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At least 145 records · Page 8Linked to original sources
PubMed1990

The popliteal artery entrapment syndrome: presentation, morphology and surgical treatment of 13 cases.

The morphology, clinical parameters and treatment of the popliteal artery entrapment syndrome (PAES) are presented on the basis of 13 of our own cases and from the literature. PAES is based on a segmental vascular compression due to an anatomical anomaly of the popliteal region and a new classification is presented distinguishing three variants according to the different anatomical conditions. PAES is mostly found in young sportsmen with well-developed muscles. Clinical symptoms are acute or chronic, and the diagnosis is made by physical examination, angiography and Doppler ultrasound, both in neutral position and in plantar flexion. Although thromboendarterectomy in some cases leads to good results, the preferred surgical therapy is decompression of the entrapped artery and reconstruction of the arterial pathway by vein graft interposition. The results were excellent in nine of 13 cases. In two patients, a recurrent thrombosis necessitated a femoro-crural bypass and in two others the entrapment was only diagnosed during reoperation for aneurysms of the venous graft.

Adult↗
PubMed1976

Glucose-6-phosphate dehydrogenase Ferrara. A new variant of g-6-PD identified in Northern Italy.

A new variant of glucose-6-phosphate dehydrogenase (G-6-PD) has been discovered in Northern Italy, in the district of Ferrara. This variant is characterized by high decrease of red blood cell enzyme activity (less than 5% of normal), high affinity for G-6-P and NADP, increased utilization of deamino-NADP and 2-deoxy-G-6-P, and faster electrophoretic mobility in the buffer systems commonly used for the classification of the G-6-PD variants. The new G-6-PD type was never associated with clinical manifestations in any cases except neonatal jaundice in some of the newborns with this enzyme deficiency. The frequency of the new variant in the Ferrara district indicates that it has probably appeared in this area by mutation some centuries ago. It is suggested that this variant should be named G-6-PD Ferrara.

Electrophoresis, Starch Gel↗
PubMed1992

[Clinical characteristics and typological classification of endogenous depression resistant to treatment].

Overall 47 patients suffering from treatment-resistant endogenous depressions were examined. In accordance with psychopathological manifestations, structure and dynamics of the given conditions, typological differentiation was performed. Three main variants, designated as reactive neurotic, endomorphous vital and heteronomic, were described. Differences were shown between resistant and curable endogenous depressions in terms of some clinical, psychopathological and structural signs. A varying character of treatment response under conditions of routine treatment by antidepressants combined with antioxidants is discussed in different clinical varieties of treatment-resistant endogenous depressions.

Adult↗
PubMed1986

[Current concepts concerning the syndrome of early ventricular repolarization].

Electrocardiograms of 1000 patients examined in a polyclinic for various diseases and during prophylactic checkups, were analyzed. The syndrome of early ventricular repolarization (SEVR) was detected in 54 (5.4%) patients. According to the proposed classification scheme of SEVR one could determine its clinical value and the distribution of frequency of its variants and types. The authors put forward present-day ideas as to SEVR assumed genesis with an attempt to verify some of them. Differential-diagnostic pharmacological tests (procainamide, quinidine and propranolol) were recommended for SEVR recognition.

Adolescent↗
PubMed2000

[Postural orthostatic tachycardia syndrome (POTS): etiology, diagnosis and therapy].

BACKGROUND: Since the renaissance of tilt table testing in clinical cardiology some 15 years ago, the syndromes of autonomic dysfunction with orthostatic intolerance underwent improved differentiation and classification. In the present review a variant of autonomic dysfunction with orthostatic intolerance--POTS (postural orthostatic tachycardia syndrome)--will be discussed. DIAGNOSIS AND TREATMENT: The affected patients present with orthostatic intolerance, postural tachycardia, exercise intolerance, fatigue, dizziness and in some cases with other dysautonomic symptoms such as gastrointestinal or sudomotor dysfunction. Together with the clinical history, tilt table testing is the cornerstone of diagnostic evaluation by which the syndrome can be distinguished from typical neurocardiogenic disorders. POTS is characterized by different subtypes; accordingly, therapy for relief of symptoms is variable and includes beta blockers for patients with the hyperadrenergic type and alphamimetics for those with partial dysautonomia. CONCLUSION: Although it is now possible to differ POTS from other forms of autonomic dysfunction, further research is warranted to clarify the pathophysiology of this syndrome and its subtypes and to improve therapeutic interventions.

