Analysis of phenotypic manifestations of abnormal human hemoglobins

Phenotypic manifestations of abnormal human hemoglobins are discussed using the data of hematology, protein chemistry and molecular biology. On the basis of the presented analysis it is proposed to distinguish between phenotypic manifestations characterizing the primary molecular defect, i.e. properties of a mutant protein and their expression on the molecular and cellular levels; manifestations characterizing the equilibrium of the primary defect and compensatory potentialities of the organism; and finally the unbalanced state when the compensatory abilities of the organism are depleted. These different manifestations of the same defective gene reflect the most relevant peculiarities of mutant protein properties per se, expression of the properties in the living organism, the influence on the homeostatic system "mutant protein--organism" of the genetic and environmental factors both at the compensation state and at stress.     

Psychotic manifestations in the bed-fast elderly--a preliminary communication

In order to examine a hypothesis that bed-fast elderly tend to develop psychotic manifestations more often when they are under greater environmental stress, we have devised a caretaker-patient relationship score (CPR score) to measure the relationship between the elderly and their principal caretakers. Our study in three areas of Japan demonstrated that in each area the occurrence of the psychotic manifestations is greater in the group with poor CPR scoring, suggesting that the greater the environmental stress the more frequently psychotic manifestations occur.     

Symptomatic infections by toscana virus in the Modena province in the triennium 1999-2001

We report nine cases of clinical manifestations by Toscana virus (TOSV) diagnosed at the Centre for the Diagnosis of Viral Diseases of the University of Modena and Reggio Emilia, in the inhabitants of Modena province (Emilia Romagna region), in the triennium 1999-2001. TOSV was involved in six cases of meningitis, two of meningoencephalitis and one case of febrile erythema without meningeal manifestations. Six TOSV-infected patients had stayed for a few days in a different area of the Tuscany region before the onset of clinical manifestations so, only three cases of infections by TOSV had an autochthonous origin.     

多系统萎缩的早期综合诊断

目的:探讨多系统萎缩(multiple system atrophy,MSA)患者的临床表现及神经影像学新特征(脑桥"十字征"和"壳核裂隙征")在MSA早期诊断中的临床意义。方法:回顾性分析21例临床诊断为多系统萎缩(MSA)患者的临床表现和头部MRI资料。结果:21例MSA患者中,Shy-Drager综合征(MSA-A)9例,早期临床表现为体位性低血压,泌尿生殖功能障碍,头部MRI检查脑桥"壳核裂隙征"和"十字征"为Ⅰ期;橄榄体脑桥小脑萎缩(MSA-C)5例,3例发病后1年头部MRI脑桥"十字征"达Ⅱ期;"壳核裂隙征"为Ⅰ期,2例发病后3年头部MRI脑桥"十字征"达Ⅳ期。黑质纹状体变性(MSA-P)7例:早期临床均有运动迟缓、震颤等表现,3例发病后1年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅲ期;3例发病后2年脑桥"十字征"Ⅰ期,"壳核裂隙征"Ⅰ期;另1例发病后9月脑桥"十字征"Ⅰ期",壳核裂隙征"Ⅱ期。结论:认为临床表现与头部MRI检查显示的新的影像学特征结合有助于MSA早期诊断。     

Tularemia in inactive natural foci

The data on the epidemiological and epizootological manifestations of tularemia on the territory of the Ulyanovsk region are presented. The characteristics describing the process of the of Francisella tularensis circulation as well as the environmental objects, most important for the manifestations of tularemia infection, are given.     

Clinical manifestations associated with neurocysticercosis: a systematic review

Background

The clinical manifestations of neurocysticercosis (NCC) are poorly understood. This systematic review aims to estimate the frequencies of different manifestations, complications and disabilities associated with NCC.

Methods

A systematic search of the literature published from January 1, 1990, to June 1, 2008, in 24 different electronic databases and 8 languages was conducted. Meta-analyses were conducted when appropriate.

