tbuckley/cabot-search huggingface dataset:
Prenatal Test for X-Linked Severe Combined Immunodeficiency by Analysis of Maternal X-Chromosome Inactivation and Linkage Analysis
Authors: Jennifer M. Puck, Celeste M. Krauss, Stirling M. Puck, Rebecca H. Buckley, Mary Ellen Conley
Journal: New England Journal of Medicine (1990)

SEVERE combined immunodeficiency (SCID) is a syndrome that includes a spectrum of X-linked and autosomal genetic defects affecting both cellular and humoral immunity.1 Affected persons have severe and persistent infections in infancy, leading to failure to thrive and early death. Patients with SCID have decreased numbers of T cells, an absence of proliferative responses to mitogens, and hypogammaglobulinemia, although B cells may be present in normal or increased numbers. The causes of a small proportion of cases of autosomally inherited SCID have been defined and have included deficiencies of the enzymes adenosine deaminase and purine nucleoside phosphorylase2 and of a . . .
Salivary gland choriostoma in the esophagus
Authors: Changqing Wang, Ling Chen, Weiwei Guo, Xiaojuan Zhu, Zheng Liu
Journal: Endoscopy (2014)

Salivary gland choriostoma is defined as a tumor-like growth of otherwise normal salivary gland found in an abnormal location. It has been reported in the head and neck regions but there are very few reports of its presence in the gastrointestinal tract [1] [2]. To our knowledge, it has been reported in the jejunal [3], sigmoid colon [4], rectal [5] [6], and perianal regions [7], but there is no report in the English literature of its presence in the esophagus. We report a unique case of esophageal mucosal salivary gland choriostoma in a 60-year-old man who underwent esophagogastroduodenoscopy for belch, regurgitation, and abdominal pain, and was treated by endoscopic resection.
Abstract LB-472: p63 inhibits epithelial - mesenchymal transition by promoting the expression of miR205 in human bladder cancer cells
Authors: Mai N. Tran, Woonyoung Choi, Neema Navai, Matthew F. Wszolek, I-ling C. Lee, Arlene O. Siefker-Radtke, David J. McConkey
Journal: Cancer Research (2012)

Abstract Epithelial - mesenchymal transition (EMT) is a physiological process in normal tissue development and wound healing that has been shown to play important roles in tumor metastasis, “stemness,” and drug resistance. Therefore, it is critical to understand the molecular mechanisms that control EMT. EMT is typically characterized by the loss of the epithelial marker E-cadherin and gain of the transcriptional repressors of E-cadherin (Zeb1, Zeb2, Twist, SnaiI, and Slug). MicroRNAs belonging to the mir200 family and miR205 are involved in EMT through suppression of Zeb1 and Zeb2. Recently, p53 has been demonstrated to regulate EMT by transcriptionally activating the microRNA mir-200c, which in turn suppresses Zeb1; however, the mechanisms controlling miR205 remain elusive. We noticed that expression of the p53 homologue p63 correlates with the expression of E-cadherin in bladder cancer cell lines, suggesting that p63 might participate in regulating EMT. Consistent with this idea, expression of p63 and miR205 are strongly correlated with each other in a large panel of bladder cancer cell lines. Interestingly, stably knocking down (KD) p63 in two epithelial cell lines (UM-UC6 and UM-UC14) repressed the expression of miR205. Consistent with the role of miR205 in suppressing Zeb1, p63 knockdown resulted in increased expression of Zeb1 in the UM-UC6 cells, and this effect was reversed by expression of exogenous miR205. p63 knockdown reduced both the primary and mature forms of miR205, suggesting that p63 might transcriptionally activate miR205 gene expression. Intriguingly, chromatin immunoprecipitation (ChIP) revealed that p63 binds to a putative regulatory region of miR205 in UM-UC6 and UM-UC14. Furthermore, the acetylated histone H3 mark (indicative of active/open chromatin) was enriched in the region encompassing the p63 binding site. Together, our data identifies p63 as an important repressor of EMT via its ability to promote expression of miR205, which represses Zeb1 expression. 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 LB-472. doi:1538-7445.AM2012-LB-472
STUDIES IN HUMAN ECOLOGY
Authors: LAWRENCE E. HINKLE, NORMAN PLUMMER, RHODA METRAUX, PETER RICHTER, JOHN W. GITTINGER, WILLIAM N. THETFORD, ADRIAN M. OSTFELD, FRANCIS D. KANE, LEO GOLDBERGER, WILLIAM E. MITCHELL, HOPE LEICHTER, RUTH PINSKY, DAVID GOEBEL, IRWIN D. J. BROSS, HAROLD G. WOLFF
Journal: American Journal of Psychiatry (1957)

