them were positive and 47 were negative in terms of GAS. Six (11.32%) of the culture positive samples were found to be negative by the RAT (sensitivity; 88.68%, specificity 100%). While the antigen test was positive, no culture negative sample was detected. One of the culture positive samples was found negative by LAMP. In two samples, while throat culture was negative, it was observed that LAMP was positive (sensitivity; 98.11%, specificity; 95.74%). In one of these samples, the bacteria grown in the culture were identified as Streptococcus dysgalactiae by mass spectrophotometry. CONCLUSIONS: In this study, it was determined that the LAMP method used in the diagnosis of throat infections caused by GAS has high sensitivity and specificity. We believe that the instrument is easy to use, low cost, portable, and adaptable to point of care tests. There are very few studies in the literature regarding the use of the instrument in this field, and it should be evaluated in terms of its usability in daily practice with new studies.


Assuntos
Faringite , Streptococcus pyogenes , Humanos , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Amplificação de Ácido Nucleico/métodos , Faringite/microbiologia , Sensibilidade e Especificidade , Streptococcus pyogenes/genética
3.
Langmuir ; 37(14): 4355-4369, 2021 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-33789039

RESUMO

Water droplet impacting on a slanted dusty hydrophobic surface is examined in relation to dust mitigation from surfaces. Impacting droplet characteristics including droplet spreading/retraction rates, slipping length, and rebound heights are analyzed via high-speed recording and a tracker program. The environmental dust characteristics in terms of size, shape, elemental composition, and surface free energy are evaluated by adopting the analytical methods. The findings reveal that the dynamic characteristics of the impacting droplet on the slanted hydrophobic surface are significantly influenced by the dust particles. The maximum droplet spreading over the dusty surface becomes smaller than that of the nondusty surface. The presence of the dust particles on the slanted hydrophobic surface increases energy dissipation, and the water droplet slipping length over the surface becomes less than that corresponding to the nondusty surface. Impacting droplet fluid infuses over the dust particle surface, which enables mitigation of dust from the surface to the droplet fluid. A dust-mitigated area on the slanted surface is larger than that corresponding to the horizontal surface; in which case, the area ratio becomes almost six-fold, which slightly reduces with increasing Weber number. The optical transmittance of the dust-mitigated surface by the impacting droplet remains high.

4.
Molecules ; 26(4)2021 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-33546331

RESUMO

Self-cleaning of surfaces becomes challenging for energy harvesting devices because of the requirements of high optical transmittance of device surfaces. Surface texturing towards hydrophobizing can improve the self-cleaning ability of surfaces, yet lowers the optical transmittance. Introducing optical matching fluid, such as silicon oil, over the hydrophobized surface improves the optical transmittance. However, self-cleaning ability, such as dust mitigation, of the oil-impregnated hydrophobic surfaces needs to be investigated. Hence, solution crystallization of the polycarbonate surface towards creating hydrophobic texture is considered and silicon oil impregnation of the crystallized surface is explored for improved optical transmittance and self-cleaning ability. The condition for silicon oil spreading over the solution treated surface is assessed and silicon oil and water infusions on the dust particles are evaluated. The movement of the water droplet over the silicon oil-impregnated sample is examined utilizing the high-speed facility and the tracker program. The effect of oil film thickness and the tilting angle of the surface on the sliding droplet velocity is estimated for two droplet volumes. The mechanism for the dust particle mitigation from the oil film surface by the sliding water droplet is analyzed. The findings reveal that silicon oil impregnation of the crystallized sample surface improves the optical transmittance significantly. The sliding velocity of the water droplet over the thick film (~700 µm) remains higher than that of the small thickness oil film (~50 µm), which is attributed to the large interfacial resistance created between the moving droplet and the oil on the crystallized surface. The environmental dust particles can be mitigated from the oil film surface by the sliding water droplet. The droplet fluid infusion over the dust particle enables to reorient the particle inside the droplet fluid. As the dust particle settles at the trailing edge of the droplet, the sliding velocity decays on the oil-impregnated sample.


