Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 441
Filtrar
1.
Anaesthesia ; 2024 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-38403817

RESUMEN

There is increasing interest in the use of short-acting opioids such as remifentanil to facilitate tracheal intubation. The aim of this systematic review was to determine the efficacy and safety of remifentanil for tracheal intubation compared with neuromuscular blocking drugs in adult patients. We conducted a systematic search for randomised controlled trials evaluating remifentanil for tracheal intubation. Primary outcomes included tracheal intubation conditions and adverse events. Twenty-one studies evaluating 1945 participants were included in the analysis. Use of remifentanil (1.5-4.0 µg.kg-1 ) showed no evidence of a difference in tracheal intubation success rate compared with neuromuscular blocking drugs (risk ratio (95%CI) 0.97 (0.94-1.01); six studies; 1232 participants; I2 28%; p = 0.16; moderate-certainty evidence). Compared with neuromuscular blocking drugs, the use of remifentanil (2.0-4.0 µg.kg-1 ) makes little to no difference in terms of producing excellent tracheal intubation conditions (risk ratio (95%CI) 1.16 (0.72-1.87); two studies; 121 participants; I2 31%, p = 0.54; moderate-certainty of evidence). There was no evidence of an effect between remifentanil (2.0-4.0 µg.kg-1 ) and neuromuscular blocking drugs for bradycardia (risk ratio (95%CI) 0.44 (0.01-13.90); two studies; 997 participants; I2 81%; p = 0.64) and hypotension (risk ratio (95%CI) 1.05 (0.44-2.49); three studies; 1071 participants; I2 92%; p = 0.92). However, the evidence for these two outcomes was judged to be of very low-certainty. We conclude that remifentanil may be used as an alternative drug for tracheal intubation in cases where neuromuscular blocking drugs are best avoided, but more studies are required to evaluate the haemodynamic adverse events of remifentanil at different doses.

5.
Int J Obstet Anesth ; 54: 103637, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36827944

RESUMEN

BACKGROUND: Prediction of a difficult airway is of paramount importance for an anaesthesiologist. Various anatomical and physiological factors contribute to a difficult airway in pregnant females, especially those with pre-eclampsia. The aim of the study was to assess airway indices using both routinely used clinical methods and ultrasound. METHODS: Fifty-five non-pregnant females, 55 normotensive pregnant females and 55 females with pre-eclampsia were included in this prospective study. Clinical airway assessment was the modified Mallampati score, thyromental distance, hyomental distance, hyomental distance ratio, chest circumference, neck circumference and chest-to-neck circumference ratio. Sonographic assessment included tongue width, tongue volume, anterior neck soft tissue thickness at the level of hyoid, epiglottis and vocal cords, subglottic diameter, ratio of pre-epiglottic space to anterior, posterior and midpoint of anterior and posterior vocal folds. RESULTS: Several significant differences were observed between pregnant and non-pregnant females, with additional changes in pre-eclamptic females. These included clinical parameters such as the modified Mallampati score and sonographic measurements of tongue width, tongue volume, subglottic diameter, anterior neck soft tissue thickness at the level of hyoid, epiglottis and vocal cords, and the ratio of pre-epiglottic space to anterior, posterior and midpoint of anterior and posterior vocal folds. CONCLUSION: Routinely used clinical methods of airway assessment lack sensitivity and specificity. Ultrasound can visualise anatomical structures in the supraglottic and subglottic views and is encouraging as an airway assessment tool.


