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21.
SG Lindquist M Duno M Batbayli A Puschmann H Braendgaard S Mardosiene K Svenstrup LH Pinborg K Vestergaard LE Hjermind J Stokholm BB Andersen P Johannsen JE Nielsen 《Clinical genetics》2013,83(3):279-283
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene. 相似文献
22.
Asif Saifuddin Hassan Shafiq Ramanan Rajakulasingam Alan Tan Paul ODonnell Michael Khoo 《The British journal of radiology》2021,94(1118)
Objectives:To determine the incidence of pulmonary metastases on chest CT in trunk and extremity soft tissue sarcoma based on two size criteria, and to identify factors associated with metastases.Methods:Retrospective review of chest CT studies in patients with trunk and extremity soft tissue sarcoma over an 18-month period. Data collected included patient age/sex, tumour location, size and relationship to fascia. All chest CTs were reviewed for the presence of metastases which were diagnosed according to two size criteria: multiple nodules > 5 mm in size or multiple nodules > 10 mm in size. Follow-up CT studies were reviewed in cases initially considered indeterminate.Results:127 males and 73 females were included (mean age 57.1 years; range 10–90 years). 147 (73.5%) tumours were deep to the fascia and 53 (26.5%) superficial. Tumour size classified according to the 12 AJCC 2019 criteria was: T1 = 52, T2 = 76, T3 = 39, T4 = 33. Based on nodule size >5 mm, 73 (36.5%) patients had no metastases, 42 (21%) had metastases, while 85 (42.5%) studies were indeterminate. Based on nodule size >10 mm, 73 (36.5%) patients had no metastases, 28 (14%) had metastases, while 99 (49.5%) studies were indeterminate. Larger maximum dimension of the primary tumour was a risk factor for pulmonary metastases using both size criteria.Conclusion:The incidence of pulmonary metastases at presentation in trunk and extremity soft tissue sarcoma is 14–21%. 42.5–49.5% of chest CTs were indeterminate.Advances in knowledge:The incidence of pulmonary metastases at presentation in trunk and extremity soft tissue sarcoma is 14–21%. Indeterminate pulmonary nodules are also very common. 相似文献
23.
Ahmed Z Elmaadawi Peter S Jensen L Eugene Arnold Brooke SG Molina Lily Hechtman Howard B Abikoff Stephen P Hinshaw Jeffrey H Newcorn Laurence Lee Greenhill James M Swanson Cathryn A Galanter 《World Journal of Psychiatry》2015,5(4):412-424
AIM: To determine the prevalence of bipolar disorder (BD) and sub-threshold symptoms in
children with attention deficit hyperactivity disorder (ADHD) through 14 years’
follow-up, when participants were between 21-24 years old.METHODS: First, we examined rates of BD type I and II diagnoses in youth
participating in the NIMH-funded Multimodal Treatment Study of ADHD (MTA). We used the
diagnostic interview schedule for children (DISC), administered to both parents (DISC-P) and
youth (DISCY). We compared the MTA study subjects with ADHD (n = 579) to a
local normative comparison group (LNCG, n = 289) at 4 different assessment
points: 6, 8, 12, and 14 years of follow-ups. To evaluate the bipolar variants, we compared
total symptom counts (TSC) of DSM manic and hypomanic symptoms that were generated by DISC in
ADHD and LNCG subjects. Then we sub-divided the TSC into pathognomonic manic (PM) and
non-specific manic (NSM) symptoms. We compared the PM and NSM in ADHD and LNCG at each
assessment point and over time. We also evaluated the irritability as category A2 manic symptom
in both groups and over time. Finally, we studied the irritability symptom in correlation with
PM and NSM in ADHD and LNCG subjects.RESULTS: DISC-generated BD diagnosis did not differ significantly in rates between ADHD
(1.89%) and LNCG 1.38%). Interestingly, no participant met BD diagnosis more than once in the 4
assessment points in 14 years. However, on the symptom level, ADHD subjects reported
significantly higher mean TSC scores: ADHD 3.0; LNCG 1.7; P < 0.001. ADHD
status was associated with higher mean NSM: ADHD 2.0 vs LNCG 1.1;
P < 0.0001. Also, ADHD subjects had higher PM symptoms than LNCG, with PM
means over all time points of 1.3 ADHD; 0.9 LNCG; P = 0.0001. Examining both
NSM and PM, ADHD status associated with greater NSM than PM. However, Over 14 years, the NSM
symptoms declined and changed to PM over time (df 3, 2523; F = 20.1; P <
0.0001). Finally, Irritability (BD DSM criterion-A2) rates were significantly higher in ADHD
than LNCG (χ2 = 122.2, P < 0.0001), but irritability was
associated more strongly with NSM than PM (df 3, 2538; F = 43.2; P <
0.0001).CONCLUSION: Individuals with ADHD do not appear to be at significantly greater risk for
developing BD, but do show higher rates of BD symptoms, especially NSM. The greater linkage of
irritability to NSM than to PM suggests caution when making BD diagnoses based on irritability
alone as one of 2 (A-level) symptoms for BD diagnosis, particularly in view of its frequent
presentation with other psychopathologies. 相似文献
24.
