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1.
Exhaled nitric oxide in children with allergic rhinitis: A potential biomarker of asthma development
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William R. C. Knight Cara R. Baker Nyree Griffin Wahyu Wulaningsih Mark Kelly Andrew R. Davies James A. Gossage 《British journal of cancer》2021,124(10):1653
Background A high Mandard score implies a non-response to chemotherapy in oesophageal adenocarcinoma. However, some patients exhibit tumour volume reduction and a nodal response despite a high score. This study examines survival and recurrence patterns in these patients.Methods Clinicopathological factors were analysed using multivariable Cox regression assessing time to death and recurrence. Computed tomography-estimated tumour volume change was examined in a subgroup of consecutive patients.Results Five hundred and fifty-five patients were included. Median survival was 55 months (Mandard 1–3) and 21 months (Mandard 4 and 5). In the Mandard 4 and 5 group (332 patients), comparison between complete nodal responders and persistent nodal disease showed improved survival (90 vs 18 months), recurrence rates (locoregional 14.75 vs 28.74%, systemic 24.59 vs 48.42%) and circumferential resection margin positivity (22.95 vs 68.11%). Complete nodal response independently predicted improved survival (hazard ratio 0.34 (0.16–0.74). Post-chemotherapy tumour volume reduction was greater in patients with a complete nodal response (−16.3 vs −7.7 cm3, p = 0.033) with no significant difference between Mandard groups.Conclusion Patients with a complete nodal response to chemotherapy have significantly improved outcomes despite a poor Mandard score. High Mandard score does not correspond with a non-response to chemotherapy in all cases and patients with nodal downstaging may still benefit from adjuvant chemotherapy.Subject terms: Oesophageal cancer, Surgical oncology 相似文献
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Josh Greenstein Devjani Das Josie Acuna Monica Kapoor Cara Brown Abbas Husain Brendan Lally Barry Hahn 《The American journal of emergency medicine》2019,37(2):313-316
Background
In the emergency department, rib fractures are a common finding in patients who sustain chest trauma. Rib fractures may be a sign of significant, underlying pathology, especially in the elderly patients where rib fractures are associated with significant morbidity and mortality. To date, no studies have evaluated the ability of ultrasound to detect rib fractures using cadaver models and subsequently use this model as a teaching tool.Objectives
The purpose of this study was to determine if it is possible to generate rib fractures on cadaver models which could be accurately identified using ultrasound.Methods
This was a cross-sectional study performed during one session at a cadaver lab. A single hemithorax from four adult cadavers were used as models. Single rib fractures on each of rib five through eight were created. Four subjects, blinded to the normal versus fractured ribs, were asked to identify the presence of a fracture on each rib.Results
A total of 8 of 16 potential ribs had fractured induced by study staff. Mean accuracy was 55% for all subjects. The overall sensitivity and specificity for detecting rib fractures was 50% (CI: 31.89–68.11) and 59.38% (CI: 35.69–73.55) respectively. The overall PPV and NPV was 55.17% and 54.29% respectively.Conclusions
In this pilot study, subjects were not able to detect induced rib fractures using ultrasound on cadaver models. The use of this model as a teaching tool in the detection of rib fractures requires further investigation. 相似文献5.
