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PubMed2000

Human immunodeficiency virus type 2 (HIV-2) in Portugal: clinical spectrum, circulating subtypes, virus isolation, and plasma viral load.

The human immunodeficiency virus type 2 (HIV-2) is responsible for 4. 5% of AIDS cases in Portugal. Six HIV-2 subtypes have been described so far, subtype A being proposed as more pathogenic than the rest. The relationship between the clinical status and levels of both cellular and plasma HIV-2 viraemia is not well known, nor their modifications under antiretroviral therapy. Thirty-two consecutive HIV-2 infected persons (17 men, 15 women) attending two different hospitals in Lisbon in 1997 were enrolled prospectively in the study. All but 4 individuals most likely acquired the infection through heterosexual contact. More than half of the study population was of African origin, mainly from Guinea-Bissau. Eleven (34.4%) patients had developed clinical manifestations included within the B or C groups of the CDC classification system for HIV infection, with the rest being asymptomatic. Half of the population was undergoing antiretroviral treatment at the time of the study. HIV-2 subtypes were investigated using a new Nef-based restriction fragment length polymorphism (RFLP) method that allows differentiation of the main two variants, A and B. Plasma viral load was quantified using a new quantitative competitive reverse transcriptase polymerase chain reaction (QcRT-PCR) procedure as well as the Amp-RT assay. Virus isolation was attempted from peripheral blood mononuclear cells. All but one person carried HIV-2 subtype A. Plasma viraemia examined by QcRT-PCR was measurable in 15 (50%) of 30 subjects, yielding in all instances values below 20,000 HIV-2 RNA copies per ml. Plasma RT activity could be detected in only 10 (33%) of 30 subjects, a rate much lower than that seen in HIV-1 infection. Virus was isolated from 16 (53.3%) of 30 patients. A significant correlation was found between CD4+ counts, clinical status, rate of virus isolation, and plasma viral load by both QcRT-PCR and Amp-RT. In conclusion, HIV-2 subtype A is the predominant variant circulating in Portugal among both natives and immigrants. A lower cellular and plasma viral load with respect to HIV-1 was seen in persons without immunosuppression, from whom the rate of virus recovery was extremely low.

Female↗
PubMed1981

[A classification of light reflexes of the ocular fundus (author's transl)].

The proposed classification resulted from many years of studying the light reflexes and their clinical importance in diseases of the fundus. The generally used term "retinal reflexes" is rejected; it is more appropriate to call them "light reflexes of the ocular fundus". They are divided into normal and pathologic reflexes. Pathologic reflexes are seen in diseases of the fundus. Within the group of normal reflexes it is possible to discern pathologic variants. The macular reflex, for example, may be normal or pathologic. Normal reflexes are the foveolar, the macular, the intramacular, the paramacular, the perimacular, the plane-like reflexes, Frost's points, the vertically linear reflexes, and the light streaks of the vessels. The pathologic reflexes comprise the fan-like, the focal, the peridiscal, the linear, the stationary, the metalloid reflexes, and the crystalline ones. This classification is intended not only for standardizing the nomenclature of the reflexes, but also for facilitating the recognition and differentiation of the numerous reflexes of the ocular fundus.

Diagnosis, Differential↗
PubMed1976

Pulmonary giant cell carcinoma.

Pulmonary giant cell carcinoma is one of the most highly malignant neoplasms of the lung. Eighteen patients with this tumor are presented. Histologically the neoplasm is composed of a preponderance of multinucleated giant cells, round cells, and spindle cells. Some of the most differentiated tumors show adenocarcinomatous foci and ultrastructural features of secretory epithelium favoring its classification as a variant of pulmonary adenocarcinoma. The giant cells of this neoplasm can be differentiated from those encountered in undifferentiated large cell carcinoma and epidermoid carcinoma by the abundant cytoplasm, the presence of more nuclei and nucleoli, and the significant degree of phagocytosis. The clinical picture and roentgenographic findings present no pathognomonic features.

Adult↗
PubMed2005

Hürthle (oncocytic) cell tumors of thyroid: etiopathogenesis, diagnosis and clinical significance.