Assuntos
Poeira , Óleos/química , Água/química , Interações Hidrofóbicas e Hidrofílicas , Propriedades de Superfície
5.
Exp Dermatol ; 28(11): 1309-1312, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31494967

RESUMO

BACKGROUND: The argyrophilic proteins of nuclear-organized regions (AgNOR), visualised with colloidal silver methods as black dots are known as AgNOR. To date, the relationship between AgNOR and cancer and inflammatory conditions has been investigated. However, there has been no report investigating the relationship between AgNOR and atopic dermatitis. The aim of this study was to investigate the relationship between atopic dermatitis and AgNOR in paediatric patients. METHODS: Twenty-nine children with atopic dermatitis and 23 healthy children were included in the study. AgNOR test results were analysed prospectively. RESULTS: The mean AgNOR number (40.19 ± 21.06) in the patient group was significantly higher than the control group (12.83 ± 10.40) (P < .001). CONCLUSIONS: This study investigated the association between AgNOR and atopic dermatitis for the first time in the literature. In the study, atopic dermatitis and AgNOR were found to be related. In the study, for the first time with the ROC analysis, AgNOR limit values with high sensitivity and specificity levels were determined in the diagnosis of atopic dermatitis.


Assuntos
Antígenos Nucleares/metabolismo , Dermatite Atópica/metabolismo , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
6.
Minerva Pediatr ; 68(6): 427-434, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26583452

RESUMO

BACKGROUND: The aim of this study was to investigate the experiences of Turkish mothers in teething period and the factors affecting teething. METHODS: This study was performed by filling in questionnaire forms with a face-to-face interview technique with the mothers of 792 patients presenting to the outpatient clinics of pediatrics of Fatih (Turgut Ozal) University Faculty of Medicine between 1 April and 31 July 2012. RESULTS: This study was conducted in a total of 792 children (mean age: 24.2±7.9, range 12-42 months; 430 males). Of the study population, 6.1% had a family history of premature teething, 9.7% had a family history of delayed teething, 98% had been breastfed, 91.9% had used vitamin D, 67.6% had used iron supplements, and 3.9% had fluorine use. The first teething was at 7.8±2.5 months and the first teeth to appear was the anterior lower incisor (58.7%). The symptoms the patients had during teething were irritability (64.9%), fever (64.1%), increased mastication (61.6%), increased salivation (58.2%), and diarrhea (45.6%). The rate of admission to a physician with these complaints was 19.6%. The factors affecting the teething time were a family history of premature or delayed teething and birth with natal tooth, and male gender. CONCLUSIONS: In this study we found that nutritional or local factors were not effective on teething time. Teething period was characterized by nonspecific symptoms including irritability, subfebrile fever, increased mastication and salivation, and diarrhea. Linear regression analysis revealed that male gender and a family history of premature teething were the factors responsible from a shortening in teething time.


Assuntos
Diarreia/epidemiologia , Febre/epidemiologia , Sialorreia/epidemiologia , Erupção Dentária , Pré-Escolar , Feminino , Flúor/administração & dosagem , Humanos , Lactente , Entrevistas como Assunto , Compostos de Ferro/administração & dosagem , Modelos Lineares , Masculino , Mastigação/fisiologia , Mães , Fatores Sexuais , Inquéritos e Questionários , Fatores de Tempo , Turquia , Vitamina D/administração & dosagem
7.
Int J Neurosci ; 124(11): 859-62, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24397499

RESUMO

IMPORTANCE: To describe a case of predominantly motor polyradiculopathy secondary to Lyme disease that can mimic motor neuron disease and has been rarely reported. OBSERVATIONS: A 64-year-old man presented with a 1-month history of rapidly progressive weakness involving bulbar, upper limb and lower limb muscles. The physical examination showed widespread weakness, atrophy, fasciculation, and brisk reflexes. The initial electrodiagnostic test showed widespread active and chronic denervation findings. The initial physical and electrodiagnostic findings were suggestive of Amyotrophic Lateral Sclerosis (ALS). However, blood serology indicated possible Lyme disease. Thus, the patient was treated with doxycycline. The clinical and electrodiagnostic findings were resolved with the treatment. CONCLUSION AND RELEVANCE: The diagnosis of Lyme disease can be very challenging and it can mimic other neurological disorders such as ALS or Guillain-Barre syndrome (GBS). Careful and detailed examination and investigation are required to confirm the diagnosis and to prevent misleading inaccurate diagnoses.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Doença de Lyme/diagnóstico , Polirradiculopatia/diagnóstico , Diagnóstico Diferencial , Síndrome de Guillain-Barré/diagnóstico , Humanos , Doença de Lyme/complicações , Masculino , Pessoa de Meia-Idade , Polirradiculopatia/complicações
8.
Int J Neurosci ; 124(7): 542-6, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24147570

