Epileptic dizziness.

Clinical and electroencephalographic features and the response to treatment of 30 patients with episodic dizziness due to epilepsy were noted. The symptom consisted of a brief episode of disequilibrium, often with a sensation of rotation, without evident precipitating factors or sequelae. A history of "absences" or other features suggestive of temporal lobe epilepsy was elicited in over half the patients, and seven (almost a quarter) had had one or more generalized seizures before presentation. Electroencephalography showed a posterior temporal lobe focus in all but two patients, and there was a family history of epilepsy in six. Response to treatment with phenytoin or carbamazepine was good in most patients. Epilepsy should be considered in the differential diagnosis of episodic dizziness or vertigo, especially in young people.     

Prediction of gall-stone pancreatitis by computer.

The clinical features at presentation of 53 patients admitted with primary acute pancreatitis due to gall stones were compared with those of 31 patients in whom the disease was due to other causes. Between these two groups 10 significant differences existed. By listing the frequency of symptoms and signs for each group a computer data base was prepared and incorporated into a program used in the differential diagnosis of acute abdominal pain. A program written to predict the presence of gall stones in patients with acute pancreatitis was accurate in 92% of the patients studied. A predictive index devised from the presence of three of the significantly differing clinical features correctly identified 82% of patients with gall-stone pancreatitis. Predicting the presence of gall stones on admission by analysing the presenting symptoms and signs with a computer had an accuracy comparable to that of ultrasonography or radiology and may be of value in the management of patients with acute pancreatitis.     

Adverse reactions to acetylcysteine and effects of overdose.

Since the introduction in 1979 of intravenous acetylcysteine (Parvolex) as an antidote for overdosage of paracetamol the National Poisons Information Service and the manufacturer have been notified of 38 adverse reactions that were anaphylactoid in nature and 19 accidental overdoses. The most common feature of the anaphylactoid reaction to normal dosage was rash; other features reported included angioedema, hypotension, and bronchospasm; all the patients recovered. The features associated with an overdose of acetylcysteine were similar but more severe; two patients died, but the extent to which the overdose of acetylcysteine may have been implicated was not clear in either case.     

Value of renal biopsy in acute intrinsic renal failure.

Eighty-four patients presented with acute renal failure and features suggesting a diagnosis of intrinsic renal disease other than "acute reversible renal failure." Renal biopsy proved valuable in establishing the diagnosis, in indicating the reversibility of the lesion, and in helping to decide on treatment.     

Purpura associated with hypergammaglobulinemia,renal tubular acidosis and osteomalacia.

Two patients with hyperglobulinemia associated with purpura were studied. One had features of Sjögren''s syndrome, while the other appeared to have a primary condition -- "chronic benign purpura". Both patients also had renal tubular acidosis, osteomalacia and renal calculi, with disturbed calcium metabolism and acid-base balance. Autoantibodies were detected in the serum of both patients, and mononuclear cell infiltrates were noted in skin and kidney biopsies from both.     

Two unusual pilin sequences from different isolates of Pseudomonas aeruginosa.

The pilin genes of two Pseudomonas aeruginosa strains isolated from two different patients with cystic fibrosis were cloned and sequenced. The predicted protein sequences of these two pilins had several unusual features compared with other published P. aeruginosa pilin sequences.     

Identification of adverse reactions to new drugs. III: Alerting processes and early warning systems.

The process of discovery for 18 important adverse drug reactions was analysed in terms of study designs and other features which determined whether published reports of suspected adverse reactions were convincing or provided valid evidence of causality. First alerts were almost always anecdotal reports. For earlier alerting during clinical trials event recording is needed, associated with dose-response data and the use of patients as their own controls.     

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome.     

Transbronchial lung biopsy through fibreoptic bronchoscope in diagnosis of sarcoidosis.

Sarcoidosis was ultimately diagnosed in a consecutive series of 79 patients, of whom 24 presented with unusual features. Histological support for this diagnosis was obtained in 37 out of 42 patients who underwent transbronchial biopsy; epithelioid and giant-cell granulomas were also found on biopsy of the bronchial mucosa in 17 out of 22 patients. Kveim tests were completed in 44 patients: results were positive in 19, equivocal in 11, and negative in 14. In 16 patients histological support was obtained on biopsy of various other tissues. The clinical presentation of the disease and the degree of histological support provided by the various procedures used in reaching a diagnosis of sarcoidosis varied considerably. Transbronchial biopsy of the lung is a useful advance in diagnosing sarcoidosis and provided a higher diagnostic yield than any other method.     

