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Richard M. Pauli Marc S. Williams Kevin D. Josephson G. S. Tint 《American journal of medical genetics. Part A》1997,68(3):260-262
We have reassessed patient “S,” one of the first 3 individuals recognized to have Smith-Lemli-Opitz (or RSH) syndrome, at age 34 years, and we describe his physical, developmental, and behavioral manifestations. This reassessment provides formal evidence that this individual has the cholesterol biosynthetic defect which is thought to be the cause of Smith-Lemli-Opitz syndrome. Dietary manipulation appears to have had a beneficial effect on the patient's behavior and suggests that even in adults with this condition, dietary cholesterol supplementation may be indicated. Am. J. Med. Genet. 68:260–262, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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H. M. Frost 《Anatomical record (Hoboken, N.J. : 2007)》1987,219(1):1-9
The observed fit of bone mass to a healthy animal's typical mechanical usage indicates some mechanism or mechanisms monitor that usage and control the three longitudinal growth, bone modeling, and BMU-based remodeling activities that directly determine bone mass. That mechanism could be named a mechanostat. Accumulated evidence suggests it includes the bone itself, plus mechanisms that transform its mechanical usage into appropriate signals, plus other mechanisms that detect those signals and then direct the above three biologic activities. In vivo studies have shown that bone strains in or above the 1500–3000 microstrain range cause bone modelling to increase cortical bone mass, while strains below the 100–300 microstrain range release BMU-based remodeling which then removes existing cortical-endosteal and trabecular bone. That arrangement provides a dual system in which bone modeling would adapt bone mass to gross overloading, while BMU-based remodeling would adapt bone mass to gross underloading, and the above strain ranges would be the approximate “setpoints” of those responses. The anatomical distribution of those mechanical usage effects are well known. If circulating agents or disease changed the effective setpoints of those responses their bone mass effects should copy the anatomical distribution of the mechanical usage effects. That seems to be the case for many agents and diseases, and several examples are discussed, including postmenopausal osteoporosis, fluoride effects, bone loss in orbit, and osteogenesis imperfecta. The mechanostat proposal is a seminal idea which fits diverse evidence but it requires critique and experimental study. 相似文献
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Robert L. Spitzer 《Clinical psychology》1994,1(1):88-92
Lilienfeld et al's critique of the use of the term comorbid in psychopathological research is critically examined. They are incorrect in asserting that the original use of the term in medical epidemiology was intended to restrict it to disease entities. Furthermore, the ways in which medical comorbidity can be understood apply equally well to understanding the comorbidity of psychiatric or psychological disorders. Just as it has been useful to use the general term psychiatric disorders to include symptom patterns and syndromes and few If any true diseases, so to it is useful to apply the generic term of comorbidity to the joint occurrence of psychiatric disorders. Because methodological factors can sometimes contribute to artifactual comorbidity which is uninformative about the disorders being studied is no reason to abandon the term comorbidity in psycho-pathological research. 相似文献
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In this article, we review and evaluate changes in the depressive disorders section from DSM‐IV to DSM‐5. We describe characteristics of three new depressive disorders: disruptive mood dysregulation disorder, premenstrual dysphoric disorder, and persistent depressive disorder. We also discuss the controversial decision in DSM‐5 to remove the bereavement exclusion from the criteria for major depressive disorder. Next, we review the decision to replace the diagnosis of depressive disorder not otherwise specified with two new diagnoses: other specified depressive disorder and unspecified depressive disorder. Finally, we discuss the inclusion of two novel specifiers in the DSM‐5 depressive disorders section: “with anxious distress” and “with mixed features.” For each of these changes, we examine the relevant research and discuss implications of the changes for research and clinical practice. 相似文献
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Rivka Carmi Joann A. Boughman Charlotte Ferencz 《American journal of medical genetics. Part A》1992,43(3):569-575
The isolated occurrence of endocardial cushion defect (ECD) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated cardiovascular malformations. Analysis of data derived from the Baltimore-Washington Infant Study of congenital cardiovascular malformations supports the observation that “syndromic” ECD tends to be of the complete atrioventricular canal type and is less frequently associated with left cardiac anomalies than the isolated form. However, each syndrome has a unique impact on the overall cardiovascular “phenotype,” including the ECD. This is especially true for Down and Ivemark syndromes, which are most frequently associated with ECD, but also for other syndromes as well. It is also suggested that isolated ECD is specifically associated with gastrointestinal and urinary tract anomalies. However, in Down syndrome ECD appears to be a specific cardiovascular expression of the trisomic state that is unrelated to other noncardiac malformations. Additional information on the association of ECD with other less common genetic syndromes is needed in order to further investigate the possible genetic basis of this cardiac defect. © 1992 Wiley-Liss, Inc. 相似文献