RESUMO

Martin-Gruber anastomosis (MGA) is the most common nerve anastomosis in the upper extremities and it crosses from the median nerve to the ulnar nerve. Proximal MGA is an under recognized anastomosis between the ulnar and median nerves at or above the elbow and should not be missed during nerve conduction studies. We presented two patients with ulnar neuropathy mimicking findings including numbness and tingling of the 4th and 5th digits and mild weakness of intrinsic hand muscles. However, both cases had an apparently remarkable conduction block between the below- and above-elbow sites that was disproportionate to their clinical findings. To explain this discrepancy, a large MGA was detected with stimulation of the median nerve at the elbow. Thus, proximal MGA should be considered in ulnar neuropathy at the elbow when apparent conduction block or/and discrepancy between clinical and electrodiagnostic findings is found.


Assuntos
Nervo Mediano/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Condução Nervosa/fisiologia , Nervo Ulnar/anormalidades , Neuropatias Ulnares/diagnóstico , Eletrodiagnóstico , Humanos , Masculino , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/fisiopatologia , Nervo Ulnar/fisiopatologia , Neuropatias Ulnares/etiologia , Neuropatias Ulnares/fisiopatologia
9.
Prehosp Disaster Med ; : 1-8, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38680063

RESUMO

INTRODUCTION: Earthquakes rank among the most deadly natural disasters, and children are particularly affected due to their inherent vulnerability. Following an earthquake, there is a substantial increase in visits to emergency services. These visits stem not only from patients seeking care for physical traumas resulting from the earthquake and its subsequent complications, but also from individuals affected by the circumstances created by the disaster. STUDY OBJECTIVE: This study aims to determine the characteristics and outcomes of children who presented to the pediatric emergency department (PED) after the earthquake and to evaluate children who had crush injuries at a referral tertiary university hospital away from the earthquake area. METHODS: The medical records of children who presented to the PED from the earthquake area from February 6 through March 7, 2023 were retrospectively reviewed. Children rescued from under rubble were categorized as Group 1, those affected by earthquake conditions as Group 2, and patients seeking medical attention due to the follow-up of chronic illnesses were considered as Group 3. Patient data, including sociodemographic characteristics, time period under rubble (TPR), laboratory findings, and details of medical and surgical procedures, developing acute kidney injury (AKI), and the requirement for hemodialysis were recorded. RESULTS: A total of 252 children were enrolled in the study, with 52 (20.6%) in Group 1, 180 (71.4%) in Group 2, and 16 (6.0%) in Group 3. The median age was six (IQR = 1.7-12.1) years. In the first group (n = 52), 46 (85.2%) children experienced crush injuries, 25 children (46.3%) developed crush syndrome, and 14 of them (14/25; 56.0%) required dialysis. In the second group, the most common diagnoses were upper respiratory tract infections (n = 69; 37.9%), acute gastroenteritis (n = 23; 12.6%), simple physical trauma (n = 16; 8.8%), and lower respiratory tract infections (n = 13; 7.1%). For children in the third group, pediatric neurology (n = 5; 33.3%), pediatric oncology (n = 4; 25.0%), and pediatric nephrology (n = 3; 18.8%) were the most frequently referred specialties. CONCLUSION: Crush injuries, crush syndrome, and AKI were the most common problems in the early days following the earthquake. Along with these patients, children who were affected by the environmental conditions caused by the earthquake, as well as children with chronic illnesses, also accounted for a significant portion of visits to the PED, even if they were distant from the disaster area.

10.
bioRxiv ; 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38370793

RESUMO

Bacteria evolving within human hosts encounter selective tradeoffs that render mutations adaptive in one context and deleterious in another. Here, we report that the cystic fibrosis-associated pathogen Burkholderia dolosa overcomes in-human selective tradeoffs by acquiring successive point mutations that alternate phenotypes. We sequenced the whole genomes of 931 respiratory isolates from two recently infected patients and an epidemiologically-linked, chronically-infected patient. These isolates are contextualized using 112 historical genomes from the same outbreak strain. Within both newly infected patients, diverse parallel mutations that disrupt O-antigen expression quickly arose, comprising 29% and 63% of their B. dolosa communities by 3 years. The selection for loss of O-antigen starkly contrasts with our previous observation of parallel O-antigen-restoring mutations after many years of chronic infection in the historical outbreak. Experimental characterization revealed that O-antigen loss increases uptake in immune cells while decreasing competitiveness in the mouse lung. We propose that the balance of these pressures, and thus whether O-antigen expression is advantageous, depends on tissue localization and infection duration. These results suggest that mutation-driven alternation during infection may be more frequent than appreciated and is underestimated without dense temporal sampling.