Asunto(s)
Preeclampsia , Embarazo , Femenino , Humanos , Estudios Prospectivos , Preeclampsia/diagnóstico por imagen , Lengua , Hueso Hioides , Intubación Intratraqueal/métodos
6.
BMC Rheumatol ; 6(1): 80, 2022 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-36243873

RESUMEN

BACKGROUND: For many children and young people (CYP) with paediatric rheumatic conditions, glucocorticoid medications and their associated side-effects have a substantial impact on disease experience. Whilst there are physician-rated measures of glucocorticoid toxicity, no parallel patient reported measure has been developed to date for CYP with rheumatic disease. This manuscript describes a series of public patient involvement (PPI) events to inform the development of a future paediatric glucocorticoid-associated patient reported outcome measure (PROM). METHODS: One large group PPI event was advertised to CYP with experience of glucocorticoid medication use and their parents through clinicians, charities and existing PPI groups. This featured education on the team's research into glucocorticoid medication and interactive polls/structured discussion to help participants share their experiences. Further engagement was sought for PPI group work to co-develop future glucocorticoid studies, including development of a glucocorticoid associated PROM. Quantitative and qualitative feedback was collected from online questionnaires. The initiative was held virtually due to the Covid-19 pandemic. RESULTS: Nine families (n = 15) including 6 CYP joined the large group PPI event. Online pre-attendance and post-attendance questionnaires showed improvement in mean self-reported confidence [1 = not at all confident, 5 = very confident] in the following: what steroid medications are (pre = 3.9, post = 4.8), steroid side effects (pre = 3.8, post = 4.6), patient-reported outcome measures (pre = 2.0, post = 4.5), available research on steroids (pre = 2.2, post = 3.5). Five families (n = 7) were involved in a monthly PPI group who worked alongside the research team to identify priorities in glucocorticoid research, produce age-appropriate study materials, identify barriers to study participation (e.g. accessibility & convenience) and recommend appropriate modalities for dissemination. The participants found discussing shared experiences and learning about research to be the most enjoyable aspects of the initiative. CONCLUSIONS: This PPI initiative provided a valuable forum for families, including young children, to share their perspectives. Here, the authors explore the effective use of PPI in a virtual setting and provide a unique case study for the involvement of CYP in PROM development. The monthly PPI group also identified a need for the development of a new PROM related to glucocorticoid medication use and provided unique insights into how such a study could be structured.

7.
J Postgrad Med ; 68(4): 231-232, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36255016

Asunto(s)
Publicidad , Hipnosis , Humanos
9.
J Electron Mater ; 51(10): 5482-5491, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35935037

RESUMEN

We report herein the synthesis of ZnFe2O4 (ZF) nanoparticles via a simple and eco-friendly green route using lemon juice as a reducing agent and fuel. The effect of different calcination temperatures on the particle size and bandgap of grown ZF nanoparticles was investigated. The structural, morphological and optical properties of the synthesized nanoparticles were evaluated using synchrotron x-ray diffraction (S-XRD), field emission scanning electron microscopy (FE-SEM) and UV-visible diffuse reflectance spectroscopy (UV-Vis-DRS), respectively. S-XRD confirmed a spinel F-d3m phase in all four samples calcined at 350°C, 550°C, 750°C and 1000°C. The crystallite size calculated from the Debye-Scherrer equation showed an increase from 14 nm to 20 nm with the increase in calcination temperature. Williamson-Hall (W-H) analysis revealed an increase in the particle size from 16 nm to 21 nm and a decrease in the lattice microstrain from 0.913 × 10-3 to 0.154 × 10-4 with the increase in calcination temperature. The optical bandgap of the ZF nanoparticles obtained from UV-Vis-DRS decreased from 2.265 eV to 2.225 eV with the increase in calcination temperature. The ZF nanoparticles with tunable particle size, lattice microstrain and optical bandgap have potential application in ferrofluid, electromagnetic shielding, photocatalysis, hyperthermia, dye degradation and other areas. Supplementary Information: The online version contains supplementary material available at 10.1007/s11664-022-09813-2.

