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Stavros M Stivaros Robert Alston Neville B Wright Kate Chandler Denise Bonney Robert F Wynn Andrew M Will Maqsood Punekar Sean Loughran John-Paul Kilday Detlev Schindler Leena Patel Stefan Meyer 《The British journal of radiology》2015,88(1056)
Objective:
Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features.Methods:
A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched controls were determined.Results:
Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy–Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation of the corpus callosum (CC).Conclusion:
The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making.Advances in knowledge:
The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. 相似文献64.
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Lopman B Vennema H Kohli E Pothier P Sanchez A Negredo A Buesa J Schreier E Reacher M Brown D Gray J Iturriza M Gallimore C Bottiger B Hedlund KO Torvén M von Bonsdorff CH Maunula L Poljsak-Prijatelj M Zimsek J Reuter G Szücs G Melegh B Svennson L van Duijnhoven Y Koopmans M 《Lancet》2004,363(9410):682-688
66.
Kaukinen K Halme L Collin P Färkkilä M Mäki M Vehmanen P Partanen J Höckerstedt K 《Gastroenterology》2002,122(4):881-888
BACKGROUND & AIMS: Mild liver abnormalities are common in patients with celiac disease and usually resolve with a gluten-free diet. We investigated the occurrence of celiac disease in patients with severe liver failure. METHODS: Four patients with untreated celiac disease and severe liver disease are described. Further, the occurrence of celiac disease was studied in 185 adults with previous liver transplantation using serum immunoglobulin A endomysial and tissue transglutaminase antibodies in screening. RESULTS: Of the 4 patients with severe liver disease and celiac disease, 1 had congenital liver fibrosis, 1 had massive hepatic steatosis, and 2 had progressive hepatitis without apparent origin. Three were even remitted for consideration of liver transplantation. Hepatic dysfunction reversed in all cases when a gluten-free diet was adopted. In the transplantation group, 8 patients (4.3%) had celiac disease. Six cases were detected before the operation: 3 had primary biliary cirrhosis, 1 had autoimmune hepatitis, 1 had primary sclerosing cholangitis, and 1 had congenital liver fibrosis. Only 1 patient had maintained a long-term strict gluten-free diet. Screening found 2 cases of celiac disease, 1 with autoimmune hepatitis and 1 with secondary sclerosing cholangitis. CONCLUSIONS: The possible presence of celiac disease should be investigated in patients with severe liver disease. Dietary treatment may prevent progression to hepatic failure, even in cases in which liver transplantation is considered. 相似文献
67.
Nooraldaem Yousif Suddharsan Subbramaniyam Babu Thevan Mohammad Amin Leena Sulaibikh Nazar Bukamal Habib Tareif Sadananda Shivappa Haitham Amin Husam A. Noor 《Journal of the Saudi Heart Association》2020,32(3):434
BACKGROUNDTranscatheter aortic valve implantation (TAVI) is a minimally invasive procedure that is considered a good alternative to surgical aortic valve replacement (sAVR) in selected patients. Our aim is to determine the baseline, procedural characteristics and one-year clinical outcomes of our TAVI registry.METHODSThis study is a retrospective observational analysis of a prospectively designed cohort comprising 81 consecutive patients treated at Mohammed bin Khalifa Cardiac Centre (MKCC) who were enrolled in Bahrain TAVI registry from February 2014 to February 2019. The clinical endpoints were defined according to the updated Valve Academic Research Consortium-2 (VARC-2) consensus document.RESULTSOut of the 81 patients included in our study, there were 37 (45.7%) males. The mean age was 76.4 ± 8.9 years with a mean Logistic European System for Cardiac Operative Risk Evaluation (EuroSCORE II) of 4.1 ± 2.5 and a mean Society of Thoracic Surgery (STS) Risk Score of 4.2 ± 3.5. Evolute-R valve was used for 36 (44.4%) patients, Edward Sapien for 26 patients (32.1%), and Core valve for 19 patients (23.5%). At one year follow up, all-cause death was reported in three (3.7%) patients; none of them was cardiovascular mortality. As per VARC-II criteria, no cases fulfilled the criteria of valve dysfunction but TAVI-related complications (i.e., TAV-in-TAV deployment) were reported in four (4.9%) cases. One (1.2%) case of major bleeding was encountered but no patient experienced life-threatening bleeding. Major vascular complications were documented in two patients (2.5%) only. Significant Acute Kidney Injury (AKI) occurred in two (2.5%) patients, both classified as stage-2 but no one deteriorated to stage-3 or hemodialysis. Seven (8.6%) patients required permanent pacemakers, and all were implanted during the index admission for TAVI. One patient (1.2%) had stroke and all survivors completed one-year follow up.CONCLUSIONThe TAVI program in Bahrain is encouraging and corresponds to the finest international centers outcomes in terms of procedural success and complications rate. 相似文献
68.
