Congenital torticollis: Evaluation by fine-needle aspiration biopsy

Fine-needle aspiration biopsy, used extensively for evaluating head and neck masses in adults, also provides an excellent minimally invasive means of evaluating infants with neck masses and torticollis. Three cases of torticollis involving infants are presented. In each case, fine-needle aspiration revealed a benign fibrous lesion, ruling out malignancy. The remaining cytologic differential diagnosis between infantile fibromatosis, fibromatosis colli, and calcifying aponeurotic fibrosis is discussed, with mention of the possible causes of and treatment for congenital torticollis. We conclude that fine-needle aspiration provides a fast and accurate diagnosis of neck masses in infants who have congenital torticollis, thereby avoiding surgical procedures in this very young age group.     

Systemic Absorption and Block after Epidural Injection of Ropivacaine in Healthy Volunteers

Background: For local anesthetics, the process of removal from the site of administration influences the duration of anesthesia and the risk for systemic toxicity to develop. The systemic absorption of epidural ropivacaine and the time profile of sensory and motor block were studied in healthy volunteers.

Methods: Nine persons simultaneously received 150 mg ropivacaine hydrochloride (7.5 mg/ml) epidurally and 40 mg deuterium-labeled (sup 2 H sub 3)ropivacaine hydrochloride (0.25 mg/ml) intravenously. Peripheral arterial and venous plasma samples were collected, and assessments of sensory and motor block were made.

Results: The arterial plasma concentrations increased faster than the venous concentrations, with 50% higher maximum concentrations after both intravenous and epidural administration. The absorption was biphasic. A correlation was seen between the duration of sensory block and the slower absorption half-life; that is, the longer the half-life, the longer the duration. The extent of spread varied among the volunteers, with the median upper block level not exceeding T12. The motor block (Bromage score 1) was of slower onset (median, 0.4 h) and of shorter duration (median, 4.1 h) than the sensory block (onset, 0.2 h; duration, 6.5 h at L2 medians).     

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

We describe a family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis. Four family members inherited unbalanced variants-two cases inherited the derivative chromosome 12 and the other two the derivative chromosome 17. The two individuals with the derivative chromosome 17 showed a distinct phenotype with mild mental retardation in combination with multiple minor malformations, while the phenotype in the cases with the derivative chromosome 12 was milder and only partly concordant. Detailed FISH analysis using 19 BAC clones covering the distal part of chromosome 12q and 17q estimated the imbalances to 2.1 and 1.3 Mb, respectively. The clinical and cytogenetic findings of the two different genotypes are reported and discussed. This family illustrates that small chromosome imbalances can be detected in individuals with mild phenotype and normal, or near-normal, cognitive functions.     

Psychological reactions in patients with early rheumatoid arthritis

We report the interaction of RA and psychological factors over 2 years in a group of 89 patients with newly established disease. Short-time outcome regarding physical features was fairly good. Disease activity decreased, and disability evaluated by HAQ remained at a low level. Psychological distress as measured by the depression and anxiety subscales of SCL 90 (Symptom Check List) was not very pronounced and not related to disease state factors. A slight decrease of anxiety was recorded after 2 years. A new adjustment test was applied. It contained 13 items focused mainly on negative illness effects such as loss of independence, feelings of guilt, and change of social and leisure time activities. Three factors (regret of lost life values, dysphoric mood, and acceptance) explained 48% of the variance of the 13 items. The validity of the test was acceptable. The patients' degree of adjustment changed slowly or not at all during the 2 years.     

Identification of novel virulence-associated genes via genome analysis of hypothetical genes

The sequencing of bacterial genomes has opened new perspectives for identification of targets for treatment of infectious diseases. We have identified a set of novel virulence-associated genes (vag genes) by comparing the genome sequences of six human pathogens that are known to cause persistent or chronic infections in humans: Yersinia pestis, Neisseria gonorrhoeae, Helicobacter pylori, Borrelia burgdorferi, Streptococcus pneumoniae, and Treponema pallidum. This comparison was limited to genes annotated as hypothetical in the T. pallidum genome project. Seventeen genes with unknown functions were found to be conserved among these pathogens. Insertional inactivation of 14 of these genes generated nine mutants that were attenuated for virulence in a mouse infection model. Out of these nine genes, five were found to be specifically associated with virulence in mice as demonstrated by infection with Yersinia pseudotuberculosis in-frame deletion mutants. In addition, these five vag genes were essential only in vivo, since all the mutants were able to grow in vitro. These genes are broadly conserved among bacteria. Therefore, we propose that the corresponding vag gene products may constitute novel targets for antimicrobial therapy and that some vag mutants could serve as carrier strains for live vaccines.     