10.
J Laryngol Otol ; 136(8): 765-768, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35550682

RESUMEN

BACKGROUND: The aggressiveness of paediatric cholesteatoma has long been a matter of debate. While much of the evidence is substantiated by data from the Western world, it is further limited by the retrospective nature of most studies. Therefore, this paper presents a comparative analysis of various characteristics of cholesteatoma between paediatric and adult populations seen at our centre. METHODS: A total of 50 patients (25 adults and 25 paediatric) with clinical diagnosis of chronic suppurative otitis media with cholesteatoma underwent canal wall down mastoidectomy over a period of two years. The intra-operative findings were noted and patients were followed up for six months. RESULTS: There was more extensive spread and ossicular erosion in paediatric cases. However, complications such as facial canal dehiscence and lateral semicircular canal dehiscence were more common in adults. CONCLUSION: Paediatric cholesteatoma is more aggressive and invasive than adult cholesteatoma, and the clinical behaviour is consistent with findings from other parts of the world.


Asunto(s)
Colesteatoma del Oído Medio , Colesteatoma , Otitis Media Supurativa , Otitis Media , Adulto , Niño , Colesteatoma/cirugía , Colesteatoma del Oído Medio/complicaciones , Colesteatoma del Oído Medio/cirugía , Enfermedad Crónica , Humanos , Apófisis Mastoides/cirugía , Mastoidectomía/efectos adversos , Otitis Media/cirugía , Otitis Media Supurativa/cirugía , Estudios Retrospectivos
11.
Clin Oncol (R Coll Radiol) ; 34(7): 442-451, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35123850

RESUMEN

AIMS: We implemented magnetic resonance imaging-based image-guided adaptive brachytherapy (IGABT) for the management of cervical cancer at the Northern Centre for Cancer Care in January 2015. The Royal College of Radiologists recommended IGABT as the new standard of care for the management of cervical cancer in the UK in 2009, following earlier publication of recommendations of Groupe European de Curietherapie of the European Society for Radiotherapy and Oncology for three-dimensional magnetic resonance imaging-based IGABT. The purpose of this study was to investigate if the introduction of IGABT in the management of cervical cancer at our institute indeed improved the treatment outcomes with a better toxicity profile as compared with conventional brachytherapy (CBT). PATIENTS AND METHODS: A retrospective analysis of 213 patients with International Federation of Gynecology and Obstetrics stage IB-IVA cervical cancer treated with curative radiotherapy ± chemotherapy at the Northern Centre for Cancer Care was carried out for the period January 2010 to December 2019. Patients were categorised into three groups based on their brachytherapy planning process. Fifty-eight patients were treated with CBT, 35 patients were treated with retrospective brachytherapy (RBT) planning and 120 patients were treated with IGABT. Eighty-six per cent received concomitant chemotherapy with cisplatin. Outcome measures were local control rates, overall and progression-free survival, and impact on treatment-related toxicities. RESULTS: The median follow-up was 36, 32 and 25 months for CBT, RBT and IGABT, respectively. Three-year local control achieved was 70.4, 77.8 and 86.9%, respectively. Three-year overall survival was 53.8, 61.1 and 86.2%, respectively. Grade 2 or 3 bladder and bowel toxicity was 8% and 10% in IGABT group versus 20% and 27% in the CBT group. CONCLUSION: Our analysis indicated that IGABT proved to be very effective in not only improving locoregional control, but also offered quality survivorship to these women, with a significant drop in radiation-related bladder and bowel toxicities.


Asunto(s)
Braquiterapia , Radioterapia Guiada por Imagen , Neoplasias del Cuello Uterino , Braquiterapia/métodos , Femenino , Humanos , Imagen por Resonancia Magnética , Estadificación de Neoplasias , Dosificación Radioterapéutica , Radioterapia Guiada por Imagen/métodos , Estudios Retrospectivos , Resultado del Tratamiento , Neoplasias del Cuello Uterino/diagnóstico por imagen , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/radioterapia
13.
J Anaesthesiol Clin Pharmacol ; 37(3): 469-474, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34759564

