Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels

Background: Oxidation processes play an important role in atherogenesis. Bilirubin IX is recognised as a potent antioxidant. In the present study, we assessed the role of elevated serum bilirubin levels in the prevention of ischemic heart disease (IHD). Methods: The occurrence of IHD was determined in Gilbert syndrome (GS) patients above 40 years (n=50). The diagnosis was based on past medical history and ECG criteria. The occurrence was related to that of the comparable general population (n=2296). Serum biochemistry, including the total antioxidant status was evaluated in the GS subjects, IHD patients (n=38) and control subjects (n=38). Results: The prevalence of IHD in GS subjects (aged 49.7±9.0 years) was 2% (0.05–10.7%, 95% confidence interval), compared to 12.1% in a general population (P<0.05). Bilirubin, total antioxidant capacity and high density lipoprotein (HDL) cholesterol were found to be significantly higher in GS subjects compared to control groups (P<0.05). According to linear discriminant analysis, hyperbilirubinemia rather than elevation of HDL cholesterol levels seemed to be more important in protection from IHD. Conclusions: In the present study, low prevalence of IHD in GS subjects was detected. It may be presumed that chronic hyperbilirubinemia prevent the development of IHD by increasing the serum antioxidant capacity.     

Hypertrophic cardiomyopathy: Subclassification by M mode echocardiography

Seventy-four patients with hypertrophic cardiomyopathy, hemodynamically classified into well defined subgroups (left ventricular outflow tract obstruction at rest [27 patients], labile obstruction [4 patients], latent obstruction [28 patients] and no obstruction [15 patients]) were studied with M mode echocardiography. Significant echocardiographic differences were found among these groups. The most important differentiating feature was the degree of systolic anterior motion of the anterior mitral leaflet. Combined with prolonged interventricular septal contact (that is, for more than 30 percent of echocardiographic systole), it occurred in all 27 patients with obstruction at rest but in no patient with latent or no obstruction. Another differentiating feature was aortic valve midsystolic notching, which occurred in all 25 patients with obstruction at rest (in whom adequate aortic valve echograms could be obtained) but in only 3 of 17 patients with latent obstruction and in no patients without obstruction. The third most useful differentiating feature was left atrial enlargement, which occurred in 25 of 27 in the group with obstruction at rest, but in only 4 of 28 in the group with latent obstruction and in 2 of 15 in the group without obstruction.Other M mode echocardiographic findings in patients with hypertrophic cardiomyopathy showed overlap among subgroups and therefore could not be relied on for noninvasive subclassification. These echocardiographic abnormalities included septal and posterior wall thickness, septum to posterior wall thickness ratio, septal and posterior wall systolic thickening, left ventricular internal diameter, left ventricular outflow tract size at the onset of systole, mitral leaflet position and percent diastolic anterior mitral leaflet-interventricular septal contact.It is concluded that a noninvasive classification of patients with hypertrophic cardiomyopathy into hemodynamic subgroups of obstruction at rest, latent obstruction and no obstruction can be made by assessing the degree of systolic anterior motion, the presence of aortic valve mid systolic notching, and left atrial size. This noninvasive M mode echocardiographic subclassification has important clinical implications.     

Intermittent hepatitis B surface antigenuria in a renal transplant recipient

It has been demonstrated that hepatitis B surface antigen (HB₈Ag) can be detected in the urine of a majority of persistent serum carriers of HB₈Ag undergoing hemodialysis with urinary output. Therefore we have proposed that, in this population, urine may represent a potential vehicle for nonparental transmission of hepatitis B. Described here is a renal transplant recipient with intermittent HB₈Ag in the urine who has never been subjected to hemodialysis and who underwent bilateral nephrectomy before renal transplantation. Determinations of HB₈Ag or antibody to HB₈Ag (anti-HB₈) in serum obtained from this patient and three household contacts, as well as in serial urine samples from the patient, were performed by radioimmunoassay. The patient has consistently had HB₈Ag in her serum (HB₈Ag positive) (subtype ad) for at least three years. Four of five urines obtained over a four-month period also contained HB₈Ag. Two serum samples, one year apart, obtained from the son of this index patient both contained HB₈Ag. Serum samples from her former husband and a current cohabitant were void of HB₈Ag, but did contain anti-HB₈, indicating previous exposure to hepatitis B. We believe this information implicates the index patient as a potential source of hepatitis B to a number of persons. The epidemiologic consequences of HB₈Ag positive persons receiving a renal transplant have not been adequately emphasized. Furthermore, the presence of HB₈Ag in the urine eight years after a bilateral nephrectomy and successful renal transplantation suggests that the transplanted kidney allows passage of HB₈Ag into the urine and that the presence of an end-stage kidney is not required for antigenuria. Finally, because successful renal transplantation results in normal urine volume and increased interaction of the recipient with the general population, the urine of HB₈Ag carriers could have an important role in the spread of hepatitis B.     

