精神分裂症患者的认知康复治疗进展

精神分裂症是一种发病原因不明的重性精神疾病,临床症状主要表现为思维、行为、感知觉以及情感等多个方面的功能障碍,还有不协调的精神活动,一般情况下,患者的意识较为清楚,保有基本正常的智能,但是还有一些患者会出现认知功能的损害,随着病情的反复发作进而加重,会导致患者出现精神残疾等情况,而有些患者在通过治疗后可以维持在基本痊愈或者是痊愈的状态下,维持基本的正常生活状态。     

Investigation on genetic heterogeneity in Duchenne muscular dystrophy

The preliminary results of a study to investigate possible genetic heterogeneity in Duchenne muscular dystrophy (DMD) are reported. Ninety-eight patients have been analyzed: 47 were isolated cases; 51 were familial cases. The patients were divided into three groups (normal intelligence, borderline, and mentally retarded) according to mental capacity and a comparison of clinical evolution (onset of clinical signs and loss of ambulation) as well as serum enzyme activities (creatine-kinase and pyruvate-kinase). In addition intrafamilial correlation analysis was done for the same parameters. The preliminary results did not show a significant difference between DMD patients with normal intelligence and those with mental retardation.     

Gonadoblastoma and fertility.

Most patients with gonadoblastoma have dysgenetic gonads. This rare tumour has been described in three pregnant women. A fourth case in a 26 year old pregnant woman who presented with gonadoblastoma and dysgerminoma, is reported. She had a normal term pregnancy, 46XX chromosomes, normal genitalia, no history of menstrual irregularities and no signs of hyperandrogenism, thereby differing from the other reported cases. The germ cell component of this patient's tumour had undergone rapid overgrowth, most of the tumour comprising pure dysgerminoma. It is suggested that gonadoblastoma may occur in functionally and morphologically normal gonads more often than previous case reports imply.     

Accuracy of estimates of premorbid intelligence based on demographic variables

Regression equations have been presented for estimating premorbid IQs on Wechsler's intelligence scales, using the demographic variables employed to stratify the various standardization samples as predictors. The accuracy of the resulting estimates for classifying patients into Wechsler's seven IQ categories (from very superior to mentally retarded) was evaluated, and it was found that even the best estimates can be expected to misclassify more than half of all patients. Such estimates still can contribute to valid inferences about a patient's premorbid intelligence, but only when they are used in conjunction with information from other sources.     

Translocation (2;7)(p13;q36) in a case of acute nonlymphocytic leukemia evolving from a myelodysplastic syndrome

A case of acute nonlymphocytic leukemia with a new translocation, t(2;7)(p13;q36), as the sole karyotypic abnormality is reported. The patient's leukemia evolved from a cytogenetically normal myelodysplastic syndrome of 4 years' duration. Following treatment the patient entered complete remission with loss of the cytogenetically abnormal clone. Subsequent bone marrow analyses showed recurrence of the myelodysplastic syndrome with a normal karyotype. Although both chromosomes 2 and 7 are known to be involved in nonrandom karyotypic changes in human cancer and leukemia, t(2;7)(p13;q36) has not been reported previously.     

Developmental outcome in Kabuki syndrome

Over the last 20 years, a wide spectrum of congenital anomalies have been described in association with Kabuki syndrome (KS). However, very little information is available on developmental outcome. As more individuals with this syndrome are recognized and reported, it appears that as many as one-sixth may have normal intelligence. The purpose of this report is to describe the developmental outcome in 15 patients with KS, to determine whether a recognizable pattern of disabilities exist, and whether developmental outcome correlates with the presence of malformations. We ascertained 15 patients with KS from three dysmorphology and clinical genetics services in which developmental milestones and formal developmental testing were available. Based on these patients and a review of the literature, in the absence of major structural brain anomalies, the average intelligence quotient (IQ) in patients with this condition fall within the mild mental retardation range, however, specific developmental outcomes are widely variable, ranging from severe MR to normal intelligence. The presence or absence of hearing loss or major malformations, other than those involving the brain, was not predictive of developmental outcome.     

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. © 1996 Wiley-Liss, Inc.     

Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family

We report on the occurence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59–66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance. Am. J. Med. Genet. 76:252–254, 1998. © 1998 Wiley-Liss, Inc.     

Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation

A 75-year-old man with chronic myelomonocytic leukemia was found to have a constitutional t(6;16)(q13;q22) translocation, as did his healthy daughter. Chromosomal in situ hybridization studies of the daughter's lymphocytes did not indicate translocation-mediated interruption of the metallothionein gene cluster, at 16q22, although this locus has been reported to be involved in the eosinophilic variant of acute myelomonocytic leukemia. Lymphocytes from the daughter and from the patient's brother (who had a normal karyotype), had no increased fragility at 16q22. The findings do not provide evidence for an association between the familial chromosome abnormality and this patient's leukemia.     

