tbuckley/cabot-search huggingface dataset:
X-Linked Cutis Laxa
Authors: Peter H. Byers, Robert C. Siegel, Karen A. Holbrook, A. Sampath Narayanan, Paul Bornstein, Judith G. Hall
Journal: New England Journal of Medicine (1980)

We studied several members of a family with an X-linked form of cutis laxa; the affected males have mild skin laxity, a characteristic facies, skeletal abnormalities, structural abnormalities of the genitourinary tract, and low serum copper levels. The activity of lysyl oxidase, a copper-dependent enzyme involved in cross-link formation in collagen, was decreased in skin-biopsy specimens (13 to 26 per cent of normal) and in culture medium from cells to two affected males (15 to 20 per cent of normal). Immunoreactive lysyl oxidase from skin of both patients was virtually undetectable by immunodiffusion assay. The amounts of lysyl-derived aldehydes (the product formed in collagen and elastin by lysyl oxidase) and of cross-links formed from these products were decreased in dermal fibroblasts in culture. Collagen extractability from these cells was increased in culture. These findings suggest that lysyl oxidase deficiency provides the biochemical basis of the X-linked form of cutis laxa.
Traitement par dissection sous-muqueuse endoscopique (ESD) des tumeurs superficielles du rectum: résultats préliminaires
Authors: B Hotayt, G Rahmi, S Chaussade, M Giovannini, D Coumaros, A Charachon, V Lepilliez, R Chollet, A Calazel, A Laquiere, C Cellier
Journal: Endoscopy (2011)

Introduction: L'ESD est un traitement endoscopique des tumeurs digestives superficielles qui permet d'avoir un taux d'exérèse monobloc important et un taux de récidive faible. Cette technique est en cours d'évaluation en France pour les lésions colorectales.
"We Need Help" -- Testimony at Hearing on Cancer and the Poor
Authors: C. K. Wittenberg
Journal: JNCI Journal of the National Cancer Institute (1989)

Journal Article “We Need Help” — Testimony at Hearing on Cancer and the Poor Get access Clarissa K. Wittenberg Clarissa K. Wittenberg Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 81, Issue 16, 16 August 1989, Pages 1207–1209, https://doi.org/10.1093/jnci/81.16.1207 Published: 16 August 1989
SAT0500 Frequency of MEFV Gene Mutation and Correlatin of MEVF Gene Mutation with Clinical Symptoms in Patients with Gout
Authors: A. Balkarlı, E. Tepeli, V. Çobankara
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Background</h3> Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric asid and monosodium urate crystals. IL – 1B is the most important cytokine in gout pathogenesis. Familial mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal resessive inheritance. <h3>Objectives</h3> MEFV gene mutation may contribute to gout pathogenesis with increased IL-1B activation. <h3>Methods</h3> Seventy one consecutive patients (age: 61.73±11.73, F/M: 14/57) with the diagnosis of gout disease and 50 sex and age matched (age 61.48±11.97, F/M: 10/40) healthy control were enrolled into the study. Patients who had chronic renal failure and who took inadequate medical treatment for gout were not included into the study. Patients with the diagnosis of FMF or who had FMF related symptoms were excluded from the study. A family history of FMF was another exclution criteria. FMF gene9s 2. and 10. line up was studied using genomic DNA isolated from both patients and healthy control group. <h3>Results</h3> MEFV gene mutations were detected in 24 (33,8%) gout patients and in 13 (26%) healthy control group. Although the frequency of MEFV gene mutations in patients group was higher than in healthy control group, the difference was not statistically important (p=0.473). The comparison of each mutation did not show any statistical important difference (p&gt;0.05). The second gouty arthritis attack occured in shorter time in patient with MEVF gene mutation than the patient without mutation. The difference was statistical signifant (P=0.014). Thrombocyte level was higher in patients with MEFV gene mutation (p=0.026). The number of patients having tophus was higher in patients with MEFV gene mutation (%8,5) than the patients without MEVF gene mutation (%1,4) (p=0.005). The frequency of acute gouty arthritis attack was higher in patients with MEVF mutation (p&lt;0.001). <h3>Conclusions</h3> Although there is not any increase in frequency of MEFV gene mutation in patients with gout but the presence of MEFV gene mutation may influence the clinical progress of gout. <h3>Disclosure of Interest</h3> None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.2095
An Incidental Finding of Cerebral Meningioma on 99mTc-TRODAT-1 Dopamine Transporter SPECT/CT
Authors: Yu-Li Chiu, Chin Hu, Jie-Yuan Li, Mei-Jui Weng, Wen-Chun Lin, Nan-Jing Peng
Journal: Clinical Nuclear Medicine (2012)

