Coronary sinus thrombosis and myocardial infarction secondary to ventriculoatrial shunt insertion

Coronary sinus thrombosis was found at necropsy in a girl with spina bifida who underwent ventriculoatrial shunt revision. There was secondary myocardial infarction, close to the conducting system within the interventricular septum. We suggest that this led to cardiac arrest and sudden death.     

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.

We report on eight patients from seven different families affected with a syndrome which includes thumb defects, short stature, microcephaly, and mental retardation. Most of the patients had additional malformations, in particular amenorrhoea and azoospermia in the adults. There were no haematological manifestations and the chromosomes were normal without evidence of breakage even after stimulation. In five of the cases the probands' mother received hormonal treatment before or at the beginning of her pregnancy or both. The syndrome may be inherited as an autosomal recessive trait since the patients included both males and females and their parents were related in most cases. In addition, supporting this possibility, they all originated from a small village which may be considered as an isolate. However, in all cases but one, only one person was affected in each family and there was a significant apparent excess of healthy sibs of the probands. These observations may be the result of the variability of the syndrome or a more complex type of inheritance.     

Surgical management of facial palsy

Patients with facial palsy present with a multitude of different problems to which individual solutions must be carefully tailored. Although numerous surgical options exist, the results of reconstruction are rarely ideal. This article discusses different surgical procedures for reconstruction of the eye and mouth with special emphasis on the newer technique of microsurgical transfer of muscle tissue for reanimation.     

Renal vein renin analysis: Limitations of its use in predicting benefit from percutaneous angioplasty

Two hundred forty-four consecutive patients (mean age 61 years), including 123 who had technically valid renal vein renin (RVR) analysis and 121 without RVR data, underwent technically successful percutaneous renal artery angioplasty (PTRA). They were retrospectively examined to evaluate the utility of RVR analysis in identifying renal hypertension (RVH), predicting benefit from PTRA, and determining if the lack of knowledge of renin levels significantly affected clinical outcome after PTRA. Abnormal RVR values were associated with clinical benefit after PTRA in 62 of 93 patients (67% sensitivity, 20% specificity, 72% positive predictive value). Clinical improvement following PTRA occurred in 31 of 37 patients with normal pre-PTRA RVR values (16% negative predictive value). RVR analysis correctly identified 86 of 117 patients with renovascular hypertension (74% sensitivity, 16% negative predictive value). Improved blood pressure (BP) control occurred in 72% with abnormal RVR analysis and 66% of the 121 patients without RVR data (p>0.1). We conclude that the very low negative predictive value significantly limited the use of RVR analysis in this elderly (mean age 60 years) patient population with a high incidence of mild renal functional impairment (mean serum creatinine 1.4 mg/dl) and bilateral renal artery stenosis (38%). The lack of pre-PTRA renin data did not significantly affect clinical outcome. If RVR data were relied upon as the exclusive selection criterion in patients of this type, many would be prevented from having the benefit of cure or improvement by PTRA.     

Bronchiectasis following colectomy for Crohn's disease

Bronchiectasis developing following colectomy for ulcerativecolitis has been reported in a few cases. This may be the first reportof bronchiectasis developing after colectomy for Crohn's disease. Theclose temporal relationship to colectomy, lack of bacterial pathogensin the sputum, and an impressive response to oral steroids suggest adifference in pathogenesis from idiopathic bronchiectasis.

     

Choosing drug use measures for treatment outcome studies. II. Timing baseline and follow-up measurement

The use of different approaches to measurement in drug abuse treatment outcome studies has resulted in a lack of comparability across studies. This paper reviews different approaches to timing of baseline and follow-up periods and to dealing with time periods during which follow-up subjects are not "at risk" for drug use. Length and timing of baseline and follow-up periods are considered as well as periods of time within which specific drug use outcomes are measured. It is suggested that research focus on describing the natural course of drug use both prior to and following treatment, in order to determine the most appropriate length and timing of follow-up periods. It is recommended that investigators report drug use data from both "at risk" and "not at risk" periods, and that they choose methods of controlling for time "at risk" which do not eliminate important drug use data from analyses.     