Adrenergic Agents↗
PubMedDate not supplied

[Characterization of neuronal ceroid lipofuscinosis in Venezuelan children].

INTRODUCTION: Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders. CASE REPORTS: We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993 2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamen on T2-weighted images. The ultrastructural examination of the samples obtained through a biopsy showed curvilinear bodies in all patients. CONCLUSION: There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population.

Child, Preschool↗
PubMed1991

Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity.

We report the cases of two siblings both affected by inherited sensory-motor neuropathy of a demyelinative nature but with markedly different severity and pathological findings. The clinical, neurophysiological and morphological features in these two cases were consistent with the diagnosis of Hereditary Motor Sensory Neuropathy type 3 (HMSN 3), according to the classification of Dyck, with different expressivity. These results raise the still unsettled question of the phenotypic variants in inherited neuropathies. In fact the most severely affected of our cases had clinical and neurophysiological findings identical to those reported in cases of Congenital Hypomyelination Neuropathy (CHN), but the morphological picture in the sural nerve was inconsistent with this diagnosis. The criteria for the diagnosis and the reported cases of CHN have been reviewed.

Biopsy, Needle↗
PubMed1993

Human prion diseases (spongiform encephalopathies).

Prion diseases (spongiform encephalopathies) in humans are Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and kuru. Clinically, they are characterized by an inexorably progressing neurological illness with dementia and ataxia as the most prominent signs. The classical neuropathological changes are limited to the central nervous system and consist of spongiform degeneration, amyloid plaques, astrocytic gliosis, and nerve cell loss. The human spongiform encephalopathies, which for many years were considered neurodegenerative disorders of unknown etiology, were finally recognized as transmissible diseases similar to scrapie in sheep in the late 1960's. The infectious agent appears to consist of protein devoid of functional nucleic acid and has been termed prion to distinguish it from viruses. The prion hypothesis has gained wide acceptance through the finding that mutations of the prion protein gene are associated with heritable human prion disease. Different mutations appear to cause prion disease with a distinct pattern of clinical and pathological features in a great number of families. Certain mutations of the PrP gene have been shown to be associated with clinical and neuropathological changes not typical of any variant of human prion disease known to date. A new classification of prion diseases based on the molecular biology and biochemistry of the prion protein is likely to emerge.

Animals↗
PubMed1986

Acute myelomonocytic leukemia: an unusual variant with both granulocytic and monocytic esterases in the leukemic cells.

By using the combination of alpha-naphthyl butyrate esterase and chloroacetate esterase for cytochemical detection of monocytes and granulocytes, respectively, we examined and identified five adult patients with acute myeloid leukemia whose leukemic cells often (20 to 30%) had the characteristics of both monocytes and granulocytes. All five patients were men, 23 to 82 years of age. Two patients had manifestations of preleukemia. One of these two patients had received treatment for lymphoma for 12 months before acute myelomonocytic leukemia was diagnosed. One patient had gum hypertrophy, and two had leukemia cutis. At the time of initial examination, four patients had blood leukocyte counts higher than 80,000/mm3 and one had leukopenia. Four patients received chemotherapy; three responded temporarily but died within 1 year after the myelomonocytic leukemia had been diagnosed. The patient with leukopenia has remained in complete remission for 2 years. With more frequent use of double esterase stains for classification of acute myeloid leukemias, this variant of acute myelomonocytic leukemia should be detected more often and its clinical behavior should be better understood.

Adult↗
PubMedDate not supplied

Carving chaos: genetics and the classification of mood and psychotic syndromes.