A 58-year-old woman presented with shuffling gait with small steps for 3 months. Tc-TRODAT-1 dopamine transporter SPECT/CT was prescribed to detect the function of the nigrostriatal system. It disclosed absence of uptake in the left putamen and diffusely decreased uptake in the right striatum. An unexpected mass with uneven uptake over the right frontal lobe was also noted. MRI demonstrated a large dura-related tumor, which was later proved as a meningioma after surgical intervention. Meningioma is the most common cause of tumor-induced parkinsonism. This case points to the significance of functional and structural fused neuroimaging in the evaluation of parkinsonism.
AB0680 Prevelance of mefv gene mutations in children with celiac disease
Authors: E. Comak, S. C. Dogan, A. Uslu Gokceoglu, I. Keser, R. Artan, A. Yilmaz, T. Bilgen, E. Sayar, A. İslek, M. Koyun, S. Akman
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> Celiac disease is an autoimmune enteropathy caused by permanent sensitivity to gluten in genetically susceptible individuals. Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever. A large number of diseases have been reported to be associated with MEFV mutations, many with a probable immunological pathogenesis. Familial Mediterranean Feverand celiac disease had some similar clinical features including abdominal pain, diarrhea, arthralgia, and arthritis. <h3>Objectives</h3> In this study, we aimed to determine whether there is any relationship between children with celiac disease and MEFV gene mutations. <h3>Methods</h3> Children who had fulfilled the criteria of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition for the diagnosis of celiac disease, were screened for the mutations in exon 2 and exon 10 of the MEFV gene. No children had any typical symptom of Familial Mediterranean Fever. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing. <h3>Results</h3> A total of 38 children, 22 girls (57.8 %), with a mean age of 9.44±4.58 years (2-17 years) were included. Five patients (13.15%) were heterozygous for MEFV gene, two of whom (5.3%) had p.M694Vmutation, one (%2.6) had p.E148Q mutation, one (%2.6) p.P646L mutation, and one (%2.6) p.V726A mutation. Only one patient (2.6%) was homozygous for MEFV gene (homozygous p.E148Q mutation). The allele frequency and carrier rate of MEFV mutations was found to be 9.2% and 15.8, respectively, which were similar to the general population (11% and 20%; p=0.75, p=0.83, respectively). <h3>Conclusions</h3> MEFV mutation frequency in patients with celiac disease was similar to the normal population in Turkey. We do not recommend screening for MEFV mutations in every patient with celiac disease even in countries where FMF is frequent. <h3>Disclosure of Interest</h3> None Declared
Preliminary report on the effects of totigestational exposure to ethchlorvynol.
Authors: M A Peters, P M Hudson
Journal: Environmental Health Perspectives (1977)

Ethchlorvynol, a sedative-hypnotic drug used clinically since 1955, has recently been the subject of renewed interest primarily because of its chemical relationship to vinyl chloride. In our totigestational studies, sperm-positive female rats were given a daily dose of ethchlorvynol dissolved in olive oil for 21 consecutive days. The dams were allowed to deliver and their offspring were observed for alterations in development by monitoring a number of gross behavioral, histological and biochemical parameters at newborn, weanling, puberty, adult and geriatric stages. Gross development appeared normal at time of weaning: however, offspring of treated dams showed increased behavioral activity in addition to alterations in a number of clinical chemistry parameters. The dose-response seen with most of the parameters suggests that the changes are drug related. However, the clinical pathological significance has not been ascertained.
Uptake of carotid artery stenting in England and subsequent vascular admissions: An appropriate response to emerging evidence?
Authors: Angeline Hwee Yin Lee, John Busby, Marcus J. Brooks, William Hollingworth
Journal: International Journal of Surgery (2013)

