Aetiology of severe mental retardation and further genetic analysis by high‐resolution microarray in a population‐based series of 6‐ to 17‐year‐old children

Aim: To investigate the prevalence, co‐morbidities and aetiologies of severe mental retardation (SMR) in a cohort of Swedish children and to further penetrate aetiologies in the group with undetermined causes by application of updated clinical‐genetic methods. Methods: The study was population‐based and included children living in the County of Halland in western Sweden in 2004 (born 1987–1998; 46 000 children). Patients were identified through habilitation centres, paediatric clinics and school health services. Patients with unclear prenatal aetiology were investigated with single nucleotide polymorphism (SNP)‐array. Results: Severe mental retardation was identified in 133 children from 132 families, corresponding to a prevalence of 2.9 per 1000 children. There were more males than females (90:43).The aetiology was prenatal in 82 (62%), perinatal in 14 (10%) and postnatal in 8 (6%). In 29 (22 %) children, mainly males with autism, the cause could not be related to the time of birth. In the prenatal group, genetic causes dominated, but still 23 children remained undiagnosed; in 5/19 of these patients, a diagnosis could be made after SNP‐array analysis. One or more associated neurological handicaps were found in more than half of the children. Conclusion: Prevalence and co‐morbidity were similar to previous Scandinavian studies. High‐resolution chromosomal micro‐array techniques are valuable diagnostic tools, reducing the number of patients with unexplained SMR.     

Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

Genetic counselling in families with congenital hydrocephalus internus (CHI) in combination with aqueduct stenosis (AS) is often difficult due to an uncertain aetiology. We present a series of 35 patients with CHI and AS focusing on the aetiology and presumed recurrence risk for siblings. In 13 patients (37.1%) a genetic aetiology was identified with an increased recurrence risk for siblings. The relative frequency of patients with X-linked hydrocephalus in our sample was in accordance with the literature (2/35), but was more frequent in other diseases with Mendelian inheritance. Conclusion In addition to the well-known X-linked and autosomal recessive forms of aqueduct stenosis with hydrocephalus, this malformation can occur in other diseases with Mendelian inheritance. This finding is of considerable importance for genetic counselling and prognosis. Received: 29 May 1998 / Accepted in revised form: 25 August 1998     

Aetiology of lower respiratory tract infection in adults in primary care: a prospective study in 11 European countries

ObjectivesTo describe the role of bacteria (including bacterial resistance), viruses (including those recently described) and mixed bacterial–viral infections in adults presenting to primary care with lower respiratory tract infection (LRTI).MethodsIn all, 3104 adults with LRTI were enrolled, of whom 141 (4.5%) had community-acquired pneumonia (CAP), and 2985 matched controls in a prospective study in 16 primary care networks in Europe, and followed patients up at 28–35 days. We detected Streptococcus pneumoniae and Haemophilus influenzae and assessed susceptibility, atypical bacteria and viruses.ResultsA potential pathogen was detected in 1844 (59%) (in 350 (11%) bacterial pathogens only, in 1190 (38%) viral pathogens only, and in 304 (10%) both bacterial and viral pathogens). The most common bacterial pathogens isolated were S. pneumoniae (5.5% overall, 9.2% in CAP patients) and H. influenzae (5.4% overall, 14.2% in CAP patients). Less than 1% of S. pneumoniae were highly resistant to penicillin and 12.6% of H. influenzae were β-lactamase positive. The most common viral pathogens detected were human rhinovirus (20.1%), influenza viruses (9.9%), and human coronavirus (7.4%). Influenza virus, human parainfluenza viruses and human respiratory syncytial virus as well as human rhinovirus, human coronavirus and human metapneumovirus were detected significantly more frequently in LRTI patients than in controls.ConclusionsA bacterial pathogen is identified in approximately one in five adult patients with LRTI in primary care, and a viral pathogen in just under half, with mixed infections in one in ten. Penicillin-resistant pneumococci and β-lactamase-producing H. influenzae are uncommon. These new findings support a restrictive approach to antibiotic prescribing for LRTI and the use of first-line, narrow-spectrum agents in primary care.     

