Sex difference in age at onset of schizophrenia: discrepant findings from India

Consecutive male (n=100) and female (n= 100) DSM-IV schizophrenics newly registered for treatment in a large psychiatric hospital were examined with regard to age at onset of the first psychotic symptom. Age at onset of the first psychotic symptom did not differ between the sexes regardless of whether schizophrenia was diagnosed by DSM-IV or by several alternative systems. Age at onset defined by other criteria, namely age at first contact with a physician, and age at first admission for psychiatric care, also did not show any differences between the sexes. Survival analysis of subjects having a documented date of birth revealed a female preponderance at younger ages. A higher positive symptom score predicted older age at onset of the first psychotic symptom in the total sample. These findings call into question the universality of the traditional view of a younger age at onset of schizophrenia among males. Tentative neurodevelopmental and cultural explanations are presented to explain why there is no sex difference in age at onset of schizophrenia in India.     

Single 5'green-3'red Hybrid Gene in Protanopia

Purpose: To disclose the structure of visual pigment gene for a protanopia with specific variation.Methods: Exon 5 fragments of the red andgreen visual pigment genes from the protanopia with specific varnation as well as controls were amplified by poly-merase chain reaction (PCR). The PCR products were put through heteroduplex-SSCP analysis and PCR-RFLP (restriction fragement length polymorphism) analysis to clarify the specific variation. The specific variation of the exon 5 DNA fragment from the protanopia was identified by sequencing.Results: A novel 5'green-3'red hybrid gene fragment without the normal red and green visual pigment gene was discovered in the protanopia. He should only have a single visual pigment gene, 5'green-3'red hybrid gene, on his X chromosome. The fusion point is between codon 285 and codon 296 in exon 5. Conclusion : Unequal intragenic recombination may occur in exon 5 as well as its upstream. A 5'green-3'red hybrid gene may present independently on the X chromosome without ac     

Sex and Intrauterine Position Influence the Size of the Gerbil Hippocampus

Sex differences in home range size and spatial ability are predictive of sex differences in the relative size of the hippocampus in rodents. Such differences in behavior and hippocampal volume are presumed to be, in part, the result of differences in perinatal exposure to hormones. We predicted from differences in the size of home ranges of male and female Mongolian gerbils (Meriones unguiculatus) in the wild that the hippocampus of male gerbils would be relatively larger than that of females. We examined the effect of prenatal hormonal influences on hippocampal size by comparing hippocampal volume of males and females from 2F and 2M intrauterine positions to that of randomly selected males and females. We found that, as predicted, randomly selected males had a significantly larger hippocampus, relative to telencephalon, than did randomly selected females. However, males and females from 2F and 2M intrauterine positions did not differ in relative hippocampal size. Possible explanations for the absence of a sex difference in hippocampal size in male and female gerbils from 2F and 2M intrauterine positions are discussed.     

肝脏子宫内膜异位症一例

肝脏子宫内膜异位症是以肝内存在异位子宫内膜为特征的一种罕见子宫内膜异位症类型,因其缺乏典型临床症状且影像学诊断困难,易被误诊,组织学检查目前仍是肝脏子宫内膜异位症诊断的金标准。现报告1例海军军医大学第三附属医院收治的患者,反复经期右上腹疼痛,经超声检查发现右肝占位性病变,术后病理证实为肝脏子宫内膜异位症。     

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel. We found no examples of patients with GNAT2 mutations. Out of 36 achromats, 12 (33%) had mutations in CNGA3 (13 different mutations including five novel mutations) and 12 (33%) had mutations in CNGB3 (six different mutations including four novel mutations). All achromats with CNG mutations had residual, presumably cone function as determined by computer-averaged 30-Hz electroretinograms (ERGs). There was considerable variability in acuity and color vision, with most patients having acuities of 20/200-20/400 and complete absence of color perception, and others having acuities of 20/25-20/40 and some color vision. Two pseudodominant achromatopsia cases were uncovered, both with CNGA3 mutations, including one family in which some compound heterozygotes with achromatopsia mutations were clinically unaffected. We found two novel CNGB3 changes in three patients with juvenile macular degeneration, a phenotype not previously associated with mutations in the cone channel subunits. These patients had subnormal acuity (20/30-20/60), normal to subnormal color vision, and normal to subnormal full-field cone ERG amplitudes. Our results indicate that some patients with channel protein mutations retain residual foveal cone function. Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration.     

Comparing non-hierarchical models: Application to non-linear mixed effects modeling

There is no method available to compare the fit of two non-hierarchical non-linear mixed effects models, although the common practice is to select the model with the lower objective function. Bootstrapping the log-likelihood differences (LLDs) of non-hierarchical models and constructing a bootstrap confidence interval on the LLDs is proposed for comparing the goodness-of-fit of such models. This is illustrated with different parameterizations of clearance models for an anti-infective agent in a longitudinal pharmacokinetic study which are compared. Additive and exponential models of creatinine clearance as a predictor of clearance are used as examples.     