Objective  We report the uptake, length of stay and vascular readmission rates of carotid endarterectomy (CEA) and CAS among patients with symptomatic or asymptomatic carotid artery disease in the English National Health Service (NHS).    Methods  Retrospective cohort study based on routinely collected Hospital Episode Statistics (HES) inpatient data. We identified individual admissions for CEA ( n  = 15996) or CAS ( n  = 632) between 2006 and 2009. Summary data were used to describe procedure volumes between 2009 and 2012. We analysed trends in procedure use over time and used ordinary least squares regression to evaluate patient, clinical and organisational characteristics associated with longer length of stay for revascularisation.    Results  CAS made up less than 5% of carotid revascularisation procedures; there was no trend for increasing use between 2006 and 2012. Patients treated with CAS were on average younger, lived in areas of higher deprivation and were more likely to have amaurosis fugax or a comorbidity of heart disease. CAS patients had a 19% (95% CI 14–24) shorter stay in hospital than CEA patients.    Conclusion  Despite the early promise of CAS and numerous randomised controlled trials evaluating efficacy, it has not been rapidly adopted in England. Cautious adoption may be appropriate given the higher periprocedural risk of stroke or death after CAS, particularly in recently symptomatic patients.
Abstract 2120: Hepatitis B virus X protein interacts with PARP1 that inhibits DNA repair
Authors: Tae Young Na, Mi Ock Lee
Journal: Cancer Research (2012)

Abstract Hepatitis B virus (HBV) is strongly associated with the development of hepatocellular carcinoma (HCC). Among the HBV viral proteins, X protein (HBx) is regarded as a major risk factor of HCC. HBx contributes to HCC development through regulating expression of many host or viral genes and interacting with other cellular proteins. In this study, proteins that interact with HBx were analyzed by immunoprecipitation and subsequent LC/MS/MS. We identified 60 HBx interacting proteins that function in a wide spectrum of biology. Among these proteins, we were interested in PARP1, Poly (ADP-ribose) polymerase, a crucial factor in base excision repair (BER) pathway, since HBx was known to inhibit DNA repair capacity in cancer cells. Therefore, we characterized the cross-talk between HBx and PARP-1. HBx and PARP-1 colocalized in the nucleus and they are physically associated. Coimmunoprecipitation experiments revealed that the catalytic domain of PARP-1 bound to HBx. Chromatin immunoprecipitation showed that HBx inhibited the recruitment of DNA damage induced by paraquat treatment. HBx overexpression significantly inhibited the protein expression of the DNA damage response factors that respond to the paraquat-induced oxidative stress. Finally, HBx further enhanced the level of 8-OHdG, the marker of DNA damage, under oxidative stress. Together, these data suggest that the interaction between HBx and PARP1 inhibits DNA repair, which could result in onset of hepatocarcinogenesis. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 2120. doi:1538-7445.AM2012-2120
Plasma Glucose Concentrations at the Onset of Hypoglycemic Symptoms in Patients with Poorly Controlled Diabetes and in Nondiabetics
Authors: P J Boyle, N S Schwartz, S D Shah, W E Clutter, P E Cryer
Journal: New England Journal of Medicine (1988)

