HINT1 neuropathy in Norway: clinical, genetic and functional profiling.

Background: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.

The Terrible Summer of 1952 … When Polio Struck Our Family.

This is the story of my twin brother's struggle with polio. The story reflects the thoughts and feelings of Lyle and members of his family and describes how we all coped with the event.

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

Background: Next-generation sequencing (NGS) is a genetic technique used to determine the order of nucleotides in DNA. The technique has proved to be more efficient than the traditional method, Sanger sequencing, for sequencing multiple genes. NGS is now being used to diagnose disorders in which multiple genes are involved.

Clinical exome sequencing – Norwegian findings.

Background: New DNA-sequencing technology is revolutionising medical diagnostics. Through the use of exome sequencing, it is now possible to sequence all human genes in parallel. This technology has been widely used in research over the last few years and is now also being applied to diagnostics.

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive.

High levels of multiresistance in quinolone resistant urinary tract isolates of Escherichia coli from Norway; a non clonal phenomen?

Background: The problem of emerging ciprofloxacin resistance is compounded by its frequent association with multiresistance, the reason for which is not fully understood. In this study we compare multiresistance, clonal similarities and phylogenetic group in urinary tract isolates of Escherichia coli sensitive and resistant to the quinolone antimicrobials nalidixic acid and ciprofloxacin.

Results: Quinolone resistant isolates were more resistant to non-quinolone antibiotics than sensitive isolates, with resistance to ampicillin, mecillinam, sulphonamide, trimethoprim, tetracycline, kanamycin and chloramphenicol significantly increased.

Multilocus sequence typing and ftsI sequencing: a powerful tool for surveillance of penicillin-binding protein 3-mediated beta-lactam resistance in nontypeable Haemophilus influenzae.

Background: Beta-lactam resistance in Haemophilus influenzae due to ftsI mutations causing altered penicillin-binding protein 3 (PBP3) is increasing worldwide. Low-level resistant isolates with the N526K substitution (group II low-rPBP3) predominate in most geographical regions, while high-level resistant isolates with the additional S385T substitution (group III high-rPBP3) are common in Japan and South Korea.Knowledge about the molecular epidemiology of rPBP3 strains is limited.

Simultaneous detection, typing and quantitation of oncogenic human papillomavirus by multiplex consensus real-time PCR.

A consensus multiplex real-time PCR test (PT13-RT) for the oncogenic human papillomavirus (HPV) types 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59 and 66 is described. The test targets the L1 gene. Analytical sensitivity is between 4 and 400 GU (genomic units) in the presence of 500 ng of human DNA, corresponding to 75,000 human cells.

Sulfonamides as selective oestrogen receptor β agonists.

A series of p-hydroxybenzenesulphonamides ERβ receptor agonists were discovered and several compounds identified had excellent selectivity over the related ERα receptor. One of these, compound 11, had an interesting binding conformation determined by X-ray and represents an excellent starting point in the quest for further selective ERβ agonists.

Emergence of fluoroquinolone-resistant clonal group A: clonal analysis of Norwegian and Russian E. coli isolates.

We describe a study of urinary tract and intestinal isolates of Escherichia coli from Norway and Russia using automated ribotyping, single nucleotide polymorphism analysis for clonal group A (CgA) supplemented with phylogrouping, virulence gene profiling and resistance profiling. CgA comprised 19% of the Norwegian UTI isolates from 2001. Two highly multiresistant fluoroquinolone-resistant CgA isolates were found.

Drug therapy problems found in ambulatory patient populations in Minnesota and South Australia.

Objective: To compare drug therapy problems identified by pharmacists in two patient samples, the Minnesota Sample and the South Australian Sample.

Methods: Two patient samples were selected for this comparison. Both sets of patients received pharmaceutical care services from pharmaceutical care practitioners between March 1999 and February 2000.

Consistent standards in medication use: the need to care for patients from research to practice.

Objective: To propose adoption of practice standards for pharmacists based on the principles of pharmaceutical care that are parallel to internationally accepted ethical precepts governing clinical research.

Data Sources: Relevant literature selected by the authors.

Summary: Pharmaceutical care practice standards can create a continuum of high quality care for patients from research through practice and are presented as a rational solution to managing the benefits and risks of medication use.

The impact of pharmaceutical care practice on the practitioner and the patient in the ambulatory practice setting: twenty-five years of experience.

This manuscript reviews 25 years of experience that include developing the practice of pharmaceutical care and initiating new practices. The impact this practice has on practitioners in the ambulatory setting is described as well as data that reflect its clinical and economic impact. There is a great need to prepare new practitioners to provide pharmaceutical care.

Critically examining pharmaceutical care.

In the past decade, growing numbers of practitioners worldwide have adopted pharmaceutical care as an integral component of pharmacy practice. Established models of pharmaceutical care can reduce the burden of preventable drug therapy problems, but this promise has not yet been realized. Although many challenges remain, the profession has key resources to expand and improve the delivery of pharmaceutical care.