Antigen-presenting cell (APC) plasticity is critical for controlling inflammation in metabolic diseases and infections. The roles that pattern recognition receptors (PRRs) play in regulating APC phenotypes are just now being defined. We evaluated the expression of PRRs on APCs in mice infected with the helminth parasite Schistosoma mansoni and observed an upregulation of CD14 expression on macrophages. Schistosome-infected Cd14−/− mice showed significantly increased alternative activation of (M2) macrophages in the livers compared to infected wild-type (wt) mice. In addition, splenocytes from infected Cd14−/− mice exhibited increased production of CD4+-specific interleukin-4 (IL-4), IL-5, and IL-13 and CD4+Foxp3+IL-10+ regulatory T cells compared to cells from infected wt mice. S. mansoni-infected Cd14−/− mice also presented with smaller liver egg granulomas associated with increased collagen deposition compared to granulomas in infected wt mice. The highest expression of CD14 was found on liver macrophages in infected mice. To determine if the Cd14−/− phenotype was in part due to increased M2 macrophages, we adoptively transferred wt macrophages into Cd14−/− mice and normalized the M2 and CD4+ Th cell balance close to that observed in infected wt mice. Finally, we demonstrated that CD14 regulates STAT6 activation, as Cd14−/− mice had increased STAT6 activation in vivo, suggesting that lack of CD14 impacts the IL-4Rα-STAT6 pathway, altering macrophage polarization during parasite infection. Collectively, these data identify a previously unrecognized role for CD14 in regulating macrophage plasticity and CD4+ T cell biasing during helminth infection. 相似文献
69.
Babu George M. S. Razeena Padmam M. K. C. Nair M. L. Leena Paul Swamidhas Sudhakar Russell 《Indian journal of pediatrics》2014,81(2):133-137
Objectives
To compare antenatal, natal and postnatal factors among children between 2–6 y of age with autism and a control group of normal children.Methods
One hundred and forty three confirmed cases of 2–6 y-old children with autism, attending autism clinic of Child Development Centre, who had a CARS score of ≥?30 were included in the study. Two hundred normal children in the same age group were recruited from the well-baby/immunization clinic of SAT Hospital, Thiruvananthapuram. Data was collected using a structured pre-piloted questionnaire consisting of 21 antenatal, 8 natal and 6 postnatal risk factors.Results
The multivariate analysis on antenatal, natal and postnatal possible risk factors for autism showed statistically significant high odds ratios for (i) excess fetal movement (OR?=?11.44; 95 % CI: 2.85 – 45.98); (ii) maternal respiratory infection/asthma (OR?=?6.11; 95 % CI: 1.56–24.02; (iii) maternal vaginal infection (OR?=?5.20; 95 % CI: 1.72 – 15.73); (iv) maternal hypothyroidism (OR?=?4.25; 95 % CI: 1.38–13.07) and (v) family history of neuro-developmental disorders (OR?=?2.90; 95 % CI: 1.72 – 4.88).Conclusions
This case control study involving 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children has shown that excess fetal movement, maternal respiratory infection/asthma, maternal vaginal infection, maternal hypothyroidism and family history of neuro-developmental disorders are possible risk factors for autism.70.
M. K. C. Nair M. A. Lakshmi S. Latha Geetha Lakshmi G. S. Harikumaran Nair Deepa Bhaskaran Babu George M. L. Leena Paul Swamidhas Sudhakar Russell 《Indian journal of pediatrics》2014,81(2):142-150