Balloon dilatation of pediatric subglottic laryngeal stenosis during the artificial apneic pause: experience in 5 children.

INTRODUCTION: Balloon dilatation is a method of choice for treatment of laryngeal stenosis in children. The aim of procedure in apneic pause is to avoid new insertion of tracheostomy cannula. PATIENTS AND METHODS: The authors performed balloon dilatation of subglottic laryngeal strictures (SGS) in 5 children (3 girls and 2 boys) without tracheotomy. Two of them with traumatic and inflammatory SGS had a tracheal cannula removed in the past. The other 3 children with postintubation SGS had never had a tracheostomy before. The need for tracheostomy due to worsening stridor was imminent for all of them. RESULTS: The total of seven laryngeal dilatations by balloon esophagoplasty catheter in apneic pause was performed in the 5 children. The procedure averted the need for tracheostomy placement in 4 of them (80%). Failure of dilatation in girl with traumatic stenosis and concomitant severe obstructive lung disease led to repeated tracheostomy. CONCLUSION: Balloon dilatation of laryngeal stricture could be done in the absence of tracheostomy in apneic pause. Dilatation averted threatening tracheostomy in all except one case. Early complication after the procedure seems to be a negative prognostic factor for the outcome of balloon dilatation.

Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation.

The most frequent hereditary hearing loss is caused by mutations in the GJB2 gene coding for the gap junction beta 2 protein Connexin 26 (Cx26). In contrast to many studies performed in patients with bi-allelic mutations, audiometric studies on heterozygotes are sparse and often contradictory. To evaluate hearing function in heterozygous carriers of the GJB2 c.35delG mutation, audiometry over the extended frequency range and the recording of otoacoustic emissions (OAEs), i.e., transient-evoked OAEs (TEOAEs) and distortion product OAEs (DPOAEs), were performed in a group of parents and grandparents of deaf children homozygous for the GJB2 c.35delG mutation. The comparison of audiograms between control and heterozygous subjects was enabled using audiogram normalization for age and sex. Hearing loss, estimated with this procedure, was found to be significantly larger in GJB2 c.35delG heterozygous females in comparison with controls for the frequencies of 8-16 kHz; the deterioration of hearing in heterozygous men in comparison with controls was not statistically significant. A comparison of TEOAE responses and DPOAE levels between GJB2 c.35delG heterozygotes and controls did not reveal any significant differences. The results prove the importance of using audiometry over the extended frequency range and audiogram normalization for age and sex to detect minor hearing impairments, even in a relatively small group of subjects of different ages.

Social network variables in alcoholics anonymous: a literature review.

Alcoholics Anonymous (AA) is the most commonly used program for substance abuse recovery and one of the few models to demonstrate positive abstinence outcomes. Although little is known regarding the underlying mechanisms that make this program effective, one frequently cited aspect is social support. In order to gain insight into the processes at work in AA, this paper reviewed 24 papers examining the relationship between AA and social network variables. Various types of social support were included in the review such as structural support, functional support, general support, alcohol-specific support, and recovery helping. Overall, this review found that AA involvement is related to a variety of positive qualitative and quantitative changes in social support networks. Although AA had the greatest impact on friend networks, it had less influence on networks consisting of family members or others. In addition, support from others in AA was found to be of great value to recovery, and individuals with harmful social networks supportive of drinking actually benefited the most from AA involvement. Furthermore, social support variables consistently mediated AA's impact on abstinence, suggesting that social support is a mechanism in the effectiveness of AA in promoting a sober lifestyle. Recommendations are made for future research and clinical practice.

Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.

Mutations in the GJB2 gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide. Nevertheless, 10% to 50% of patients with prelingual nonsyndromic deafness only carry one mutation in the GJB2 gene. Recently a large 342 kb deletion named Delta(GJB6-D13S1830) involving the GJB6 gene was reported in Spanish and French deafness patients, either in a homozygous state or in combination with a monoallelic GJB2 mutation. No data have been reported about the frequency of this mutation in central Europe. Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB2 gene were tested for the presence of the Delta(GJB6-D13S1830) mutation. One patient with a GJB2 mutation (313del14) also carried the Delta(GJB6-D13S1830). This is the first reported Czech case, and probably also the first central European case, of prelingual deafness due to mutations involving both the GJB2 and GJB6 genes. In addition, the Delta(GJB6-D13S1830) was not detected in 600 control chromosomes from Czech individuals with normal hearing. We show that in the Czech Republic the Delta(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that Delta(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel.

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Mutations in the gene gap junction beta 2 (GJB2), the gene for the connexin 26, are the most common cause of pre-lingual deafness worldwide. The mutation 35delG within GJB2 is prevalent in Europe. To date, there are no data about GJB2 mutation spectrum and frequencies from the Czech population. We investigated and report here the spectrum and frequencies of mutations in the GJB2 gene among 156 unrelated, congenital deafness Czech patients. Allele-specific polymerase chain reaction, together with fluorescent fragment analysis, were used for the detection of the 35delG mutation. The entire coding region of the GJB2 was directly sequenced in all patients who were not homozygous for the 35delG. No pathogenic mutation was detected in 51.9% of patients. At least one pathogenic mutation was found in 48.1% of patients, and both pathogenic mutations were detected in 37.8% of patients. Single mutations in a heterozygous state were detected in 10.3% of patients. The mutation 35delG accounts for 82.8% of detected disease mutations, Trp24stop accounts for 9.7% of pathogenic alleles and was found in patients with gypsy heritage. Mutation 313del14 accounts for 3.7% of pathogenic alleles. The frequency of 35delG heterozygotes in the Czech Republic is 1 : 29.6. Testing for only the three most common mutations would detect over 96% of all pathogenic alleles in the Czech Republic.