RESUMEN

BACKGROUND AND AIMS: To evaluate the role of experience in acquisition of skill of orotracheal intubation in adults. MATERIAL AND METHODS: A prospective randomized study was conducted on 307 patients of either sex, belonging to ASA grade I and II (aged 18-60 years) posted for surgery under general anaesthesia. The patients were subjected to DL and ETI procedure, which was performed by five different groups of participants. Group 1 consisted of first-year resident of anaesthesiology with experience of less than 10 intubations, group 2 for second-year resident, group 3 for third-year resident, group 4 for senior resident and group 5 for consultant. Ease of mask ventilation, time taken for intubation, number of attempts, success rate, and ease of intubation were assessed for all the groups. RESULTS: Categorical variables were analysed using Chi-square test. For all statistical tests, a P value less than 0.05 was taken as a significant difference. Maximum difficulty in mask ventilation was encountered by group 1 anaesthesiologist, that is, in 69.2% of the patients. Group 1 took maximum time to intubate, that is, 47.98 ± 31.54 sec and least time was taken by group 5 anaesthesiologist (9.55 ± 6.93) sec. First attempt success rate was least in group (80.0%). Group 1 had success rate of 96.9%, whereas rest all groups had 100% success. CONCLUSION: Skill of mask ventilation and intubation and time taken for intubation grossly improves with increasing experience. Minimum of 25 intubation attempts should be required by an anaesthesiologist resident in elective scenario to achieve 100% success rate in our study.

14.
Epilepsy Behav ; 106: 106967, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32179501

RESUMEN

PURPOSE: This multicenter service evaluation explores the efficacy and tolerability of brivaracetam (BRV) in an unselected, consecutive population in 'real-life' clinical settings. METHOD: We retrospectively collected data from patient records at 11 UK hospitals and epilepsy centers. Consecutive patients prescribed BRV with at least 3 months of follow-up (FU) were included. Apart from reporting effectiveness and tolerability of BRV across the whole cohort, we compared treatment outcomes depending on previous levetiracetam use (LEV+ versus LEV-), comorbid learning disability (LD+ versus LD-), and epilepsy syndrome (focal versus generalized epilepsy). RESULTS: Two hundred and ninety patients (46% male, median age: 38 years, range: 15 to 77) with ≥3 months of FU were included. The median duration of BRV exposure was 12 months (range: 1 day to 72 months). Overall BRV retention was 71.1%. While 56.1% of patients improved in terms of seizure frequency category (daily, weekly, monthly, yearly seizures), 23.1% did not improve on this measure and 20.8% deteriorated. In terms of seizure frequency, 21% of patients experienced a ≥50% reduction, with 7.0% of all patients becoming seizure-free. Treatment-emergent adverse events (AEs) were reported by 107 (36.9%) patients, but there were no serious AEs. The commonest AEs were sedation/fatigue (18.3%), mood changes (9.0%), and irritability/aggression (4.8%). There were no significant differences in drug retention, seizure frequency outcomes, or AEs between the LEV+ and LEV- subgroups, or between patients with generalized or focal epilepsies. Although 15.5% of patients in the LD+ group achieved a ≥50% reduction, this rate was lower than in the LD- group. CONCLUSIONS: This 'real-life' evaluation suggests that reductions in seizure frequency can be achieved with BRV in patients with highly refractory epilepsy. Brivaracetam may be a useful treatment option in patients who have previously failed to respond to or tolerate LEV, those with LD, or (off-label) those with generalized epilepsies.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/epidemiología , Epilepsia Generalizada/tratamiento farmacológico , Epilepsia Generalizada/epidemiología , Pirrolidinonas/uso terapéutico , Adolescente , Adulto , Anciano , Anticonvulsivantes/efectos adversos , Estudios de Cohortes , Fatiga/inducido químicamente , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pirrolidinonas/efectos adversos , Estudios Retrospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/epidemiología , Resultado del Tratamiento , Reino Unido/epidemiología , Adulto Joven
15.
Diabet Med ; 37(6): 1058-1065, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32112453