Our inferences from our studies are these: man's relation to his social environment as perceived by him has a profound effect upon his general health. It influences the development and progression of all forms of illness, regardless of their nature, and regardless of the influence of other etiological factors. Its effect often far outweighs the influence of changes in the physical environment and the effects of random exposure to pathogenic or noxious agents. As a group, those who are experiencing difficulty in adapting to their social environment have a disproportionate amount of all of the illness which occurs among the adult population.
Detection of BCR-ABL transcripts in chronic myeloid leukemia (CML) using a ‘real time’ quantitative RT-PCR assay
Authors: C Preudhomme, F Révillion, A Merlat, L Hornez, C Roumier, N Duflos-Grardel, JP Jouet, A Cosson, JP Peyrat, P Fenaux
Journal: Leukemia (1999)
308 TRANSPLANTATION OF KUPFFER CELLS REPLACES RESIDENT HEPATIC MACROPHAGES CORRECTING THE BLEEDING PHENOTYPE OF HEMOPHILIC MICE
Authors: S. Merlin, A. Follenzi, G. Ranaldo, K.K. Bhargava, C.J. Palestro, M. Prat, L. Santambrogio, S. Gupta
Journal: Journal of Hepatology (2013)
Exertional Dyspnea and Cough as Preludes to Acute Attacks of Bronchial Asthma
Authors: E.R. McFadden
Journal: New England Journal of Medicine (1975)

Although wheezing is believed to be a cardinal manifestation of asthma, some patients with this disorder may not present with wheezing, but rather with either exertional dyspnea or cough. In 14 such patients with dyspnea, there was peripheral airway dysfunction with markedly elevated residual volumes, frequency dependence of dynamic compliance and depressed flow rates in the middle-vital-capacity range, whereas specific conductance and one-second forced expiratory volumes were normal. Circumstantial evidence suggests that mucosal edema or mucous secretions may have been responsible. In seven patients with cough, studies revealed a more severe obstructive pattern that appeared to be the result of increased large-airway resistance, and the patients' response to isoproterenol indicated that contraction of bronchial smooth muscle may have been principally responsible. Thus, intermittent episodes of cough or breathlessness may represent variant aspects of asthmatic attacks.
Abstract 4529: Prognostic implications of TSPO in human colorectal cancer
Authors: Eliot T. McKinley, Gregory D. Ayers, Ralph A. Smith, Ping Zhao, Mary K. Washington, Henry C. Manning
Journal: Cancer Research (2012)

Abstract Translocator protein (TSPO), previously referred to as peripheral benzodiazepine receptor, is an 18kDa outer mitochondrial membrane protein involved in a number of cellular processes including steroid synthesis, cholesterol metabolism, proliferation, and apoptosis. Elevated TSPO expression has been linked with disease progression, diminished survival, and aggressiveness in a number of cancers. Studies conducted in our laboratory have demonstrated that positron emission tomography (PET) imaging with TSPO targeted probes can be used to non-invasively quantify TSPO levels in tumors. These imaging studies suggest that TSPO ligand PET may be a valuable clinical cancer imaging biomarker. In the current studies, TSPO expression in human colon cancer and paired liver metastases was evaluated using tissue microarrays. These arrays were constructed using 99 primary colon cancers and 95 matched primary colon cancers and liver metastases from Vanderbilt patients with known clinical outcomes. Among these, we found that nearly 2/3 of the colon cancers were positive for TSPO expression (64%). Similar to previous studies in other organ sites, elevated TSPO expression was significantly associated with higher tumor grade in the Vanderbilt cohort of CRC patients. Among patients with grade 2 or grade 3 tumors, an individual with elevated TSPO expression was 3 times more likely to have a grade 3 tumor than a grade 2 tumor. In comparing matched primary colon cancers and associated liver metastases, we found a strong concordance between TSPO levels and localization across matched specimens. No correlation was observed between TSPO expression and Ki67 or pEGFR levels suggesting the potentially unique information provided by the measurement of TSPO levels. In conclusion, clinically relevant prognostic information can be obtained by the measurement of TSPO expression in colorectal cancer. Thus, TSPO targeted PET may be a promising-non invasive biomarker in this setting. 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 4529. doi:1538-7445.AM2012-4529
Successful endoscopic management of large upper gastrointestinal perforations following EMR using over-the-scope clipping combined with stenting
Authors: W. Hadj Amor, E. Bonin, V. Vitton, A. Desjeux, J.-C. Grimaud, M. Barthet
Journal: Endoscopy (2012)

