Parkinson disease loci in the mid-western Amish.

Previous evidence has shown that Parkinson disease (PD) has a heritable component, but only a small proportion of the total genetic contribution to PD has been identified. Genetic heterogeneity complicates the verification of proposed PD genes and the identification of new PD susceptibility genes. Our approach to overcome the problem of heterogeneity is to study a population isolate, the mid-western Amish communities of Indiana and Ohio. We performed genome-wide association and linkage analyses on 798 individuals (31 with PD), who are part of a 4,998 member pedigree. Through these analyses, we identified a region on chromosome 5q31.3 that shows evidence of association (p value < 1 × 10(-4)) and linkage (multipoint HLOD = 3.77). We also found further evidence of linkage on chromosomes 6 and 10 (multipoint HLOD 4.02 and 4.35 respectively). These data suggest that locus heterogeneity, even within the Amish, may be more extensive than previously appreciated.

[Relevance of parents as source for contamination of neonates with multiresistant Gram-negative pathogens (MRGN)]. / Bedeutung der Eltern als Quelle bei der Besiedlung von Neonaten mit multiresistenten gramnegativen Erregern (MRGN).

BACKGROUND: There is an increase in nosocomial contamination and infection with multi-resistant bacteria among NICU patients. In 2011 we had to deal with an outbreak from multi-resistant Klebsiella pneumoniae in our NICU. Analysing the situation, we found 3 different clonal tribes. We presume that there are different sources for the contamination with multiresistant Gram-negative pathogens (MRGN) and we suspect that parents of NICU children may be of some importance. We studied in a one-year setting whether the incidence of nosocomial contaminations and infections may be prevented in a setting of barrier nursing and surveillance of the NICU patients and their parents. Our study was prospective and justified by a vote of support from the ethics committee of the 'Hamburger Ärztekammer' as well as additional funding from the Asklepios-Hamburg Pro-Research for the laboratory expenses. MATERIAL AND METHODS: In a one-year study we undertook a programme of barrier nursing for all children admitted to our NICU with bacteriological surveillance on their entry into the NICU for children and their parents with anal and pharyngeal-nasal swabs. As long as there were no results, barrier-nursing for the children, their parents and staff was maintained. Where negative results were found, barrier-nursing was interrupted and children were nursed under normal hygienic conditions. Surveillance cultures from the children were taken once a week until being released. In cases of detection of MRGN bacteria, barrier-nursing was implemented together with room isolation. RESULTS: We detected 23 families carrying MRGN bacteria pre-existent before hospitalisation. In cases of MRGN findings, barrier-nursing and room isolation were maintained. Under these circumstances, there were 6 cases of contamination of NICU children, 4 after vaginal delivery and secondary admittance in the NICU. The circumstances for the 2 others are discussed. CONCLUSION: Parents are an important source for MRGN bacteria in the NICU. The early detection of those carriers is important for the avoidance of outbreaks in an NICU. In most cases, contamination and infection can be prevented.

[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. / Megacystis-Microcolon intestinales Hypoperistaltik-Syndrom (MMIHS) als seltene Differenzialdiagnose bei fetaler Megacystis im Ultraschall.

INTRODUCTION: Foetal megacystis (incidence 1:1 500) occurring in the first trimester may already be a sign of congenital malformation. Often, urethral valves are causally responsible in male foetuses far more frequently than urethral atresia. As a further differential diagnosis, the "prune-belly syndrome" needs to be distinguished. Far more difficult to classify prenatally is the rare MMIHS which, in contrast to the diagnosis of urethral valves, is associated with an unfavourable prognosis. CASE REPORT: This is a report on a 28-year-old IG/0P, whose foetus of 26+4 gestational weeks was found on ultrasonography for the first time to have a megacystis of 48 mm diameter and bilateral hydronephrosis. The female foetus was surrounded by a normal amount of amniotic fluid which, during the further course of the pregnancy, developed into polyhydramnios. The serial puncture of the urinary bladder showed a normal karyotype and no impairment of the renal concentrating capacity or of protein loss. By reason of an immense enlargement of the abdomen due to the 100 mm large urinary bladder, a Caesarean section was conducted at 36+0 gestational weeks. A catheter could be inserted into the urinary bladder postpartum easily. However, nourishment was not possible and after radiological examination, MMIHS was diagnosed. CONCLUSION: In the case of a foetal megacystis detected by ultrasonography, especially associated with polyhydramnios and female gender, the rare MMIHS, which is infaust, should be taken into consideration.

Broad-host-range IncP-4 plasmid R1162: effects of deletions and insertions on plasmid maintenance and host range.

R1162 is an 8.7-kilobase (kb) broad-host-range replicon encoding resistance to streptomycin and sulfa drugs. In vitro deletion of 1.8-kb DNA between coordinates 3.0 and 5.3 kb did not affect plasmid maintenance, but a Tn1 insertion at coordinate 6.3 kb led to a recessive defect in plasmid maintenance. The only cis-acting region necessary for plasmid replication appears to lie between the Tn1 insertion at coordinate 6.3 kb and a second Tn1 insertion at coordinate 6.5 kb. All R1162 sequences between position 6.5 kb and the EcoRI site at coordinate 8.7/0 kb were dispensible for replication in Escherichia coli and Pseudomonas putida. Plasmids carrying insertions in a variety of restriction sites in an R1162::Tn1 derivative were unstable in P. putida but stable in E. coli. Tn5 insertions in R1162 showed a hot spot at coordinate 7.5 kb. A Tn5 insertion at coordinate 8.2 kb appeared to mark the 3' end of the streptomycin phosphotransferase coding sequence. All R1162::Tn5 derivatives showed specific instability in Pseudomonas strains but not in E. coli. The instability could be relieved by internal deletions of Tn5 sequences. In the haloaromatic-degrading Pseudomonas sp. strain B13, introduction of an unstable R1162::Tn5 plasmid led to loss of ability to utilize m-chlorobenzoate as a growth substrate. Our results showed that alteration of plasmid sequence organization in nonessential regions can result in restriction of plasmid host range.