RESUMEN

AIM: To evaluate the burden and association of cardiometabolic risk factors in the spouses of women with and without hyperglycaemia in pregnancy. METHODS: Women with (n = 204) and without (n = 197) hyperglycaemia in pregnancy, along with their spouses, participated in this cross-sectional study. The hyperglycaemia in pregnancy group included women with gestational diabetes and diabetes in pregnancy. A detailed questionnaire was completed for all participants (men and women), documenting relevant personal and medical history, along with biochemical investigations (men). RESULTS: A total of 401 couples were evaluated at the time point during the pregnancy of 24.7 ± 5.2 gestational weeks (mean ± sd). Dysglycaemia (prediabetes or diabetes), overweight/obesity (BMI ≥25 kg/m2 ) and metabolic syndrome were detected in 120 (58.9%), 123 (60.3%) and 98 spouses (48.3%) of women with hyperglycaemia in pregnancy, respectively. In the fully adjusted model, an increased risk of dysglycaemia [odds ratio 1.43 (95% CI 0.95-2.17); P = 0.088], overweight/obesity [odds ratio 1.49 (95% CI 0.98-2.27); P = 0.064] and metabolic syndrome [odds ratio 2.00 (95% CI 1.30-3.07); P = 0.001] was seen in the spouses of women with hyperglycaemia in pregnancy. The prevalence of these metabolic conditions was higher in spouses of women with diabetes in pregnancy compared to spouses of women with gestational diabetes mellitus. CONCLUSIONS: A high burden of cardiometabolic risk factors was observed in the spouses of women with hyperglycaemia in pregnancy. The opportunity provided by pregnancy could be used by the healthcare system not only to improve the health of the woman and her offspring, but also her spouse.


Asunto(s)
Diabetes Mellitus/epidemiología , Diabetes Gestacional/epidemiología , Síndrome Metabólico/epidemiología , Obesidad/epidemiología , Embarazo en Diabéticas/epidemiología , Esposos/estadística & datos numéricos , Adulto , Factores de Riesgo Cardiometabólico , Estudios Transversales , Femenino , Humanos , India/epidemiología , Sobrepeso/epidemiología , Estado Prediabético/epidemiología , Embarazo
16.
JDR Clin Trans Res ; 4(1): 86-95, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30931760

RESUMEN

BACKGROUND: Physicians' offices and emergency departments (EDs) are not suited for addressing nontraumatic dental conditions (NTDCs); however, significant numbers of people in Canada, including Ontario, visit such settings for their dental complaints. Also, people sometimes visit hospitals for day surgery to get their complicated dental conditions treated. This reflects the inefficient usage of the health care system and gaps in accessing timely dental care. METHODS: We assessed trends in the burden of NTDCs in Ontario by estimating the visits made for such conditions to physicians, EDs, and hospitals for day surgery. Aggregate data for years 2001 to 2015 were retrieved from Intellihealth Ontario. Descriptive analysis was conducted to calculate rates of visits as stratified by sex, age groups (0 to 6, 7 to 18, 19 to 64, and ≥65 y), and jurisdictions (public health unit level). RESULTS: On average, 70,274 visits to physicians, 51,861 to EDs, and 13,889 to hospital day surgery are made each year in Ontario for NTDCs, which costs approximately CAN$29 million. Children aged 0 to 6 y visit more than their counterparts. Statistically significant increasing trends for physician and ED visits were observed over the years. Analyses show large variations in rates of visits across public health units, with higher rates in rural communities. CONCLUSION: A large number of visits for NTDCs, with jurisdictional variations, were consistently made to nondental health care settings in Ontario over the last 15 y. Central- and local-level policy options for optimizing resources and health care system use are required. KNOWLEDGE TRANSFER STATEMENT: The findings of this study will provide oral and general health professionals a comprehensive understanding about the ineffective usage of a health care system for nontraumatic dental conditions. Quantifying the burden and associated dollars spent will promote crucial policy discussions to explore the possible options for providing emergency and essential dental services for all Canadians and possible equitable options to enhance access to dental care for vulnerable populations in Canadian society.