Large iatrogenic gastrointestinal perforations (greater than 15 – 20 mm) following therapeutic endoscopy remain a challenge despite growing expertise in endoscopic perforation closure techniques. Current treatment options include stenting [1] [2] or clipping, including the use of an over-the-scope clipping device [3] [4] [5]. We present our experience using a combination of over-the-scope clipping and stenting for the treatment of challenging large iatrogenic gastrointestinal perforations.
Nitric oxide is involved in cerebellar long-term depression
Authors: Daisuke Okada
Journal: Behavioral and Brain Sciences (1996)

The involvement of nitric oxide in cerebellar long-term depression is supported by the observation that nitric oxide is released by climbing fiber stimulation and by pharmacological tool usage. Two forms of long-term depression – one depending on large calcium increase and another on nitric oxide – should be distinguished by their physiological relevance. [CRÉPEL et al.; LINDEN; VINCENT]
Correlation of Glucose Regulation and Hemoglobin A<sub>Ic</sub>in Diabetes Mellitus
Authors: Ronald J. Koenig, Charles M. Peterson, Robert L. Jones, Christopher Saudek, Mark Lehrman, Anthony Cerami
Journal: New England Journal of Medicine (1976)

We studied the increased levels of hemoglobins AIa+Ib and AIc in five hospitalized diabetic patients to determine whether changes in diabetic control would cause parallel changes in the levels of these hemoglobins. Before control of diabetes the mean fasting blood sugar for all patients was 343 mg per deciliter (range, 280 to 450), and hemoglobin AIc concentration 9.8 per cent (range, 6.8 to 12.1). During optimal diabetic control the blood sugar concentration was 84 mg per deciliter (range, 70 to 100), and hemoglobin AIc concentration 5.8 per cent (range, 4.2 to 7.6). Hemoglobin AIc concentration appears to reflect the mean blood sugar concentration best over previous weeks to months. The periodic monitoring of hemoglobin AIc levels provides a useful way of documenting the degree of control of glucose metabolism in diabetic patients and provides a means whereby the relation of carbohydrate control to the development of sequelae can be assessed.
Rifampin in the Treatment of Drug-Resistant<i>Mycobacterium tuberculosis</i>Infections
Authors: A. Vall-Spinosa, William Lester, Thomas Moulding, Paul T. Davidson, J. K. McClatchy
Journal: New England Journal of Medicine (1970)

Thirty patients with far advanced, multiple-drug-resistant pulmonary tuberculosis were treated with rifampin for four to 12 months. The regimens included rifampin in a daily dosage of 600 mg combined, whenever possible, with one or more other antituberculosis drugs to which in vitro susceptibility had been demonstrated. Quiescent status was achieved in 21 (70 per cent) of the patients, whereas in nine (30 per cent) cultures remained positive, or the patient relapsed after having initially achieved sputum negativity. The shortest duration of rifampin therapy producing culture conversion was 10 days, and the longest 90 days, with a mean of 40. In seven of the nine failures rifampin resistance developed, and all but one of these patients received rifampin without a satisfactory companion drug because of previously acquired resistance. However, 65 per cent of the patients receiving rifampin as the sole therapy attained quiescent status; to date only two have relapsed. No toxicity attributable to rifampin was noted in this series.
Abstract 4254: DNA methylation profiling of ovarian tumors by methylation ligation-dependant macroarray.
Authors: Sonia T. Chelbi, Lorena Losi, Sara Saponaro, Patricia Martin, Richard Braunschweig, Jean Benhattar
Journal: Cancer Research (2013)