The etiopathogenesis and the classification of oncocytic (Hürthle cell) tumors of the thyroid is reviewed with an emphasis on the role played by mitochondrial and nuclear genetic abnormalities that interfere with mitochondrial function. Oxyphilia is classified into primary or secondary and the so-called Hürthle cell carcinoma is divided into oncocytic (Hürthle cell) variants of papillary and follicular carcinoma.

Adenoma, Oxyphilic↗
PubMed2000

[Evaluation of the results of surgery of intracranial supratentorial tumors in 363 children over the past 50 years (1948-1997)].

At the Department of Neurosurgery, Hradec Králové, in the course of 50 years (1948-1997) 363 children, 199 boys and 164 girls (1.2:1) aged under 18 years were operated on for intracranial supratentorial tumours. The average age in children at the time of first operation was 9.3 years; most frequently they participated those of 8 and 11 to 14 years of age. Children aged 1, 2 and 3 years constituted 4.7%, 4.4% and 5% of operations. The tumours were located in: cerebral hemispheres 123 (33.8%), lateral ventricles 17 (4.7%), IIIrd ventricle 5 (1.4%), hypothalamus 26 (7.2%), thalamus 19 (5.2%), basal ganglia 24 (6.6%), sellar region 86 (23.7%), chiasmatic region 38 (10.5%) and pineal region 19 (5.2%). 223 of tumours (61.4%) were located in the midline and 140 of them (38.6%) laterally (in hemispheres and lateral ventricles of the brain). 268 of tumours were histologically verified (73.8%) and 95 of cases were evaluated according to the neurosurgeon's point of view and/or to the clinical and CT controls (26.2%), because of the biopsy (especially in the pre-CT era) was highly riskfull. Histological typing of tumours was retrospectively reevaluated according to the present WHO classification. Summarized 53 types of tumours were differentiated. The most frequent lesions were various variants of astrocytic gliomas (135 = 37.2%). Further on the craniopharyngiomas dominated (73 = 20.1%). The tumours were operated on through craniotomies 299 times, by primarily drainage operations 52 times, functions 6 times, stereotactically 8 times and or by combination of these operations 82 times. Reoperation was needed for postoperative complications in 1.7% (6 times) and for delayed recurrence in 11.3% (41 times). The postoperative mortality (up to 1 month after initial surgery) was in 156 children operated on in pre-CT era (between 1948 and 1977), as compared with 207 children operated on in the era of CT (between 1978 and 1997) in astrocytomas 3.8:0%, pilocytic astrocytomas 6.5:2.8%, craniopharyngiomas 15.4:0% and in all tumours 12.2:2.9%. 16 children with orbital tumours (the average age 5.8 years) operated on with orbitofrontal approach were also evaluated. 14 of them survive for 5-37 years (on the average 16.6 years). The chronological development of diagnostic and operative processes of supratentorial tumours in children's care is discussed. The prognostic elements of present histobiological classification of tumours are positively evaluated.

Adolescent↗
PubMed2003

[Histological classification of chronic glomerular diseases].

The various clinicopathological forms of primary glomerulonephritis (GN) in humans include lipoid nephrosis with its histological variants (minimal change disease, focal segmental glomerular sclerosis, diffuse mesangial proliferation, collapsing glomerulopathy), membranous GN, IgA nephropathy, membranoproliferative GN (type I and type II) and crescentic GN. Each of these entities is characterised by pathological, clinical, and immunological features. Although the precise aetiology of primary GN remains unknown, progress has been recently achieved in the understanding of the mechanisms of the glomerular lesions and of their progression. Early diagnosis may lead to adequate treatment and prevention of progressive glomerular damage.

Adult↗
PubMed1993

Neuropathology of human prion diseases (spongiform encephalopathies).