Asunto(s)
Enfermedades Estomatognáticas , Enfermedades Dentales , Niño , Preescolar , Atención Odontológica , Servicio de Urgencia en Hospital , Humanos , Lactante , Recién Nacido , Ontario
18.
Dis Esophagus ; 31(5)2018 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-29293978

RESUMEN

Longitudinal esophageal body shortening with swallow-induced peristalsis has been reported in healthy individuals. Esophageal shortening is immediately followed by esophageal re-elongation, and the lower esophageal sphincter (LES) returns to the baseline position. High-resolution manometry (HRM) allows for objective assessment of extent of shortening and duration of shortening. In patients without hiatal hernia at rest, swallow-induced esophageal shortening can lead to transient hiatal hernia (tHH) which at times may persist after the completion of swallow. This manometric finding has not been investigated in the literature, but a question arises whether this swallow-induced transient herniation can effect on the likelihood of gastroesophageal reflux. This study aims to assess the relationship between gastroesophageal reflux and the subtypes of swallow-induced esophageal shortening, i.e. tHH and non-tHH, in patients without hiatal hernia at rest. After Institutional Review Board (IRB) approval, we queried a prospectively maintained database to identify patients who underwent HRM evaluation and 24-hour pH study between January to December 2015. Patients with type-I esophagogastric junction (EGJ) morphology (i.e. no hiatal hernia) according to the Chicago classification v3.0 were included. The patterns of the esophageal shortening with swallows were divided into two subtypes, i.e. tHH and non-tHH. tHH was defined as an EGJ double high-pressure zones (≥1 cm) at the second inspiration after the termination of swallow-induced esophageal body contraction. The number of episodes of tHH was counted per 10 swallows and tHH size was measured for each patient. In total, 41 patients with EGJ morphology Type-I met the inclusion criteria. The mean age was 47.2 years, 35 patients (85.4%) were women, and the mean body mass index was 33.9 kg/m2. The mean number of tHH episodes was 3 out of 10 swallows; mean maximal tHH size was 1.3 cm. Patients who had tHH in ≥3 out of 10 swallows (n = 16; 39.0%) were more likely to have abnormal DeMeester scores than patients with <3 swallows (56% vs. 28%; P = 0.070). Patients with maximal tHH ≥2 cm in at least 1 swallow (n = 17; 41.5%) were more likely to experience pathological reflux than patients with maximal tHH <2 cm (59% vs. 25%; P = 0.029). In conclusion, we showed that, in a subset of patients with Type-I EGJ morphology, swallowing induced transient EGJ double high-pressure zones (≥1 cm) after peristalsis. We have named this new manometric finding the swallow-induced tHH. A high prevalence of pathological reflux disease was observed in patients with maximal tHH ≥2 cm. The degree of swallow-induced tHH could be an early indicator of lower esophageal sphincter dysfunction in patients without manometric hiatal hernia.


Asunto(s)
Deglución/fisiología , Esófago/fisiopatología , Reflujo Gastroesofágico/fisiopatología , Hernia Hiatal/fisiopatología , Trastornos de la Motilidad Esofágica/diagnóstico , Trastornos de la Motilidad Esofágica/fisiopatología , Esfínter Esofágico Inferior/fisiopatología , Monitorización del pH Esofágico , Unión Esofagogástrica/fisiopatología , Femenino , Reflujo Gastroesofágico/diagnóstico , Hernia Hiatal/diagnóstico , Humanos , Masculino , Manometría/métodos , Persona de Mediana Edad , Peristaltismo/fisiología , Estadística como Asunto
19.
Eye (Lond) ; 31(3): 475-480, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27858935

RESUMEN

PurposeAutosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian population in Singapore.Patients and methodsPreliminary cross-sectional study at the Singapore National Eye Centre, including patients with clinical suspicion of ADOA, who subsequently underwent genetic testing by direct sequencing of the OPA1 gene.ResultsAmong 12 patients (10 families) with clinically suspected ADOA, 7 patients (5 families) from 3 different ethnic origins (Chinese, Indian, and Malay) carried a heterozygous pathogenic variant in the OPA1 gene. The OPA1 mutations were located on exons 8, 9, 11, and 17: c.869G>A (p.Arg290Glu), c.892A>G (p.Ser298Gly), c.1140G>A (splicing mutation), and c.1669C>T (p.Arg557*), respectively. One splicing mutation (c.871-1G>A) was identified in intron 8. We also identified a novel mutation causing optic atrophy and deafness (c.892A>G (p.Ser298Gly)). Among the phenotypic features, colour pupillometry disclosed a dissociation between low vision and preserved pupillary light reflex in ADOA.ConclusionWe report the first cases of genetically confirmed OPA1-related ADOA from Singapore, including a novel mutation causing 'ADOA plus' syndrome. Further epidemiological studies are needed in order to determine the prevalence of ADOA in South-East Asia.


