Study of the conduction system in a population of patients with sudden infant death syndrome

Summary The conduction system of 23 infant hearts, 15 of sudden infant death syndrome (SIDS) and eight of those dying from known cause, was serially sectioned. A left-sided His bundle was found more commonly in (SIDS) (eight of 15) than in the controls (two of eight). Taking into account a previous study in which a left-sided His bundle was found in only four of 32 hearts from all age groups, this is statistically significant and may be a factor promoting SIDS.This research was aided by grant HL-30558-02 from the National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland.     

Trends in Belgian premature avoidable deaths over a 20 year period

STUDY OBJECTIVES: To analyse over a 20 year period the level and trends in the "EC avoidable death indicators". DESIGN: The Years of Potential Life Lost (YPLL) method applied to curative and preventive avoidable mortality indicators in Belgium for four successive five year periods, countrywide as well as by district, separately for women and men. Ratios of YPLL rates (age standardised) describe changes between 1974-78 and 1990-94. SETTING: Belgium for the periods 1974-78, 1980-84, 1985-89, 1990-94. PARTICIPANTS: All avoidable death cases aged 1-64. MAIN RESULTS: Ratio of YPLL rates indicated a more favourable development between 1974-78 and 1990-94 in the EC avoidable indicators than in all causes premature mortality. The EC avoidable mortality indicators have been assigned to two categories, curative indicators and preventive indicators. The best ratio of YPLL rates was found in curative indicators for men but the largest gains in YPLL rates over the periods come from the "preventive indicators" in men. For women, malignant neoplasm of the breast rose to the first ranked in 1985-1989 and 1990-1994, where it contributed to more years of YPLL loss than motor vehicle accidents, and malignant neoplasm of the trachea, bronchus and lung had risen to the fifth ranked since 1985-89. The order of the top causes for men did not change between 1974 and 1994, except for cirrhosis of liver, which rose from the fifth to the fourth rank. In the particular case of one "preventive indicator", malignant neoplasm of the trachea, bronchus and lung, the regional analysis of time trend between 1974-78 and 1990-94 showed more districts with a favourable development for both men and women in the Flemish region than in Wallonia. CONCLUSION: The YPLL method combined with the avoidable mortality indicators enabled us to compare the changes of curative and preventive EC avoidable indicators between 1974-78 and 1990-94. In the case of malignant neoplasm of the trachea, bronchus and lung, which is of major concern to the health promotion policies, changes over the periods have widened a "north/south" health contrast.     

Direct entry of the right superior vena cava into the left atrium with aneurysmal dilatation and stenosis at its entry into the right atrium with stenosis of the pulmonary veins: A rare case

Summary This is the first autopsied case reported in the English language literature wherein the right superior vena cava entered both atria with obstruction of the entry into the right atrium, aneurysmal dilatation of the proximal part of the superior vena cava, and entry of the stenosed right upper pulmonary vein into the aneurysmal sac. The aneurysmally dilated right superior vena cava communicated directly with the left atrium. In addition, the remainder of the pulmonary veins, all of which were markedly stenosed, entered the left atrium. The embryogenesis of this unique malformation is briefly discussed. Aided by grant HL 30558-01 from the National Heart, Lung and Blood Institute of the National Institutes of Health, Bethesda, Maryland.     

Schwannoma of a seminal vesicle

We present the first reported case of a schwannoma of the seminal vesicle that occurred in a 48-year-old man who presented with right lower quadrant abdominal pain. Computed tomography scan and magnetic resonance imaging revealed a mass in the patient's right seminal vesicle. The patient was also found to have a rising prostate-specific antigen level and underwent a transrectal ultrasound-guided biopsy of the prostate and seminal vesicles, which revealed prostate cancer and schwannoma of the seminal vesicle, respectively. Radical prostatectomy with en bloc removal of the seminal vesicle mass was performed and the patient has been free of disease 24 months postoperatively.     

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment

Mutations in desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin-reactive deposits and electron-dense granular aggregates. We characterized two new desminopathy families with unusual features of adult-onset, slowly progressive, diffuse skeletal myopathy and respiratory insufficiency. Progressive reduction of respiratory muscle strength became clinically detectable between the 3rd and the 8th years of illness and led to recurrent chest infections and death in one of the patients. Novel mutations, A357P and L370P, predicted to introduce proline residue into a highly conserved alpha-helical region of desmin, were identified. Proline is known to disrupt the alpha-helix. In addition, the A357P mutation distorts a unique stutter sequence that is considered to be critically important for proper filament assembly. Functional assessment in two cell-lines, one of which does and the other of which does not constitutively produce type III intermediate filaments, demonstrated the inability of mutant desmin carrying either the A357P or the L370P mutation to polymerize and form an intracellular filamentous network. The results of this study indicate that respiratory insufficiency is an intrinsic feature of disease associated with specific desmin mutations; in some patients, respiratory weakness may present as a dominant clinical manifestation and a major cause of disability and death.     

