Literature search from ms 29/4/2010

Thien Theun, B., H. Becker Jeroen, et al. (2004) Rehabilitation after surgery for flexor tendon injuries in the hand. Cochrane Database of Systematic Reviews Volume, DOI: 10.1002/14651858.CD003979.pub2

BACKGROUND: Postoperative rehabilitation of the flexor tendons in the hand consists of a short period of immobilisation while pain and swelling diminish, followed by progressive mobilisation to maximize the range of motion of the affected fingers. By altering the time of immobilisation and the manner of subsequent mobilisation different rehabilitation regimes are created. OBJECTIVES: To determine, with evidence from randomised controlled trials, the optimal rehabilitation strategy after surgery for flexor tendon injuries in the hand. SEARCH STRATEGY: We searched the Cochrane Bone, Joint and Muscle Trauma Group specialised register (November 2002), the Cochrane Central Register of Controlled Trials (The Cochrane Library, issue 4, 2002), MEDLINE (1966 to November 2002), EMBASE (1988 to November 2002), CINAHL (1982 to October 2002), CURRENT CONTENTS (1993 to October 2002), PEDro - The Physiotherapy Evidence Database (http://ptwww.cchs.usyd.edu.au/pedro/ accessed 30/10/2002) and reference lists of articles. SELECTION CRITERIA: All randomised and quasi-randomised controlled trials of interventions for rehabilitation after surgery of flexor tendon injuries in the hand after surgery. DATA COLLECTION AND ANALYSIS: Two reviewers independently assessed trial quality, using a 10 item scale, and extracted data where possible. Additional information was sought from trialists when required. Due to the lack of extractable data and the variety of interventions used, pooling was not attempted. Where possible relative risks and 95 per cent confidence intervals were calculated for dichotomous outcomes, and mean differences and 95 per cent confidence intervals calculated for continuous outcomes. MAIN RESULTS: Six trials, including three reported only in abstracts, with a total of 464 participants were included. Data were not pooled. One trial compared continuous passive motion (CPM) with controlled intermittent passive motion (CIPM) and found a significant difference in mean active motion favouring CPM (WMD 19.00 degrees, 95% CI 15.11 to 22.89). One trial compared a shortened passive flexion/active extension programme with a normal passive flexion/active extension mobilisation programme, and reported (without data) a significant reduction in absence from work of 2.1 weeks in favour of the shortened programme. Other trials compared active flexion with rubber band traction, early controlled active mobilisation with early controlled passive mobilisation and dynamic splintage versus static splintage. No trials found significant differences in overall functioning or complication rate. AUTHORS' CONCLUSIONS: Controlled mobilisation regimens are widely employed in rehabilitation after flexor tendon repair in the hand. This review found insufficient evidence from randomised controlled trials to define the best mobilisation strategy. REHABILITATION AFTER SURGERY FOR FLEXOR TENDON INJURIES IN THE HAND: Flexor tendons in the hand are strings of fibrous tissue (sinews) that allow the fingers to bend. They are often cut, mostly by accidents with knives or glass. After surgery to join the ends of the tendon together, supported exercises are used to preserve movement while the tendon heals. This review of trials looked at different rehabilitation programmes after surgery for these injuries. There was no clear indication which programme was best, as many of the programmes had similar results. Adhesion between repaired tendons and surrounding tissues, limiting movement, is a common problem.
Thoby-Brisson, M., M. Karlen, et al. (2009). "Genetic identification of an embryonic parafacial oscillator coupling to the preBotzinger complex." Nature Neuroscience 12(8): 1028-1035.

The hindbrain transcription factors Phox2b and Egr2 (also known as Krox20) are linked to the development of the autonomic nervous system and rhombomere-related regulation of breathing, respectively. Mutations in these proteins can lead to abnormal breathing behavior as a result of an alteration in an unidentified neuronal system. We characterized a bilateral embryonic parafacial (e-pF) population of rhythmically bursting neurons at embryonic day (E) 14.5 in mice. These cells expressed Phox2b, were derived from Egr2-expressing precursors and their development was dependent on the integrity of the Egr2 gene. Silencing or eliminating the e-pF oscillator, but not the putative inspiratory oscillator (preBotzinger complex, preBotC), led to an abnormally slow rhythm, demonstrating that the e-pF controls the respiratory rhythm. The e-pF oscillator, the only one active at E14.5, entrained and then coupled with the preBotC, which emerged independently at E15.5. These data establish the dual organization of the respiratory rhythm generator at the time of its inception, when it begins to drive fetal breathing. copyright 2009 Nature America, Inc.