Detection bias in the diagnostic pursuit of lung cancer

Autopsy studies have shown that lung cancer is often not detected during life and that a correct antemortem diagnosis is made preferentially in patients with pulmonary symptoms, in smokers, and in men. The current research was done as a case-control study to determine whether the autopsy suggestions of detection bias in diagnostic pursuit of lung cancer were confirmed by the way that sputum Papanicolaou smears (Pap smears) were ordered in an inpatient setting. The cases were 385 hospitalized patients in whom sputum Pap tests had been newly performed from October 1977 to September 1980. Each case was matched by age, admission date, and admission diagnosis to a control patient who had not received a Pap test. Excluded from the study were patients in whom sputum Pap tests were obligatory (e.g., those with manifestations of hemoptysis) or unnecessary (e.g., those with a previous diagnosis of lung cancer or multiple previous sputum Pap tests). Demographic data, amount and duration of cigarette smoking, and details of clinical manifestations were extracted from the patients' medical records by research assistants blind to the study hypothesis. Compared with controls, the cases had distinctive elevations in odds ratios for chronic cough, recent cough, male sex, and cigarette smoking, which also showed a distinctive dose-response relation. In multivariate analyses, all four of these "risk factors" for selective ordering of a sputum Pap smear remained independently highly significant. In the extreme category, men who smoked and coughed were 22 times more likely to have a sputum Pap test ordered than were nonsmoking women who did not cough. Clinically, the results suggest that women and nonsmokers may be deprived of appropriate diagnosis and therapy unless a diagnostic workup for lung cancer is guided mainly by radiographic findings and presenting manifestations. Statistically, detection bias has probably led to an excessively elevated magnitude for the cigarette smoking-lung cancer association and to a falsely low estimate of incidence rates in women.     

Genetic testing for hearing loss: different motivations for the same outcome

Autism is a complex genetic disorder. Chromosome 15 is of particular interest in this disorder, because of previous reports of individuals with autism with chromosomal abnormalities in the 15q11-q13 region. Transmission disequilibrium between polymorphisms in this region and autism has been also been reported in some, but not all studies. Recently, a novel maternally expressed gene, ATP10C, was characterized and mapped to the chromosome 15q11-q13 region, 200 kb distal to UBE3A. It encodes a putative aminophospholipid translocase likely to be involved in the asymmetric distribution of proteins in the cell membrane. Preferential maternal expression has been demonstrated in fibroblasts and brain. Because of its physical location and imprinting pattern, ATP10C was considered to be a candidate gene for chromosome 15-associated autism. In an effort to find the genes responsible for autism in this chromosomal region, 1.5 kb of the 5' flanking region, as well as the coding and splicing regions of ATP10C, were screened for sequence variants. Several polymorphic markers including five nonsynonymous SNPs were identified. To investigate transmission disequilibrium between ATP10C and autism, a family-based association study was conducted for 14 markers in 115 autism trios. No significant transmission disequilibrium was found, suggesting ATP10C is unlikely to contribute strongly to susceptibility to autism in these families. However, due to limited power to detect genes of modest effect, the possible functional role of the nonsynonymous SNPs and the functional implications of the SNPs identified from 5' flanking region and intron 2 splicing region may be evaluated in further studies.     

An experimental inter-expert telepathology network using static imaging

AIMS: To set up a network for remote consultation using static imaging telepathology via Internet connection between pathologists in different European countries, and to collect some numerical and subjective impressions on the usefulness of this form of telepathology. METHODS: A static image remote consultation network between 11 pathologists in nine European countries was set up; all pathologists were equipped with the same telepathology system. The pathologists formed three subject oriented subgroups concerned with prostate, melanoma, and soft tissue sarcoma pathology. Each pathologist sent and received a small number of cases, and data on each case were collected and analysed. The whole experiment was controlled through a World Wide Web site. RESULTS: A total of 56 case consultations on 34 different cases were exchanged. The average case document contained seven images, and contained 1.97 Mbytes of data. For cases in which data were recorded, average case preparation and remote consultation time was 55 minutes and 9.2 minutes, respectively. Transmission times averaged 3.9 minutes. In subjective impressions, reservations were expressed in several cases regarding the confidence that could be given to the diagnosis from the images presented. CONCLUSIONS: Remote consultation by telepathology via the Internet is now technically feasible and reasonably user friendly, but is only suitable as a method of disease diagnosis in some cases.