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PubMed1983

Multiple meningiomas. Report of nine cases.

Multiple meningiomas are a seldom encountered neoplasm. Most authors report an incidence ranging from 1 to 3% of all meningiomas. The routine use of CT has resolved diagnostic problems involved with multiple meningiomas; nevertheless, they still present several nosologic problems. In fact, it may be difficult to differentiate "true multiple meningiomas", defined as a distinct entity by Cushing in 1938, from simple recurrences or the special variant (forme fruste) of von Recklinghausen's disease. Our report deals with nine cases of multiple meningiomas selected from a series of 372 meningiomas operated from 1968 to 1981 at our hospital. Cases were divided into a) multiple simultaneous meningiomas (five cases), b) multiple meningiomas successively detected at different localizations (two cases), and c) multiple meningiomas associated with neurofibromatosis (two cases). Only five of these nine cases, four from the first group and one from the second, were true multiple meningiomas. Pathogenetic factors related to true multiple meningiomas are discussed in relation to the literature reports. However, the different hypotheses proposed do not offer a definite explanation of the multicentricity of these tumours.

Adult↗
PubMed1988

Newer laboratory parameters for the diagnosis of rheumatic disease.

Measurement of serum autoantibodies is a useful adjunct in the diagnosis of connective tissue diseases. Approximately 15 percent of patients with rheumatoid arthritis are seronegative for rheumatoid factor by standard assays. The development of enzyme-linked immunosorbent assays for additional isotypic and idiotypic determinants may expand the diagnostic sensitivity of rheumatoid factor measurements. Although extremely sensitive, the finding of antinuclear antibodies is not highly specific for systemic lupus erythematosus and related disorders; the ability to rapidly screen serum against newly characterized specific nuclear antigens has been helpful in the diagnosis of newly described systemic lupus erythematosus subtypes, overlap syndromes, Sjögren's syndrome, and scleroderma variants. Women with unexplained recurrent fetal loss and patients with unexplained thrombotic episodes should be screened for the presence of the anticardiolipin antibody. Glycoproteins (C-reactive protein, alpha-1-glycoprotein, fibronectin) may prove useful as indicators of rheumatic disease activity and the efficacy of therapeutic intervention.

Antibodies↗
PubMed2001

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

BACKGROUND: It is estimated that about 5% -10% of breast cancer (BC) cases is due to inherited predisposition. Early works reported that 45%-50% of site-specific BC families had BRCA1 mutations and 25%-35% BRCA2 mutations. However, these percentages could have been overestimated and likely vary among the populations studied. PATIENTS AND METHODS: We analysed the BRCA2 gene in 87 Spanish breast/ovarian cancer families in which the BRCA1 mutation screening was negative. RESULTS: We detected 15 (17.2%) disease-causing mutations and 11 polymorphisms and unclassified variants. Four mutations were recurrent, and five were novel. Seven (47%) mutations were found in site-specific female BC families, five (33%) in families with OC cases, and three (20%) mutations in families with male BC cases. There was incomplete penetrance of the mutations in some families, and considerable phenotypic variations with respect to the age of diagnosis and cancer types. CONCLUSIONS: The percentage of mutations detected reinforces the possibility that some of these families have mutations in genes other than BRCA1 or BRCA2 that confer lower BC risks.

Adult↗
PubMed1992

Primary vascular tumors of lymph nodes other than Kaposi's sarcoma. Analysis of 39 cases and delineation of two new entities.

Primary vascular tumors of lymph nodes other than Kaposi's sarcoma are very rare, as attested to by only a handful of case reports in the literature. Based on an analysis of 39 such cases, we could distinguish five major groups. Hemangiomas of capillary/cavernous, lobular capillary, and cellular types were composed of compact aggregates of blood-filled vessels, variable in size, that replaced the nodal architecture partly or almost completely; some appeared to have originated in the hilum or medulla. These hemangiomas either represented incidental findings in lymph nodes or were seen with solitary lymph node enlargement; the evolution was benign with no recurrence. A distinctive benign lesion occurring exclusively in inguinal lymph nodes, which we propose designating "angiomyomatous hamartoma," showed replacement of the nodal parenchyma by smooth muscle cells and fibrous tissue, in continuity with exuberant proliferation of muscular vessels in the hilum. Epithelioid vascular tumors, characterized by plump endothelial cells with dense eosinophilic cytoplasm and numerous vacuoles, exhibited a range of differentiation, from hemangioma with well-formed vascular channels (with or without tissue eosinophilia) to hemangioendotheliomas composed predominantly of cords and sheets of tumor cells lying in a hyaline-myxoid matrix. Epithelioid hemangioendothelioma was particularly likely to be mistaken for metastatic carcinoma, and local recurrence could occur. A variant, the spindle and epithelioid hemangioendothelioma, was characterized by the presence of an additional component of spindle cells. Another tumor we found, polymorphous hemangioendothelioma, is a previously uncharacterized borderline malignant vascular tumor exhibiting solid, primitive vascular and angiomatous patterns and relatively bland cytologic features. Lymphangiomas of lymph nodes usually showed simultaneous multifocal and extra-nodal involvement and were characterized by cystic endothelium-lined spaces filled predominantly with lymph fluid. It is important to recognize these primary vascular tumors of lymph nodes to avoid mistaking them for a variety of benign vasoproliferative lesions, Kaposi's sarcoma, angiosarcoma, and metastatic cancer.