The effect of glucocorticosteroid treatment on dentine formation in the Lewis rat, a histological study

Glucocorticosteroids are widely used in the treatment of chronic illnesses and have been reported to cause premature obliteration of the pulp space. During the active stages of dentinogenesis, odontoblasts are growth hormone receptor (GHr) positive. The aims of this study were to determine if the glucocorticosteroid, prednisone, affected the rate of dentine deposition and odontoblast expression of GHr in the rat molar. Following subcutaneous injection of 0.05 mg/kg, 1.0 mg/kg or 5.0 mg/kg prednisone for 20 days, immature and mature molars from rats aged 3 and 6 weeks respectively, were examined histologically. Distribution of GHr expression was determined immunohistochemically. No morphological differences were observed in molars from prednisone treated animals. Prednisone did not appear to enhance dentine deposition in immature molars but in mature molars significantly increased dentine deposition on the roof of the pulp chamber at a dosage of 5.0 mg/kg (p < 0.001). In all immature molars, odontoblasts and pulp cells expressed GHr immunoreactivity. In mature molars, odontoblasts and pulpal cells from controls did not show GHr immunoreactivity. However, odontoblasts and pulp cells were GHr immunoreactive in mature molars from animals treated with prednisone.     

高强度玻璃离子材料结合非创伤性充填技术应用于乳牙封闭防龋

背景：以往报道的玻璃离子封闭剂耐磨性能差,抗折强度低,合面封闭剂很容易脱落。 目的：观察在非创伤性充填技术下高强度玻璃离子应用于幼儿乳牙窝沟封闭的效果。 方法：按自身对照的方法,对89名3岁幼儿的左或右半口符合窝沟封闭条件的乳磨牙在非创伤性充填技术下行玻璃离子窝沟封闭,对侧半口符合窝沟封闭条件的乳磨牙作空白对照。 结果与结论：非创伤性充填技术下窝沟封闭后6,18个月,玻璃离子完整保留率为94.15%及77.72%。6个月时牙位脱落率：下颌第二乳磨牙>下颌第一乳磨牙>上颌第二乳磨牙>上颌第一乳磨牙,18个月时牙位脱落率：下颌第二乳磨牙>上颌第二乳磨牙>下颌第一乳磨牙>上颌第一乳磨牙。非创伤性充填技术下玻璃离子封闭的乳牙患龋率远低于未作封闭的乳牙,6,18个月时差异均有显著性意义(P < 0.01)。提示非创伤性充填技术下高强度玻璃离子窝沟封闭在幼儿乳牙中的脱落率低,操作简单,防龋效果肯定。     

Autosomal recessive nonsyndromal microcephaly with normal intelligence

Autosomal recessive microcephaly is usually associated with moderate to severe mental retardation. An apparently new autosomal recessive disorder comprising a characteristic facial appearance associated with microcephaly and normal intelligence, immunodeficiency, and increased risk for lymphoreticular malignancies has been described recently. We report on a large Arab kindred with frequent consanguineous marriages and eight cases in five sibships with microcephaly, peculiar facies, and normal intelligence. Of these cases, two died of an acute lymphoreticular malignancy or bronchopneumonia. Immunological and chromosomal studies carried out for the three affected living sibs were normal. The existence of an autosomal recessive nonsyndromal variant of microcephaly with normal intelligence is proposed and discussed.     

Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues

Mosaic trisomy 18 occurs when two different cell lines exist in the same individual; one cell line has two copies of chromosome 18, while the other has three copies. Here we present two new patients with mosaic trisomy 18, summarize 31 reported cases from the literature, and discuss management and counseling themes. Our first patient is an 8(1/2)-year-old female with normal intelligence and no significant dysmorphic features other than short stature and cubitus valgus. The second patient is a 21-month-old male with developmental delay, several dysmorphic features, including a patent ductus arteriosus, and normal growth. In general, the phenotype of individuals with mosaic trisomy 18 varies greatly. Some individuals have the complete trisomy 18, Edwards syndrome phenotype with early death while others are phenotypically completely normal. The latter group is exemplified by four normal appearing adults with mosaic trisomy 18 who were identified only after giving birth to children with complete trisomy 18. Further, a wide range of anomalies have been reported, most at low frequencies, including microcephaly, delayed bone age, brachydactyly, congenital heart defects, developmental delay, short stature, and premature ovarian failure. Intellectual capabilities range from profound mental retardation to above average intelligence. There appears to be no correlation with the percentage of trisomic cells in either fibroblasts or leukocytes and the individual's phenotype or intellectual function. We also discuss a variety of counseling issues including long-term survival, reproductive capacity of individuals with mosaic trisomy 18, and recurrence risks.     