Mixed connective tissue disease. A clinico-serological study of 17 cases

Mixed connective tissue disease (MCTD) was described as a distinct clinical syndrome in 1972. Since then many cases have been reported in the literature worldwide. In this study we present our experience with a group of 17 Mexican patients with this syndrome, and we analyze their clinical and serological features, as well as the causes of death in these patients. The patients are Mexican mestizos living in Guadalajara and most of them have been followed-up at Hospital General de Occidente for a period of 1–10 years. The female/male ratio was 16:1, and their age ranged from 14–55 years with a mean of 29 years. The disease duration has ranged from 1–17 years, with a mean of 6 years. Among the clinical manifestations we have found a high frequency of lymphadenopathy when compared with published series (13/17 or 76%), and the laboratory findings in our patients included a very high polyclonal increase of gammaglobulins (93%), lymphopenia (76%), direct immunofluorescence speckled nuclear epidermal deposits in skin biopsies (75%) and positive rheumatoid factor (65%). Other clinical and serological features were similar to those reported in other series of patients with MCTD. Six of the 17 patients have died (35%), and in 3 of them (17.5%) the cause of death was due to an infectious disease that suddenly presented, and apparently was not related to a concomitant high dose of steroids or malnutrition in the patients. It seems that in addition to the already well known autoimmune abnormalities that occur in MCTD, there are other features like the presence of lymphadenopathy, the high polyclonal increase of gammaglobulins, and the lymphopenia, that reflect the profound disturbance of the immune system in this syndrome, possibly contributing to the sudden appearance of a severe infectious disease in some of our patients.Abbreviations ANA antinuclear antibody - CIE counterimmunoelectrophoresis - MCTD mixed connective tissue disease - PHA passive hemagglutination - PM polymyositis - RF rheumatoid factor - SLE systemic lupus erythematosus - SS systemic sclerosis (SS)     

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

In order to determine the frequency and characterization of hypopigmentation in Prader-Labhart-Willi syndrome (PLWS), clinical, cytogenetic and biochemical findings are reported in 56 PLWS individuals. Forty-eight percent of the individuals with PLWS met the criteria for hypopigmentation. Hypopigmentation in PLWS individuals appears to be as common as previously recognized features such as behavioral problems and dental abnormalities. Significant differences in hair color, sun sensitivity, and complexion were found between those PLWS patients with the chromosome 15 deletion and those with normal chromosomes. Individuals with the deletion frequently had lighter hair color, more sun sensitivity, and fairer complexion than did either other family members or nondeletion PLWS patients. No significant differences in biochemical findings (phenylalanine, tyrosine, catecholamines, or beta-melanocyte-stimulating hormone) were found between deletion and nondeletion PLWS patients or between hypopigmented and normally pigmented patients. The data suggest that a gene(s) controlling the activity of tyrosinase or other enzymes required for melanin production is located on proximal 15q.     

Lichenoid tattoo hypersensitivity.

Four patients are described who developed granulomatous reactions in the red portions of their tattoos. Histopathological and immunofluorescence studies showed features of lichen planus. Mercury was identified in only one patient''s lesion, and hypersensitivity to mercury was shown by patch testing in one other patient. Tattooing may provide a localised antigenic challenge resulting in spontaneously occurring lichen planus.     

Nodular regenerative hyperplasia of the liver: diagnosis by liver biopsy.

Specimens of liver obtained by needle biopsy from two patients with rheumatoid arthritis showed features of nodular regenerative hyperplasia. In one patient the nodularity was apparent on gross examination of the specimen. Portal hypertension was present in the other patient. The cause and pathogenesis of the disorder are poorly understood.     

Clinitest ingestion.

Eight patients who had ingested Clinitest tablets were seen in one hospital over four years. Nineteen reported cases were also reviewed. Clinitest ingestion seems to be more common than was thought. Gastric lesions are common, though the frequency of serious sequelae has been overestimated in reports. Some features of Clinitest ingestion differ from those produced by ingesting other alkalis. These include a higher frequency of adult and accidental ingestion, a lower prevalence of pharyngeal lesions, and oesophageal strictures that tend to be more proximal, shorter, and earlier in onset. The incidence of accidental ingestion by adults would probably be reduced if other methods of testing urine were used in patients who are likely to misunderstand instructions or mistake the tablets for others and if Clinitest tablets could be made in a distinctive size and shape.     

Staphylococcus aureus meningitis: 26 years' experience at Vancouver General Hospital.

The records of all patients with Staphylococcus aureus meningitis admitted to Vancouver General Hospital between 1956 and 1981 were reviewed. All the patients had clinical and laboratory features of meningitis, and in all cases S. aureus was isolated from the cerebrospinal fluid. S. aureus was responsible for 21 (3%) of the 710 cases of acute bacterial meningitis. Therapy with cloxacillin or methicillin, or both, with or without other agents, was successful in 14 of the 21 patients. Three of the 14 patients without ventricular shunts died, 2 with fulminating septicemia and 1 with a postoperative brain abscess treated with cloxacillin. Following shunt removal and antibiotic therapy all seven patients with ventricular shunts survived the infection. Shunt removal may therefore be essential in appropriate cases.     

Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience

During the last 5 years, we diagnosed in Leuven 130 patients with a 22q11 deletion. The deletion was familial in 14 out of 110 index patients (12%), which is significantly less compared to previous studies. In 10 patients, the deletion was maternal, in 4 patients paternal. A cardiac defect was the main presenting symptom in 49% of patients. The other patients were ascertained through developmental delay (16%), behavioural disturbances (7%), otorhinolaryngological manifestations (6%), psychiatric manifestations (3%) and mental retardation (2%). In one patient hypocalcemia was the presenting symptom. In another patient the severe immune deficiency led to diagnosis. Most patients presented a wide variety of the classical features of the Velo-Cardio-Facial syndrome. Velopharyngeal incompetence, learning difficulties or mostly mild mental retardation were almost always present, whereas clinical significant hypocalcemia or immune disturbances were rare. Previously un(der)recognised features include polyhydramnios, renal malformations and laryngotracheamalacia or laryngeal stenosis.     

Marker features for malignancy in ectocervical cells. Statistical evaluation

Marker features for malignancy have recently been observed in ectocervical cells, even in cells that are visually normal in appearance. This study assessed the statistical significance of these marker features using a mixed-model nested-design analysis of variance (ANOVA). Features in blue intermediate cells from patients with normal cytology, moderate dysplasia, and severe dysplasia/carcinoma in situ, nonkeratinizing cells from patients with moderate dysplasia, severe dysplasia/carcinoma in situ, and invasive cancer, and dysplastic cells from areas of metaplasia from patients with moderate dysplasia, severe dysplasia/carcinoma in situ, and invasive cancer were tested. ANOVA clearly demonstrated that the marker features differentiate between cells of the same cell type originating from patients in different diagnostic categories. In every instance, the differences owing to the diagnostic category were statistically significantly greater than those caused by patient-to-patient variability. Although the discriminating marker features in the intermediate cells were almost exclusively spectral features reflecting staining differences, morphometric features were also marker features in the dysplastic cells.     

Imported and autochthonous kala-azar in France.

OBJECTIVE--To study the epidemiological, clinical, and biological features of imported and autochthonous kala-azar in France. DESIGN--Prospective survey of all patients in France with kala-azar diagnosed over the two years 1986-7. Information was obtained from parasitology laboratories in regional hospitals and all hospital laboratories and haematology departments capable of diagnosing leishmaniasis in the south of France. SETTING--107 public hospitals in France. PATIENTS--89 patients with kala-azar. INTERVENTIONS--All patients were treated with drugs. In the first instance meglumine antimonate was given to all but two patients. MAIN OUTCOME MEASURES--Prevalence of the various clinical and biological features of kala-azar; proportion of patients with HIV infection. RESULTS--Half (44) of the patients were children under 8 years old. Seventy patients acquired the disease in France. Imported kala-azar was acquired mainly in Mediterranean countries (9/18 cases). Only 46 (52%) of the patients had all three of the classic associated clinical features of fever, splenomegaly, and hepatomegaly. Anaemia was the commonest biological sign, and the association of the four usual biological signs--anaemia, leucopenia, thrombocytopenia, and hypergammaglobulinaemia--was present in only 14 (33%) of the children under 8 and 26 (60%) adults. Fourteen of the patients over 8 years old were infected with HIV. CONCLUSION--Doctors must be aware of kala-azar in Mediterranean areas, especially as patients often present without the characteristic features and the disease affects young children preferentially.     

Differences between neurological and neurosurgical approaches in the management of malignant brain tumours.

The management and outcome in 205 patients diagnosed as having cerebral gliomas over five years were reviewed. Patients referred to neurologists and neurosurgeons had similar clinical features and similar results on computed tomography. Patients referred to neurologists underwent burr hole biopsy less often and had better short term morbidity than patients referred to neurosurgeons, although final outcome was the same in both groups. Few patients underwent other surgical procedures. Referral for radiotherapy was usually by neurosurgeons, although this did not significantly affect long term survival. The implications for the management of patients with primary malignant brain tumours and the need for prospective studies are discussed.     

Cytomorphology of subependymal giant cell astrocytoma.

The cytomorphology of three subependymal giant cell astrocytomas (SEGA) is described. The tumors occurred in the left lateral ventricle of three males with tuberous sclerosis. The often-polarized spindle and epithelioid tumor cells possessed dense eosinophilic cytoplasm, eccentric nuclei and visible, occasionally prominent nucleoli. In addition, they displayed thick or hairlike processes and had a distinct tendency to form cohesive clusters as well as pseudorosettes. Occasional binucleate and multinucleate cells, as well as "strap" cells and nuclear cytoplasmic inclusions, were further features of this unique tumor. In cytologic terms the principal differential diagnostic considerations include gemistocytic astrocytoma, giant cell glioblastoma and ependymoma. Since, in isolation, SEGA may represent a "forme fruste" of tuberous sclerosis and since patients with tuberous sclerosis may have brain tumors other than SEGA, it is of diagnostic importance to recognize the cytomorphologic features of this essentially benign brain tumor.