Results

A total of 1569 documents were identified, and 21 included in the analysis. Among patients seen in neurology clinics, seizures/epilepsy were the most common manifestations (78.8%, 95%CI: 65.1%–89.7%) followed by headaches (37.9%, 95%CI: 23.3%–53.7%), focal deficits (16.0%, 95%CI: 9.7%–23.6%) and signs of increased intracranial pressure (11.7%, 95%CI: 6.0%–18.9%). All other manifestations occurred in less than 10% of symptomatic NCC patients. Only four studies reported on the mortality rate of NCC.

Conclusions

NCC is a pleomorphic disease linked to a range of manifestations. Although definitions of manifestations were very rarely provided, and varied from study to study, the proportion of NCC cases with seizures/epilepsy and the proportion of headaches were consistent across studies. These estimates are only applicable to patients who are ill enough to seek care in neurology clinics and likely over estimate the frequency of manifestations among all NCC cases.     

Correlation of serotype-specific dengue virus infection with clinical manifestations

Background

Disease caused by the dengue virus (DENV) is a significant cause of morbidity throughout the world. Although prior research has focused on the association of specific DENV serotypes (DENV-1, DENV-2, DENV-3, and DENV-4) with the development of severe outcomes such as dengue hemorrhagic fever and dengue shock syndrome, relatively little work has correlated other clinical manifestations with a particular DENV serotype. The goal of this study was to estimate and compare the prevalence of non-hemorrhagic clinical manifestations of DENV infection by serotype.

Methodology and Principal Findings

Between the years 2005–2010, individuals with febrile disease from Peru, Bolivia, Ecuador, and Paraguay were enrolled in an outpatient passive surveillance study. Detailed information regarding clinical signs and symptoms, as well as demographic information, was collected. DENV infection was confirmed in patient sera with polyclonal antibodies in a culture-based immunofluorescence assay, and the infecting serotype was determined by serotype-specific monoclonal antibodies. Differences in the prevalence of individual and organ-system manifestations were compared across DENV serotypes. One thousand seven hundred and sixteen individuals were identified as being infected with DENV-1 (39.8%), DENV-2 (4.3%), DENV-3 (41.5%), or DENV-4 (14.4%). When all four DENV serotypes were compared with each other, individuals infected with DENV-3 had a higher prevalence of musculoskeletal and gastrointestinal manifestations, and individuals infected with DENV-4 had a higher prevalence of respiratory and cutaneous manifestations.

Conclusions/Significance

Specific clinical manifestations, as well as groups of clinical manifestations, are often overrepresented by an individual DENV serotype.     

PSYCHIATRIC ASPECTS OF PSYCHOMOTOR EPILEPSY

Psychomotor or temporal lobe epilepsy is a frequently missed diagnosis. It is often confused with grand mal and petit mal epilepsy. At times it is the first symptom of an organic neurological disease. It is often masked as a psychiatric disorder or is associated with a mental illness without clinically detectable seizures.These psychic manifestations simulate all of the neuroses and major psychiatric states. Excitement states with amnesia may lead to violent antisocial behavior. All these manifestations may be aggravated by alcohol.Thalamic epilepsy shows itself in similar psychiatric manifestations and accounts for behavior disorder in children more than temporal lobe epilepsy. Atypical seizures with vegetative or emotional aura and a characteristic electroencephalogram differentiate it from temporal lobe epilepsy.Proper understanding of the varied manifestations, with positive electroencephalographic findings, leads to the correct diagnosis in most cases. All patients with unusual or atypical personality or psychiatric-like states should have careful electroencephalographic examination. Anticonvulsant therapy and other psychiatric treatment procedures can relieve most cases. Surgical therapy sometimes is necessary.     

难辨认孢子丝菌病临床分析

探讨孢子丝菌病不典型的临床表现.孢子丝菌病是皮肤科常见的一种深部真菌病,典型的皮肤科特征是慢性肉芽肿、溃疡性损害、炎性结节等.而部分孢子丝菌病的患者由于各种各样的原因导致皮损丧失特征性临床表现,给皮肤科医生尤其是临床经验尚不丰富的年轻医师于该病的诊断带来了一定的困难.本文所讨论的8例患者均为就诊于我科门诊并已确诊为孢子丝菌病病例,皮损与典型的孢子丝菌病皮损表现不相符,希望皮肤科医师在以后的临床工作中遇到一些不典型皮损但是综合患者病史、生活环境、诊治过程等情况可考虑到此种疾病,及时给予明确的诊断,使患者能够得到及时、有效的治疗.     

Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency

Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency). Urinary guanidinoacetate and creatine levels in HPRT deficient patients were within the normal range. Guanidinoactetate alteration does not seem to be implicated in the pathogenesis of the neurological disease associated with HPRT deficiency.     

Urinary Guanidinoacetate and Creatine Levels in Patients with HPRT Deficiency

Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency). Urinary guanidinoacetate and creatine levels in HPRT deficient patients were within the normal range. Guanidinoactetate alteration does not seem to be implicated in the pathogenesis of the neurological disease associated with HPRT deficiency.     

Neurologic manifestations of hepatic distomiasis caused by Fasciola hepatica]

The hepatic distomiasis is a parasitic and cosmopolite affection caused by a trematode Fasciola hepatica. The clinical manifestation usually includes an invasion phase with toxi-infectious hepatitis and intermittent angiocholitis episodes during the chronic phase of the disease. Many authors insist for few years, on some revealing manifestations of the disease that are unusual in the classical forms, especially the neurological manifestations that are rare and of extreme polymorphism. Based on a 12 years old tunisian child case of distomiasis caused by F. hepatica associated with neurological manifestations and through the analysis of 25 literature cases, the symptomatological and physiopathological aspects of this clinical form that generally makes the physician perplex, are reviewed.     

Emotional manifestations in the electrical stimulation of the hypothalamic nuclei in adult and old rats

In experiments on adult (9-10 months) and old (24-26 months) white Wistar rats behavioural manifestations under electrical stimulation of the ventromedial hypothalamus nucleus and self-stimulation (SS) of the lateral hypothalamic region were studied. It has been found that with age electrical thresholds of negative emotional manifestations decrease with invariable SS thresholds. In old rats, in comparison with the adult ones, SS frequency is lower, maximum SS proceeds at lower currents, the range of currents capable to evoke an intensive SS is narrower, SS motivational component is less expressed. The obtained data testify that in old rats there exist neurophysiological preconditions for prevailing of negative emotional manifestations.     

Mycoplasma pneumoniae Pneumonia—Experience at a Referral Center

Mycoplasma pneumoniae pneumonia is usually a benign illness, and respiratory complications and extrapulmonary manifestations occur rarely. In this series, patients admitted to a referral hospital with this disorder had unusual symptoms, signs and findings on chest roentgenograms and laboratory studies. Pneumonia was often severe and extrapulmonary manifestations were frequent, resulting in prolonged hospital stays and illnesses. Although this extreme end of the spectrum of disease caused by M pneumoniae is not representative of this type of pneumonia as seen in outpatients, it is important to realize that patients admitted to hospital with severe, complicated pneumonia frequently have unusual manifestations of a common disease.     

Laboratory diagnosis of syphilis

Syphilis is a fascinating disease with a varied and perplexing array of clinical manifestations. Diagnosis is based upon clinical manifestations when present, identification of the etiologic agent, and serologic testing. A few new diagnositic tests have been developed in recent years but, with the exception of the IgM tests, most have no apparent advantage over existing standard approaches.     

Sex-linked inheritance in fronto-metaphyseal dysplasia

The author reports a family study of fronto-metaphyseal dysplasia in a 2 months-old child, in his mother and maternal grand-mother. The child is the more severely affected, while the mother and the grand-mother have less severe manifestations of the syndrome. This evidence permits to confirm the X-linked recessive inheritance of the disease, with severe manifestations in males and variable expression in female carriers.     

Gastric Ulceration Occurring during Indomethacin Therapy

Dyspeptic symptoms, gastrointestinal bleeding, or the development of anaemia without dyspepsia in patients treated with indomethacin may be manifestations of peptic ulceration. Such manifestations occur with suppositories as well as with capsules. The ulcers in the present series tended to be prepyloric, and often aroused the suspicion of malignancy. Symptoms were promptly relieved and radiological healing occurred rapidly after withdrawal of the drug.