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1.
A case of Rubinstein‐Taybi syndrome associated with growth hormone deficiency in childhood
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Harinakshi Sanikini David C. Muller Marisa Sophiea Sabina Rinaldi Antonio Agudo Eric J. Duell Elisabete Weiderpass Kim Overvad Anne Tjønneland Jytte Halkjær Marie-Christine Boutron-Ruault Franck Carbonnel Iris Cervenka Heiner Boeing Rudolf Kaaks Tilman Kühn Antonia Trichopoulou Georgia Martimianaki Anna Karakatsani Valeria Pala Domenico Palli Amalia Mattiello Rosario Tumino Carlotta Sacerdote Guri Skeie Charlotta Rylander María-Dolores Chirlaque López Maria-Jose Sánchez Eva Ardanaz Sara Regnér Tanja Stocks Bas Bueno-de-Mesquita Roel C.H. Vermeulen Dagfinn Aune Tammy Y.N. Tong Nathalie Kliemann Neil Murphy Marc Chadeau-Hyam Marc J. Gunter Amanda J. Cross 《International journal of cancer. Journal international du cancer》2020,146(4):929-942
Obesity has been associated with upper gastrointestinal cancers; however, there are limited prospective data on associations by subtype/subsite. Obesity can impact hormonal factors, which have been hypothesized to play a role in these cancers. We investigated anthropometric and reproductive factors in relation to esophageal and gastric cancer by subtype and subsite for 476,160 participants from the European Prospective Investigation into Cancer and Nutrition cohort. Multivariable hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox models. During a mean follow-up of 14 years, 220 esophageal adenocarcinomas (EA), 195 esophageal squamous cell carcinomas, 243 gastric cardia (GC) and 373 gastric noncardia (GNC) cancers were diagnosed. Body mass index (BMI) was associated with EA in men (BMI ≥30 vs. 18.5–25 kg/m2: HR = 1.94, 95% CI: 1.25–3.03) and women (HR = 2.66, 95% CI: 1.15–6.19); however, adjustment for waist-to-hip ratio (WHR) attenuated these associations. After mutual adjustment for BMI and HC, respectively, WHR and waist circumference (WC) were associated with EA in men (HR = 3.47, 95% CI: 1.99–6.06 for WHR >0.96 vs. <0.91; HR = 2.67, 95% CI: 1.52–4.72 for WC >98 vs. <90 cm) and women (HR = 4.40, 95% CI: 1.35–14.33 for WHR >0.82 vs. <0.76; HR = 5.67, 95% CI: 1.76–18.26 for WC >84 vs. <74 cm). WHR was also positively associated with GC in women, and WC was positively associated with GC in men. Inverse associations were observed between parity and EA (HR = 0.38, 95% CI: 0.14–0.99; >2 vs. 0) and age at first pregnancy and GNC (HR = 0.54, 95% CI: 0.32–0.91; >26 vs. <22 years); whereas bilateral ovariectomy was positively associated with GNC (HR = 1.87, 95% CI: 1.04–3.36). These findings support a role for hormonal pathways in upper gastrointestinal cancers. 相似文献
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Julie A. Schmidt Georgina K. Fensom Sabina Rinaldi Augustin Scalbert Paul N. Appleby David Achaintre Audrey Gicquiau Marc J. Gunter Pietro Ferrari Rudolf Kaaks Tilman Kühn Heiner Boeing Antonia Trichopoulou Anna Karakatsani Eleni Peppa Domenico Palli Sabina Sieri Rosario Tumino Bas Bueno-de-Mesquita Antonio Agudo Maria-Jose Sánchez María-Dolores Chirlaque Eva Ardanaz Nerea Larrañaga Aurora Perez-Cornago Nada Assi Elio Riboli Konstantinos K. Tsilidis Timothy J. Key Ruth C. Travis 《International journal of cancer. Journal international du cancer》2020,146(3):720-730
Metabolomics may reveal novel insights into the etiology of prostate cancer, for which few risk factors are established. We investigated the association between patterns in baseline plasma metabolite profile and subsequent prostate cancer risk, using data from 3,057 matched case–control sets from the European Prospective Investigation into Cancer and Nutrition (EPIC). We measured 119 metabolite concentrations in plasma samples, collected on average 9.4 years before diagnosis, by mass spectrometry (AbsoluteIDQ p180 Kit, Biocrates Life Sciences AG). Metabolite patterns were identified using treelet transform, a statistical method for