Genetic and environmental risk factors for Parkinson's disease in a Chinese population

An epidemiological study of the environmental and genetic factors as well as the possible interplay between them was conducted among 215 patients with Parkinson's disease and 313 controls in a Chinese population in Hong Kong. In univariate analysis, a regular tea drinking habit was found to be a protective factor, which had not been reported before. Smoking (a protective factor), family history, duration of pesticide exposure (in years) in farming and pesticide exposure during farming in women (both risk factors) have been reported previously. In multivariate analysis, current smoking reached borderline significance at the 5% level and the variables, years exposed to pesticides and family history were significant at the 10% level. By contrast with the common occurrence of polymorphism of the CYP2D6 gene (a gene involved with xenobiotic metabolism) in white people, it is very rare in China and is not thought to be a significant factor contributing to Parkinson's disease in Chinese people.     

Use of the 1997 American Diabetes Association diagnostic criteria for diabetes in a Hong Kong Chinese population

OBJECTIVE: Recently, the American Diabetes Association (ADA) has proposed revised diagnostic criteria for diabetes. Lowering of the fasting plasma glucose (FPG) cutoff value is intended to reduce the discrepancy with the 2-h plasma glucose (PG) cutoff value and to encourage the use of FPG. We have applied these new criteria to data collected from a population-based prevalence survey in Hong Kong Chinese subjects of working age. RESEARCH DESIGN AND METHODS: The results of 1,513 oral glucose tolerance tests (OGTTs) from a previously published prevalence survey of glucose intolerance and cardiovascular risk factors in a Hong Kong Chinese working population were reexamined using the new criteria. Of the 1,513 subjects, 27 had a known history of diabetes. Of the remaining 1,486 subjects, 228 were also selected randomly for a second OGTT without prior knowledge of the result of the first test. RESULTS: After exclusion of the 27 subjects with a known history of diabetes, the crude prevalence of diabetes was 2.83% (n = 42) when the World Health Organization's (WHO) criteria were applied. When the criterion of FPG > or = 7.0 mmol/l was used, as recommended by the ADA, the prevalence of diabetes was 1.41% (n = 21). Twenty-nine subjects (1.95%) with FPG < 7.0 mmol/l had a 2-h PG > or = 11.1 mmol/l. Eight subjects (0.53%), previously without a diagnosis of diabetes according to the WHO criteria (FPG < 7.8 mmol/l and 2-h PG < 11.1 mmol/l), had FPG between 7.0 and 7.8 mmol/l and were classified as having diabetes by the ADA criteria. This classification gave a net change of -1.42% in the prevalence of diabetes between the use of FPG > or = 7.0 mmol/l alone and the use of WHO criteria. Among the 1,486 subjects with no known history of diabetes, those classified as having diabetes according to the ADA FPG criterion alone had higher HbA1c and fructosamine levels than diabetic subjects defined by the WHO criteria. Of the 228 subjects for whom two FPG measurements were available, those who had consistent definitions (diabetes, impaired fasting glucose, normal fasting glucose) on both occasions were considered to have reproducible tests, giving an overall reproducibility of 90.8% (207 of 228). CONCLUSIONS: Compared with the WHO criteria, the use of FPG to diagnose diabetes, as recommended by the ADA, was a more reproducible test and identified those subjects who had a greater degree of hyperglycemia. Although lowering of the cutoff value from 7.8 to 7.0 mmol/l increased the number of diagnoses among subjects with low FPG, the omission of the 2-h PG would lead to fewer subjects having their diabetes diagnosed.     

New classification and diagnostic criteria for diabetes mellitus

The new Classification and Diagnostic Criteria for Diabetes Mellitus (DM), prepared by a group of experts from the American Diabetes Association is presented and analyzed. On an etiopathogenic basis, it designates Insulin Dependent and Non Insulin Dependent as Type 1 and Type 2 respectively. It specifies DM having specific known causes. It maintains Gestational Diabetes and Glucose Intolerance and adds the Impaired Fasting Glucose Condition. It recommends fasting plasma glucose for search and diagnosis, and lowers the level to > or = 126 mg/dl instead of > or = 140 mg/dl, due to its association with chronical complications of DM. It maintains the diagnostic criteria of random and post charge glycemia > or 200 mg/dl. It does not alter the glucose intolerance figure (140-200 mg/dl in OGTT) and introduces fasting abnormality > or = 110 and < 126 mg/dl. It encourages the search with fasting glucose every 3 years in individuals aged over 45, and at more frequent intervals in younger individuals with high risk factors. Analysis of the report allows to conclude that, although the classification does not introduce any significant change in daily clinical use, its pathogenic orientation makes future innovations possible. The preferential use of fasting glucose > or = 126 mg/dl for diagnosis of DM has theoretical basis and practical advantages. Identification of individuals with impaired fasting glucose allows to detect, in a simple manner, a high risk group in which to start preventive measures. However, there is a percentage of cases which are not diagnosed by fasting glycemia, but are diagnosed by OGTT, therefore the latter should not be discarded.     