Adolescent↗
PubMed1989

Psychopathology, temperament, and past course in primary major depressions. 1. Review of evidence for a bipolar spectrum.

In reviewing recent findings on affective conditions in the interface of unipolar and bipolar disorders, we find evidence favoring a partial return to Kraepelin's broad concept of manic-depressive illness, which included many recurrent depressives and temperamental variants. This review addresses methodologic, clinical, and familial considerations in the definition and characterization of a proposed spectrum of bipolar disorders which subsumes episodic and chronic forms. Episodic bipolar disorders are subclassified into bipolar schizoaffective, and bipolar I and II, and bipolar III or pseudo-unipolar forms. Chronic bipolar disorders could be either intermittent or persistent, and are subclassified into chronic mania, protracted mixed states, and rapid-cycling forms, as well as the classical temperaments (cyclothymic, hyperthymic, irritable and dysthymic).

Bipolar Disorder↗
PubMed2006

Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas.

PURPOSE: To determine the frequency and the prognostic value of fibroblast growth factor receptor 3 (FGFR3) mutations in patients with nonmuscle invasive bladder tumors according to tumor stage and grade. PATIENTS AND METHODS: Seven hundred seventy-two patients with newly diagnosed bladder tumors were recruited. Tumors were reviewed by expert pathologists. Patients were prospectively followed-up (median, 62.6 months for disease-free patients) through review of hospital records and telephone interviews. The sequence of exons 7 and 10 of FGFR3 was analyzed by polymerase chain reaction and direct sequencing. We assessed the association of mutations with stage and grade. The predictive value of mutations for recurrence, progression, and mortality were assessed using Kaplan-Meier and Cox multivariable models. RESULTS: Mutations were more common among low malignant potential neoplasms (LMPN; 77%) and TaG1/TaG2 tumors (61%/58%) than among TaG3 tumors (34%) and T1G3 tumors (17%). The S249C, Y375C, S248C, and G372C mutations accounted for 91.5% of all sequence changes. The A393E substitution was associated with LMPN (P < .001). The F386L polymorphism was more frequent among patients with low-grade tumors (odds ratio, 6.97; 95%CI, 1.40 to 47.06; P = .009). In the multivariable analysis of all superficial tumors, mutations were associated with increased risk of recurrence. However, in the stratified analyses only patients with TaG1 tumors had a significantly higher risk of recurrence (hazard ratio, 2.12; 95%CI, 1.28 to 3.53; P = .004). CONCLUSION: The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.

Adult↗
PubMed2001

Miller Fisher syndrome: toward a more comprehensive understanding.

PURPOSE: To review recent knowledge on the clinical features, pathology and pathophysiology, diagnosis and treatment of Miller Fisher syndrome (MFS). DATA SOURCES: Clinical and laboratory studies on MFS in the past 10 years were included. RESULTS: A viral infection preceded neurological symptoms in 71.8% of MFS patients. Typical MFS consists of the triad of ataxia, areflexia and ophthalmoplegia. Other cranial nerves are also involved, which may overlap with limb weakness in typical Guillain-Barre syndrome (GBS). Lower cranial nerve variants of GBS, atypical MFS and ataxic neuropathies may overlap, and are thought of as variant forms of MFS. Recurrence and CNS involvement is found more frequently in MFS than in GBS. Antibody to GQ1b, a tetrasyaloganglioside (GQ1b antibody) which is found in close relation to ophthalmoplegia in MFS, is also associated with Campylobacter jejuni (C. jejuni) serotype Penner 2. This suggests that C. jejuni may induce MFS via the GQ1b structure. The GQ1b antibody may lead to the failure of acetylcholine release from motor nerve terminals, which has been confirmed by clinical neurophysiological results. CONCLUSIONS: Many studies have shown similarities in the pathogenesis of MFS and GBS. However, there are still some differences between them, especially in the areas of sensory and CNS involvement. The GQ1b antibody is thought of as one of the key factors in the pathogenesis of MFS, especially with ophthalmoplegia, and it may prove a useful clinical marker in the diagnosis of MFS.

Central Nervous System↗
PubMed2002

Variations in the subclavian-axillary arterial system.