513例住院精神分裂症患者临床特点的性别差异

目的 :比较男性及女性精神分裂症住院病人的起病年龄、症状特点、病程演变特点及社会功能等指标的差异。方法 :选择 5 13例住院精神分裂症患者 ,详细收集临床资料 ,并进行《阳性及阴性症状评定量表》 (PANSS)及《大体功能量表》 (GAF)的评定 ,以此为依据进行性别间的比较分析。结果 :(1)总体上看 ,男性患者的起病年龄 (2 5 6± 7 3岁 )显著早于女性患者 (2 7 5± 8 6yrs) (P <0 0 1) ,但有家族史的患者间起病年龄差异不显著 (2 6 3± 6 9岁vs 2 6 8± 8 4岁 ) ;与男性相比 ,女性患者具有如下倾向 :症状模式较多为持续阳性症状 ,多为发作性波动或轻度恶化病程 ,阳性及情感症状更明显 ,且未婚或离婚的比例(5 3 9% )显著低于男性 (67 2 % )。结论 :男性及女性精神分裂症患者在发病年龄、症状特点及病程转归等多方面均存在显著差异 ,提示在制定治疗康复方案方面 ,应有所区别     

Effects of vasopressin on water and NaCl transport across the in vitro perfused medullary thick ascending limb of Henle's loop of mouse,rat, and rabbit kidneys

Direct tubular effects of arginine vasopressin (AVP) on water and NaCl transport across the medullary thick ascending limb of Henle (MAL) were examined by the in vitro perfusion of isolated nephron fragments of mice, rats, and rabbits. Osmotic water permeability of the MAL of mice and rats was low and remained unchanged with 2 mU/ml AVP added to the bath. A dose-dependent increase in transepithelial electrical potential difference (PD) with AVP was observed in the mouse MAL when the ambient medium was isotonic. A similar result was also obtained when 2×10^–4 mol/l dibutyryl adenosine 3,5-cyclic-monophosphate was added to the bath. In this preparation, AVP also caused an increase in the unidirectional Cl efflux from 323±45 to 398±61 pmoles·mm^–1 ·min^–1 (n=6,P<0.05). In contrast, under similar condition, we could not demonstrate any effect of AVP on PD, Cl efflux, or net Na flux in the rat MAL and on PD and Cl efflux in the rabbit MAL. Both PD and Cl efflux in the rat MAL were unaffected by AVP when the perfusate was made hypotonic. However, when the ambient medium was made hypertonic by adding NaCl and urea, a significant increase in PD was observed. In addition, we confirmed that AVP stimulated adenylate cyclase activity in the MAL as well as in the collecting tubule of mice and rats. We conclude that AVP stimulates Cl transport across the MAL of mice and rats by activating adenylate cyclase-cyclic AMP system. However, this effect of AVP may quantitatively vary among species.     

Towards unlimited colors for fluorescence in-situ hybridization (FISH)

We describe a FISH protocol that allows rehybridization of complex DNA probes up to four times to the same specimen. This strategy, which we termed ReFISH, opens a wide range of new applications to conventional band pass filter epifluorescence microscopy. These include M-FISH karyotyping and cross-species color banding that emulate multiplex probe sets labeled with up to 12 fluorochromes in sequential hybridizations to the same specimen. We designed a human 24-color karyotyping probe set in combination with a 29-color cross-species color banding probe set using gibbon painting probes. Applying the ReFISH principle, 53 painting probes on individual metaphases were discriminated. This allowed simultaneous screening for inter- and intrachromosomal rearrangements on normal human diploid cells, a HeLa derived cell line, and highly rearranged gibbon chromosomes. Furthermore, the present ReFISH experiments successfully combine 24-color FISH with laser scanning confocal microscopy to study the 3D organization of all 46 human chromosome territories in individual interphase cell nuclei.     

Sources of behavioral deviation modeled by early color preferences in quail. III. Developmental stability and normative canalization

Successful artificial selection of quail (C. coturnix japonica) for divergent early approach preferences for, and imprintabilities to, the wavelength characteristics of otherwise identical visual stimuli decreased the trait's developmental stability. The developmental error that resulted from selecting for extreme initial preferences was associated with enhanced imprintabilities. Conversely, the developmental error that resulted from selecting for extreme imprintabilities was associated with enhanced expression of directional gene effects in extreme initial preferences. The data are attributed to selectively relaxed normative canalization of trait development, and to related enhanced expression of genetic, environmental, and stochastic influences in trait deviations.