Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Chromosome investigations were carried out in 7 patients with Fanconi's anemia, type Estren-Dameshek. The frequency and types of chromosome instability found in cultured lymphocytes were in accord with those detected in individuals with classical Fanconi's anemia. The break-point distribution indicates a significant excess of breaks in chromosomes No. 1, 2, and 7 and a deficit in No. 18 and X and Y chromosomes. There was a clear clustering of breaks at certain locations in chromosomes No. 1, 2, 3, 7, 9, and 14. The location of the breaks with respect to the bands demonstrated an almost exclusive involvement of the lighter bands, regardless of the banding method used. These results suggest that most breaks take place in the interbands between the G and R bands. In all patients, chromosome instability was less frequent in direct bone marrow preparations than in lymphocyte cultures. However, cultured bone marrow cells showed a significant increase of chromosome aberrations. On the whole, the chromosome data derived from this series of patients are in agreement with those obtained in individuals with classical Fanconi's anemia and give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia.     

Evaluation of dopaminergic tone in hyperprolactinemia. III. Thyroid-stimulating hormone response to metoclopramide in differential diagnosis and postoperative follow-up of prolactinoma patients

Recently, it has been shown that patients with a PRL-secreting pituitary adenoma have a greater thyroid stimulating hormone (TSH) release after dopamine (DA)-receptor blockade than normal subjects. We have compared the TSH and PRL responses to metoclopramide (MCP) in normal and postpartum lactating women with those in 28 patients with hyperprolactinemia of different origin. Patients with a PRL-secreting pituitary adenoma were also tested after transsphenoidal removal of the tumor in order to establish the prognostic value of this test in such patients. Following MCP administration, percent increases in plasma PRL levels were greater in normal female subjects than postpartum lactating women. Plasma TSH levels did not increase in postpartum women and had a modest increment in normal subjects. In patients with hypothalamic tumors and empty sella syndrome plasma PRL and TSH levels showed modest or no increases after MCP administration. In ten patients harboring a microprolactinoma, plasma TSH levels showed an exaggerated increment after DA-receptor blockade. Postoperatively, despite normal or borderline PRL levels in the immediate postoperative period, a TSH response to MCP was present (in five patients one to two weeks after the operation, and in five patients one to three years after the operation), suggesting an increased DA activity even in the absence of hyperprolactinemia. In conclusion, the TSH test can easily detect increased DA-activity in patients with a microprolactinoma both preoperatively and postoperatively. It is possible that some patients with increased DA-activity in presence of normal PRL levels and normal PRL responsiveness to stimulation will experience a recurrence of hyperprolactinemia.(ABSTRACT TRUNCATED AT 250 WORDS)     

Durability of the Diagnosis of Irritable Bowel Syndrome Based on Clinical Criteria

Our purpose was to evaluate the durability of the diagnosis of irritable bowel syndrome (IBS) based on clinical criteria. The study population consisted of a cohort of previously published study patients evaluated for IBS between 1989 and 1992, who met the International Congress of Gastroenterology criteria for IBS. Patients were reinterviewed for cardinal features of IBS, Rome I, Rome II, and Manning criteria 10-13 years after the initial diagnosis. During the observational follow-up period, there were 75 patients, 14 males and 61 females, with a mean age of 47.5 +/- 11.3 years (SD; range, 20 to 75 years). Mean time of reinterview after initial diagnosis was 11.8 +/- 0.9 years (range, 10 to 13 years). None of the 75 patients had an abdominal condition which could have been mistaken for IBS. Other abdominal conditions diagnosed during this period included diverticulitis (five), uterine fibromyoma (three), and gallbladder disease (three). Sixty-nine patients (92%) did not consider their symptoms as resolved. Thirty-five (46.7%) had repeat structural evaluation of the colon for similar symptoms without any new diagnoses made. Twenty-six (34.7%) and 32 (42.7%) presently meet the Rome II and Rome I criteria for IBS, respectively. Clinicians are advised to use clinical criteria for a specific and durable diagnosis of IBS.     

Irritable bowel syndrome: physicians' awareness and patients' experience

AIM: To study if and how physicians use the irritable bowel syndrome (IBS) diagnostic criteria and to assess treatment strategies in IBS patients. METHODS: A questionnaire was sent to 191 physicians regarding IBS criteria, diagnostic methods and treatment. Furthermore, 94 patients who were diagnosed with IBS underwent telephone interview. RESULTS: A total of 80/191 (41.9%) physicians responded to the survey. Overall, 13 patients were diag-nosed monthly with IBS by specialists in gastroenterology (SGs) and 2.5 patients by general practitioners (GPs). All the SGs knew of the criteria to diagnose IBS, as did 46/70 (65.7%) GPs. Seventy-nine percent used the patient’s history, 38% used a physical examination, and 38% exclusion of other diseases to diagnose IBS. Only 18/80 (22.5%) physicians used specific IBS criteria. Of the patients interviewed, 59/94 (62.8%) knew they had experienced IBS. Two out of five patients knew IBS and had seen a physician because of IBS symptoms. Half of those received a diagnosis of IBS. A total of 13% were satisfied with treatment. IBS affected daily activities in 43% of cases. CONCLUSION: Half of the patients with IBS who consulted a physician received a diagnosis. Awareness and knowledge of diagnostic criteria for IBS differ between SGs and GPs.     