Though Kraepelin's century-old division of major mental illness into mood disorder and schizophrenia remains in place, debate abounds over the most appropriate classification. Although these arguments previously rested solely on clinical grounds, they now are rooted in genetics and neurobiology. This article reviews evidence from the fields of genetic epidemiology, linkage, association, cytogenetics, and gene expression. Taken together, these data suggest some overlap in the genes that predispose to bipolar disorder and schizophrenia. One gene, DAOA (D-amino acid oxidase activator, also known as G72), has been repeatedly implicated as an overlap gene, while DISC1 and others may constitute additional shared susceptibility genes. Further, some evidence implicates syndromes of co-occurring mood and psychotic symptoms in association with the putative risk alleles in overlap genes. From a nosologic perspective, the existence of overlap genes, coupled with the genotype-phenotype correlations discovered to date, supports the reality of the much debated schizoaffective disorder. Potential non-overlap syndromes--such as nonpsychotic bipolar disorder or cyclothymic temperament, on the one hand, and negative symptoms or the deficit syndrome, on the other--could turn out to have their own unique genetic determinants. If genotypes are to be the anchor points of a clinically useful system of classification, they must ultimately be shown to inform prognosis, treatment, and prevention. No gene variants have yet met these tests in bipolar disorder or schizophrenia.

Bipolar Disorder↗
PubMed2003

[Diagnosis and treatment of postoperative recurrences of varicosity].

The aim of the present work was to study the causes of post-operative recurrences of varicosity and to define approaches to their optimal correction. Duplex scanning (DS) with Color Doppler Imaging of the blood flow was used to examine 126 patients (136 extremities) with recurrences of varicosity. The patients were distributed according to the CEAP clinical classification. Altogether 76 patients (78) extremities with recurrences of varicosity were operated on. 27 persons received different variants of sclerotherapy including echoscleroobliteration. According to the DS data, the most frequently obtained finding in patients with recurrences of varicosity was identification of the perforating veins with valvular insufficiency, namely in 120 (or in 88.2%) extremities. The long stump of the greater saphenous vein (CSV) was discovered in 86 (63.2%) extremities, the long stump of the lesser saphenous vein (LSV) in 6 (4.4%), ectasia of LSV trunk was recognised in 20 (14.5%), incompetence of the valves of the sural veins in 12 (8.8%) extremities. Incompetence of the valves of the deep veins was present in 73 (53.6%) patients. No sources of pathological veno-venous runoff were identified in 12 (8.1%) cases. A good agreement was established between the incidence of valvular incompetence of the deep veins and the disease severity. The indications for surgical correction of valvular insufficiency were worked out. It has been demonstrated that sclero-obliteration is the method of choice in the treatment of the recurrences of varices. The long-term results of operations for recurrences of varicosity were followed up in 62 patients over the period of one to 15 years. Good and satisfactory results were obtained in 60 (96.8%) cases. The authors believe that the majority of varicosity recurrences arise from an inadequate assessment of the status of lower extremity venous bed as well as from technical and methodological faults of the operating surgeon. DS in an indispensable component of preoperative examination of patients with varicosity recurrences.

Adult↗
PubMed1987

[Cancer of the valleculal and laryngeal vestibule treated by supraglottic horizontal laryngectomy. Apropos of 173 surgically treated cases at the Institut Gustave-Roussy].

The authors make a report on a series of 173 supraglottal horizontal laryngectomies carried out from 1970 to 1984 at the Gustave-Roussy Institute of Villejuif. After recalling of operability conditions and tackling characteristics of this series are quoted variants required from tumours localisations diversity and importance of extension. Then are treated clinical and anatomo-pathological classification as briefly surgeries results. This work is specially concerning in survival by analysing different topographical clinical and histological criteria. Survival of 173 patients, having gone through an supra-glottal laryngectomy is 45.5% at 3 years and 31.3% at 5 years. At least, reasons of failure are analysed. This kind of partial surgery caring of voice, should be proposed to patients affected by vallecula or epiglottis carcinomas as regards of good functional and improved carcinological results.

Adult↗
PubMed1988

[Clinical aspects and classification of primary osteoarthrosis deformans].

The authors reported the results of investigation of 70 patients with osteoarthrosis deformans followed up for 3-10 yrs. They defined 3 variants of a course of the disease: with rapid progression, slow progression, without noticeable progression. These variants differed in disease spreading, the frequency of arthrotic synovitis and the presence of hereditary predisposition. Signs of erosive arthrosis of the distal and proximal digital hand joints were noted in 12 patients with nodular polyosteoarthrosis. A characteristic signs in this group of patients was hereditary predisposition combined with local vegetative-vascular disorders and a strain on the digital hand joints, and degenerative affection of the cervical spine with the radicular syndrome.