The human prion diseases (spongiform encephalopathies) comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and kuru. Their clinical characteristics are progressive neurological illness with dementia and ataxia as the most prominent signs. The typical neuropathological changes are limited to the central nervous system; they consist of spongiform degeneration, amyloid plaques, astrocytic gliosis, and nerve cell loss. The aetiology of human spongiform encephalopathies remained unclear for many years, until in the 1960s they were finally recognized as transmissible diseases similar to scrapie in sheep. The infectious agent, termed prion to distinguish it from viruses, consists of protein apparently devoid of functional nucleic acid. The finding that mutations of the prion protein gene are associated with heritable human prion disease has led to wide acceptance of the prion hypothesis. Different mutations have been found in prion disease with distinct clinical and pathological features in a great number of families. Clinical and neuropathological changes not typical of any known variant of human prion disease have been shown to be associated with certain mutations of the PrP gene. Further findings on the molecular biology and biochemistry of the prion protein will probably lead to a new classification of prion diseases.

Alzheimer Disease↗
PubMed2005

New ratios for the detection and classification of CJD in multisequence MRI of the brain.

We present a method for the analysis of deep grey brain nuclei for accurate detection of human spongiform encephalopathy in multisequence MRI of the brain. We employ T1, T2 and FLAIR-T2 MR sequences for the detection of intensity deviations in the internal nuclei. The MR data are registered to a probabilistic atlas and normalised in intensity prior to the segmentation of hyperintensities using a foveal model. Anatomical data from a segmented atlas are employed to refine the registration and remove false positives. The results are robust over the patient data and in accordance to the clinical ground truth. Our method further allows the quantification of intensity distributions in basal ganglia. sCJD patient FLAIR images are classified with a more significant hypersignal in caudate nuclei (10/10) and putamen (6/10) than in thalami. Defining normalised MRI measures of the intensity relations between the internal grey nuclei of patients, we robustly differentiate sCJD and variant CJD (vCJD) patients, as an attempt towards the automatic detection and classification of human spongiform encephalopathies.

Algorithms↗
PubMed2003

Peripheral T-cell lymphomas: clinical features and prognostic factors of 92 cases defined by the revised European American lymphoma classification.

The purpose of this study was to better define the clinical features and natural history of peripheral T-cell lymphomas (PTCL) entities included in the Revised European American lymphoma (REAL) classification. Cases of PTCL were retrieved from the records of the Department of Pathology and classified according to the REAL classification. In addition, cases of anaplastic large cell lymphoma (ALCL) were divided into classical, small cell, and primary cutaneous subtypes, and immunostaining for the anaplastic large-cell kinase (ALK) protein was performed on all cases of ALCL. Clinical features, response to therapy and survival were abstracted. Ninety-two cases of PTCL with adequate clinical information were retrieved. There were 40 cases of ALCL (30 classical, 7 small cell variant, 3 primary cutaneous), 28 PTCL, unspecified, 13 angioimmunoblastic T-cell lymphoma and 11 with other entities. The patients had a median age of 48 years with a range of 6-84 and had an estimated overall survival (OS) of 49% and progression-free survival (PFS) of 22% at 5 years. The International Prognostic Index (IPI) was a significant prognostic factor for both progression-free and OS. Histology was a significant predictor of PFS with anaplastic large cell having the best prognosis. ALK expression was not associated with an improved progression-free or overall-survival in patients with systemic T-cell ALCL. In conclusion, the REAL classification describes distinct PTCL entities. The IPI is the most important predictor of progression-free and OS in patients with PTCL. ALK expression may not provide prognostic information for systemic ALCL.

Adolescent↗
PubMed1984

[The Chance fracture and its variants].

Five cases of Chance fracture are reported, representing 0.6% of the spinal fractures treated at the Orthopedic Clinic of the University of Athens during the last 10 years. This fracture is frequently not recognized and diagnosis is delayed because of this fact. The mechanism and the clinical and radiological signs are discussed. A classification is proposed that contains four varieties of this lesion. The Chance fracture is discussed with regard to stability, as surgical stabilization is reserved for unstable fractures (types B, C, D).

Adult↗
PubMed1991

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.

Epidermolysis Bullosa↗
PubMed2004

Complexity in the treatment of pulmonary large cell neuroendocrine carcinoma.