Asunto(s)
GTP Fosfohidrolasas/genética , Predisposición Genética a la Enfermedad , Mutación , Atrofia Óptica Autosómica Dominante/genética , Adulto , Anciano , Pueblo Asiatico , Estudios Transversales , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Persona de Mediana Edad , Atrofia Óptica Autosómica Dominante/etnología , Singapur , Agudeza Visual
20.
Dis Esophagus ; 30(6): 1-6, 2017 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-30052824

RESUMEN

We propose a new classification for esophagogastric junction (EGJ) incorporating both physiologic and morphologic characteristics. Additionally, we contrast it with the Chicago v 3.0 EGJ classification. With Institutional Review Board (IRB) approval, prospectively maintained database was queried to identify patients who underwent high-resolution manometry (HRM) and pH-study between October 2011 and October 2015. Patients with prior foregut intervention, pH study on acid suppression, esophageal dysmotility, or lower esophageal sphincter-crural diaphragm separation of >5 cm were excluded. We classified patients into three groups-Type-A: Complete overlap of lower esophageal sphincter-crural diaphragm (single high-pressure zone); Type-B: Double high-pressure zone with pressure inversion point (PIP) at or above lower esophageal sphincter; Type-C: Double high-pressure zone with PIP below lower esophageal sphincter. A total of 214 included patients were divided into Type-A (n = 101), Type-B (n = 32), and Type-C (n = 81). Abdominal lower esophageal sphincter length (AL), lower esophageal sphincter pressure (LESP), and lower esophageal sphincter pressure integral (LESPI) were significantly lower in Type-C than both Type-A and Type-B [AL(cm): 0.2 vs. 2(P < 0.001) vs. 1.6(P <0.001); LESP(mmHg): 20.1 vs. 32.1(P < 0.001) vs. 29.2(P < 0.001); LESPI(mmHg.cm.s): 187 vs. 412(P < 0.001) vs. 343(P < 0.05)] while overall lower esophageal sphincter length(OL) and Integrated Relaxation Pressure (IRP) were significantly lower in Type-C than Type-A [OL(cm): 2.9 vs. 3.6(P < 0.001); IRP(mmHg): 8.2 vs. 9.6(P < 0.05)]. Type-C patients had significantly higher positive pH score (>14.7) than Type-A and Type-B [72% vs. 47% (P < 0.05) vs. 41% (P < 0.001)]. In Type-C morphology, there is both anatomical and physiological deterioration, weakest lower esophageal sphincter function (abdominal length, lower esophageal sphincter pressure, and lower esophageal sphincter pressure integral) and is most likely to be associated with pathological reflux. This proposed classification incorporates both physiological and morphological derangements in a graded fashion.


Asunto(s)
Enfermedades del Esófago/clasificación , Unión Esofagogástrica/fisiología , Esófago/fisiología , Gastropatías/clasificación , Bases de Datos Factuales , Diafragma/fisiología , Enfermedades del Esófago/fisiopatología , Esfínter Esofágico Inferior/fisiología , Monitorización del pH Esofágico , Unión Esofagogástrica/anatomía & histología , Esófago/anatomía & histología , Femenino , Reflujo Gastroesofágico/clasificación , Reflujo Gastroesofágico/fisiopatología , Humanos , Masculino , Manometría/métodos , Persona de Mediana Edad , Estudios Prospectivos , Gastropatías/fisiopatología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...