OBJECTIVE: The objective of this study is to report on the subclavian axillary arterial system variations observed in the dissecting room. METHODS: The morphological study of 106 formalin fixed upper limbs of adult human cadavers of both sexes was carried out at human anatomy laboratory of College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia over a 5 year period, to observe the distribution pattern of the subclavian axillary arterial system. RESULTS: The arterial variations in the upper extremities are quite common and may occur at the level of the thoracic outlet, axilla, arm, cubital fossa and the hand. In the present study, the anomalous topographic pattern of the subclavian axillary arterial system was revealed in 7.5% of the cadavers, whereas 92.5% exhibited classical pattern of the regional arterial anatomy. The study showed: 1. An aberrant right subclavian artery arising from the arch of aorta, distal to the left subclavian artery. 2. A bilateral common subscapular-circumflex humeral trunk (3.8%) emerging from the 3rd part of the axillary artery (branching into the circumflex humeral and thoracodorsal arteries. 3. A bilateral thoracohumeral trunk arising from the 2nd part of the axillary artery (1.9%) and branching into the lateral thoracic, circumflex humeral, subscapular and thoracodorsal arteries. These anomalies were accompanied by anomalous insertion of flexor digitorum superficialis muscle, a bilateral digastric muscle formed by the abductor pollicis longus and brevis, and an anomalous formation of median nerve by 3 roots. CONCLUSION: The aberrant right subclavian artery associated with right non-recurrent laryngeal nerve and variant branching pattern of the axillary artery are of interest to anatomists, surgeons and radiologists and suggested that these anomalies must be evaluated pre-operatively.

Journal Article↗
PubMed2002

Variations in the subclavian-axillary arterial system.

OBJECTIVE: The objective of this study is to report on the subclavian axillary arterial system variations observed in the dissecting room. METHODS: The morphological study of 106 formalin fixed upper limbs of adult human cadavers of both sexes was carried out at human anatomy laboratory of College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia over a 5 year period, to observe the distribution pattern of the subclavian axillary arterial system. RESULTS: The arterial variations in the upper extremities are quite common and may occur at the level of the thoracic outlet, axilla, arm, cubital fossa and the hand. In the present study, the anomalous topographic pattern of the subclavian axillary arterial system was revealed in 7.5% of the cadavers, whereas 92.5% exhibited classical pattern of the regional arterial anatomy. The study showed: 1. An aberrant right subclavian artery arising from the arch of aorta, distal to the left subclavian artery. 2. A bilateral common subscapular-circumflex humeral trunk (3.8%) emerging from the 3rd part of the axillary artery (branching into the circumflex humeral and thoracodorsal arteries. 3. A bilateral thoracohumeral trunk arising from the 2nd part of the axillary artery (1.9%) and branching into the lateral thoracic, circumflex humeral, subscapular and thoracodorsal arteries. These anomalies were accompanied by anomalous insertion of flexor digitorum superficialis muscle, a bilateral digastric muscle formed by the abductor pollicis longus and brevis, and an anomalous formation of median nerve by 3 roots. CONCLUSION: The aberrant right subclavian artery associated with right non-recurrent laryngeal nerve and variant branching pattern of the axillary artery are of interest to anatomists, surgeons and radiologists and suggested that these anomalies must be evaluated pre-operatively.

Adult↗
PubMed2000

Recurrent myelinoclastic diffuse sclerosis: a case report of a child with Schilder's variant of multiple sclerosis.

Myelinoclastic diffuse sclerosis (MDS, Schilder's disease) is a rare CNS demyelinating disorder affecting mainly children and usually presenting as an intracranial mass lesion. We report the first case of recurrent intracranial MDS where the third episode of demyelination involved the cervical spinal cord. This may represent a subset of the disease, which should be considered as Schilder's variant (childhood form) of multiple sclerosis.

Child↗
PubMed2005

Cellular and reticular variants of haemangioblastoma revisited: a clinicopathologic study of 88 cases.

The presence of histological variants of haemangioblastoma is well established, but data on the prognostic implications of histological subtyping are missing. We thus characterized clinical factors associated with histological subtypes, that is, of the cellular and reticular variant of haemangioblastoma, in a series of 88 consecutive primary haemangioblastomas of the central nervous system. Ten haemangioblastomas were classified as 'cellular' according to Cushing and Bailey. As compared to the more common 'reticular' variant (n = 78), the proportion of tumours containing glial fibrillary acidic protein-positive tumour cells (80% vs. 7%), as well as median Ki67 (MIB1) proliferation indices [4% (quartiles: 1-8%) vs. < 1% (<1-2%)], was significantly higher in cellular haemangioblastomas (P < 0.01). Recurrences were more frequent in the cellular variant [2/8 (25%) vs. 4/51 (8%)]. Kaplan-Meier analysis confirmed a significantly higher probability of recurrence in the cellular variant (Log-Rank test P < 0.01). Cox regression analysis not only confirmed the well established association of von Hippel-Lindau disease with tumour recurrence (P < 0.01), but also revealed an independent effect of histological subtype on the probability of recurrence (P < 0.05), whereas no significant influence of age, sex or tumour location was observed. To conclude, the results from this retrospective study suggest that histological subtyping of haemangioblastomas has prognostic implications and might contribute to identify patients at risk for recurrence.