Acute idiopathic scrotal edema in children--revisited

Background: Acute idiopathic scrotal edema (AISE), a self-limiting acute scrotal edema and erythema that resolves without sequela, was first reported by Qvist in 1956. Methods: Thirty eight patients with AISE seen in the authors' department over the last 10 years were reviewed, comprising 44 episodes, most occurring in children under 10 years of age. The average age at presentation was 6.2 years. No past history of allergy was elicited. Results: Unilateral involvement predominated (90.1%). None of the patients was found to have a primary source of scrotal, perineal, or perianal infection. Scrotal discomfort; scrotal, perineal, and inguinal swelling; and erythema were the most common findings. Laboratory and ancillary examination findings were normal, except for the occasional eosinophilia. Characteristic ultrasonographic findings, such as marked thickening of the scrotal wall, with heterogeneous and edematous appearance, increased peritesticular blood flow, mild reactive hydrocele, and enlarged inguinal lymph nodes were found. Treatment was conservative in 92.1% of the patients. Resolution of all episodes occurred within 1 to 4 days. Recurrent episodes were observed in 4 patients (10 episodes), which were clinically more severe than the original episode. Conclusion: Clinical experience, good judgment, and color Doppler ultrasound scan can reliably identify those children with an acute scrotum who require exploration and spare those with AISE, where surgery is not indicated. J Pediatr Surg 37:1200-1202.     

Critical tumor-suppressor gene regions on chromosome 3P in major human epithelial malignancies: allelotyping and quantitative real-time PCR

To ascertain the involvement of human chromosome 3p and its established critical TSG regions in various epithelial malignancies, 21 polymorphic and 2 nonpolymorphic 3p markers were allelotyped in nonpapillary RCC, NSCLC, CC and BC from a total of 184 patients. LOH was observed with high frequency in all types of cancer studied: RCC (52/57, 91%), BC (41/51, 80%), NSCLC (30/40, 75%) and CC (27/36, 75%). Interstitial deletions, believed to signal TSG inactivation, were verified using the "L-allele rule" and real-time quantitative PCR. Significant correlation was observed between DNA copy numbers for 2 nonpolymorphic STS markers and LOH data for adjacent polymorphic loci. Interstitial deletions in 3p were demonstrated for all cancer types studied. However, the distribution of different types of deletion was characteristic for tumors from various locations. Large terminal deletions were predominantly seen in RCC and NSCLC (51% and 40%, respectively), correlating with clear cell RCC and squamous cell carcinomas of the lung. In addition to the LUCA region at 3p21.3 (centromeric), we found that the AP20 region (3p21.3, telomeric) was frequently affected in all 4 cancers, suggesting that this newly defined critical region contains multiple TSGs. Moreover, at least 3 candidate cancer-specific loci were identified. The telomeric 3p26.1-p25.3 region was predominantly deleted in RCC and NSCLC. The D3S1286 and D3S3047 markers (3p25.2-p24.3) were deleted nonrandomly in NSCLC. High-frequency LOH was detected in a segment mapped closely distal to the LUCA site (3p21.3), around the D3S2409 and D3S2456 markers.     

Ethnopharmacological survey of traditional drugs sold in the Kingdom of Jordan

The results of a survey of present-day traditional medicinal materials conducted in 1998-1999 in the Kingdom of Jordan are reported. The study covered selected markets of medicinal substances of ethnic communities throughout the kingdom, and also included questioning of the sellers about the healing characteristics of the various materials. The survey yielded information on many and varied medicinal substances, of which 304 are identified according to the following classifications: 236 species of plants (77.6%); 30 species of animals (9.8%); 29 kinds of inorganic substances (9.6%); and 9 materials of other or mixed origin (3%). Analysis of the data showed that some substances were of local origin (41.8%), but the majority of the substances (45.4%) were imported from other countries. 12.8% of the substances were both local and imported. These data demonstrate that there is still a flourishing and well-developed trade in these materials--a trade that is the remnant of a rich and ancient medical culture, which is disappearing from the modern world.