A scientific rationale for protective therapy in Parkinson's disease

The desire to introduce neuroprotective therapy for Parkinson's disease has begun to focus attention on pathogenetic mechanisms responsible for cell death. Considerable theory and some evidence have now accumulated to suggest that factors related to oxidative stress, mitochondrial bioenergetic defects, excitatory neurotoxicity, calcium cytotoxicity, and trophic factor deficiencies acting either singularly or in combination may contribute to the development of cell death in Parkinson's disease. A better understanding of the specific pathogenetic mechanism involved in cell degeneration might provide a scientific basis for testing a putative neuroprotective therapy. This chapter reviews the theory and evidence in support of these different mechanisms and possible strategies that might provide neuroprotection and interfere with the natural progression of Parkinson's disease.     

The controversy regarding diagnostic criteria for early myoclonic encephalopathy

To re-evaluate the diagnostic criteria for early myoclonic encephalopathy (EME), the following study was done. During the past 2 years, five patients with erratic, fragmentary myoclonus of neonatal onset, in association with other types of seizures, were analyzed with regard to etiologies, electroclinical features and their evolution, using a series of examinations including electroencephalographies (EEGs) and metabolic investigations. Of these five patients, three were diagnosed to have non-ketotic hyperglycinemia (NKH); one was pyridoxine-dependent; the other was cryptogenic. Only two cases (one NKH and one cryptogenic) had initial typical suppression-burst (S-B) EEG pattern, which subsequently evolved into multiple paroxysmal abnormalities with random asynchronous attenuation (MP-AA) pattern. The other two cases with NKH had MP-AA EEG pattern throughout both awake and sleep recordings in two consecutive EEG studies. All three cases with NKH survived with increasing microcephaly, muscle tonicity; all developed infantile spasm with hypsarrhythmia on EEGs. The patient with pyridoxine-dependency had an initial MP-AA EEG pattern, which converted into S-B pattern after the first use of pyridoxine, eventually becoming normal after a supplement with the second-dose of pyridoxine. In conclusion, either S-B or MP-AA pattern may reflect the severity of the underlying pathologies or the disease stages. These results suggest that, from both etiological and electroclinical viewpoints, EME may represent a broader spectrum than previously recognized. The still ongoing controversy regarding whether the S-B pattern should be recognized as the sole EEG criteria for the diagnosis of EME needs further experience to clarify.     

New diagnostic criteria in Marfan syndrome

Marfan's syndrome is a relatively frequent autosomal dominant condition which is due to structural or quantitative changes in a connective tissue protein, fibrillin. The syndrome is associated with life-threatening changes in the aorta and serious manifestations in many different organ systems. Unclear diagnostic criteria and lack of use of the criteria in clinical practice may have led to overdiagnosing this syndrome in individuals with a long and slender habitus. This in turn can lead to negative consequences for both the individual and his or her family. Failure of diagnosis may cause even more harm, in particular because of the risk of sudden cardiac events. In 1996 an international group of experts proposed a set of revised criteria for Marfan's syndrome which takes into account molecular findings and family history (the Gent criteria). It is important that all practising physicians are aware of these criteria in order to prevent over- and underdiagnosing. A correct diagnosis is of major importance for medical follow-up, genetic counselling, habilitation, and counselling with regard to education and occupation.     

Diagnostic criteria for sporadic Creutzfeldt-Jakob disease

BACKGROUND: Making a clinical diagnosis of sporadic Creutzfeldt-Jakob disease relies on the evaluation of rapidly progressive dementia, ataxia, myoclonus, changes on the electroencephalogram, and other neurological signs. A definite diagnosis, however, is confined to cases that have been evaluated neuropathologically or by equivalent diagnostic techniques. This places a high priority on the establishment of reliable neuropathologic methods for the investigation and diagnosis of Creutzfeldt-Jakob disease. OBJECTIVE: To evaluate existing morphological and laboratory diagnostic techniques to reach a consensus on the definition of "definite Creutzfeldt-Jakob disease." METHODS: The existing morphological techniques, particularly immunohistochemistry, used in 4 laboratories--Germany, Great Britain, Japan, and the United States--are evaluated, and various laboratory diagnostic techniques are discussed. RESULTS: Immunohistochemistry with antibodies against the prion protein combined with special tissue pretreatment regimens gives reliable diagnostic results and, for its applicability to formalin-fixed and paraffin-embedded tissue, is superior to other techniques that may be more sensitive but require fresh, unfixed brain tissue. CONCLUSIONS: Our experience suggests the following regimen for the diagnosis of suspected Creutzfeldt-Jakob disease: light microscopy of various brain regions, which in typical cases may lead to definite diagnosis. Immunohistochemistry with antibodies against the prion protein is preferable in all suspected cases of Creutzfeldt-Jakob disease and is mandatory whenever a routine histological workup does not yield definite results. Additional special techniques can be applied if required.     

Psychosomatic syndromes in clinical practice. A proposal of diagnostic criteria

The following is a translation of the proposed diagnostic criteria established by a European group for twelve common psychosomatic syndromes found in general clinical practice. Many of them have the potential to occur during different stages of a large variety of diseases and their detection could lead to better holistic provision of health care.     

