Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected

A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in Cape Town in 1987. Of the 143 DMD patients diagnosed during the period 1987-1992, 66 had a familial pattern of inheritance and 77 were apparently sporadic. Twenty BMD patients were identified, of whom 12 had other affected relatives and 8 were sporadic. Overall minimum prevalence rates of 1/100 000 for DMD and 1/55 000 for BMD were calculated. A markedly low DMD prevalence in the indigenous black population (1/250000) contributed tothe overall low DMD prevalence in South Africa when compared with that in the UK (1/40 000).By means of molecular methods, the diagnosis in 42% of the affected DMD males was confirmed by detection of deletions in the dystrophin gene. Deletions were identified in 50% of Indian, white and mixed ancestry patients. In contrast, only 22% of blacks had identifiable deletions.DMD appears to be underrepresented in the black population; the low deletion frequency in this group suggests that unique mutations not detectable by methods used in this study may be more frequent in these patients than in the other populations. The increased DMD frequency in Indians corroborates findings reported from the UK

Transkei foot

An epidemiological investigation of bone and joint abnormalities in a Xhosa population revealed 6 females with a condition characterised by marked lateral deviation of the fifth toes. This disorder does not seem to have been previously described, and we therefore propose that it should be named 'Transkei foot'. The pathogenesis of the condition is obscure, but it is possible that it has a genetic basis.S. Afr. Med. J. 48, 961 (1974

Veillonella rogosae sp. nov., an anaerobic, Gram-negative coccus isolated from dental plaque

Strains of a novel anaerobic, Gram-negative coccus were isolated from the supra-gingival plaque of children. Independent strains from each of six subjects were shown, at a phenotypic level and based on 16S rRNA gene sequencing, to be members of the genus Veillonella. Analysis revealed that the six strains shared 99.7 % similarity in their 16S rRNA gene sequences and 99.0 % similarity in their rpoB gene sequences. The six novel strains formed a distinct group and could be clearly separated from recognized species of the genus Veillonella of human or animal origin. The novel strains exhibited 98 and 91 % similarity to partial 16S rRNA and rpoB gene sequences of Veillonella parvula ATCC 10790T, the most closely related member of the genus. The six novel strains could be differentiated from recognized species of the genus Veillonella based on partial 16S rRNA and rpoB gene sequencing. The six novel strains are thus considered to represent a single novel species of the genus Veillonella, for which the name Veillonella rogosae sp. nov. is proposed. The type strain is CF100T (=CCUG 54233T=DSM 18960T)

Emended description of Actinomyces naeslundii and descriptions of Actinomyces oris sp. nov. and Actinomyces johnsonii sp. nov., previously identified as Actinomyces naeslundii genospecies 1, 2 and WVA 963

Actinomyces naeslundii is an important early colonizer in the oral biofilm and consists of three genospecies (1, 2 and WVA 963) which cannot be readily differentiated using conventional phenotypic testing or on the basis of 16S rRNA gene sequencing. We have investigated a representative collection of type and reference strains and clinical and oral isolates (n=115) and determined the partial gene sequences of six housekeeping genes (atpA, rpoB, pgi, metG, gltA and gyrA). These sequences identified the three genospecies and differentiated them from Actinomyces viscosus isolated from rodents. The partial sequences of atpA and metG gave best separation of the three genospecies. A. naeslundii genospecies 1 and 2 formed two distinct clusters, well separated from both genospecies WVA 963 and A. viscosus. Analysis of the same genes in other oral Actinomyces species (Actinomyces gerencseriae, A. israelii, A. meyeri, A. odontolyticus and A. georgiae) indicated that, when sequence data were obtained, these species each exhibited <90 % similarity with the A. naeslundii genospecies. Based on these data, we propose the name Actinomyces oris sp. nov. (type strain ATCC 27044T =CCUG 34288T) for A. naeslundii genospecies 2 and Actinomyces johnsonii sp. nov. (type strain ATCC 49338T =CCUG 34287T) for A. naeslundii genospecies WVA 963. A. naeslundii genospecies 1 should remain as A. naeslundii sensu stricto, with the type strain ATCC 12104T =NCTC 10301T =CCUG 2238T

A Primary Care Nurse-Delivered Walking Intervention in Older Adults: PACE (Pedometer Accelerometer Consultation Evaluation)-Lift Cluster Randomised Controlled Trial.