Spin polarization of 37K produced in a single-proton pickup reaction at intermediate energies.

Spin polarization of 37K nuclei produced via single proton pickup from a 9Be target by a beam of 150 MeV/nucleon 36Ar has been observed. Positive spin polarization with magnitude (8.5+/-0.6)% was deduced near the peak of the 37K momentum distribution. The variation of the spin polarization as a function of outgoing 37K momentum is explained by a classical conservation model, as previously applied to describe the induced spin polarization observed for fragments produced in intermediate-energy heavy-ion reactions, with the condition that the picked-up proton has an average momentum equal to the Fermi momentum and is aligned along the incident beam direction.

Safety and efficacy of high dose etanercept in treatment of juvenile rheumatoid arthritis.

OBJECTIVE: To evaluate safety and efficacy of high dose etanercept (> 0.8 mg/kg, maximum 25 mg subcutaneously twice weekly) (Enbrel) in children with juvenile rheumatoid arthritis (JRA) and inadequate prior response to standard dose etanercept. METHODS: Retrospective chart review of 8 children (6 girls, 2 boys, mean age 8.4 yrs, range 5-16 yrs). Five children had systemic onset, polyarticular course JRA; 2 had polyarticular onset; and one had pauciarticular onset, polyarticular course JRA. All children had failed at least 3 mo (mean 9 mo) treatment with standard dose etanercept (0.4 mg/kg SC twice a week). All 8 children had increase in the etanercept dose to at least 0.8 mg/kg (mean 1.1 mg/kg, maximum 25 mg SC twice weekly) for a mean of 7 mo (range 3-10 mo). Efficacy of high dose etanercept was evaluated by changes in joint count, laboratory data, and ability to decrease concomitant medication. RESULTS: Improvements in the joint count and laboratory findings (erythrocyte sedimentation rate, hemoglobin and platelet count) were observed in 2 of 8 (25%) children. In these 2, concomitant prednisone was reduced or discontinued. In contrast, no changes in disease activity or laboratory findings were observed in the other 6 children. Overall, high dose etanercept was well tolerated. No laboratory abnormalities were detected and no child withdrew because of adverse events. CONCLUSION: High dose etanercept is safe and well tolerated in children, but efficacy seems limited. In children with unsatisfactory response to standard dose etanercept, an increased dose or treatment prolongation may not offer any additional benefit.

Dopamine-antagonistic, anticholinergic, and GABAergic effects on declarative and procedural memory functions.

Declarative and procedural memory functions are related to dissociable neuroanatomic substrates. In the present study differential effects of pharmacologically induced changes in dopaminergic, GABAergic, and cholinergic activity in the brain on declarative (object and face recognition, immediate and delayed word recall) and procedural memory processes (compensatory tracking) were investigated. In a double-blind design, either 3 mg of haloperidol, 11 mg of midazolam, 1 mg of scopolamine, or placebo were administered to 80 healthy volunteers randomly assigned to one of the four drug conditions. Although all three drugs produced a detrimental effect on immediate and delayed word recall, recall performance was substantially more impaired by the benzodiazepine midazolam than by either haloperidol or scopolamine. While recognition of faces was affected by neither of the drugs, performance on object recognition was significantly decreased by midazolam as compared to placebo. Procedural learning was markedly impaired by all drugs but, again, the observed effect was most pronounced with midazolam. Additional analyses of measures of subjective activation, cortical arousal, and psychomotor performance argued against the assumption that the observed memory-impairing effects were secondary to drug-induced sedation. The overall pattern of results revealed that memory processes are much more susceptible to changes in GABAergic than in dopaminergic or cholinergic neurotransmitter activity. Furthermore, the present findings point to the conclusion that the modulating effects of dopaminergic, GABAergic, and cholinergic neurotransmitter systems on declarative and procedural memory functions are less specific than suggested by neuropsychological studies in patients.

Operative treatment of ulnar collateral ligament injuries of the elbow in athletes.

Over a 6-year period, the senior author (JRA) performed 91 ulnar collateral ligament reconstructions (N = 78) or repairs (N = 13). All patients were male and between the ages of 15 and 39 years (average, 21.6). Thirty-seven patients (41%) were professional baseball players, 41 (45%) were collegiate baseball players, and 7 (7.7%) were high school or recreational players. Subcutaneous ulnar nerve transposition with stabilization of the nerve with fascial slings of the flexor pronator mass was performed in all patients, and additional procedures were performed in 27 patients (29.7%), including 22 excisions of posteromedial olecranon osteophytes. Average follow-up was 35.4 months. Ten patients had preoperative ulnar nerve symptoms, nine of whom had complete resolution of symptoms after surgery. Complications occurred in eight patients. The average time from surgery to initiation of the interval throwing program was 3.4 months, and the average time to return to competitive throwing was 9.8 months. Sixty-seven patients (74%) were available for follow-up; of these, 53 (79%) had returned to their previous levels of competition or to a higher level. Reconstruction of the ulnar collateral ligament, with transposition and stabilization of the ulnar nerve and appropriate rehabilitation, was found to be effective in correcting medial instability of the elbow and allowed most athletes to return to previous levels of play in less than 1 year.