We tested the hypothesis that during decrements in plasma glucose concentration, symptoms of hypoglycemia may occur at higher glucose concentrations in patients with poorly controlled insulin-dependent diabetes mellitus than in persons without diabetes. Symptoms of hypoglycemia and counterregulatory neuroendocrine responses were quantified during hypoglycemic and euglycemic clamp studies in eight patients with insulin-dependent diabetes mellitus selected because their hemoglobin A1 levels were above 10 percent. These data were compared with similar observations in 10 nondiabetic subjects studied previously. Glycemic thresholds--the plasma glucose concentrations during each hypoglycemic clamp study at which a given symptom or biochemical measurement first exceeded its 95 percent confidence interval determined in the euglycemic clamp studies--were calculated for each variable. The mean (+/- SE) glycemic threshold for the symptoms of hypoglycemia was 4.3 +/- 0.3 mmol per liter (78 +/- 5 mg per deciliter) in patients with poorly controlled diabetes--significantly higher (P less than 0.001) than the value of 2.9 +/- 0.1 mmol per liter (53 +/- 2 mg per deciliter) in subjects without diabetes. The mean glycemic thresholds for growth hormone, epinephrine, and cortisol secretions were not significantly different in the two groups. Thus, during decreases in the plasma glucose concentration, patients with poorly controlled insulin-dependent diabetes mellitus may experience symptoms of hypoglycemia at higher plasma glucose concentrations than persons without diabetes. The mechanism underlying this observation remains to be defined.
PREDICTION OF CLINICAL OUTCOME IN PATIENTS WITH PERICARDIAL EFFUSION AND MALIGNANCIES: STRATIFIED BY POST-PERICARDIOCENTESIS CONSTRICTIVE PHYSIOLOGY
Authors: In-Jeong Cho, Hyuk-Jae Chang, Hyemoon Chung, Chi Young Shim, Geu-Ru Hong, Jong-Won Ha, Namsik Chung
Journal: Journal of the American College of Cardiology (2015)
DOES LATERALITY EXIST DURING SIDE STEP CUTTING MANEUVER?
Authors: Y Urabe, K Some, I Syo, S Jynpei, M Noriaki, F Eri, M Nobuaki, Y Takahiko, S Hiroshi
Journal: British Journal of Sports Medicine (2014)

Background Anterior cruciate ligament (ACL) injuries occur in left leg more frequently than in right legs, but the cause for this observation is not clear. So, it is interesting to analyze the difference of causes of ACL injury between both legs. Objective To compare the difference of left and right knee joint kinematics during a 90°direction side step cutting (SSC) maneuver. The hypothesis was that smaller maximum knee flexion and larger knee valgus in left knee. Design Repeated measures design. Setting Laboratory setting. Subjects Included were 14 female collegiate basketball athletes with no orthopaedic diagnosis in the lower extremities. Their average age, height, weight and length of career as basketball athletes were 21.0 years, 160.1 cm, 54.5 kg, and 6.2 years, respectively. This study was approved by the institutional review board. Inteventions All subjects were right dominant and kicked the ball with their right legs. Main outcome measurements Motion of each subject during 90° SSC was recorded by a 6 high-speed (200 frames/s) CCD camera system (Ditect, Japan) and 3D analyzed with knee kinematics. Each subject performed 5 trials after sufficient practice, and the average of knee joint angle displacements were calculated. The power for each analysis of variance was not less than 0.75 if the effect size was more than 0.80. Results The result showed a bimodal curve of peak knee valgus in both knees. Maximum flexion occurred at stop phase after initial contact of the subjects' leg on floor, and maximum valgus occurred almost simultaneously. There was no significant difference of angular displacement between both knees. However, there was a tendency that smaller maximum flexion and larger valgus were observed in left knee compared with right. Conclusions Although there was no significant differences between right and left leg, small flexion and large valgus angle were observed in left knee.
728 PROGNOSTIC RELEVANCE OF MALLORY-DENK BODIES AND INTRACELLULAR HYALINE BODIES IN HEPATOCELLULAR CARCINOMA
Authors: A. Aigelsreiter, J. Neumann, M. Pichler, J. Halasz, K. Zatloukal, A. Berghold, E. Lederer, J. Haybaeck, H. Denk, C. Lackner
Journal: Journal of Hepatology (2012)
SPECT- and PET-Based Patient-Tailored Treatment in Neuroendocrine Tumors
Authors: R.A. Werner, Christina Bluemel, M. Lassmann, T. Kudlich, T. Higuchi, Egesta Lopci, M. Allen-Auerbach, Patrick M. Colletti, Domenico Rubello, M.C. Zatelli, Ken Herrmann
Journal: Clinical Nuclear Medicine (2015)