Background: Brisk walking in older people can increase step-counts and moderate to vigorous intensity physical activity (MVPA) in ≥10-minute bouts, as advised in World Health Organization guidelines. Previous interventions have reported step-count increases, but not change in objectively measured MVPA in older people. We assessed whether a primary care nurse-delivered complex intervention increased objectively measured step-counts and MVPA. Methods and Findings: A total of 988 60–75 year olds, able to increase walking and randomly selected from three UK family practices, were invited to participate in a parallel two-arm cluster randomised trial; randomisation was by household. Two-hundred-ninety-eight people from 250 households were randomised between 2011 and 2012; 150 individuals to the intervention group, 148 to the usual care control group. Intervention participants received four primary care nurse physical activity (PA) consultations over 3 months, incorporating behaviour change techniques, pedometer step-count and accelerometer PA intensity feedback, and an individual PA diary and plan. Assessors were not blinded to group status, but statistical analyses were conducted blind. The primary outcome was change in accelerometry assessed average daily step-counts between baseline and 3 months, with change at 12 months a secondary outcome. Other secondary outcomes were change from baseline in time in MVPA weekly in ≥10-minute bouts, accelerometer counts, and counts/minute at 3 months and 12 months. Other outcomes were adverse events, anthropometric measures, mood, and pain. Qualitative evaluations of intervention participants and practice nurses assessed the intervention’s acceptability. At 3 months, eight participants had withdrawn or were lost to follow-up, 280 (94%) individuals provided primary outcome data. At 3 months changes in both average daily step-counts and weekly MVPA in ≥10-minute bouts were significantly higher in the intervention than control group: by 1,037 (95% CI 513–1,560) steps/day and 63 (95% CI 40–87) minutes/week, respectively. At 12 months corresponding differences were 609 (95% CI 104–1,115) steps/day and 40 (95% CI 17–63) minutes/week. Counts and counts/minute showed similar effects to steps and MVPA. Adverse events, anthropometry, mood, and pain were similar in the two groups. Participants and practice nurses found the intervention acceptable and enjoyable. Conclusions : The PACE-Lift trial increased both step-counts and objectively measured MVPA in ≥10-minute bouts in 60–75 year olds at 3 and 12 months, with no effect on adverse events. To our knowledge, this is the first trial in this age group to demonstrate objective MVPA increases and highlights the value of individualised support incorporating objective PA assessment in a primary care setting. Trial Registration: Controlled-Trials.com ISRCTN4212256

Genomic Diversity among Actinomyces naeslundii strains and closely related species.

The aim of this study was to investigate and clarify the ambiguous taxonomy of Actinomyces naeslundii and its closely related species using state-of-the-art high-throughput sequencing techniques, and, furthermore, to determine whether sub-clusters identified within Actinomyces oris and Actinomyces naeslundii in a previous study by multi locus sequence typing (MLST) using concatenation of seven housekeeping genes should either be classified as subspecies or distinct species. The strains in this study were broadly classified under Actinomyces naeslundii group as A. naeslundii genospecies I and genospecies II. Based on MLST data analysis, these were further classified as A. oris and A. naeslundii. The whole genome sequencing of selected strains of A. oris (n = 17) and A. naeslundii (n = 19) was carried out using Illumina Genome Analyzer IIxe and Roche 454 allowing paired-end and single-reads sequencing, respectively. The sequences obtained were aligned using CLC Genomic workbench version 5.1 and annotated using RAST (Rapid Annotation using Subsystem Technology) release version 59 accessible online. Additionally, genomes of seven publicly available strains of Actinomyces (k20, MG1, c505, OT175, OT171, OT170, and A. johnsonii) were also included. Comparative genomic analysis (CGA) using Mauve, Progressive Mauve, gene-by-gene, Core, and Pan Genome, and finally Digital DNA-DNA homology (DDH) analysis was carried out. DDH values were obtained using in silico genome–genome comparison. Evolutionary analysis using ClonalFrame was also undertaken. The mutation and recombination events were compared using chi-square test among A. oris and A. naeslundii isolates (analysis methods are not included in the study). CGA results were consistent with previous traditional classification using MLST. It was found that strains of Actinomyces k20, MG1, c505, and OT175 clustered in A. oris group of isolates, while OT171, OT170, and A. johnsonii appeared as separate branches. Similar clustering to MLST was observed for other isolates. The mutation and recombination events were significantly higher in A. oris than A. naeslundii, highlighting the diversity of A. oris strains in the oral cavity. These findings suggest that A. oris forms six distinct groups, whereas A. naeslundii forms three. The correct designation of isolates will help in the identification of clinical Actinomyces isolates found in dental plaque. Easily accessible online genomic sequence data will also accelerate the investigation of the biochemical characterisation and pathogenesis of this important group of micro-organisms

Role of microbial biofilms in the maintenance of oral health and in the development of dental caries and periodontal diseases. Consensus report of group 1 of the Joint EFP/ORCA workshop on the boundaries between caries and periodontal disease.

