Trisomy 5p is a clinically discernable syndrome with characteristic clinical features. To date more than 40 patients with trisomy for various regions of short arm of chromosome 5 have been reported. Here we report a case with complete trisomy 5p and present a review of the literature.

Abnormalities, Multiple↗

PubMedDate not supplied

Disease associated balanced chromosome rearrangements (DBCR): report of two new cases.

Disease associated balanced chromosome rearrangements (DBCR) causing truncation, deletion, inactivation or over-expression of specific genes are instrumental in identifying and cloning several disease genes and are estimated to be much more common than anticipated. In one survey, the minimal frequency of combined balanced de novo reciprocal translocations and inversions causing abnormal phenotype is estimated to be 0.17%, a sixfold increase compared to the general population suggesting a causative linkage between the abnormality and the observed phenotypic traits. Here, we report two new cases of apparently balanced de novo translocations resulting in developmental delay and dysmorphic features.

Abnormalities, Multiple↗

PubMedDate not supplied

Emergency medical services liability litigation in the United States: 1987 to 1992.

INTRODUCTION: Although emergency medical services (EMS) liability litigation is a concern of many prehospital health care providers, there have been no studies of these legal cases nationwide and no local case studies since 1987. METHODS: A retrospective case series was obtained from a computerized database of trial court cases filed against EMS agencies nationwide. All legal cases that met the inclusion criteria were included in the study sample. These cases must have involved either ambulance collisions (AC) or patient care (PC) incidents, and they must have been closed between 1987 and 1992. RESULTS: There were 76 cases that met the inclusion criteria. Half of these cases involved an AC, and the other cases alleged negligence of a PC encounter. Thirty (78.9%) of the plaintiffs in the AC cases were other motorists, and 35 (92.1%) of the plaintiffs in the PC cases were EMS patients. Almost half of the cases named an individual (usually an emergency medical technician or paramedic) as a codefendant. Thirty-one (40.8%) of the cases were closed without any payment to the plaintiff. There were five cases with plaintiffs' awards or settlements greater than [US] $1 million. Most (71.0%) of the ACs occurred in an intersection or when one vehicle rear-ended another vehicle. The most common negligence allegations in the PC cases were arrival delay, inadequate assessment, inadequate treatment, patient transport delay, and no patient transport. CONCLUSION: Risk management for EMS requires specific knowledge of the common sources of EMS liability litigation. This sample of recent legal cases provides the common allegations of negligence. REcommendations to decrease the legal risk of EMS agencies and prehospital providers are suggested.

Accidents, Traffic↗

PubMedDate not supplied

Liability immunity as a legal defense for recent emergency medical services system litigation.

BACKGROUND: Although many emergency medical services (EMS) providers are concerned about liability litigation, no comprehensive, national studies of EMS appelate cases have been published. Information about these cases and the use of liability immunity (sovereign immunity, emergency medical care immunity, or Good Samaritan immunity) as a defense could be used for EMS risk management and better patient care. OBJECTIVE: To review recent EMS system civil litigation cases to determine their common characteristics and the number that used liability immunity as a legal defense. METHODS: An observational study of the WESTLAW computerized database of legal cases from all state and federal appellate courts. All legal cases that named a member of the EMS system as a defendant, involved either a patient-care incident or ambulance collision, and received an appellate court opinion from 1987 through 1992, were studied. RESULTS: Eighty-six cases were identified and analyzed. Most cases (85%) were related to a patient-care incident, and 71% of the cases involved a death or significant physical injury. More than 49% of the patient cases alleged inadequate assessment or treatment, and 27% alleged delay in ambulance arrival or no ambulance arrival. There were 11 cases (15%) that alleged no transport of the patient to the hospital. Liability immunity was used as a defense in 53% of the cases. The appellate courts ruled in favor of 68% of the defendants that did not use an immunity defense and in favor of 72% of those that did use liability immunity. CONCLUSION: There have been a large number of recent appellate cases involving EMS systems. The common characteristics of many of these cases demonstrate the need for providing rapid ambulance arrival, proper assessment and treatment, and rapid patient transportation to a hospital. Although liability immunity was used as a legal defense by most EMS system defendants, the appellate court outcome was similar regardless of its use.

Defensive Medicine↗

PubMedDate not supplied

An ozone-generating system and chamber for testing injury to cultured cells.

A system was constructed which alternately exposed cultured cells to specific concentrations of ozone in the gas phase and then to cell culture medium. It was designed to produce a constant mass transfer between the gas phase and the exposed cell phase. Monolayers of neonatal rat lung fibroblasts cultured in miniature glass dishes were used to test for ozone toxicity. The cells were alternately exposed to ozone (0.05, 0.15, 0.45, 1.35, and 4.05 ppm) for 30 sec and then to culture medium for 30 sec over a 1-hr period. Toxicity was measured as inhibition of cell growth 4 days after exposure to ozone. Growth was significantly inhibited at all concentrations with a 50% inhibitory concentration of 0.8 ppm. The system described was effective for quantifying ozone toxicity for cultured lung cells.

Animals↗

PubMedDate not supplied

Damage to the human quadriceps muscle from eccentric exercise and the training effect.

Nine participants performed two bouts of a step exercise, during which the quadriceps muscle of one leg acted eccentrically. Before and after the exercise, isokinetic torque was measured over a range of knee angles to determine the optimum angle for torque. Immediately after the first bout of exercise, the quadriceps showed a significant (P < 0.05) shift of 15.6 +/- 1.4 degrees (mean +/-sx) of its optimum angle in the direction of longer lengths, suggesting the presence of damage. A drop in peak torque, together with delayed soreness and swelling, confirmed that damage to muscle fibres had occurred. After the second bout of exercise, 8 days later, the shift in optimum angle was 10.4 +/- 1.0 degrees, which was significantly less than after the first bout (P < 0.05). Other indicators of damage were also reduced. In addition, the muscle exhibited a sustained shift in optimum angle (3.4 +/- 0.9 degrees), suggesting that some adaptation had taken place after the first bout of exercise. We conclude that muscles like the quadriceps can show evidence of damage after a specific programme of eccentric exercise, followed by an adaptation response. This is despite the fact that the quadriceps routinely undergoes eccentric contractions in everyday activities.

Adult↗

PubMedDate not supplied

Characterization of carbon disulfide neurotoxicity in C57BL6 mice: behavioral, morphologic, and molecular effects.

Female C57BL6 mice were exposed to 0 or 800 ppm carbon disulfide (CS2), 6 h/d, 5 d/wk for 20 weeks. The neurologic function of all mice was assessed once at the end of exposures using a functional observational battery. General health effects included a decrease in body weight gain, piloerection, hunched body posture, and ptosis. Treatment-related effects included altered gait (uncoordinated placement of hind limbs and ataxia) and impaired function on an inverted screen test. In addition, rearing and locomotor movement were decreased in treated mice. Focal to multifocal axonal swelling was seen predominantly in the muscular branch of the posterior tibial nerve, and occasionally giant axonal swelling was detected in the lumbar segment of the spinal cord. Electron microscopic examination revealed swollen axons with massive accumulation of neurofilament proteins within the axoplasm. Covalent cross-linking of erythrocyte spectrin (surrogate protein to neurofilament protein) was demonstrated in mice exposed to CS2 but not in mice receiving filtered air. These data provide supportive evidence that covalent cross-linking of neurofilament proteins is a significant feature of the axonal swellings in mice produced by inhalation exposure to CS2.

Administration, Inhalation↗