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M A López Cara P J Tárraga López M Cerdán Oliver J M Oca?a López A Celada Rodríguez J Solera Albero M A Palomino Medina 《Revista española de enfermedades digestivas》2006,98(6):449-459
OBJECTIVE: To Determine the incidence of constipation in Albacete province and its relation with diet and lifestyle. PATIENTS AND METHODS: Cross-sectional population survey. We studied 414 participants over 50 years of age in Albacete province. 445 persons over 50 years of age were included in the study. All participants were selected by systematic random sampling; 414 participants filled in the questionnaire correctly. Main measures: age, weight and height, marital status, level of education and occupation; presence of a disease, number of sleep hours a day, physical exercise, smoking, alcohol intake, drug intake (anti-inflammatories and laxatives); bowel habit, diet, meal frequency and place; food intake frequency per week, daily intake of water, coffee, tea and herbal beverages; vitamin and fiber supplements; presence of cancer in the family. RESULTS: 56.9% of participants were women. Mean age 67.07 years. In Albacete province, 4.4% of the population over 50 years have a bowel habit consistent with constipation. Most participants had three meals a day (breakfast, lunch, and supper), while 50% had another meal in the morning or afternoon. These meals took place, habitually, in the domicile. There was a preponderance in daily intake of the following foods: milk (83.7%), bread (95.1%), vegetables (68.8%), fruit (91.8%), and virgin olive oil (96.6%). Fish was eaten every one to two days, and pulses and meat every three to six days. 44.4% of participants drank one to two liters of water a day. Only 3.9% of participants took some supplement; 35% of participants were on a diet. It was observed that 97.7% of participants with more than three defecations a week had a high intake of virgin olive oil; 65.7% of participants did some physical exercise customarily; 70.2% of participants were non-smokers, 10.2% were smokers, and 18.4% were ex-smokers. With regard to alcohol, the percentage of drinkers was 35.1%. The main class of medications taken by participants was NSAIDs - 14.5%; 79.7% took neither NSAIDs nor laxatives. Only 2.7% of participants took laxatives regularly. CONCLUSIONS: Most participants had relatively healthy eating habits. 相似文献
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Kerry E. Goetz Melissa J. Reeves Shaina Gagadam Delphine Blain Chelsea Bender Cara Lwin Amelia Naik Santa J. Tumminia Robert B. Hufnagel 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(3):828-837
Genetic testing in a multisite clinical trial network for inherited eye conditions is described in this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants in eyeGENE were enrolled through a network of clinical providers throughout the United States and Canada. Blood samples and clinical data were collected to establish a phenotype:genotype database, biorepository, and patient registry. Data and samples are available for research use, and participants are provided results of clinical genetic testing. eyeGENE utilized a unique, distributed clinical trial design to enroll 6,403 participants from 5,385 families diagnosed with over 30 different inherited eye conditions. The most common diagnoses given for participants were retinitis pigmentosa (RP), Stargardt disease, and choroideremia. Pathogenic variants were most frequently reported in ABCA4 (37%), USH2A (7%), RPGR (6%), CHM (5%), and PRPH2 (3%). Among the 5,552 participants with genetic testing, at least one pathogenic or likely pathogenic variant was observed in 3,448 participants (62.1%), and variants of uncertain significance in 1,712 participants (30.8%). Ten genes represent 68% of all pathogenic and likely pathogenic variants in eyeGENE. Cross‐referencing current gene therapy clinical trials, over a thousand participants may be eligible, based on pathogenic variants in genes targeted by those therapies. This article is the first summary of genetic testing from thousands of participants tested through eyeGENE, including reports from 5,552 individuals. eyeGENE provides a launching point for inherited eye research, connects researchers with potential future study participants, and provides a valuable resource to the vision community. 相似文献
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Marianna Farnè Giovanna M. Tedesco Chiara Bedetti Amedea Mencarelli Daniela Rogaia Davide Colavito Giuseppe Di Cara Gabriela Stangoni Stefania Troiani Alessandra Ferlini Paolo Prontera 《American journal of medical genetics. Part A》2020,182(10):2377-2383
Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5‐year‐old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole‐exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen‐magnetic resonance spectroscopy (H‐MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7‐related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth. 相似文献
10.
We present 3 adults with cardiac rhabdomyomas, 2 in the atria and 1 in the right ventricle. One atrial tumor was discovered incidentally, and 1 resulted in supraventricular tachycardia. The ventricular lesion caused ventricular tachycardia. Compared with congenital rhabdomyomas, the tumors are relatively cellular, the cells are smaller, there are few spider cells, and there is evidence of cell proliferation. Two of the 3 tumors demonstrated spindling in contrast to adult rhabdomyomas of the head and neck. Although surgical excision was possible in all patients, long-term follow-up will be required to determine the true biologic behavior of these neoplasms. 相似文献