Thomas, S. and B. Wannell (2009). "Combining cycles of the Canadian Community Health Survey." HEALTH REPORTS 20(1): 53-8.

BACKGROUND: A single cycle of the Canadian Community Health Survey (CCHS) may not meet researchers' analytical needs. This article presents methods of combining CCHS cycles and discusses issues to consider if these data are to be combined. An empirical example illustrates the proposed methods. DATA AND METHODS: Two methods can be used to combine CCHS cycles: the separate approach and the pooled approach. With the separate approach, estimates are calculated for each cycle separately and then combined. The pooled approach combines data at the micro-data level, and the resulting dataset is treated as if it is a sample from one population. RESULTS: For the separate approach, it is recommended that the simple average of the estimates be used. For the pooled approach, it is recommended that weights be scaled by a constant factor where a period estimate covering the time periods of the individual cycles can be created. The choice of method depends on the aim of the analysis and the availability of data. INTERPRETATION: Combining cycles should be considered only if the most current period estimates do not suffice. Both methods will obscure cycle-to-cycle trends and will not reveal changing behaviours related to public health initiatives.

Tibballs, J. and R. D. Henning (2003). "Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome." PEDIATRIC PULMONOLOGY 36(6): 544-8.

Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented. Two infants (one in the newborn period) were treated with nasal mask bilevel positive airway pressure (BiPAP), and then both were transitioned to negative pressure chamber ventilation at several years of age because of possible midface hypoplasia. Tracheostomies were not performed. Two older children were transitioned from mechanical ventilation via tracheostomy to nasal mask BiPAP, and then in one case to negative pressure chamber ventilation, and in the other to phrenic nerve pacing. Their tracheostomies were removed. Copyright 2003 Wiley-Liss, Inc.

Tireli, G. A., S. Isler, et al. (2000). "Congenital central alveolar hypoventilation syndrome (Ondine's curse) associated with Hirschsprung's disease: A case report. [Turkish]." Pediatrik Cerrahi Dergisi 14(2): 89-90.

Congenital central alveolar hypoventilation syndrome named as "Ondine's curse" is commonly associated with other neurocrestopathies. Our case that is associated with Hirschsprung's disease, is presented to review the diagnostic modalities and stress the difficulties in treatment in our country.

Tiveron, M. C., A. Pattyn, et al. (2003). "Role of Phox2b and Mash1 in the generation of the vestibular efferent nucleus." DEVELOPMENTAL BIOLOGY 260(1): 46-57.

The inner ear (vestibular and cochlear) efferent neurons are a group of atypical motor-like hindbrain neurons which innervate inner ear hair cells and their sensory afferents. They are born in the fourth rhombomere, in close association with facial branchial motor neurons, from which they subsequently part through a specific migration route. Here, we demonstrate that the inner ear efferents depend on Phox2b for their differentiation, behaving in that respect like hindbrain visceral and branchial motor neurons. We also show that the vestibular efferent nucleus is no longer present at its usual site in mice inactivated for the bHLH transcription factor Mash 1. The concomitant appearance of an ectopic branchial-like nucleus at the location where both inner ear efferents and facial branchial motor neurons are born suggests that Mash1 is required for the migration of a subpopulation of rhombomere 4-derived efferents. copyright 2003 Elsevier Science (USA). All rights reserved.

Tiwari, S. K. and J. Wang (2008). "Ethnic differences in mental health service use among White, Chinese, South Asian and South East Asian populations living in Canada." Social Psychiatry & Psychiatric Epidemiology 43(11): 866-71.