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith–Magenis syndrome minimum deletion to 650 kb

Smith–Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome and it is characterized by an interstitial deletion of chromosome 17p11.2. SMS patients have a distinct phenotype which is believed to be caused by haploinsufficiency of one or more genes in the associated deleted region. Five non-deletion patients with classical phenotypic features of SMS have been reported with mutations in the retinoic acid induced 1 (RAI1) gene, located within the SMS critical interval. Happloinsufficiency of the RAI1 gene is likely to be the responsible gene for the majority of the SMS features, but other deleted genes in the SMS region may modify the overall phenotype in the patients with 17p11.2 deletions. SMS is usually diagnosed in the clinical genetic setting by FISH analysis using commercially available probes. We detected a submicroscopic deletion in 17p11.2 using array-CGH with a resolution of approximately 1 Mb in a patient with the SMS phenotype, who was not deleted for the commercially available SMS microdeletion FISH probe. Delineation of the deletion was performed using a 32K tiling BAC-array, containing 32,500 BAC clones. The deletion in this patient was size mapped to 2.7 Mb and covered the RAI1 gene. This case enabled the refinement of the SMS minimum deletion to 650 kb containing eight putative genes and one predicted gene. In addition, it demonstrates the importance to investigate deletion of RAI1 in SMS patients.     

A Systematic Literature Review of Experiences of Professional Care and Support Among People Who Self-Harm

Self-harm is an increasing phenomenon among young people, with potentially fatal outcomes. Patient’s perceptions of treatment and support are poorly documented. The aim was to synthesise the experiences of those who self-harm, with special reference to professional care and support by family, friends, and the school system. A systematic review of the literature was conducted. Following retrieval of 1,623 abstracts, 14 studies were included in the final analysis, 11 of which are reported here. Two quantitative studies as well as 1 mixed method study on self-care could not be reported on here due to word limitations. Adult people who self-harm described the importance of quality in the caring relationship and a tailored care designed for each individual. There is a need for more studies into adolescents who self-harm but of importance is the adolescents’ need for support from the adult world. A positive relationship between patient and healthcare professional can be crucial in motivating continued treatment of people who self-harm. A major priority is radical improvement in the attitudes of healthcare personnel.     

On the association between glioma,wireless phones,heredity and ionising radiation

We performed two case–control studies on brain tumours diagnosed during 1 January 1997 to 30 June 2000 and 1 July 2000 to 31 December 2003, respectively. Living cases and controls aged 20–80 years were included. An additional study was performed on deceased cases with a malignant brain tumour using deceased controls. Pooled results for glioma yielded for ipsilateral use of mobile phone odds ratio (OR) = 2.9, 95% confidence interval (CI) = 1.8–4.7 in the >10 years latency group. The corresponding result for cordless phone was OR = 3.8, 95% CI = 1.8–8.1. OR increased statistically significant for cumulative use of wireless phones per 100 h and per year of latency. For high-grade glioma ipsilateral use of mobile phone gave OR = 3.9, 95% CI = 2.3–6.6 and cordless phone OR = 5.5, 95% CI = 2.3–13 in the >10 years latency group. Heredity for brain tumour gave OR = 3.4, 95% CI = 2.1–5.5 for glioma. There was no interaction with use of wireless phones. X-ray investigation of the head gave overall OR = 1.3, 95% CI = 1.1–1.7 for glioma without interaction with use of wireless phones or heredity. In conclusion use of mobile and cordless phone increased the risk for glioma with highest OR for ipsilateral use, latency >10 years and third tertile of cumulative use in hours. In total, the risk was highest in the age group <20 years for first use of a wireless phone.