Abstract Background: Ovarian cancer is the gynecological disease with the highest death rate. Efforts towards ovarian cancer research are needed to develop early detection tools, better therapies, cures and to prevent the disease. DNA methylation profiling of a large set of putative cancer biomarkers may help to identify relevant biological aspects of ovarian cancer. Materials and Methods: We selected 106 patients diagnosed for ovarian cancer (35 serous, 30 endometrioid, 32 mucinous and 8 germinal tumors) for which clinicopathological informations were available and 17 histologically normal ovarian tissues as control. In order to identify methylation signatures, a method called Methylation Ligation-dependant Macroarray (MLM) and developed in our laboratory was applied to DNA extracted from microdissected formalin-fixed and paraffin-embedded tissue sections. The MLM technology, derived from a multiplex ligation assay coupled with an array-based analysis of uniform size amplification products, permits the methylation status analysis of 60 promoter regions at the same time. Results: Each of the 106 ovarian tumor samples analyzed had a unique methylation profile. Hierarchical clustering identified mainly two groups of patients with distinct methylation profiles. The first group of tumors contained low levels of methylation, whereas the second group had higher methylation levels. The group 1 included normal ovarian tissues as well as a large number of ovarian serous tumors. Endometrioid and mucinous tumors were more represented in the group 2. When looking at the gene level, the highest methylation frequency was detected in the TAC1, SPARC, ADAMTS12 and hTERT promoter genes. The promoter of the BORIS/CTCFL cancer testis-antigen gene was found hypomethylated in several tumors, mainly in serous and germinal types. Located in the X-chromosome, the DAX1 promoter gene, which is partially methylated in normal ovarian tissues, was found hypomethylated or hypermethylated in tumors. Interestingly, the difference between the hypo- and hyper-methylated groups concerned mainly genes belonging to the WNT pathway. Conclusion: The marked differences in methylation profiles independently of histological subtypes underscore the importance of characterizing tumors at the molecular level. Further investigations are needed to evaluate the role of the WNT signaling pathway as a marker and putative target for cisplatin chemosensitivity in ovarian tumors. Citation Format: Sonia T. Chelbi, Lorena Losi, Sara Saponaro, Patricia Martin, Richard Braunschweig, Jean Benhattar. DNA methylation profiling of ovarian tumors by methylation ligation-dependant macroarray. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 4254. doi:10.1158/1538-7445.AM2013-4254
18F-FDG PET/CT Findings of Metastasis to Spongy Body of Penis From Urothelial Carcinoma of Bladder
Authors: Yan-li Wang, Na Fang, Lei Zeng, Zeng-jie Wu, Xin-jian Cui
Journal: Clinical Nuclear Medicine (2015)

The spongy body of the penis metastasis from other primary sites is a rare clinical entity. It is frequently associated with widespread metastatic disease and poor prognosis clinically. We report a case of a 61-year-old man with a previous history of cystectomy due to infiltrating urothelial carcinoma of the bladder 12 months ago and presented with penile shaft swelling pain and hematuria for 3 months. The restaging F-FDG PET/CT scan demonstrated a hypermetabolic mass at his penile shaft. This lesion was confirmed on phallectomy to be infiltrating urothelial carcinoma metastasis from the known primary bladder tumor.
Enchondroma of Clivus
Authors: Anirban Mukherjee, Suhas Singla, Chandan Jyoti Das, Chandrasekhar Bal, Rakesh Kumar
Journal: Clinical Nuclear Medicine (2013)