The overexpression of somatostatin receptors on the tumor cell surface of neuroendocrine tumors (NETs) detected by multimodal functional imaging modalities such as SPECT and PET tracers constitutes a therapeutic option using targeting radiolabeled compounds. We will introduce the theranostic concept in general, explain in more detail its development in NETs, and discuss available SPECT and PET tracers regarding their potential for diagnostic imaging, visualization of target expression, and treatment tailoring. Moreover, we will discuss the currently available peptide receptor radionuclide therapy principles and compare them to previously published studies. Finally, we will discuss which new concepts will most likely influence the theranostic treatment approach in NETs in the future.
Renal Cell Carcinoma Presenting as Isolated Deltoid Muscle Metastasis 12 Years After Radical Nephrectomy Detected on 18F-FDG PET/CT
Authors: Amit Bhoil, Bhagwant Rai Mittal, Anish Bhattacharya, Swapnil Rane, Raje Nijhawan, Vikas Gupta
Journal: Clinical Nuclear Medicine (2013)

We report a case of renal cell carcinoma detected to have isolated deltoid metastasis on 18F-FDG PET/CT 12 years after radical nephrectomy. Isolate muscle (deltoid) metastasis from renal cell carcinoma has not been reported in the literature.
Abstract 5032: New insights of miR-221 and miR-222 cluster functions in Burkitt lymphoma.
Authors: Jessica Consiglio, Luciana De Luca, Mario Acunzo, Marco Galasso, Alberto Rocci, Maria-Rosaria Sapienza, Pier Paolo Piccaluga, Andrea Vecchione, Nicola Zanesi, Stefano Volinia, Carlo Maria Croce, Flavia Pichiorri
Journal: Cancer Research (2012)

Abstract Burkitt lymphoma (BL) is a mature aggressive B-cell neoplasm, with a characteristic clinical presentation, morphology and immunophenotype. Several studies have indicated the importance of miRNAs in B cell maturation and in the development of B cell lymphomas. MicroRNAs (miRNA) are a class of naturally occurring, small, non-coding RNA that can control gene expression by targeting mRNA molecules for translational repression or cleavage. They are usually expressed in a tissue-specific manner and play important roles in apoptosis, differentiation and cell proliferation; therefore their deregulation may be involved in carcinogenesis or tumor progression by altering normal gene expression patterns. Over the past years microRNAs signatures have been described to characterize and classify different types of BL or to investigate the expression of miRNAs possibly regulated by c-Myc in BL cases positive or negative for Myc traslocation. Howhever, it remained unclear the functional role of miRNAs that have been found differentially expressed and no further studies have been conducted. We performed miRNA expression profile to gain further insights into the molecular pathology of BL. We conducted array analysis on a set of 5 sporadic BL patients, 3 endemic BL patients, 9 reactive tissues and 11 cases of mononucleosis. A common trend of miRNAs altered expression was also observed by NanoString analysis in 10 BL cell lines compared to 5 normal CD-19+ B cells. Among several miRNAs previously described be deregulated in BL we identified a severe down-regulation of miR-221, miR-222 in all classes of comparisons we analyzed. The down-regulation of miR-221 and miR-222 associated to BL has been also confirmed by q-RT-PCR method in a different cohort of BL patients (20) compared to the healthy controls (6). When miR-221 and miR-222 expressions have been restored in BL cancer cell lines, lacking of their expression, by gene expression profile we identified the differentially expression of several genes involved in ncRNAs processing, ncRNA metabolic process and also in the regulation of cell differentiation and cell cycle. Furthermore, functional experiments identified many of these genes as new direct targets of miR-221 and miR-222. In conclusion, our study reveals new insights into the functional significance in loss of miR-221 and miR-222 expression in BL pathogenesis. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 5032. doi:1538-7445.AM2012-5032
SIMPLE ELECTROCARDIOGRAPHIC CRITERIA FOR DISCRIMINATING BETWEEN ACUTE PULMONARY EMBOLISM AND ACUTE CORONARY SYNDROME
Authors: Masami Kosuge, Toshiaki Ebina, Kiyoshi Hibi, Kengo Tsukahara, Noriaki Iwahashi, Nobuhiko Maejima, Eiichi Akiyama, Satoshi Umemura, Kazuo Kimura
Journal: Journal of the American College of Cardiology (2016)