Atrophy↗
PubMed2003

Pathophysiology of priapism: dysregulatory erection physiology thesis.

PURPOSE: While a modest amount of medical literature has been written on the topic of priapism, reports heretofore have focused predominantly on diagnostic and management related aspects of the disorder, providing meager information in regard to its pathophysiology. Accordingly the intent of this review was to explore the etiological and pathogenic factors involved in priapism. MATERIALS AND METHODS: The review entailed an overview of traditional and modern concepts that have been applied to the pathophysiology of priapism and an evaluation of assorted observational and experimental data relating to this field of study. The basic exercise consisted of a literature search using the National Library of Medicine PubMed Services, index referencing provided through the Historical Collection of the Institute of Medicine of The Johns Hopkins University and a survey of abstract proceedings from national meetings relevant to priapism. RESULTS: Insight into the pathophysiology of priapism was derived from a synthesis of evolutionary clinical experiences, mythical beliefs, clinical variants and scientific advances associated with the field of priapism. The results can be summarized. 1) Clinicopathological manifestations of priapism support its basic classification into low flow (ischemic) and high flow (nonischemic) hemodynamic categories, commonly attributed to venous outflow occlusion and unregulated arterial overflow of the penis, respectively. 2) Factual information is insufficient to substantiate etiological roles for urethral infection, bladder distention, failed ejaculation, satyriasis and sleep apnea in priapism. 3) Features of the variant forms of priapism invoke changes in nervous system control of erection and penile vascular homeostasis as having pathogenic roles in the disorder. 4) Clinical therapeutic and basic science investigative studies have revealed various effector mechanisms of the erectile tissue response that may act in dysregulated fashion to subserve priapism. CONCLUSIONS: This exercise suggested that, while priapism is commonly defined in terms of adverse mechanical contexts affecting penile circulation, it may also be viewed at least in some situations as an unbalanced erectile response involving derangements in possibly diverse systems of regulatory control. An integrative scientific approach that encompasses tissular, cellular and molecular levels of investigation may allow further understanding of the pathophysiology of the disorder. Ongoing elucidation of this pathophysiology can be expected to promote the development of new priapism therapies.

Greece, Ancient↗
PubMed2000

Burkitt's lymphoma in Greek adults. A study of the Hellenic co-operative oncology group.

Non-African Burkitt's lymphoma is a rare disease among adults without AIDS. Among 1352 Greek adult patients with non-Hodgkin's lymphoma, 24 cases (1.8%) were classified as Burkitt's (BL) or Burkitt-like (BLL) lymphoma. Eleven cases fulfilled the criteria of BL and 13 of BLL. No statistical differences were found in the general characteristics of the two groups at the time of diagnosis. Extranodal involvement was a common finding in both groups and bulky disease (>10 cm) was observed in almost one half of the patients. The majority of the patients were treated with intensive, although different, protocols. After induction treatment, complete remission (CR) was achieved in 14 patients (60.8%). CR was reached in all cases with stage I-II, while in stage IV the CR rate was 30.4%. The median overall survival was 27 months. The median survival for BL was 13 months compared to 27 months in the BLL group (P=0.34). The data of the present retrospective analysis, indicated that there were not significant clinical differences between BL and BLL variants. Since BLL is still a non-reproducible category in the REAL classification, all BL variants must be treated uniformly with intensive protocols.

Adolescent↗
PubMed1990

[The indications for and sequence of vitrectomy and scleroplastic operations in posttraumatic retinal detachment and vitreous body pathology (1)].

The paper presents a clinical analysis of surgical treatment of 378 patients (426 operations) with posttraumatic retinal detachment. A broadened variant of a classification of traumatic retinal detachment signs in associated pathology of the retina and vitreous body is proposed. Recommendations are worked out concerning the approach of surgical treatment of traumatic detachment with determination of indications and the sequence of vitrectomy and scleroplastic operations. It is advisable to assess the effectiveness of surgical intervention in this pathology in more delayed terms.

Adolescent↗