A 55-year-old man underwent MRI for right hemifacial pain, which demonstrated a heterogeneously enhancing lesion in right clivus. The lesion was characterized as enchondroma on CT images, which demonstrated increased tracer uptake on PET-CT images. The chondroid matrix showed increased glucose metabolism with no significant enhancement on MRI, suggesting a perfusion-metabolism mismatch.
Abstract 1090: NR2F1 coordinates a dormancy program by inducing low self-renewal capacity and a repressive chromatin state.
Authors: Maria S. Sosa, Yeriel Estrada, Falguni Parikh, Almudena Bosch Gutierrez, Yang Zheng, Paloma Bragado, Esther Ekpin, Ajish George, Eduardo Farias, Julio Aguirre-ghiso
Journal: Cancer Research (2013)

Abstract Clinical studies have shown that solitary disseminated tumor cells (DTCs) in distant organs can be detected years after treatment of primary tumors. This has led to the notion that these solitary DTCs must enter a non-proliferative state or cellular dormancy. This may also hold true for residual tumor cells left behind in loco-regional sites after surgery. Unfortunately, the mechanisms regulating the timing of dormancy and the awakening of DTCs to fuel recurrences are unknown. Similarly, tools to stably induce dormancy of residual disease are unavailable. Here we show that transient differentiation signals propagated by treatment (3-4 days) with retinoic acid (atRA) along with the DNA demethylating agent 5-Aza-C reprogrammed malignant cells into dormancy for remarkably long periods of time (weeks). This reprogramming was associated with upregulation of the orphan nuclear receptor NR2F1/COUP-TF1 and other genes included in a gene signature previously linked to dormancy and late metastasis in breast patients. Importantly, the reprogramming was dependent on NR2F1, which is also silenced in breast and HNSCC tumors, cell lines and mouse cancer models. NR2F1-induced dormancy was associated with a global repressive chromatin state characterized by a H3K27-/K9-me3high/H3K4-me3/H3K27aclow profile. In both breast and HNSCC models NR2F1 blocked self-renewal extinguishing tumor initiating cell subpopulations. Tracking label retaining H2B-GFP cells, gain and loss of function studies showed that NR2F1-induced quiescence occurs via upregulation of SOX9, RARβ and CDK inhibitors. Importantly, inducible shRNAmir-mediated knock down of NR2F1 revealed that it mediates dormancy of occult loco-regional, spleen and lung DTCs, but not of dormant bone marrow DTCs. We conclude that the ability of NR2F1 to limit self-renewal and promote quiescence is key to dormancy induction. Manipulation of such mechanisms via epigenetic and differentiation therapies might represent a strategy to generate induced dormant cancer cells (iDCs) and maintain or eliminate asymptomatic residual disease. Citation Format: Maria S. Sosa, Yeriel Estrada, Falguni Parikh, Almudena Bosch Gutierrez, Yang Zheng, Paloma Bragado, Esther Ekpin, Ajish George, Eduardo Farias, Julio Aguirre-ghiso. NR2F1 coordinates a dormancy program by inducing low self-renewal capacity and a repressive chromatin state. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 1090. doi:10.1158/1538-7445.AM2013-1090
Case 41-1984
Authors: Gary R. Epler, Eugene J. Mark, Nancy L. Harris
Journal: New England Journal of Medicine (1984)

Presentation of CaseA 65-year-old woman was admitted to the hospital because of pulmonary nodules.There was a 28-year history of anterior chest pain relieved by nitroglycerin. Eighteen years before admission a right radical mastectomy was performed because of carcinoma, and postoperative radiation treatment was administered. Three years later she was treated at another hospital for a myocardial infarct and discontinued a 25-year habit of cigarette smoking. Five years before entry another myocardial infarct occurred. One year later a partial left mastectomy was performed for what the patient understood to be benign disease. Twenty-two months before admission x-ray films of . . .
Endoscopic removal of gallstone impacted in the rectum
Authors: F. Perri, F. Terracciano, M. Gentile, A. Merla, D. Scimeca, A. Andriulli
Journal: Endoscopy (2011)

A 65-year-old woman was admitted to hospital complaining of rectal discomfort that had begun 2 months earlier. Sigmoidoscopy revealed a round object about the size of a peach pit, which was covered by nonbloody semisolid stools ([Fig. 1]).