identification of groups of correlated metabolites. Associations of metabolite patterns with prostate cancer risk (OR1SD) were estimated by conditional logistic regression. Supplementary analyses were conducted for metabolite patterns derived using principal component analysis and for individual metabolites. Men with metabolite profiles characterized by higher concentrations of either phosphatidylcholines or hydroxysphingomyelins (OR1SD = 0.77, 95% confidence interval 0.66–0.89), acylcarnitines C18:1 and C18:2, glutamate, ornithine and taurine (OR1SD = 0.72, 0.57–0.90), or lysophosphatidylcholines (OR1SD = 0.81, 0.69–0.95) had lower risk of advanced stage prostate cancer at diagnosis, with no evidence of heterogeneity by follow-up time. Similar associations were observed for the two former patterns with aggressive disease risk (the more aggressive subset of advanced stage), while the latter pattern was inversely related to risk of prostate cancer death (OR1SD = 0.77, 0.61–0.96). No associations were observed for prostate cancer overall or less aggressive tumor subtypes. In conclusion, metabolite patterns may be related to lower risk of more aggressive prostate tumors and prostate cancer death, and might be relevant to etiology of advanced stage prostate cancer. 相似文献
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Lucio Lucchin Amleto D’Amicis Maria Gabriella Gentile Nino Carlo Battistini Maria Antonia Fusco Augusta Palmo Maurizio Muscaritoli Franco Contaldo Emanuele Cereda 《Mediterranean journal of nutrition and metabolism》2009,2(3):171-179
Aim and methods Nutrition, unhealthy lifestyles and cancer appear to be strictly related, but few authors have analysed the interest in dietary
information of cancer patients and their families. This survey was conducted in the Veneto area (Italy) to investigate the
concern of cancer patients and their family members about diet as a health tool before and after diagnosis of cancer.
Results Seven hundred and four questionnaires were collected: 380 from cancer patients and 324 from family members of cancer subjects.
Breast cancer (BC) was the most frequent disease for patients (61.8%) as well as families (26.5%). Generally, the importance
of having precise diet information after diagnosis is recognised by 40.3% of patients, with significant differences between
the various types of cancer: gastric and colon/rectum cancer (GCC) patients were more concerned than BC women about precise
information concerning a diet to follow immediately after diagnosis (p = 0.000, ODs = 3.10, CI 1.68–5.71) or during treatments (p = 0.001, ODs = 2.67, CI 1.46–4.89). The nutritional information is supplied to patients in 34% of cases and to relatives
in 30.3%, often from non-medical sources. In total healthcare workers (family doctor, oncologist, surgeon, dietician) represented
the exclusive source of dietary information for 24.9% of patients and 22.9% of family members. Diet after diagnosis changes
in 69.1% of GCC patients and in 39.2% of BC women. Relatives, particularly women, report difficulties preparing patients’
meals in 30.7% of cases, changes in the eating habits of the entire family in 29.9% and discontent connected with patients
diet in 13.9%. The concern about proper nutrition after diagnosis increases more in GCC subjects (p < 0.025) when compared to BC subjects and in patients with more recent diagnosis (p < 0.041) when compared with patients with diagnosis >5 years ago, while in family members the interest in diet after diagnosis
increases more in women than in men (p < 0.030) without other differences regarding the degree of relationship, type of cancer or diagnosis time. Relatives (92.7%)
have more interest in nutritional education than patients (74.9%). Cancer patients <65 years were more interested in educational
initiatives concerning nutrition (p = 0.000, ODs = 4.46, CI 2.6–7.4) than older patients (>65 years) and female subjects were more concerned than male patients
(p = 0.008, ODs = 2.11, CI 1.2–3.6).