11.
N Engl J Med ; 363(21): 1991-2003, 2010 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-21083385

RESUMO

BACKGROUND: A new approach in the treatment of cystic fibrosis involves improving the function of mutant cystic fibrosis transmembrane conductance regulator (CFTR). VX-770, a CFTR potentiator, has been shown to increase the activity of wild-type and defective cell-surface CFTR in vitro. METHODS: We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study). RESULTS: At day 28, in the group of subjects who received 150 mg of VX-770, the median change in the nasal potential difference (in response to the administration of a chloride-free isoproterenol solution) from baseline was -3.5 mV (range, -8.3 to 0.5; P=0.02 for the within-subject comparison, P=0.13 vs. placebo), and the median change in the level of sweat chloride was -59.5 mmol per liter (range, -66.0 to -19.0; P=0.008 within-subject, P=0.02 vs. placebo). The median change from baseline in the percent of predicted forced expiratory volume in 1 second was 8.7% (range, 2.3 to 31.3; P=0.008 for the within-subject comparison, P=0.56 vs. placebo). None of the subjects withdrew from the study. Six severe adverse events occurred in two subjects (diffuse macular rash in one subject and five incidents of elevated blood and urine glucose levels in one subject with diabetes). All severe adverse events resolved without the discontinuation of VX-770. CONCLUSIONS: This study to evaluate the safety and adverse-event profile of VX-770 showed that VX-770 was associated with within-subject improvements in CFTR and lung function. These findings provide support for further studies of pharmacologic potentiation of CFTR as a means to treat cystic fibrosis. (Funded by Vertex Pharmaceuticals and others; ClinicalTrials.gov number, NCT00457821.).


Assuntos
Aminofenóis/uso terapêutico , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/tratamento farmacológico , Quinolonas/uso terapêutico , Adulto , Aminofenóis/efeitos adversos , Cloretos/análise , Estudos Cross-Over , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Método Duplo-Cego , Feminino , Volume Expiratório Forçado , Humanos , Canais Iônicos/metabolismo , Masculino , Potenciais da Membrana , Pessoa de Meia-Idade , Mutação , Mucosa Nasal/fisiologia , Quinolonas/efeitos adversos , Suor/química , Adulto Jovem
12.
Sci Rep ; 13(1): 15030, 2023 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-37699961

RESUMO

Cystic fibrosis transmembrane conductance regulator modulators have revolutionized cystic fibrosis (CF) care in the past decade. This study explores the CF-related mortality trends in the US from 1999 to 2020. We extracted CF-related mortality data from the CDC WONDER database. CF age-standardized mortality rates (ASMRs) were identified by ICD-10 code E84 and were stratified by demographic and geographical variables. Temporal trends were analyzed using Joinpoint modeling. CF-related ASMRs decreased from 1.9 to 1.04 per million population (p = 0.013), with a greater reduction in recent years. This trend was replicated in both sexes. The median age of death increased from 24 to 37 years. CF mortality rates decreased across sex, white race, non-Hispanic ethnicity, census regions, and urbanization status. Incongruent trends were reported in non-white races and Hispanic ethnicity. A lower median age of death was observed in women, non-white races, and Hispanic ethnicity. SARS-CoV-2 infection was the primary cause of death in 1.7% of CF decedents in 2020. The national CF-related mortality rates declined and the median age of death among CF decedents increased significantly indicating better survival in the recent years. The changes were relatively slow during the earlier period of the study, followed by a greater decline lately. We observed patterns of sex, ethnic, racial, and geographical disparities associated with the worsening of the gap between ethnicities, narrowing of the gap between races and rural vs. urban counties, and closing of the gap between sexes over the study period.