心包积液100例临床分析

目的探讨心包积液病因之间所占比重变化。方法从症状、体征、实验室检查、心脏超声、心包穿刺抽液及手术病理活检等来确立其病因，其后分析各类病因所占比重。结果100例心包积液病因前四位是心衰、心包切开综合征、肿瘤与结核。结论心衰是引起心包积液最常见原因。     

CLINICAL STUDIES OF PRIMARY ANGLE CLOSURE GLAUCOMA

ＣＬＩＮＩＣＡＬＳＴＵＤＩＥＳＯＦＰＲＩＭＡＲＹＡＮＧＬＥＣＬＯＳＵＲＥＧＬＡＵＣＯＭＡＷａｎｇＮｉｎｇｌｉ王宁利，ＺｈｏｕＷｅｎｂｉｎ周文炳，ＹｅＴｉａｎｃａｉ叶天才，ＷｕＺｈｏｎｇｙａｏ吴中耀，ＬｉｕＨｕａ刘华ＣＬＩＮＩＣＡＬＳＴＵＤＩＥＳＯＦＰ...     

Imbalance of electromyographic activity and physical rehabilitation of patients with idiopathic scoliosis

Summary In order to monitor changes in postural performance capacity in patients with idiopathic scoliosis after an intensive in-patient Schroth rehabilitation programme [17] lasting several weeks, we undertook electromyographic investigations in 316 patients with a mean age of 20 years (range 8–76 years) and a mean Cobb curvature angle of 38.2° (range 10°–147°). Electromyographic activity was recorded by means of surface electrodes in the thoracic and lumbar region at the level of the apical vertebra, paravertebrally on both sides of the erector spinae muscle during trunk lifting from the prone position. Two hundred and fifty-nine recordings without artefacts were evaluated. Significant reductions in muscle activity of 6.85% in the thoracic convex region (P<0.05) and of 14.2% (P<0.001) on the lumbar convex side were found. The activity quotient (convesx/concave) was reduced by 11.99% (P<0.001) in the thoracic region and by 7.91% (P<0.01) in the lumbar region. These findings confirm the improvement of postural performance capacity after an intensive in-patient Schroth rehabilitation programme. As the imbalance of electromyographic activity may be influenced by scoliosis-specific exercises leading to a highly significant reduction of the Cobb angle, it is assumed to be secondary to the development of the scoliotic curve and may not be a primary factor in the aetiology of idiopathic scoliosis.     

Space–Time Clustering of Glioma Cannot be Attributed to Specific Histological Subgroups

We previously showed that infectious exposures may be involved in the aetiology of adult glioma, by analysing for space–time clustering using population-based data from the South of the Netherlands. Here we extended these analyses and describe in detail the space–time clustering patterns in glioma subgroups, gender and age-categories. Knox tests for space–time interactions between cases were applied with fixed thresholds of close in space, <5 km, and close in time, <1 year apart. We used the spatial coordinates of the addresses at diagnosis in the analyses. Tests were repeated replacing geographical distance with distance to the Nth nearest neighbour. N was chosen such that the mean distance was 5 km. Data were also analysed by a second order procedure based on K-functions. There was only statistically significant space–time clustering for oligodendroglioma. Clustering was present for adults aged 30–54 years and was more pronounced among males. Given the low prior probability of an infectious aetiology for this specific subgroup, these results should probably be interpreted as false-positive. We conclude that space–time clustering of glioma cannot be attributed to a specific glioma subgroup. The observed clustering in our previous study is therefore probably an overall effect within and between glioma subgroups.     

The incidence and aetiology of central nervous system infections in Helsinki in 1980

The aetiology of central nervous system infections was surveyed in a study at Aurora Hospital, Helsinki, in 1980. Of the 146 patients with central nervous system infections, 113 had aseptic meningitis, 23 bacterial and one tuberculous meningitis, and nine meningoencephalitis or encephalitis. The probable aetiology of aseptic meningitis was established in 67% of the 106 patients properly tested, the commonest agents being mumps (27%), Coxsackie (24%) and ECHO (9%) viruses. Haemophilus influenza type b was the most frequent cause of bacterial meningitis (39%), occurring solely among infants and young children. There were no cases due to Neisseria meningitidis group A, which used earlier to be epidemic in Finland. The incidences of aseptic, bacterial and tuberculous meningitis in Helsinki in 1980 (based on a total of 174 patients treated in the three hospitals admitting patients with central nervous system infections) were 26.7, 5.2 and 0.2 cases per 100,000 annually, and those of encephalitides and myelitis 3.5 and 0.6 cases per 100,000 annually.