Conclusions The interest in the dietary knowledge and in educational initiatives concerning nutrition is high in cancer patients and their
relatives, although it decreases with the age. The poor attention paid to nutrition of cancer patients by various healthcare
workers deserves consideration, since the psychophysical wellbeing and perhaps also survival of cancer patients can be improved
by correct dietary management, as well as, naturally, by the principal treatments themselves. 相似文献
7.
Francesco Bertoni Giovanni Cazzaniga Giovanna Bosshard Enrico Roggero Renzo Barbazza Michele De Boni Carlo Capella Ennio Pedrinis Franco Cavalli rea Biondi & Emanuele Zucca 《British journal of haematology》1997,97(4):830-836
Gastric MALT lymphoma usually develops from chronic gastritis, the vast majority of which (>90%) is associated with Helicobacter pylori infection. We sequenced the third complementarity determining region (CDR3) of immunoglobulin heavy chain genes in 19 gastric MALT lymphoma clones to determine the pattern of variable (V), diversity (D) and joining (J) gene utilization during immunoglobulin gene rearrangement.
DNA was extracted from paraffin-embedded sections and the rearranged CDR3 regions were amplified using a semi-nested polymerase chain reaction (with primers complementary to the conserved framework-three segment of the variable region [FR3A] and J regions). The DNA used for cloning and sequencing was obtained after purification of monoclonal bands excised from polyacrylamide gels. The N-D-N region specific to each clone was compared with known germline D sequences.
Similarly to that observed in normal and leukaemic B cells, our series of gastric MALT lymphomas showed apparent preferential utilization of genes from the DXP family. In two cases no similarity between the CDR3 nucleotide sequences of the neoplastic clones and the known germline D sequences could be found. In 10/19 analysed alleles the lymphoma B-cell clones appeared to contain two D gene segments (D-D recombination), a rare occurrence in normal individuals but one which has been described as a significant event in the determination of idiotype expression and antigen-binding affinity. Remarkably, despite the use of different D and J segments, the resultant amino acid sequences matched in two patients, suggesting the presence of a common selecting antigen.
The observed pattern of D gene rearrangement suggests that MALT lymphoma B-cell clones have undergone antigen selection, which seems to indicate that the antigen stimulation plays a pivotal role in the development of the lymphoma. 相似文献
DNA was extracted from paraffin-embedded sections and the rearranged CDR3 regions were amplified using a semi-nested polymerase chain reaction (with primers complementary to the conserved framework-three segment of the variable region [FR3A] and J regions). The DNA used for cloning and sequencing was obtained after purification of monoclonal bands excised from polyacrylamide gels. The N-D-N region specific to each clone was compared with known germline D sequences.
Similarly to that observed in normal and leukaemic B cells, our series of gastric MALT lymphomas showed apparent preferential utilization of genes from the DXP family. In two cases no similarity between the CDR3 nucleotide sequences of the neoplastic clones and the known germline D sequences could be found. In 10/19 analysed alleles the lymphoma B-cell clones appeared to contain two D gene segments (D-D recombination), a rare occurrence in normal individuals but one which has been described as a significant event in the determination of idiotype expression and antigen-binding affinity. Remarkably, despite the use of different D and J segments, the resultant amino acid sequences matched in two patients, suggesting the presence of a common selecting antigen.
The observed pattern of D gene rearrangement suggests that MALT lymphoma B-cell clones have undergone antigen selection, which seems to indicate that the antigen stimulation plays a pivotal role in the development of the lymphoma. 相似文献
8.
