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1.
GP SCHWAB AL BLUM E BODNER B DALLEMAGNE K GLASER H KOOP F PACE W RÖSCH JR SIEWERT G WETSCHER 《Journal of gastroenterology and hepatology》1997,12(12):785-789
Gastroesophageal reflux disease (GERD) is the most common disease of the upper gastrointestinal tract. With the introduction of proton pump inhibitors medical treatment of GERD has been significantly improved. However, the development of laparoscopic antireflux surgery resulted in an increasing interest of surgeons in this disease. An interactive meeting was organized in order to develop an agreement between gastoenterologists and surgeons regarding therapeutic decisions and this is the main topic of this paper. 相似文献
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In 61 drug-free depressed patients, relationships were studied between observed behaviors and measures of common clinical concepts of activation. The behaviors were observed during a clinical interview and analyzed with ethological methods. Activation was assessed by means of self-ratings (Thayer, AD-ACL) and global judgement (Hamilton, retardation, agitation). Various aspects of patients' speaking and listening behaviors were recorded and analyzed, such as looking, head movements, yes-nodding and no-shaking, leg movements, gesturing, and body and object touching. A factor analysis was applied, enabling grouping of behaviors without using a priori concepts. Five factors reflected different aspects of a conversation: restlessness (leg and hand movements), speech, active listening (head movements and intensive body touching, during listening), speaking effort (looking, gesticulating, head movements, during speaking), and eagerness (yes-nodding and no-shaking). Significant positive relationships were found between the speech factor, the speaking effort factor and the restlessness factor on the one hand, and activation on the other. The eagerness factor was related negatively with activation. The results give insight into the organization of behavior during an interview, and show how this is related to clinical concepts of activation. 相似文献
4.
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) 总被引:10,自引:1,他引:10
Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J 《Human molecular genetics》1996,5(4):509-512
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with
micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced
thoracic cavity. In the most common subtype (TD1), femurs are curved, while
in TD2, straight femurs are associated with cloverleaf skull. Mutations in
the fibroblast growth factor receptor 3 (FGFR3) gene were identified in
both subtypes. While TD2 was accounted for by a single recurrent mutation
in the tyrosine kinase 2 domain, TD1 resulted from either stop codon
mutations or missense mutations in the extracellular domain of the gene.
Here, we report the identification of FGFR3 mutations in 25/26 TD cases.
Two novel missense mutations (Y373C and G370C) were detected in 8/26 and
1/26 TD1 cases respectively. Both mutations created cysteine residues in
the juxta extramembrane domain of the receptor. Sixteen cases carried the
previously reported R248C (9/26 cases), S249C (2/26 cases) or stop codon
FGFR3 mutations (5/26 cases). Our results suggest that TD1 is a genetically
homogeneous condition and give additional support to the view that newly
created cysteine residues in the extracellular domain of the protein play a
key role in the severity of the disease.
相似文献
5.
Mersch PP Vastenburg NC Meesters Y Bouhuys AL Beersma DG van den Hoofdakker RH den Boer JA 《Journal of affective disorders》2004,80(2-3):209-219
Background: The Seasonal Pattern Assessment Questionnaire (SPAQ) is a frequently used screening instrument in the research on Seasonal Affective Disorder (SAD). Nevertheless, studies on its reliability and validity are relatively scarce. In the present study the reliability and the contrast validity of the SPAQ are investigated. Methods: SAD patients, selected by means of a clinical interview, non-seasonal depressed out-patients, non-depressed out-patients, and a control group, are contrasted to estimate the discriminating power of the SPAQ. Also, the reliability and factor structure of the seasonality and the climate subscales are investigated. To study food intake the Seasonal Food Preference Questionnaire (SFPQ) was developed. Results: The SAD criterion of the SPAQ shows good specificity (94%), but a low sensitivity (44%). Discriminant analysis shows sufficient ability to classify subjects (81% correctly classified). The Global Seasonality Scale has a good internal consistency. It consists of two factors, a psychological factor and a food factor. The SFPQ is sensitive for carbohydrate intake by SAD patients. Limitations: Most SAD patients had received treatment and completed the SPAQ while they were not depressed, which may have influenced the sensitivity. Conclusions: The SPAQ is not sensitive enough to be considered a diagnostic instrument for SAD. Nevertheless, it is accurate enough to be used as a screenings instrument. The only false positives were found in the depressive group. The accuracy of prevalence Figs. can be improved by completion of the SPAQ in the summer months, combined with the completion of a depression scale. 相似文献
6.
BACKGROUND: Coordination of nonverbal behaviour during interactions is a prerequisite for satisfactory relationships. Lack of coordination may form a risk factor for depression. The 'vulnerability-accumulation hypothesis' assumes that vulnerability to recurrence of depression will increase with increasing experience of depressive episodes. Therefore it is expected that interviewers and patients remitted from a recurrent episode of depression would reach less coordination during a clinical interview compared to interviewers and patients remitted from a first lifetime episode. Moreover, we assumed that prior severity of depression modifies this reciprocal coordination process. METHODS: During discharge interviews, interviewers were videotaped in interaction with remitted patients with unipolar major depression recurrent depression (REC); n=28; first episode (SEP); n=22. Durations and frequencies of nonverbal involvement behaviour was registered during the first 15 min. Involvement of the patients consisted of gesticulating, looking at the interviewer, and general head movements; yes--nodding and hm, hm, yes, yes reflected involvement of the interviewer. Coordination between patients and interviewers was analyzed per 3-min epochs and defined as 'attunement': the absolute difference between patients' and interviewers' involvement. Averaged attunement, its time course and variability (presumably reflecting control of the attunement process) were assessed. RESULTS: The time course of nonverbal attunement differed between the REC and SEP condition. A larger variability of attunement was found in patients remitted from a relatively severely depressed episode, compared to patients remitted from a severe first life time episode. No other significant differences were found. CONCLUSIONS: Partial support was found for the notion that nonverbal vulnerability accumulates in depression and that the severity of prior depression modifies this process. 相似文献
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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1 总被引:10,自引:0,他引:10
Lemmens I; Van de Ven WJ; Kas K; Zhang CX; Giraud S; Wautot V; Buisson N; De Witte K; Salandre J; Lenoir G; Pugeat M; Calender A; Parente F; Quincey D; Gaudray P; De Wit MJ; Lips CJ; Hoppener JW; Khodaei S; Grant AL; Weber G; Kytola S; Teh BT; Farnebo F; Thakker RV 《Human molecular genetics》1997,6(7):1177-1183
10.
Yang GC; Croaker D; Zhang AL; Manglick P; Cartmill T; Cass D 《Human molecular genetics》1998,7(6):1047-1052
Lethal white foal syndrome (LWFS) is a congenital anomaly of horses
characterized by a white coat colour and aganglionosis of the bowel, which
is similar to Hirschsprung disease (HSCR). We decided to investigate
possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as
recent studies in mutant rodents and some patients have demonstrated EDNRB
defects. First, we identified a full-length cDNA for horse EDNRB . This
cDNA fragment contained a 1329 bp open reading frame which encoded 443
amino acid residues. The predicted amino acid sequence was 89, 91 and 85%
identical to human, bovine and mouse as well as rat EDNRB respectively, but
only 55% identical to the human, bovine and rat endothelin A receptor
(EDNRA). Secondly, sequence analysis, together with allele-specific PCR and
the amplification- created restriction site (ACRS) technique, revealed a
dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in
the predicted first transmembrane domain of the EDNRB protein. This was
associated with LWFS when homozygous and with the overo phenotype when
heterozygous.
相似文献