BACKGROUND AND AIMS: The scope of this working group was to review (1) ecological interactions at the dental biofilm in health and disease, (2) the role of microbial communities in the pathogenesis of periodontitis and caries, and (3) the innate host response in caries and periodontal diseases. RESULTS AND CONCLUSIONS: A health-associated biofilm includes genera such as Neisseria, Streptococcus, Actinomyces, Veillonella and Granulicatella. Microorganisms associated with both caries and periodontal diseases are metabolically highly specialized and organized as multispecies microbial biofilms. Progression of these diseases involves multiple microbial interactions driven by different stressors. In caries, the exposure of dental biofilms to dietary sugars and their fermentation to organic acids results in increasing proportions of acidogenic and aciduric species. In gingivitis, plaque accumulation at the gingival margin leads to inflammation and increasing proportions of proteolytic and often obligately anaerobic species. The natural mucosal barriers and saliva are the main innate defence mechanisms against soft tissue bacterial invasion. Similarly, enamel and dentin are important hard tissue barriers to the caries process. Given that the present state of knowledge suggests that the aetiologies of caries and periodontal diseases are mutually independent, the elements of innate immunity that appear to contribute to resistance to both are somewhat coincidental

Book Reviews

Basic Neurology. Ed. by J. Gilroy and P. L. Holliday. Pp. vii + 373. Illustrated. R27,90. London: Macmillan. 1982.The Pathology of the Heart. By E. G. J. Olsen. Pp. ix + 402. Illustrated. R91,85. London: Macmillan. 1982.Profile of Disease and Health Care in South Africa. By H. C. J. van Rensburg and A. Mans. Pp. xvii + 319. R29,50. Pretoria: Academica Press. 1982.Principles of Ambulatory Medicine. Ed. by L. R. Barker, J. R. Burton and P. D. Zieve. Pp. xiii + 1127. Illustrated. R78,-. Baltimore, Maryland: Williams &amp; Wilkins. 1982.Topical Reviews in Accident Surgery, vol. 2. Ed. by N. Tubbs and P. S. London. Pp. ix +258. Illustrated. £18,50. London: Wright PSG.1982.Early Care of the Injured Patient. 3rd ed. Ed. by A. J. Wait, L. F. Peltier, B. A. Pruitt jun, D. D. Trunkey and R. F. Wilson. Pp. xv + 413. Illustrated. Philadelphia: W. B. Saunders. 1982.Current Pediatric Therapy. 10th ed. By S. S. Gellis and B. M. Kagan. Pp. xxxviii + 776. R94,25. Philadelphia: W. B. Saunders. 1982.Selected Techniques in Interventional Radiology,vol. 19 (Saunders Monographs in Clinical Radiology). By S. Kadir, S. L. Kaufman, K. H. Barth and R. 1. White jun. Pp. xi +216. Illustrated. R76,75. Philadelphia: W. B. Saunders. 1982.Clinical Topics in Internal Medicine. Ed. by G. M. Tisi and H. M. Ranney. Pp. xii 173. Illustrated. Baltimore, Maryland: Williams &amp; Wilkins. 1982.Recognizable Patterns of Human Malformation: Genetic Embryologic and Clinical Aspects (Major Problems in Clinical Pediatrics, vo!. vii). 3rd ed. By W. David and M. D. Smith. Pp. xvii + 653. Illustrated. R78,55. Philadelphia: W. B. Saunders. 1982.The Patient and the Plastic Surgeon. By R. M. Goldwyn. Pp. xiii + 255. Boston: Little, Brown. 1981.The Aging Lumbar Spine. By S. W. Wiesel, P. Bernini and R. H. Rothman. Pp. 257. Illustrated. R69,55. Philadelphia: W. B. Saunders. 1982.Postoperative Complications of Intracranial Neurological Surgery. By N. H. Horwitz and H. V. Rizzoli. Pp. xi + 472. Illustrated. Baltimore: Williams &amp; Wilkins. 1982.Current Topics in Inflammation and Infection (International Academy of Pathology Monograph). Ed. by G. Majno, R. S. Cotran and . Kaufman. Pp. xi + 242. Illustrated. Baltimore, Maryland: Williams &amp; Wilkins. 1982.Radiology of the Ear, Nose and Throat. By G. E. Valvassori, G. D. Porter, W. N. Hanafee, B. L. Carter and R. A. Buckingham. Pp. viii + 342. Illustrated. RI94,30. Philadelphia: \Y/. B. Saunders. 1982.Neuropathology ofParasitic Infections. By W. J. Brown and M. Voge. Pp. 240. Illustrated. RI5,-. Oxford: Oxford Medical Publishers. 1982.Herzkrankheiten: Pathophysiologie, Diagoostik, Therapie. 2nd ed. By H. Roskamm and H. Reindel!. Pp. xxxiii + 1543. Illustrated. DM 278,-. Berlin: Springer-Verlag. 1982.Review ofSpeech, Language and Hearing, vols I, 2and 3. By N. J. Lass, L. V. McReynolds, J. L. Northern and D. E. Yoder. Illustrated. R36,20 each. Philadelphia: W. B. Saunders. 1982