Claudio Babiloni Giuliano Binetti Emanuele Cassetta Gloria Dal Forno Claudio Del Percio Florinda Ferreri Raffaele Ferri Giovanni Frisoni Koichi Hirata Bartolo Lanuzza Carlo Miniussi Davide V Moretti Flavio Nobili Guido Rodriguez Gian Luca Romani Serenella Salinari Paolo M Rossini 《Clinical neurophysiology》2006,117(2):252-268
OBJECTIVE: The present study tested the hypothesis that cortical electroencephalographic (EEG) rhythms. change across normal elderly (Nold), mild cognitive impairment (MCI), and Alzheimer's disease (AD) subjects as a function of the global cognitive level. METHODS: Resting eyes-closed EEG data were recorded in 155 MCI, 193 mild AD, and 126 age-matched Nold subjects. EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha 1 (8-10.5 Hz), alpha 2 (10.5-13 Hz), beta 1 (13-20 Hz), and beta 2 (20-30 Hz). EEG cortical sources were estimated by LORETA. RESULTS: Occipital delta and alpha 1 sources in parietal, occipital, temporal, and 'limbic' areas had an intermediate magnitude in MCI subjects compared to mild AD and Nold subjects. These five EEG sources presented both linear and nonlinear (linear, exponential, logarithmic, and power) correlations with the global cognitive level (as revealed by mini mental state examination score) across all subjects. CONCLUSIONS: Cortical EEG rhythms change in pathological aging as a function of the global cognitive level. SIGNIFICANCE: The present functional data on large populations support the 'transitional hypothesis' of a shadow zone across normality, pre-clinical stage of dementia (MCI), and AD. 相似文献
9.
Emanuele Pilato Andrea Dell'Amore Luca Botta Giorgio Arpesella 《European journal of cardio-thoracic surgery》2007,32(1):180-182
Familial amyloidotic polyneuropathy (FAP) is an inherited disease characterized by an abnormal systemic deposition of a mutant protein called transthyretin (TTR) with elective involvement of the peripheral nervous system, but often determining cardiac, gastrointestinal, and urinary tract dysfunction. FAP commonly affects the liver and the heart until end-organs failure. Transthyretin amyloidosis is today an accepted indication for orthotopic liver transplantation (OLT). Combined heart and liver transplantation (CHLT) may be an attractive and rational treatment option when both organs are contemporary involved by this type of amyloidotic disease. Nowadays, surgical indications and techniques are far from being consolidated because only few cases of CHLT have been previously reported in literature. From November 1999 to May 2006, we performed five orthotopic combined heart and liver transplantations for FAP at our institution. Our surgical experience and clinical outcomes are herein reported. 相似文献
10.
Claudio Babiloni Rosanna Squitti Claudio Del Percio Emanuele Cassetta Maria Carla Ventriglia Florinda Ferreri Mario Tombini Giovanni Frisoni Giuliano Binetti Mariella Gurzi Serenella Salinari Filippo Zappasodi Paolo M Rossini 《Clinical neurophysiology》2007,118(6):1244-1260
OBJECTIVE: The present study tested the hypothesis that the serum copper abnormalities were correlated with alterations of resting electroencephalographic (EEG) rhythms across the continuum of healthy elderly (Hold), mild cognitive impairment (MCI), and AD subjects. METHODS: Resting eyes-closed EEG rhythms delta (2-4Hz), theta (4-8Hz), alpha 1 (8-10.5Hz), alpha 2 (10.5-13Hz), beta 1 (13-20Hz), beta 2 (20-30Hz), and gamma (30-40Hz), estimated by LORETA, were recorded in 17 Hold, 19 MCI, 27 AD- (MMSE< or =20), and 27 AD+ (MMSE20) individuals and correlated with copper biological variables. RESULTS: Across the continuum of Hold, MCI and AD subjects, alpha sources in parietal, occipital, and temporal areas were decreased, while the magnitude of the delta and theta EEG sources in parietal, occipital, and temporal areas was increased. The fraction of serum copper unbound to ceruloplasmin positively correlated with temporal and frontal delta sources, regardless of the effects of age, gender, and education. CONCLUSIONS: These results sustain the hypothesis of a toxic component of serum copper that is correlated with functional loss of AD, as revealed by EEG indexes. SIGNIFICANCE: The present study represents the first demonstration that the fraction of serum copper unbound to ceruloplasmin is correlated with cortical delta rhythms across Hold, MCI, and AD subjects, thus unveiling possible relationships among the biological parameter, advanced neurodegenerative processes, and synchronization mechanisms regulating the relative amplitude of selective EEG rhythms. 相似文献