BACKGROUND: Health services in Canada are publicly funded. However, the use of health services, especially mental health services, by ethnic minority groups in Canada, has not been well studied. OBJECTIVES: The objectives of the study were to estimate the 12-month prevalence of mental health service use by ethnicities, overall and among those with major depression, and to identify factors associated with mental health services use in different ethnic groups in Canada. METHODS: Data from the Canadian Community Health Survey (CCHS-1.1) were used. Participants included in this analysis were white who were born in Canada (n = 108,192), white immigrants (n = 10,892), Chinese (n = 1,785), South Asian (n = 1,214), and South East Asian immigrants (n = 818). Participants were selected using multiple staged, stratified random sampling procedures from household residents aged 12 years or older in ten provinces. RESULTS: White people were more likely to have used mental health services than Chinese participants and those from South Asian and South East Asian regions. The Chinese participants appeared to be less likely to have used mental health services than those in the South Asian and South East Asian groups, in those without major depression. CONCLUSIONS: In Canada, Asian immigrants are less likely to use mental health service use than white people. More studies are needed to examine factors affecting mental health service use in Asian immigrants living in North America.

Tjepkema, M. (2003). "Repetitive strain injury." HEALTH REPORTS 14(4): 11-30.

OBJECTIVES: This article describes the characteristics of people who report a repetitive strain injury (RSI) and examines the association of an RSI with chronic pain and with psychological distress. DATA SOURCES: The data are from Statistics Canada's 2000/01 Canadian Community Health Survey (CCHS) and the 1994/95 to 2000/01 National Population Health Survey (NPHS). ANALYTICAL TECHNIQUES: Cross-tabulations were used to estimate the prevalence of RSI and contact with health care professionals by selected characteristics. Multiple logistic regression models were used to determine if associations persisted after controlling for other factors, and to determine if RSIs were significantly associated with chronic pain and psychological distress. MAIN RESULTS: In 2000/01, 10% of Canadians aged 20 or older reported having had an RSI serious enough to limit their usual activities at some point in the previous 12 months. Work-related activities were most often the cause, and injury to the upper body was more common than to the lower body. People with an RSI had more contacts with health care professionals and higher levels of chronic pain and psychological distress than did those without an RSI. Two years after an RSI was first reported, pain and distress levels remained high among men and had risen among women.

Todd, E. S., N. M. Scott, et al. (2006). "Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome." PEDIATRICS 118(2): e408-14.

OBJECTIVE: Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates. Because sympathetic innervation has been hypothesized to affect the development of dermatoglyphic pattern types, we hypothesized that individuals with PHOX2B-confirmed congenital central hypoventilation syndrome would have characteristic dermatoglyphic patterning and that the dermatoglyphic phenotype would be related to the disease-defining PHOX2B genotype. METHODS: Dermatoglyphic pattern type frequency, left/right symmetry, and genotype/phenotype correlation were assessed for 33 individuals with PHOX2B-confirmed congenital central hypoventilation syndrome and compared with published control data. RESULTS: Dermatoglyphic pattern type frequencies were altered in congenital central hypoventilation syndrome cases versus controls. In particular, there was an increase of arches in females and ulnar loops in males, with the largest differences for the left hand and for individuals with both congenital central hypoventilation syndrome and Hirschsprung disease. Dissimilarity scores between the congenital central hypoventilation syndrome and congenital central hypoventilation syndrome + Hirschsprung disease cases were not significantly different, nor were dissimilarity scores between all of the female and all of the male cases. No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central hypoventilation syndrome study groups. CONCLUSIONS: These results represent the first report describing specific dermatoglyphic patterning in congenital central hypoventilation syndrome and suggest a relationship between PHOX2B and the expression of dermatoglyphic pattern types. An expanded congenital central hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning.

Todd, E. S., S. M. Weinberg, et al. (2006). "Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology." PEDIATRIC RESEARCH 59(1): 39-45.

Congenital central hypoventilation syndrome (CCHS) is caused by mutations in PHOX2B, which is essential for maturation of the neural crest into the autonomic nervous system and is expressed in the dorsal rhombencephalon, a region that gives rise to facial structures. Digital photographs of 45 individuals with PHOX2B-confirmed CCHS, and 45 matched controls were analyzed for 17 linear and 6 angular measurements, and 9 derived indices. Paired t tests were used to compare group means, correlation was calculated between PHOX2B polyalanine expansion number and facial measures, and stepwise logistic regression was used to predict case-control and genotype status. CCHS cases differed significantly from controls on 13 variables (6 after p value correction: nasolabial angle, upper lip height, lateral lip height, facial index, upper facial index, and presence of inferior inflection of the lateral segment of the upper lip vermillion border). Five variables were able to predict correctly 85.7% of CCHS cases and 82.2% of controls: upper lip height, biocular width, upper facial height, nasal tip protrusion, and inferior inflection of the upper lip vermillion border. A negative relationship between number of repeats and four anthropometric measures was observed: mandible breadth, nasolabial angle, lateral lip height, and mandible-face width index. These results suggest a characteristic facial phenotype in children and young adults with CCHS, due to an expansion mutation in PHOX2B.