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Presentence evaluations conducted by psychologists and psychiatrists (clinicians) and correctional counselors (caseworkers) were subjected to multiple regression analyses in order to specify the relative contribution of inmate characteristics (offense severity and recidivism probability) and decision maker response biases to sentencing recommendations. Although both groups of decision-makers showed a response bias effect for cases that were difficult to discriminate, the effect was generally lerger for chnicians than for caseworkers. Response bias (lenient vs. punitive) was not associated with type of clinical judgment model (linear vs. configural) or predictability of recommendation, although it was associated with the degree of relative weighting of the two independent variables and, in the case of extremely punitive decision-makers, with the tendency to utilize only one evaluative dimension (offense severity) to the exclusion of the other. Furthermore, it was found that inmates who committed the most serious offenses were exposed selectively to those decision-makers most likely both to place exclusive emphasis on offense severity and to recommend relatively punitive case dispostions. The need for an accountability system designed to minimize the effects of the response biases of correctional decision-makers was discussed. 相似文献
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“Rigid-rod” telechelics were synthesized via repetitive Diels-Alder reaction of biscyclohexadienes and bis(1,2,4-triazoline-3,5-diones). The bistriazolinediones were used in slight excess. The rigidity of the building blocks and the molecular weight were varied. Various amounts of these reactive telechelics are used to crosslink cis-1,4-polybutadiene. The mechanical and the thermal properties of these two-component networks were investigated by stress-strain, differential scanning calorimetry and dynamic-mechanical measurements. The occurrence of microphase separation between the “rigid” and the “flexible” components is discussed to explain the properties of these materials. 相似文献
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W. B. Hanley A. W. Lee A. J. G. Hanley D. C. Lehotay V. J. Austin W. E. Schoonheyt B. A. Platt J. T. R. Clarke 《Molecular genetics and metabolism》2000,69(4):286
It has been postulated that the significant incidence of learning disabilities in well-treated patients with phenylketonuria (PKU) may be due, in part, to reduced production of neurotransmitters as a result of deficient tyrosine transport across the neuronal cell membrane. Hypotyrosinemia has been reported in treated and untreated PKU but virtually no data are available. We decided to examine this in our patient population and to compare it with the published norms, patient data from our hospital clinical biochemical laboratory database, and a group of normal children and adolescents in a private pediatric practice. We found that the mean nonfasting plasma tyrosine in 99 classical PKU patients was 41.1 μmol/L, in 26 mild (atypical) PKU patients 53.3 μmol/L, and in 35 non-PKU mild hyperphenylalaninemia patients 66.6 μmol/L. This compared to nonfasting plasma tyrosine levels in 102 non-PKU subjects of 64.0 μmol/L in our hospital biochemistry database, 69.1 μmol/L in 58 volunteers in the private office practice, and 64–78.8 μmol/L in infants, children, and adolescents in the literature review. Our data support the previously undocumented statements in the literature that plasma tyrosine levels are low in PKU. 相似文献
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Rupal I. Mehta MD Aaron R. Cutler MD Joseph L. Lasky III MD William H. Yong MD Jason T. Lerner MD Brandon K. Hirota MD Noriko Salamon MD Gary W. Mathern MD Harry V. Vinters MD 《Human pathology》2009,40(11):1661-1665
We report the case of an 8-year-old boy who presented with a 2-month history of headaches and mild visual impairment and was found to have a medulloblastoma with primary leptomeningeal involvement. No mass lesion was found on imaging studies, during subsequent intraoperative surgical inspection or at autopsy. The pathologic findings were first documented on cerebrospinal fluid cytologic examination and biopsy of the cerebellum and were later confirmed at necropsy. To our knowledge, this is the third reported case of medulloblastoma identified with primary leptomeningeal involvement without a cerebellar mass and the first such case with documented autopsy findings. 相似文献
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The muscle fibers in the accessory flexor muscle of the crab were examined with the electron microscope. The limiting membrane of the muscle fiber invaginates at many points to form an internal extrafibrillar membranous system between the muscle fibrils. Two types of muscle fiber were found. In one, the fibrils are well separated from each other by an extensive membranous system, the sarcomere lengths are short, and the filaments in the A band are thick. This muscle fiber is the same as the fast fiber previously found physiologically. The other type of muscle fiber has large fibrils poorly separated by a relatively scant system of internal membranes. It has relatively long sarcomeres and comparatively thin filaments in the A band. This type of fiber is the same as the slow fibers described physiologically. Fibers intermediate in type are also found. Nerve terminals with typical synaptic vesicles occur and appear similar on both types of muscle fiber under the electron microscope. Membrane thickenings of nerve ending and muscle fiber also occur at the terminals on both types of muscle fiber. The nerve terminals on the fast fiber are much more easily found and hence more numerous than on the slow fiber. A comparison is made between the invertebrate and vertebrate fast and slow fibers, and some physiological implications of these findings are discussed. 相似文献
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