Ramanan P Anyimadu H Batacchi Z Sivapalan V 《The American journal of the medical sciences》2012,343(4):330-331
The prevalence of endobronchial tuberculosis (EBTB) in patients with active tuberculosis is about 10% to 40%. The most common complication of EBTB is bronchial stenosis. Fistula formation by pulmonary tuberculosis is a very rare complication and is most commonly bronchopleural. The authors present a 53-year-old woman presented with chronic cough and abnormality in chest computed tomography scan. According to chest computed tomography scan finding, bronchoscopic study was done and bronchial lavage was obtained. Bronchial lavage was positive for acid fast bacilli. Bronchoscopy showed fistula formation between the right and left main bronchus, a rare manifestation of EBTB. The patient was treated with antituberculosis therapy, and her symptoms improved and radiological findings showed regression of pulmonary lesions. 相似文献
25.
PurposeTo evaluate the effect of Haishengsu (HSS), a protein extract from Tegillarca granosa, on multidrug-resistance genes mdr1, BCR/ABL and sorcin in transplanted tumors.Material/MethodsMice were inoculated subcutaneously with a drug resistant leukemia cell line K562/ADM. Tumor-bearing animals were divided into control, adriamycin, HSS and combination therapy (adriamycin plus HSS) groups. Flow cytometry was used to detect apoptosis of tumor cells, and RT-PCR was used to evaluate the expression of mdr1, BCR/ABL and sorcin.ResultsThe apoptosis rate in the high (71.8%), medium (72.3%) and low doses HSS group (72.4%) was higher than in control (1.2%, p<0.01), adriamycin (34.4%, p<0.05) or combination therapy group (46.4%, p<0.05). The mean optical density of mdr1, BCR/ABL and sorcin in HSS groups was lower than in control, adriamycin and combination therapy group (p<0.01). The optical density of the three genes in high HSS group was lower than in medium and low HSS group (p<0.01).ConclusionsHaishengsu promotes apoptosis of drug-resistant K562/ADM tumors in mice in a dose-dependent manner. The pro-apoptotic effect of Haishengsu may be related to a reduced expression of multidrug-resistance genes mdr1, BCR/ABL and sorcin. 相似文献
26.
Susmita Chatterjee Ramanan Laxminarayan Richard A. Gosselin 《World journal of surgery》2016,40(5):1034-1040
Backgrounds
Cost-effectiveness analysis plays an important role to guide resource allocation decisions, however, information on cost per disability-adjusted life year (DALY) averted by health facilities is not available in many developing economies, including India. We estimated cost per DALY averted for 2611 patients admitted for surgical interventions in a 106-bed private for-profit hospital in northern India.Methods
Costs were calculated using standard costing methods for the financial year 2012–2013, and effectiveness was measured in DALYs averted using risk of death/disability, effectiveness of treatment and disability weights from 2010 global burden of disease study.Results
During the study period, total operating cost of the hospital for treating surgical patients was USD 1,554,406 and the hospital averted 9401 DALYs resulting in a cost per DALY averted of USD 165.Conclusions
Even though this study was based on one hospital in India, however, the hospital is a private hospital which is expected to have less surgical case load compared to government health facilities, cost per DALY averted for the surgical interventions is much lower than the cost-effectiveness threshold for India (USD 1508 in 2012). This study therefore provides evidence to re-think the common notion that surgical care is expensive and therefore of lower value than other health interventions.27.
28.
29.
Antony George Attokaran FRACP FCICM Mahesh Ramanan MMed FCICM Lisa Hunt MBBS Kavita Chandra MBBS Rajbir Sandha FACEM Stacey Watts RN BN GC Balasubramanian Venkatesh MD FCICM FAHMS 《Emergency medicine Australasia : EMA》2023,35(4):657-663