PURPOSE: According to the World Health Organization (WHO) classification of pulmonary large cell neuroendocrine carcinoma (LCNEC), one of the neuroendocrine tumors of the lung, is considered as a variant of non-small cell lung carcinoma. The objective of this study was to investigate the treatment strategy for LCNEC. METHODS: We retrospectively reviewed the clinical information of 12 patients with LCNEC. RESULTS: Three patients with stage I disease underwent curative resection but all relapsed within 20 months. One with stage IIA disease underwent non-curative resection received adjuvant chemoradiotherapy (cisplatin plus etoposide) and is well with no evidence of recurrence. Two with stage IIIB disease received concurrent chemoradiotherapy. Both achieved partial response (PR) but relapsed within 2 months. One elderly patient with stage IIIA disease received vinorelbine alone and did not respond. Of five patients with stage IV disease, three received platinum-based chemotherapy but no patient achieved PR. Of five patients with gefitinib as salvage therapy, one achieved PR. CONCLUSIONS: The prognosis of LCNEC is poor. To improve the outcome, we must evaluate the effectiveness of adjuvant or neoadjuvant therapy in patients with resectable disease. In addition, the evaluation of systemic and multimodality treatment strategies similar as in small cell lung cancer is worthy of consideration.

Adult↗
PubMedDate not supplied

[Differential diagnostic considerations in microcephalic dwarfism].

PURPOSE: While the rare Seckel-Syndrome is defined by clear criteria, clinical and radiologic findings for microcephalic osteodysplastic primordial dwarfism (MOPD) make an exact diagnosis and classification difficult. By comparing our patients to previously described cases of MOPD we evaluate the hypothesis that this disorder has a greater heterogeneity than has been believed up until now. Furthermore the differential diagnosis of the MOPD-complex is discussed. RESULTS: Two cases that show typical growth retardation, microcephalus and facial anomalies as well as osteodysplastic deformities including hip dysplasia are presented. The parents of both children are consanguineous and of Arabic race. In one of the children growth hormone levels were noticeably decreased. In discrepancy to the Seckel-syndrome both children showed no signs of mental retardation, therefore the classification into the heterogeneous group of microcephalic osteodysplastic primordial dwarfism (MOPD) is the most likely diagnosis. CONCLUSION: It is suggested that microcephalic osteodysplastic primordial dwarfism (MOPD) has a greater clinical and radiological expression than has been assumed up until now. Whether our results are merely a variant or suggest a new subtype of the MOPD can only be resolved by further cases. The exact pathogenesis of the disease currently remains unknown but the most probable cause is an autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1993

Dysembryoplastic neuroepithelial tumours.

Dysembryoplastic neuroepithelial tumours (DNTs) are a group of supratentorial cortical benignant lesions that superficially resemble mixed oligo-astrocytomas, oligodendrogliomas or astrocytomas. Clinically these tumours are associated with partial seizures beginning before the age of 20 years, with no neurologic deficit and no stigmata of phacomatosis. In the revised WHO classification, DNTs have been incorporated among the category of neuronal and mixed neuronoglial tumours. This classification describes a histologic variant characterized by the following criteria: cortical location, multinodular architecture--the nodule being made of multiple variants looking like astrocytomas, oligodendrogliomas or oligo-astrocytomas, foci of dysplastic cortical disorganization and the presence of a glioneuronal element showing a columnar structure perpendicular to the cortical surface. A study of 14 cases for which only a specific glioneuronal element could be identified demonstrated that this specific element is sufficient for diagnosing DNTs and that the spectrum of DNTs includes a simple form with a unique glioneuronal element. Preoperative imaging follow-up data, in the series of 23 simple and complex forms, indicated that DNTs are perfectly stable. However, these tumours may show a high MIB 1 labeling index.

Brain Neoplasms↗
PubMed1998

Anaplastic large cell lymphoma: a concept reviewed.