Assuntos
COVID-19 , Fibrose Cística , Masculino , Humanos , Estados Unidos/epidemiologia , Feminino , Adulto Jovem , Adulto , SARS-CoV-2 , Etnicidade , Brancos
13.
Lancet Respir Med ; 11(6): 550-562, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36842446

RESUMO

BACKGROUND: Elexacaftor-tezacaftor-ivacaftor has been shown to be safe and efficacious in people with cystic fibrosis and at least one F508del allele. Our aim was to identify a novel cystic fibrosis transmembrane conductance regulator (CFTR) modulator combination capable of further increasing CFTR-mediated chloride transport, with the potential for once-daily dosing. METHODS: We conducted two phase 2 clinical trials to assess the safety and efficacy of a once-daily combination of vanzacaftor-tezacaftor-deutivacaftor in participants with cystic fibrosis who were aged 18 years or older. A phase 2 randomised, double-blind, active-controlled study (VX18-561-101; April 17, 2019, to Aug 20, 2020) was carried out to compare deutivacaftor monotherapy with ivacaftor monotherapy in participants with CFTR gating mutations, following a 4-week ivacaftor monotherapy run-in period. Participants were randomly assigned to receive either ivacaftor 150 mg every 12 h, deutivacaftor 25 mg once daily, deutivacaftor 50 mg once daily, deutivacaftor 150 mg once daily, or deutivacaftor 250 mg once daily in a 1:1:2:2:2 ratio. The primary endpoint was absolute change in ppFEV1 from baseline at week 12. A phase 2 randomised, double-blind, controlled, proof-of-concept study of vanzacaftor-tezacaftor-deutivacaftor (VX18-121-101; April 30, 2019, to Dec 10, 2019) was conducted in participants with cystic fibrosis and heterozygous for F508del and a minimal function mutation (F/MF genotypes) or homozygous for F508del (F/F genotype). Participants with F/MF genotypes were randomly assigned 1:2:2:1 to receive either 5 mg, 10 mg, or 20 mg of vanzacaftor in combination with tezacaftor-deutivacaftor or a triple placebo for 4 weeks, and participants with the F/F genotype were randomly assigned 2:1 to receive either vanzacaftor (20 mg)-tezacaftor-deutivacaftor or tezacaftor-ivacaftor active control for 4 weeks, following a 4-week tezacaftor-ivacaftor run-in period. Primary endpoints for part 1 and part 2 were safety and tolerability and absolute change in ppFEV1 from baseline to day 29. Secondary efficacy endpoints were absolute change from baseline at day 29 in sweat chloride concentrations and Cystic Fibrosis Questionnaire-Revised (CFQ-R) respiratory domain score. These clinical trials are registered with ClinicalTrials.gov, NCT03911713 and NCT03912233, and are complete. FINDINGS: In study VX18-561-101, participants treated with deutivacaftor 150 mg once daily (n=23) or deutivacaftor 250 mg once daily (n=24) had mean absolute changes in ppFEV1 of 3·1 percentage points (95% CI -0·8 to 7·0) and 2·7 percentage points (-1·0 to 6·5) from baseline at week 12, respectively, versus -0·8 percentage points (-6·2 to 4·7) with ivacaftor 150 mg every 12 h (n=11); the deutivacaftor safety profile was consistent with the established safety profile of ivacaftor 150 mg every 12 h. In study VX18-121-101, participants with F/MF genotypes treated with vanzacaftor (5 mg)-tezacaftor-deutivacaftor (n=9), vanzacaftor (10 mg)-tezacaftor-deutivacaftor (n=19), vanzacaftor (20 mg)-tezacaftor-deutivacaftor (n=20), and placebo (n=10) had mean changes relative to baseline at day 29 in ppFEV1 of 4·6 percentage points (-1·3 to 10·6), 14·2 percentage points (10·0 to 18·4), 9·8 percentage points (5·7 to 13·8), and 1·9 percentage points (-4·1 to 8·0), respectively, in sweat chloride concentration of -42·8 mmol/L (-51·7 to -34·0), -45·8 mmol/L (95% CI -51·9 to -39·7), -49·5 mmol/L (-55·9 to -43·1), and 2·3 mmol/L (-7·0 to 11·6), respectively, and in CFQ-R respiratory domain score of 17·6 points (3·5 to 31·6), 21·2 points (11·9 to 30·6), 29·8 points (21·0 to 38·7), and 3·3 points (-10·1 to 16·6), respectively. Participants with the F/F genotype treated with vanzacaftor (20 mg)-tezacaftor-deutivacaftor (n=18) and tezacaftor-ivacaftor (n=10) had mean changes relative to baseline (taking tezacaftor-ivacaftor) at day 29 in ppFEV1 of 15·9 percentage points (11·3 to 20·6) and -0·1 percentage points (-6·4 to 6·1), respectively, in sweat chloride concentration of -45·5 mmol/L (-49·7 to -41·3) and -2·6 mmol/L (-8·2 to 3·1), respectively, and in CFQ-R respiratory domain score of 19·4 points (95% CI 10·5 to 28·3) and -5·0 points (-16·9 to 7·0), respectively. The most common adverse events overall were cough, increased sputum, and headache. One participant in the vanzacaftor-tezacaftor-deutivacaftor group had a serious adverse event of infective pulmonary exacerbation and another participant had a serious rash event that led to treatment discontinuation. For most participants, adverse events were mild or moderate in severity. INTERPRETATION: Once-daily dosing with vanzacaftor-tezacaftor-deutivacaftor was safe and well tolerated and improved lung function, respiratory symptoms, and CFTR function. These results support the continued investigation of vanzacaftor-tezacaftor-deutivacaftor in phase 3 clinical trials compared with elexacaftor-tezacaftor-ivacaftor. FUNDING: Vertex Pharmaceuticals.


