Psychological functioning and disease-related quality of life in pediatric patients with an implantable cardioverter defibrillator.

The objective of this multicenter study was to evaluate psychological functioning and disease-related quality of life (DRQoL) in pediatric patients with an implantable cardioverter defibrillator (ICD) in The Netherlands. Thirty patients were investigated; the mean age was 16.3 years, and the mean duration of implantation was 3.6 years. To assess psychological problems, three domains of the Symptom Checklist (SCL-90-R) were administered to the 25 patients[13 years old. DRQoL was assessed with a disease-specific pediatric questionnaire, the short-form 11-item Worries About (WA)ICDs Scale. Patients C13 years old scored significantly higher than the reference group on the domains of anxiety, depression, and sleeping problems of the SCL-90-R (T = 7.5, p\0.001; T = 5.4, p\0.001; and T = 7.8, p\0.001, respectively). Patients who had received an (in)appropriate shock reported more depressive symptoms (T = 2.1, p\0.03). Patients with [2 years implant duration (N = 19) or who had received an (in)appropriate shock (N = 13) showed lower DRQoL scores on the modified WAICD (T = 2.1, p\0.04; T = 2.1, p\0.5, respectively). Age at implantation or underlying disease did not influence psychological problems or DRQoL. Young ICD patients showed more anxiety, depression, and sleeping disorders. Worries were increased among patients with ICD shocks and in those who had their ICD implanted for[2 years. To determine psychological problems and help children to learn to cope with shocks, proper guidance and monitoring of young ICD patients are recommended.

Infection of polarized cultures of human intestinal epithelial cells with hepatitis A virus: vectorial release of progeny virions through apical cellular membranes.

Although hepatitis A virus (HAV) is typically transmitted by the fecal-oral route, little is known of its interactions with cells of the gastrointestinal tract. We studied the replication of HAV in polarized cultures of Caco-2 cells, a human cell line which retains many differentiated functions of small intestinal epithelial cells. Virus uptake was 30- to 40-fold more efficient when the inoculum was placed on the apical rather than the basolateral surface of these cells, suggesting a greater abundance of the cellular receptor for HAV on the apical surface. Infection proceeded without cytopathic effect and did not influence transepithelial resistance or the diffusion of inulin across cell monolayers. Nonetheless, there was extensive release of progeny virus, which occurred almost exclusively into apical supernatant fluids (36.4% +/- 12.5% of the total virus yield compared with 0.23% +/- 0.13% release into basolateral fluids). Brefeldin A caused a profound inhibition of HAV replication, but also selectively reduced apical release of virus. These results indicate that polarized human epithelial cell cultures undergo vectorial infection with HAV and that virus release is largely restricted to the apical membrane. Virus release occurs in the absence of cytopathic effect and may involve cellular vesicular transport mechanisms.

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.

We report a G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical picture resembles somewhat that of X-linked spastic paraplegia (SPG). It differs from this and both the classical and connatal forms of PMD in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, mental retardation is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of disease. The nonsense mutation, which is in exon 3B, should block the synthesis of normal PLP but spare DM20, the isoform whose persistence has been associated with mild forms of PLP-associated disease in both humans and mice.

Video assessment of trauma response: adherence to ATLS protocols.

A novel strategy using videotape recordings of initial trauma resuscitations was incorporated into the quality assurance program at a level 1 trauma center. Described are the process of taping the resuscitations, the multidisciplinary nature of the resuscitation team, the security measures taken to assure patient confidentiality, and the review process involved. The videotape review process was incorporated into a multidisciplinary educational trauma conference. The videotapes were used to evaluate the adherence to Advanced Trauma Life Support (ATLS) resuscitation protocols. Resident performance in six aspects of the ATLS resuscitation process were specifically highlighted on each videotape and graded for adherence to preestablished standards. The videotape process allowed an unblased, indisputable accurate documentation of the sequential application of the protocols of evaluation and resuscitation espoused in the ATLS course. We found 23% overall deviation from ATLS resuscitation principles, with at least one aspect of the resuscitation deviating from expected ATLS performance in 64% of the patients. In addition to documenting adherence to ATLS principles, this study illustrated the impact of the videotape review process on the education of eight senior residents in surgery.

Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency.

Alpha-1-antitrypsin deficiency is a common, underrecognized disorder manifested by emphysema in adults and liver disease in children. Early diagnosis and subsequent prevention of lung inflammation due to cigarette smoking, infection, and airborne irritants form the most rational approach to slow the progression of the lung destruction associated with alpha 1AT deficiency. Currently, liver transplantation is the only therapy available to patients with severe liver disease due to alpha 1AT deficiency. Less commonly, many inflammatory and/or immune-mediated diseases have been described in association with alpha 1AT deficiency. These observations are probably related to the role that alpha 1AT plays in the immune response both as a target for modulation by cytokines and as a modulator of the immune response. At present, therapy for the emphysema associated with alpha 1AT is limited to weekly augmentation therapy with recombinant alpha 1AT. Future therapeutic modalities include aerosol alpha 1AT, secretory leukocyte proteinase inhibitor, low molecular weight inhibitors of neutrophil elastase, and gene transfer via viral vector.

Peripheral vascular disorders. Assessment and intervention.

Peripheral vascular diseases are being seen with increased frequency in the health care setting today. It is imperative that nurses have a clear understanding of arterial, venous, and lymphatic circulatory mechanisms as well as the pathophysiologic changes that accompany common diseases of these systems. Providing the ongoing assessment to obtain a diagnosis, establish the acute versus chronic nature of findings, monitor progression, plan care, and assess the response to treatment is an important role for the nurse in order to preserve function, life, and limb in these patients.

Proximal interstitial deletion of 7q: a case report and review of the literature.

A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter----q11.2::q22----qter)]. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7), (9pter----9p12::7q22----7q11.2::9p12----++ +9qter;7pter---- 7q11.2::7q22----7qter). C-banding showed that the rearrangement occurred as a new event in the paternal grandfather's germ-line. Including the present patient, 16 cases of proximal 7q deletion (q11----q21/q22) have been described to date. This is a sufficient number of cases to permit comparison of manifestations to attempt delineation of karyotype-phenotype relationships in different proximal interstitial deletions of 7q.

A transient granulocyte killing defect secondary to a varicella infection.

A varicella infection in a previously healthy young girl was complicated by bacterial sepsis, arthritis, and osteomyelitis in multiple locations. This secondary complication caused by Staphylococcus aureus was associated with a transient defect in granulocyte function and an alteration in the representation of CD4 and CD8 positive lymphocyte subpopulation. The mechanism responsible for secondary bacterial infections following varicella may be due to transient defects in granulocyte function.