Toki, F., N. Suzuki, et al. (2003). "Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature." PEDIATRIC SURGERY INTERNATIONAL 19(11): 725-8.

The authors report two cases of the rare concurrence of intestinal aganglionosis and Waardenburg syndrome in Japanese infants. The patients were a 1-month-old girl and a 3-month-old boy at diagnosis, and both of them had either short segment or ultra-short segment aganglionosis. A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short. The clinical features of aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent of aganglionosis with those of Hirschsprung's disease associated with Ondine's curse, another type of neurocristopathy. [References: 40]

Tomori, Z., V. Donic, et al. (2002). "[Regulation of respiration and its sleep-related disorders]." SBORNIK LEKARSKY 103(1): 65-71.

Four basic control mechanisms of breathing (brainstem respiratory centre, peripheral and central chemoreceptors, intero- and exteroceptive reflexes and suprapontine influences), as well as their sleep-related disorders are analysed. A decrease in central chemoreceptor sensitivity to CO2 and an increase in upper airway resistance during sleep result in hypoventilation and mild hypoxaemia already in physiological conditions. Compensatory increase in ventilatory effort with synchronous inhibition of pharyngeal dilators during sleep reduces the upper airway lumen manifesting with snoring, upper airway resistance syndrome, and OSA. The resulting hypoxaemia may cause marked cardiovascular, neuro-psychic, endocrine-metabolic and behavioural disorders. The augmented ventilatory effort and hypoxaemia evoke reflex dilation of airways and arousal from sleep, stimulating the sympatho-adrenal system, which provokes autoresuscitation by gasping preventing fatal asphyxia. Failure of this autoresuscitation mechanism seems to cause SIDS. Elimination of voluntary breathing by sleep either in Ondine's curse induced by lesions of respiratory centre, or in congenital central hypoventilation syndrome caused by insufficient central chemoreceptors result in respiratory failure and death. Nocturnal attacks of bronchial and cardiac asthma, lung oedema and other consequences of pulmonary congestion are also discussed. The pathomechanism of extreme daytime sleepiness, chronic fatigue, and disorders of memory, cognitive and other brain functions, are also analysed. Severe cardiovascular consequences of SAS may manifest acutely as angina pectoris, myocardial infarction. dysrhythmias, transient ischaemic attacks and even stroke or sudden cardiac death. OSAS may result also in development of hypertension, central obesity, diabetes mellitus, erectile dysfunction, depression, and various behavioural disorders.

Tomycz, N. D., R. L. Haynes, et al. (2010). "Novel neuropathologic findings in the Haddad syndrome." ACTA NEUROPATHOLOGICA 119(2): 261-9.

Haddad syndrome (congenital central hypoventilation syndrome and Hirschsprung's disease) is a rare disorder for which in-depth neuropathologic analysis is lacking. We report the brain findings in a full-term male infant with Haddad syndrome who died at 27 days of life. Bilateral hypoplasia of the superior temporal lobe and gyral anomalies in the frontal cortex were present. Immunohistochemistry with an antibody to tyrosine hydroxylase (noradrenaline synthesis) demonstrated hypoplasia of the locus coeruleus (implicated in chemoreception) and A5 region. Other findings included delayed maturation of the arcuate nucleus (putative human homologue of ventral medullary neurons in animals critical for chemoreception) and aberrant fascicles in the nucleus of the solitary tract. Efforts to determine the putative gene mutation were unsuccessful. This study implicates novel brain findings in Haddad syndrome mimicking those in murine Phox2b null mutants. This case suggests that abnormalities occur in CCHS in a network of sites critical to chemoreception.

Tonczar, L., H. Benzer, et al. (1978). "[Remarks on the publication by R.J. Bieber: crux medicorum: ondine's curse (anaesthesist 26, 628--630 (1977)) (author's transl)]." ANAESTHESIST 27(8): 397-400.