Assuntos
Fibrose Cística , Humanos , Adulto , Fibrose Cística/tratamento farmacológico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Cloretos , Volume Expiratório Forçado , Aminofenóis/efeitos adversos , Benzodioxóis/uso terapêutico , Mutação , Método Duplo-Cego , Agonistas dos Canais de Cloreto/uso terapêutico
14.
Muscle Nerve ; 46(5): 681-6, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23055310

RESUMO

Ocular movements and coordination require complex and integrated functions of somatic and autonomic nervous systems. Neurological disorders affecting these nervous systems may cause ocular dysfunction involving extraocular muscles and pupils. In this article, the prevalence, clinical presentations, and management of ocular neuropathy related to certain peripheral neuropathies, including diabetic neuropathy, Guillain-Barré syndrome (GBS), chronic inflammatory neuropathies, human immunodeficiency virus (HIV)-associated neuropathy, and hereditary neuropathies, are examined in detail.


Assuntos
Oftalmopatias/diagnóstico , Oftalmopatias/terapia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/terapia , Animais , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/epidemiologia , Neuropatias Diabéticas/terapia , Oftalmopatias/epidemiologia , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/terapia , Humanos , Doenças do Sistema Nervoso Periférico/epidemiologia , Polineuropatias/diagnóstico , Polineuropatias/epidemiologia , Polineuropatias/terapia
15.
Muscle Nerve ; 45(6): 891-3, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22581544

RESUMO

The aim of this study was to assess the electrodiagnostic (EDx) sensitivity of proximal lower extremity muscles, including tensor fascia lata (TFL) and gluteus medius (GMED), in the diagnosis of L5 radiculopathy.Eleven EDx recordings with L5 radiculopathy were collected. The motor unit action potentials were assessed for morphology, stability, and firing characteristics. A descriptive analysis was performed. In proximal L5-supplied muscles, 4 of 11 recordings were abnormal in TFL only, with normal GMED; 4 of 11 recordings had similar findings in both muscles; 2 of 11 had abnormal findings in both muscles, but TFL had more noticeable findings; and 1 had abnormal findings in both muscles, but GMED findings were more noticeable. No patient had abnormalities limited to GMED. TFL was more sensitive than GMED in detecting L5 radiculopathy. Knowing which muscles are more likely to show abnormalities can improve the efficiency of EMG and reduce patient discomfort. Muscle Nerve 45: 891-893, 2012.


Assuntos
Eletrodiagnóstico/métodos , Vértebras Lombares , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Radiculopatia/diagnóstico , Radiculopatia/fisiopatologia , Potenciais de Ação/fisiologia , Nádegas , Eletromiografia , Fascia Lata/inervação , Fascia Lata/fisiopatologia , Humanos , Extremidade Inferior , Denervação Muscular , Estudos Prospectivos , Sensibilidade e Especificidade
16.
Muscle Nerve ; 45(1): 144-6, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22190323

RESUMO

Flecainide acetate is a classic Ic antiarrhythmic agent used to treat a variety of cardiac arrhythmias. Non-cardiac side effects usually affect the central nervous system. Few case reports of possible flecainide-induced peripheral neuropathy have been reported. We report this unique case in that flecainide-induced sensory neuropathy was confirmed with skin biopsy, and subsequent improvement of neuropathy was documented with assessment of intraepidermal nerve fiber density in a repeat nerve biopsy.