The development of the concept of anaplastic large cell lymphoma is reviewed. The subtypes of the tumor proposed in the literature, including the so-called Hodgkin's-like variant, are discussed both on morphological and clinical grounds. The more recent information on the genetic and molecular characteristics of the tumor (i.e. 2;5 translocation, formation of the NPM/ALK hybrid gene, and production of a specific protein) are presented: their possible implications in the future classification and clinical management of the neoplasm are discussed.

Journal Article↗
PubMedDate not supplied

Classification and surgical treatment of dissecting aortic aneurysms.

A classification of dissecting aortic aneurysms is presented. It allows one to determine more accurately any given pathology in any patient. It helps the surgeon select the most appropriate operative variant and to define tactics of treatment. For example, to discuss the necessity of repeated reconstruction. Our clinical cases have confirmed it.

Aortic Dissection↗
PubMed1994

Hepatitis C virus genotypes: an investigation of type-specific differences in geographic origin and disease.

Because of the nucleotide sequence diversity of different isolates of hepatitis C virus, it has become important to clarify whether distinct genotypes of hepatitis C virus vary with respect to pathogenicity, infectivity, response to antiviral therapy and geographic clustering. We assessed nucleotide sequence variability in the 5' noncoding region of hepatitis C virus, using restriction enzymes to analyze the distribution of hepatitis C virus genotypes, in 80 patients with chronic hepatitis C virus infection. Genotypes were correlated with demographic, clinical and histological features. Thirty-seven patients were infected with type 1, 10 had type 2 and 8 had type 3, and another 23 were infected with a new distinct hepatitis C virus type now classified as type 4. Two were infected with variants whose classification are uncertain. Types 1, 2 and 3 were found in patients from the United Kingdom, southern Europe, Asia, Africa and South America. Nineteen of 23 type 4 genotype isolates were from Middle Eastern patients, compared with 0 of 37 type 1 isolates (p < 0.001). Of 21 Middle Eastern patients, 19 (90.4%) had type 4 hepatitis C virus (p = 0.001, odds ratio = 9). We found no significant difference between the mean ages or mean serum aminotransferase concentrations between the various types. Types 1, 2, 3 and 4 were found in patients with mild-to-moderate disease or severe disease. However, 21 of 29 (72.4%) patients with type 1 who underwent liver biopsy had severe chronic hepatitis, cirrhosis or hepatocellular carcinoma histologically; 8 had mild or moderate chronic hepatitis without cirrhosis (p = 0.03, odds ratio = 2.6).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2024

Obesity: exploring its connection to brain function through genetic and genomic perspectives.

Obesity represents an escalating global health burden with profound medical and economic impacts. The conventional perspective on obesity revolves around its classification as a "pure" metabolic disorder, marked by an imbalance between calorie consumption and energy expenditure. Present knowledge, however, recognizes the intricate interaction of rare or frequent genetic factors that favor the development of obesity, together with the emergence of neurodevelopmental and mental abnormalities, phenotypes that are modulated by environmental factors such as lifestyle. Thirty years of human genetic research has unveiled >20 genes, causing severe early-onset monogenic obesity and ~1000 loci associated with common polygenic obesity, most of those expressed in the brain, depicting obesity as a neurological and mental condition. Therefore, obesity's association with brain function should be better recognized. In this context, this review seeks to broaden the current perspective by elucidating the genetic determinants that contribute to both obesity and neurodevelopmental and mental dysfunctions. We conduct a detailed examination of recent genetic findings, correlating them with clinical and behavioral phenotypes associated with obesity. This includes how polygenic obesity, influenced by a myriad of genetic variants, impacts brain regions associated with addiction and reward, differentiating it from monogenic forms. The continuum between non-syndromic and syndromic monogenic obesity, with evidence from neurodevelopmental and cognitive assessments, is also addressed. Current therapeutic approaches that target these genetic mechanisms, yielding improved clinical outcomes and cognitive advantages, are discussed. To sum up, this review corroborates the genetic underpinnings of obesity, affirming its classification as a neurological disorder that may have broader implications for neurodevelopmental and mental conditions. It highlights the promising intersection of genetics, genomics, and neurobiology as a foundation for developing tailored medical approaches to treat obesity and its related neurological aspects.

Humans↗