Adolescent↗
PubMed1979

[Clinico-morphological characteristics of recurrent myocardial infarct with lethal outcome].

The work is based on the results of follow-up of 656 patients with myocardial infarction who survived the first 72 hours after the attack. The disease followed a recurrent course in 105 persons (16.1%), 32 (30.4%) of whom died. Nine (1.6%) out of 551 patients who had no recurrence of the disease died. Recurrent necrosis was the principal cause of hospital mortality in myocardial infarction, with death occurring 3 days after the onset of the disease. The clinical picture of recurrent myocardial infarction with a lethal outcome is characterized by a high incidence of the predominance of the asthmatic and arrhythmic variants. The morphologic picture of recurrent myocardial infarction is characterized by the predominance of colliquative necrosis, large foci of myocardial "injury" in the perinecrotic zone, and poorly demonstrated proliferative processes.

Aged↗
PubMed2004

Long-term response to lithium salts in bipolar illness is influenced by the glycogen synthase kinase 3-beta -50 T/C SNP.

The molecular mechanisms driving the biological clock in the suprachiasmatic nucleus of the hypothalamus may play a role in mood disorders. A single nucleotide polymorphism (SNP) (-50 T/C) falling into the effective promoter region (nt -171 to +29) of the gene coding for glycogen synthase kinase 3-beta (GSK3-beta) has been linked with different age at onset of bipolar illness and with different antidepressant effects of total sleep deprivation. GSK3-beta codes for an enzyme which is a target for the action of lithium and possibly of valproic acid. We studied the effect of this polymorphism on the therapeutic response to lithium salts of 88 bipolar type I patients. Data about recurrence rate of mood episodes were collected for at least 2 years before lithium and 2 years on lithium. Results showed that homozygotes for the wild variant did not change their recurrence index while carriers of the mutant allele improved, thus supporting the hypothesis that GSK is a target for the therapeutic action of lithium. Results warrant interest for the variants of genes pertaining to the molecular clock as possible endophenotypes of bipolar disorder, but caution ought to be taken in interpreting these preliminary results and future replication studies must be awaited because of the low frequency of the GSK3-beta*C/C genotype in the studied populations.

Adult↗
PubMed2004

[Clinico-pathogenetic variants of chronic gastritis].

AIM: To evaluate specific features of the course of chronic gastritis (CG), morphofunctional condition of gastric mucosa, vegetative regulation, adrenergic and cholinergic shifts, histamine metabolism and effects of exogenic and endogenic risk factors in CG patients; to study clinicopathogenetic variants of CG. MATERIAL AND METHODS: A total of 311 CG patients aged from 16 to 72 years were studied. They were divided into three groups by their gastric mucosa condition. The control group consisted of 30 healthy donors. The following parameters were studied: visual and histological condition of gastric mucosa, total acidity, the levels of free hydrochloric acid, pepsin, bioelectric gastric activity, general autonomic tonicity, cholinesterase activity. RESULTS: Three clinicopathogenetic variants of the disease have been identified. Variant 1 was characterized by a recurrent course, subjective manifestation of the disease only in exacerbation, surface (primarily antral) mucosal affection, normal or enhanced secretory and motor functions of the stomach, adequate reaction of acid production to caffeine and histamine stimulation, parasympathicotonia, absolute hyperhistaminemia, relative hypoacetylcholinemia, subnormal urinary excretion of adrenalin. Variant 2 manifested with rare recurrences, longer and more severe exacerbations, frequent spontaneous and provoked aggravations, moderate focal atrophy of the mucosa, secretory insufficiency with adequate reaction to histamine and minor to caffeine stimuli, hypomotor gastric dyskinesia, vegetative eutonia, normohistaminemia, absolute hypoacetylcholinemia, subnormal urinary excretion of noradrenaline. Variant 3 runs without definite remissions and exacerbations, with continuous abdominal pain and dyspepsia, frequent spontaneous aggravations, marked extended mucosal atrophy with secretory insufficiency up to achlorhydria, no stimulation of acid production in response to caffeine and histamine, gastric hypomotility, sympathicotonia, absolute hypohistaminemia, hypoacetylcholinemia, normal urinary excretion of catecholamines. CONCLUSION: The findings expand our knowledge about clinicopathogenetic variants of CG and necessitate new approaches to development of effective methods of CG prevention and treatment.

Acetylcholine↗