Study on the Relationship between Cytogenetics and Phenotypic Effect in Turner＇s Syndrome

ＳｔｕｄｙｏｎｔｈｅＲｅｌａｔｉｏｎｓｈｉｐｂｅｔｗｅｅｎＣｙｔｏｇｅｎｅｔｉｃｓａｎｄＰｈｅｎｏｔｙｐｉｃＥｆｆｅｃｔｉｎＴｕｒｎｅｒ＇ｓＳｙｎｄｒｏｍｅＨＵＸｉａｏｆｅｎｇ（胡晓峰）；ＺＨＵＢａｏｓｈｅｎｇ（朱宝生）；ＬＩＮＨａｎｈｕａ（林汉华）...     

Nutrition et fonction immunitaireNutrition and immune function

A deficiency of total energy or of one or more essential nutrients, including vitamins A, B₆, B₁₂, C, and E, folic acid, zinc, iron, copper, selenium, essential amino acids and essential fatty acids, will impair immune function and increase susceptibility of the host to infectious pathogens. This is most likely because these nutrients are involved in the molecular and cellular responses to challenge of the immune system. Providing these nutrients to deficient individuals restores immune function and improves resistance to infection. Thus, appropriate nutrition is required in order for the host to maintain adequate immune defences towards bacteria, viruses, fungi, parasites and tumour celîs. Although the intakes of several nutrients which result in greatest enhancement of immune function appear to be greater than recommended intakes, excess intake of certain nutrients also impairs immune responses. Some nutrients (e.g. glutamine, arginine) may become limiting in critical illness and there is mounting evidence that provision of these will aid patient recovery.     

Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker chromosomes, and thereby provide better understanding of the clinical significance of these.     

Mutagenicity of benzo(a)pyrenyl-1-sulfate in the Ames test.

Comparison of the mutagenicity of nine isomeric benzo(a)pyrenyl [B(a)P] phenols conjugated with either sulfate or glucuronide was carried out using strain Salmonella typhimurium TA98. Of the nine conjugates tested, only B(a)P-1-sulfate was mutagenic. Accordingly, the mutagenicity of B(a)P-1-sulfate was compared with that of B(a)P and 1-hydroxybenzo(a)pyrene [B(a)P-1-OH] in the presence and absence of rat lung S9 and Aroclor-induced liver S9 with and without an NADPH-generating system. B(a)P-1-sulfate was slightly mutagenic, whereas B(a)P and the 1-hydroxy derivative were nonmutagenic when S9 fractions and NADPH were omitted. Addition of induced liver S9 with NADPH caused mutagenicity with B(a) -1-OH greater than B(a)P greater than B(a)P-1-sulfate. B(a)P-1-sulfate was the only mutagenic species when lung S9 was added. This mutagenicity did not require NADPH. Sodium sulfite, an inhibitor of arylsulfatase, decreased the mutagenicity of B(a)P-1-sulfate. These data suggest that a unique mutagenic species is generated from B(a)P-1-sulfate via arylsulfatase in rat lung.     

Widenings of the myelin lamellae in a typical Guillain–Barré syndrome

The so-called “widenings of the myelin lamellae” are thought to be specific ultrastructural features of peripheral nerve myelin in patients with peripheral neuropathy associated with a monoclonal dysglobulinemia of IgM type and antiglycolipid activity. We report here a case of Guillain–Barré syndrome with no evidence of serum monoclonal dysglobulinemia, presenting the typical widenings of the myelin lamellae in small-diameter myelinated fibers from a sural nerve biopsy. In view of the positive reaction with anti-C3d complement on direct immunofluorescence, an immunological mechanism may be involved in the widenings of the myelin lamellae. © 1994 John Wiley & Sons, Inc.     

Identifying incident cases of parkinsonism among veterans using a tertiary medical center.

To better understand the impact of incident Parkinson's disease (PD) on the Veteran's Health Administration (VHA) and to develop methods applicable to future epidemiological research, we performed a medical record review study at a tertiary referral VHA medical center. Searching the local data base, we identified 782 veterans with diagnostic codes for PD or secondary parkinsonism (SP) between 1998 and 2000. Based on structured medical record review, a movement disorders specialist confirmed diagnoses for incident parkinsonism cases. Among the 782, 191 incident parkinsonism cases were identified (100 PD, 75 SP, and 16 Parkinson's Plus). Incident PD cases were older at diagnosis (74.5 vs. 70.4 yr; P < 0.05) and more likely to be white (81% vs. 62; P < 0.07) than incident SP cases. Diagnostic codes were insufficient to distinguish between incident PD and SP (positive predictive value, 57% and 39%, respectively), and VHA sources failed to identify 21% of confirmed deaths among the incident PD cohort by November 2004. Although the large number of incident cases identified suggests PD is an important cause of disability among elderly VHA users, observed limitations of VHA sources for identifying incident PD cases and determining their vital status should be considered when designing future studies.     

Sry监测体外扩增造血细胞植入效果的实验研究

目的：探讨Y染色体性别决定基因(Sry)作为评价和追踪造血细胞移植后植入状态检测指标的可行性。方法：根据Sry DNA序列设计引物及制备探针，然后进行PCR检测、斑点杂交和原位杂交．动态追踪经不同条件下体外扩增的纯系雄性小鼠BMMNC回输至雌性小鼠后的植入状态。结果：PCR结果显示在各移植组小鼠的骨髓有核细胞、脾细胞及外周血白细胞中均有Y染色体特异性序列的存在；斑点杂交结果显示在各回输组间并无明显差别，但用脾脏组织作原位杂交的结果则发现基质细胞支持扩增回输组的阳性颗粒数目与输注新鲜细胞组相似，但略少于雄性小鼠；而输注细胞因子扩增细胞实验组小鼠则明显少于雄性动物的阳性对照标本和基质细胞支持扩增回输组。结论：(1)经重复检测表明上述方法的重复性好，结果可信．可作为检测性别不同时造血干细胞移植效果的一种检测手段；(2)证实基质细胞支持下的体外扩增的造血细胞具有较好的植入能力。     

Second case report of del(4) (q25q27) and review of the literature

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.     

Hypothesis: association of the critical region of trisomy 18 and 18q2—syndrome with dermatoglyphic findings and a growth suppressor (deleted in colon cancer) locus

Evidence from the literature is reviewed to suggest that when fingertip dermal ridge patterns in chromosomal deletion syndromes are characteristic of the opposite spectrum of the developmental scale from patterns found in cases trisomic for the same chromosomal region, the association may be a consequence of loci with growth regulatory functions. Evidence is presented that DNA markers at 18q21 should be the first candidate sequences to be used to test this hypothesis in families with fingertip arches segregating in an apparent autosomal dominant fashion.