Trang, H. (2001). "Ondine's syndrome. [French]." ARCHIVES DE PEDIATRIE 8(SUPPL. 2): 380s-381s.

Trang, H. (2006). "Central congenital hypoventilation syndrome. [French]." Revue du Praticien 56(2): 125-128.

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

Trang, H., S. Boureghda, et al. (2003). "24-hour BP in children with congenital central hypoventilation syndrome." CHEST 124(4): 1393-9.

OBJECTIVE: To study circadian BP patterns in patients with congenital central hypoventilation syndrome (CCHS). DESIGN: Case-control study. SETTING: Teaching hospital in Paris, France. PATIENTS: Eleven patients with CCHS (median age, 13 years; range, 6 to 18 years) and 11 sex- and height-matched control subjects. INTERVENTION: None. METHODS: Each subject underwent 24-h ambulatory BP monitoring. Oxygen saturation and end-tidal PCO(2) were monitored noninvasively. Polysomnography was performed to determine sleep times. All patients with CCHS received mechanical ventilation during sleep. Mean values for systolic BP (SBP) and diastolic BP (DBP) during wakefulness and sleep were analyzed. Nocturnal BP "dipping" was defined as the difference in mean SBP (and/or DBP) between wakefulness and sleep, divided by individual waking mean values. BP "dippers" were defined as subjects showing at least 10% nocturnal dipping. RESULTS: Patients with CCHS had BPs in the low normal range of normative data. As compared to control subjects, patients with CCHS had lower BP during wakefulness (p = 0.003 and p = 0.016 for SBP and DBP, respectively), and higher BP during sleep (p = 0.016 and p = 0.002). Nocturnal BP dipping was abnormally reduced in patients with CCHS (p = 0.000). Ten of the 11 patients with CCHS were BP nondippers, compared to none of the control subjects. CONCLUSION: The abnormal circadian BP pattern observed in children and adolescents with CCHS may be related to autonomic nervous dysfunction. Lifelong cardiovascular follow-up is recommended for patients with CCHS.

Trang, H., M. Dehan, et al. (2005). "The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype." CHEST 127(1): 72-9.

OBJECTIVE: To analyze the main clinical features, genetic mutations, and outcomes of patients of the French Congenital Central Hypoventilation Syndrome (CCHS) Registry. DESIGN: A country-wide cohort established throughout a long-term multicenter effort. PATIENTS: Seventy French patients with CCHS (29 male patients and 41 female patients). METHODS: The following items were analyzed: the most important moments of the disease course; the main clinical characteristics; associated pathologic conditions; management; clinical outcome; and genetic mutations. RESULTS: An average of four new cases of CCHS per year was observed in the last 5 years. Thus, the incidence may be estimated to be 1 per 200,000 live births in France. The median age at diagnosis was 3.5 months (range, 0.5 to 15 months) before 1995 and < 2 weeks in the last 5 years (p = 0.01). CCHS occurred in isolation in 58 of 70 patients. In the remainder, it was associated with Hirschsprung disease (HSCR) [nine patients], Hirschsprung and neural crest tumor (two patients), and growth hormone deficiency (one patient). Among the 50 patients who lived beyond 1 year of age, all but one received nighttime ventilation, with 10 of them (20%) receiving it noninvasively. Three patients (6%) required daytime ventilatory support in addition to nighttime ventilation. The overall mortality rate was 38% (95% confidence interval [CI], 27 to 49%). The median age at death was 3 months (range, 0.4 months to 21 years). The 2-year mortality rate was greater in male patients than in female patients (p = 0.02; relative risk [RR], 2.71; 95% CI, 1.14 to 6.47) but was not affected by HSCR (p = 0.93; RR, 0.95; 95% CI, 0.28 to 3.2). The 43 patients who are currently alive (11 men; sex ratio, 0.4) have a mean age of 9 years (range, 2 months to 27 years). Among the 34 patients tested thus far, heterozygous mutations of the paired-like homeobox gene 2B (PHOX2B) gene were found in 31 patients (91%). CONCLUSION: Our four major findings are the extreme rarity of CCHS, the improved recognition over time, the lack of effect of HSCR on the mortality rate, and the high frequency of PHOX2B mutations.