New diagnostic peritoneal lavage criteria for diagnosis of intestinal injury

BACKGROUND: Although diagnostic peritoneal lavage (DPL) is a well-established, reliably objective method of diagnosis of intraperitoneal injury, it is too sensitive to be used as an indicator for emergency celiotomy. Therefore, since the development of ultrasonography and advanced computed tomographic scanners, the role of DPL has been markedly reduced. Despite such remarkable advances, however, radiologic diagnosis of intestinal injury cannot always provide definitive results, and DPL may still be valuable in such instances. We have developed a new DPL criteria specifically designed to aid in the diagnosis of intestinal injury and have evaluated its effectiveness. METHODS: From August 1988 to December 1995, we performed DPL in 250 patients with blunt abdominal trauma and analyzed the diagnostic accuracy of our new criteria. We used the standard quantitative white blood cell (WBC) criterion for detection of intestinal injury supplemented by a positive-negative borderline adjusted to WBC > or = red blood cell (RBC)/150, where RBC > or = 10 x 10(4)/mm3. RESULTS: Our criteria had a diagnostic sensitivity of 96.6% and a specificity of 99.4% for intestinal injury after exclusion of 57 patients in whom DPL was performed within 3 hours or after 18 hours from the time of injury. In 133 patients with hemoperitoneum, emergency celiotomy was performed in only 48; the remaining 85 patients with negative DPL based on the WBC criterion avoided surgery, and conservative management resulted in no complications. CONCLUSION: With the proposed criteria, DPL can be used to diagnose or exclude intestinal injury even in the presence of hemoperitoneum.     

Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases)

Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human transmissible spongiform encephalopathies (prion diseases) are proposed for the following disease entities: CJD--sporadic, iatrogenic (recognised risk) or familial (same disease in 1st degree relative): spongiform encephalopathy in cerebral and/or cerebellar cortex and/or subcortical grey matter; or encephalopathy with prion protein (PrP) immunoreactivity (plaque and/or diffuse synaptic and/or patchy/perivacuolar types). Gerstmann-Str?ussler-Scheinker disease (GSS) (in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multicentric PrP plaques. Familial fatal insomnia (FFI) (in member of a family with PRNP178 mutation): thalamic degeneration, variable spongiform change in cerebrum. Kuru (in the Fore population). Without PrP data, the crucial feature is the spongiform change accompanied by neuronal loss and gliosis. This spongiform change is characterised by diffuse or focally clustered small round or oval vacuoles in the neuropil of the deep cortical layers, cerebellar cortex or subcortical grey matter, which might become confluent. Spongiform change should not be confused with non-specific spongiosis. This includes status spongiosus ("spongiform state"), comprising irregular cavities in gliotic neuropil following extensive neuronal loss (including also lesions of "burnt-out" CJD), "spongy" changes in brain oedema and metabolic encephalopathies, and artefacts such as superficial cortical, perineuronal, or perivascular vacuolation; focal changes indistinguishable from spongiform change may occur in some cases of Alzheimer's and diffuse Lewy body diseases. Very rare cases might not be diagnosed by these criteria. Then confirmation must be sought by additional techniques such as PrP immunoblotting, preparations for electron microscopic examination of scrapie associated fibrils (SAF), molecular biologic studies, or experimental transmission.     

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

OBJECTIVE: To improve clinical recognition and provide research diagnostic criteria for three clinical syndromes associated with frontotemporal lobar degeneration. METHODS: Consensus criteria for the three prototypic syndromes-frontotemporal dementia, progressive nonfluent aphasia, and semantic dementia-were developed by members of an international workshop on frontotemporal lobar degeneration. These criteria build on earlier published clinical diagnostic guidelines for frontotemporal dementia produced by some of the workshop members. RESULTS: The consensus criteria specify core and supportive features for each of the three prototypic clinical syndromes and provide broad inclusion and exclusion criteria for the generic entity of frontotemporal lobar degeneration. The criteria are presented in lists, and operational definitions for features are provided in the text. CONCLUSIONS: The criteria ought to provide the foundation for research work into the neuropsychology, neuropathology, genetics, molecular biology, and epidemiology of these important clinical disorders that account for a substantial proportion of cases of primary degenerative dementia occurring before the age of 65 years.     

Creating and field-testing diagnostic criteria for partner and child maltreatment.

An integrated set of diagnostic criteria for partner abuse and child abuse and neglect were developed and tested in 4 studies conducted with a branch of America's largest family maltreatment protection agency (i.e., the U.S. military's Family Advocacy Program). Maltreatment criteria then in force were found to have adequate levels of content validity, but experts' and users' feedback indicated ambiguities and poorly specified criteria that undermined reliable application. Criteria incorporating elements of the best existing civilian and military operationalizations were developed and evaluated in two field trials. The final definitions were found to support very high levels of agreement (92%) between base adjudicating committees and master reviewers. (PsycINFO Database Record (c) 2010 APA, all rights reserved)