GILBERT SYNDROME ASSOCIATED WITH β-THALASSEMIA

The authors investigated whether the considerable variability in serum bilirubin levels (STB) found in transfusion-dependent β-thalassemia, β-thal intermedia, and heterozygous β-thalassemia individuals could be related to the coexistence of Gilbert syndrome (GS). The promoter region [A(TA) n TAA] of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) was analyzed in a total of 128 β-thalassemia individuals (108 transfusion-dependent β-thal patients, 20 very mild β-thal intermedia) and in 33 β-thal heterozygotes. The control group consisted of 70 healthy children with no history of anemia. The frequency of GS genotype (TA) 7 /(TA) 7 did not differ significantly between the groups studied. A significant difference was observed between serum bilirubin levels (STB) and GS genotypes (TA) 7 /(TA) 7 and (TA) 6 /(TA) 7 and also between (TA) 7 /(TA) 7 and (TA) 6 /(TA) 6 for all groups examined. These results confirm that the (TA) 7 /(TA) 7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in β-thalassemia major, intermedia, and heterozygous individuals.     

腹股沟管补片放置与Gilbert术后疼痛

目的比较腹股沟管补片放置与否对Gilbert术后疼痛发生的影响。 方法选择2014年2月至2017年2月,嘉兴市第二医院施行部分单侧Gilbert术式患者269例。按手术方式分为传统Gilbert组（腹膜前间隙及腹股沟管中均放置补片）与改良Gilbert组（仅腹膜前间隙放置补片,对腹股沟管补片修剪去大部分,仅在内环口处留下少量补片用于缝合固定）。比较各组术后近期疼痛、术后慢性疼痛、不同慢性疼痛性质的发生率及随访期间的复发率等。 结果2组随访期内的术后复发率比较,差异无统计学意义（P=1.000）。传统Gilber组术后发生近期疼痛158例,其中中度30例,重度7例;发生术后腹股沟区慢性疼痛（chronic postoperative inguinal pain,CPIP）44例,其中中度17例,重度6例。改良Gilber组术后发生近期疼痛32例,其中中度2例,重度1例;发生CPIP4例,其中中度1例,重度0例。改良Gilbert组较传统Gilbert组,术后近期的中重度疼痛发生率、CPIP的总体发生率、术后中重度CPIP的发生率、表现为活动时诱发疼痛的CPIP的发生率均明显较传统Gilbert组低,差异均有统计学意义（P=0.034、0.048、0.036、0.049）。 结论仅腹膜前间隙放置补片而剪去大部分腹股沟管补片改良Gilbert术可以有效减少Gilbert术后中重度近期疼痛的发生率、慢性疼痛的总发生率及中重度慢性疼痛的发生率,能够降低术后慢性疼痛中活动时诱发疼痛的发生率,且随访期间未增加疝复发率。     

应用连接介导PCR法于线粒体DNA的测序

目的 简化ＤＮＡ测序方法,优化条件,以适用于线粒体ＤＮＡ的测序。方法 应用Ｍａｘａｍ Ｇｉｌｂｅｒｔ化学断反应和连接介导ＰＣＲ（Ｌｉｇａｔｉｏｎ Ｍｅｄｉａｔｅｄ ＰＣＲ,ＬＭＰＣＲ）来测定线粒体ＤＮＡ的序列。结果 读取的１４０ｂｐ的核苷酸序列,输入基因库,确定为线粒体ＤＮＡ重链８０５１～８１９０片段的序列,符合率为７０．７％（９９／１４０）。结论 该方法改进的成功,对进一步进行线料体ＤＮＡ氧化损     

Gilbert Ballet et la médiumnité. Contribution à l’histoire de la psychose hallucinatoire chronique et à celle des divisions subjectives

The mediumnistic state played a central role in the history of psychopathology, but it was often ignored or barely commented upon in psychiatric reports. The example of Gilbert Ballet’s introduction of the concept of chronic hallucinatory psychosis in 1911 provides us with a means of determining the social, clinical and epistemiological context at the time and of showing the pregnance concerning the construction of the normal or manic mediumnistic state. In fact, a certain examination of the mediumnistic trance offers elements and a model for a psychopathological approach to subjective, neurotic or psychotic divisions. This recourse to history is justified by the new upsurge of subjective divisions connected with current New age mediumnistic states.     

A deleted chromosome no. 13 in human retinoblastoma cells: relevance to tumorigenesis

In this report of banded karyotypes prepared after short-term culture (72 hr) from human retinoblastoma tumor tissue, one del(13)(pter→q14:) chromosome and one normal chromosome #13 were found in all of the metaphases examined. Similar deletions (always involving 13q14) have previously been described in the somatic cells of individuals with one form of retinoblastoma. In the present case, however, the constitutional karyotype is normal. The presence of tumors in both eyes suggests that this is the genetic form of retinoblastoma, even though the patient's family history is negative for this tumor. The normal constitutional karyotype argues that the chromosome deletion occurred as a postzygotic event. The modal chromosome number of the tumor cells is 47 and rearrangements involving chromosomes #2, #17, and #20 were also identified.