符合罗马Ⅲ标准FD患者心理测试及自主神经功能观察44例

目的:观察功能性消化不良(functional dyspep-sia1,FD)及其不同类型患者的心理状态和自主神经功能,以了解其特点.方法:对符合罗马Ⅲ标准的44例FD患者根据罗马Ⅲ分类标准分为餐后不适综合征(postprandial distress syndrome,PDS)(n=31)和上腹痛综合征(epigastric pain syndrome,EPS)(n=13)两个类型,16例无症状的健康人作为对照组,对所有受试者均进行上胃肠消化不良症状评分、Zung氏量表进行心理测试和自主神经功能检测.结果:FD组抑郁和(或)焦虑状态的比例(24/44),较对照组(1/16)明显多见(P=0.001).FD抑郁评分(49.36±1.71)和焦虑评分(39.83±1.57)均明显高于对照组(34.42±1.98和27.77±0.75,P值均为0.000).餐后不适组抑郁和焦虑评分(51.40±1.80和40.39±2.01)及上腹痛组抑郁和焦虑评分(45.50±3.68和38.52±2.44),均高于对照组(P值分别为0.000、0.000和0.026、0.001).餐后不适组抑郁评分较上腹痛组有增高趋势(P=0.050).FD组自主神经功能检测中深呼吸心率变异(17.61±1.18)较对照组(22.71±2.12)明显减低(P=0.031),上腹痛组深呼吸心率变异(16.17±1.98)亦较对照组明显减低(P=0.038).存在焦虑抑郁状态患者深呼吸心率变异(17.23±1.49)较对照组(22.71±2.12)明显减低(P=0.036);非焦虑抑郁组与对照组及焦虑抑郁组与非焦虑抑郁组自主神经功能检测无明显差异.结论:FD患者焦虑、抑郁状态较明显,餐后不适组抑郁状态更趋严重;FD患者的自主神经功能受损以副交感神经为主;存在抑郁和(或)焦虑状态的FD患者更易出现自主神经功能受损.     

High performance liquid chromatographic analysis of molecular species of phosphatidylcholine--development of quantitative assay and its application to human bile

In this paper we propose a novel, rapid and simple high-performance liquid chromatographic (HPLC) method for the identification and quantitation of individual phosphatidylcholine (PC) molecular species from natural mixtures. To overcome difficulties deriving from the lack of adequate standards and from the variability of the responses to UV spectrophotometric detectors currently used in HPLC analysis, we first fractionated and quantitated the major molecular species of a commercial egg PC by means of a preparative column. The identification of PC molecular species was confirmed by gas-liquid chromatographic analysis of fatty acids. We employed the fractions recovered from preparative HPLC to determine the detector calibration factors of the individual molecular species separated using an analytical, high-speed, reversed-phase HPLC column. The proposed method seems to be adequate for the analysis of PC from many biological sources. Its application to the analysis of human hepatic and gallbladder biliary PC is shown.     

Comorbid irritable bowel syndrome symptoms and headache have greater association with anxiety than depression: Annual health check-up survey results

High rates of co-existing irritable bowel syndrome (IBS) and headache have been reported in western countries. We investigated that comorbidity in individuals in Japan, along with anxiety and depression in subjects with and without IBS symptoms and/or headache.This cross-sectional study was performed from April 2012 to January 2013 at the Matsue Seikyo General Hospital Health Check Center. Questionnaires concerning symptoms related to IBS (Rome III) and headache, as well as anxiety/depression score were sent to individuals scheduled to undergo an annual health check-up, then returned during the visit and analyzed in a blinded manner.A total of 2885 individuals returned completed questionnaires and were enrolled, of whom 218 (7.6%) met the IBS criteria. The rates of co-existing headache in subjects with and without IBS symptoms were 44.0% (96/218) and 22.9% (611/2667), respectively, indicating a significantly higher rate of co-existing headache in subjects with as compared to without IBS (odds ratio [OR] 2.65, P < .001). Furthermore, the percentage of subjects with anxiety along with comorbid IBS symptoms and headache was significantly greater as compared to those with IBS (OR 3.01, P = .001) or headache (OR 2.41, P < .001) alone. Unlike anxiety, the percentage of subjects with depression was not significantly different among the IBS/non-headache, non-IBS/headache, and IBS/headache groups.Subjects with IBS symptoms had a higher rate of co-existing headache as compared to those without IBS. Furthermore, those with comorbid IBS symptoms and headache had a greater association with anxiety than with depression, as compared to those with only IBS or headache.     

A questionnaire-based survey on the etiopathogenesis of chronic constipation during a medical check-up in Japan

The study group of the Japanese Society of Gastroenterology released evidence-based clinical practice guidelines for chronic constipation (CC) in 2017, and irritable bowel syndrome (IBS) was treated as one of the causes of CC. We examined the differences in characteristics between IBS and non-IBS subjects with CC who underwent a medical check-up in Japan. A total of 10,658 subjects participated in this study, and we focused on 467 subjects who fulfilled the diagnostic criteria of CC using a questionnaire survey. The number of IBS subjects was 21, and they had sleep disorders, were more symptomatic (e.g., abdominal pain, abdominal bloating/distension, feeling stressed, annoyance, lack of motivation, fatigue upon waking, and feeling depressed), and had more episodes of sensation of incomplete evacuation and anorectal obstruction/blockage during defecation than non-IBS subjects. Furthermore, stool frequency of IBS subjects was significantly different from non-IBS subjects. Multivariate ordinal logistic regression analysis revealed that the factors associated with a higher stool frequency were IBS [odds ratio (OR), 2.46; 95% confidence interval (CI), 1.00–6.05; p = 0.049], male sex (OR, 1.97; 95% CI, 1.20–3.23; p = 0.007), and regular exercise (OR, 1.80; 95% CI, 1.05–3.07; p = 0.033). These findings suggest that IBS has unique characteristics in subjects with CC.