Duplication of the STS region in males is a benign copy-number variant

Copy-number variants (CNVs) are a common finding in the human genome, with copy gains occurring at a higher frequency than losses in several databases of genomic variants in normal individuals. Copy gains of the steroid sulfatase (STS) gene have been seen in both males and females. Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear, with the duplication reported in individuals with abnormal phenotypes and normal relatives. We identified 72 males submitted to our laboratory for microarray-based comparative genomic hybridization with duplications in the STS region (chrX:6,465,812-8,093,195). In 40 (56%) patients, maternal blood was available, and the duplication was found to be inherited from the patient's apparently phenotypically normal mother in each of the 40 patients. We also identified three females who inherited a duplication of the STS region from phenotypically normal fathers, and a phenotypically normal uncle who had the same duplication as his nephews. In the remaining cases the inheritance could not be confirmed owing to lack of parental samples available for testing. Of the 72 subjects, 10 (14%) had an additional CNV elsewhere in the genome known to be clinically significant and likely causative of the patient's presenting symptoms. Based on the frequency with which duplications have been identified in clinically normal and abnormal individuals, we suggest a gain of STS in males is a population variant and unlikely to be clinically significant.     

Decision-making and cognitive abilities: A review of associations between Iowa Gambling Task performance,executive functions,and intelligence

The Iowa Gambling Task (IGT) has been used to study decision-making differences in many different clinical and developmental samples. It has been suggested that IGT performance captures abilities that are separable from cognitive abilities, including executive functions and intelligence. The purpose of the current review was to examine studies that have explicitly examined the relationship between IGT performance and these cognitive abilities. We included 43 studies that reported correlational analyses with IGT performance, including measures of inhibition, working memory, and set-shifting as indices of executive functions, as well as measures of verbal, nonverbal, and full-scale IQ as indices of intelligence. Overall, only a small proportion of the studies reported a statistically significant relationship between IGT performance and these cognitive abilities. The majority of studies reported a non-significant relationship. Of the minority of studies that reported statistically significant effects, effect sizes were, at best, small to modest, and confidence intervals were large, indicating that considerable variability in performance on the IGT is not captured by current measures of executive function and intelligence. These findings highlight the separability between decision-making on the IGT and cognitive abilities, which is consistent with recent conceptualizations that differentiate rationality from intelligence.     

X/XY mosaicism with short Y

A case of 45, X/46, XY mosaicism is reported in an infant with ambiguous penitalia. The patient's Y long arm is shorter than the father's one and has no bright fluorescence nor intensively Giemsa-stained distal part. The paternal Y chromosome is normal but the light fluorescent and the pale Giemsa stained part of the long arm is shorter than the patient's Y. A complex chromosomal rearrangement is then more probable than a simple deletion.     

Tremor,ataxia and dementia in older men may indicate a carrier of the fragile X syndrome

Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence and the pre-mutation carrier state of the fragile X syndrome. We have shown, by means of a telephone survey, that this association is probably causal rather than coincidental. These findings have uncovered another testable cause of late-onset neurological symptoms in males, which also has serious genetic implications for their daughters who are at risk of having sons with full mutations causing mental handicap - the fragile X syndrome.     

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?

We report on an Ethiopian female with generalized overgrowth of postnatal onset accompanied by progressive and symmetric overgrowth of skeletal and soft tissues. Her phenotype consisted of progressive and symmetric overgrowth of the supraorbital ridges, glabella, occiput, cervical spine, and distal phalanges of all extremities, but particularly the 3rd and 4th digits. She also has overgrowth of soft tissues of the posterior neck (thought to be fatty in origin), alveolar hyperplasia, and overgrowth of the skin comprising the areola and umbilicus. Other clinical findings included obstructive sleep apnea and normal intelligence. A genetic workup of extended banding chromosome analysis and chromosomal microarray were normal, as were PTEN and FNLA mutation analyses. Histologic examination of the excised supraorbital ridges demonstrated normal bone. However, the bone began to regrow in a symmetric fashion within 3 months of removal. This patient's phenotype is at variance with any known overgrowth syndrome.     

Antibody Mimicking an Anti-E Antibody That Binds to Patient's E Negative Red Cells

We have reported a rare case of auto anti-E antibody with specificity mimicking alloantibody with E specificity. A patient whose red cells typed as R1R1 and who had a positive direct antiglobulin test was admitted to our hospital. After standard serologic testing was performed, flow cytometry, Western blot analysis and differential allogenic adsorption test were used to verify whether antibody binds to the patient's red cells and normal red cells. A high titer anti-E antibody was detected transiently from the patient's serum and eluate. An indirect antiglobulin test using red cells treated by cysteine-activated papain and dithiothreitol (ZZAP) and chloroquine showed that both the patient's serum and eluate bound an apparent anti-E antibody to E negative patient's red cells. Fluorescence activated cell sorter (FACS) and Western blot analysis verified that the patient's red cells lacked E antigen. Further, it was clarified that the antibody does not bind to any E negative normal red cells by differential allogenic adsorption test. These results provide evidence that an antibody mimicking an E alloantibody can bind to patient's own E negative red cells but not to allogenic E negative red cells.