Assuntos
Antiarrítmicos/efeitos adversos , Biópsia/métodos , Flecainida/efeitos adversos , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/diagnóstico , Pele/patologia , Idoso , Humanos , Masculino , Doenças do Sistema Nervoso Periférico/fisiopatologia
17.
Muscle Nerve ; 45(1): 2-8, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22190298

RESUMO

Normal bladder function depends on the complex interaction of sensory and motor pathways. Bladder dysfunction can develop as a result of several neurological conditions. It can happen in a number of ways, including diabetic cystopathy, detrusor overactivity, bladder outlet obstruction, and urge and stress urinary incontinence. Diabetic neuropathy is the most common cause of peripheral neuropathy-associated bladder dysfunction. Guillain-Barré syndrome (GBS), human immunodeficiency virus (HIV)-associated neuropathy, chronic inflammatory demyelinating polyneuropathy (CIDP), and amyloid neuropathy are other major causes. The diagnosis of bladder dysfunction should be established by the history of neurological symptoms, neurological examination, and urological evaluation. Functional evaluation of the lower urinary tract includes cystometry, sphincter electromyography, uroflowmetry, and urethral pressure profilometry. Management of urinary symptoms in patients with bladder dysfunction is usually supportive. In some cases, alpha-blocker and/or anti-muscarinic agents are needed to help improve urinary dysfunction. Intermittent self-catheterization is needed occasionally for patients with slow and/or poor recovery.


Assuntos
Doenças do Sistema Nervoso Periférico/complicações , Doenças da Bexiga Urinária/etiologia , Eletrodiagnóstico , Humanos , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/terapia , Doenças da Bexiga Urinária/diagnóstico , Doenças da Bexiga Urinária/terapia , Sistema Urinário/anatomia & histologia , Fenômenos Fisiológicos do Sistema Urinário
18.
Case Rep Neurol ; 14(1): 208-212, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35702058

RESUMO

COVID-19 has caused several neurological complications by affecting the central and peripheral nervous systems (PNS). Studies on the PNS involvement in COVID-19 are limited. These complications are likely unreported, given the difficulty of obtaining further diagnostic information, such as expert neurologist evaluation, electrodiagnostic testing, and skin biopsy. Herein, we report 2 cases of possible COVID-19-related small-fiber neuropathy (SFN). These cases are reported to increase awareness of a possible link between COVID-19 and SFN. Additional investigation, including neurology consultation, nerve conduction studies, and skin biopsy, should be considered in patients who develop paresthesia during and after COVID-19 infection. Further research is also needed to determine a possible underlying neuropathology mechanism and the role of immunomodulatory treatment, such as intravenous immunoglobulin, in COVID-19-related SFN.

19.
Neurol Int ; 13(1): 125-129, 2021 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-33803548

RESUMO

In the US, Lyme disease (LD) has become the most common vector-borne disease. Less than 10% of patients develop cranial nerve palsy or meningitis. There are few reports on cases of Lyme disease with more than one cranial neuropathy. Herein, we will discuss a case of persistent neurological deficits as a result of chronic Lyme disease resistant to standard therapy. Our case is unique due to involvements of cranial seven and eight nerves at the same time. Our case illustrates an extreme example of treatment resistance. However, early diagnosis and prompt establishment of adequate antibiotic treatment are still important to prevent progression to further stages of disease.

20.
Polymers (Basel) ; 13(9)2021 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-33946140

RESUMO

Polycarbonate sheets are optically transparent and have the potential to be used as one of the cover materials for PV applications. Solution treatment of polycarbonate surfaces enables to create surface texture topology giving rise to a hydrophobic state, which is favorable for self-cleaning applications. In the present study, hydrophobization of polycarbonate surface is investigated via crystallization of surface by a one-step process. The influence of texture topology, which is created via crystallization, on water droplet mobility and optical transmittance is examined. Findings revealed that solution treatment, using acetone, results in crystallized polycarbonate surfaces with a hydrophobic state. Depending on the treatment duration, the texture characteristics of crystallized surface change while influencing the water contact angle hysteresis. This in turn affects the droplet mobility over the inclined crystallized surface and alters the UV visible transmittance. Moreover, the droplet mobility improves and dust mitigation rates from the treated surface increase as the solution treatment duration are reduced to 2 min. Oil impregnated samples result in improved UV visible transmittance; however, droplet motion changes from rolling to sliding over the surface. A sliding water droplet enables the removal of the dust particles from the oil-impregnated sample surface.

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