Patient-reported effects of hospital-wide implementation of shared decision-making at a university medical centre in Germany: a pre-post trial.

OBJECTIVES: To evaluate the feasibility and effectiveness of the SHARE TO CARE (S2C) programme, a complex intervention designed for hospital-wide implementation of shared decision-making (SDM). DESIGN: Pre-post study. SETTING: University Hospital Schleswig-Holstein (UKSH), Kiel Campus. PARTICIPANTS: Healthcare professionals as well as inpatients and outpatients from 22 departments of the Kiel Campus of UKSH. INTERVENTIONS: The S2C programme is a comprehensive implementation strategy including four core modules: (1) physician training, (2) SDM support training for and support by nurses as decision coaches, (3) patient activation and (4) evidence-based patient decision aid development and integration into patient pathways. After full implementation, departments received the S2C certificate. MAIN OUTCOME MEASURES: In this paper, we report on the feasibility and effectiveness outcomes of the implementation. Feasibility was judged by the degree of implementation of the four modules of the programme. Outcome measures for effectiveness are patient-reported experience measures (PREMs). The primary outcome measure for effectiveness is the Patient Decision Making subscale of the Perceived Involvement in Care Scale (PICSPDM). Pre-post comparisons were done using t-tests. RESULTS: The implementation of the four components of the S2C programme was able to be completed in 18 of the 22 included departments within the time frame of the study. After completion of implementation, PICSPDM showed a statistically significant difference (p<0.01) between the means compared with baseline. This difference corresponds to a small to medium yet clinically meaningful positive effect (Hedges' g=0.2). Consistent with this, the secondary PREMs (Preparation for Decision Making and collaboRATE) also showed statistically significant, clinically meaningful positive effects. CONCLUSIONS: The hospital-wide implementation of SDM with the S2C-programme proved to be feasible and effective within the time frame of the project. The German Federal Joint Committee has recommended to make the Kiel model of SDM a national standard of care.

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.

Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist of prophylactic and supportive treatment of the recurrent infections. Here, we report the case of a 1-year-old boy of Moroccan consanguineous parents, who was diagnosed at 4 months of age with ICF syndrome with a homozygous missense mutation in the DNMT3B gene. He was initially admitted to the hospital with recurrent pulmonary infections from the opportunistic pathogen Pneumocystis jirovecii (PJ). Further immunological workup revealed agammaglobulinemia in the presence of B cells. After successful recovery from the PJ pneumonia, he underwent hematopoietic stem cell transplantation (HSCT) from the HLA-matched healthy sister using a chemotherapeutic conditioning regimen consisting of treosulfan, fludarabine, and thiotepa. Other than acute chemotherapy-associated side effects, no serious adverse events occurred. Six months after HSCT immune-reconstitution, he had a stable chimerism with 2.9% autologous portion in the peripheral blood and a normal differential blood cell count, including all immunoglobulin subtypes. This is one of the first cases of successful HSCT in ICF syndrome. Early diagnosis and subsequent HSCT can prevent severe opportunistic infections and cure the immunodeficiency. Centromeric instability and facial anomaly remain unaffected. Although the long-term patient outcome and the neurological development remain to be seen, this curative therapy for immunodeficiency improves life expectancy and quality of life. This case is meant to raise physicians awareness for ICF syndrome and highlight the consideration for HSCT in ICF syndrome early on.

Upgrade of deep bed filtration with activated carbon dosage for compact micropollutant removal from wastewater in technical scale.

The removal of micropollutants from drinking and wastewater by powdered activated carbon (PAC) adsorption has received considerable attention in research over the past decade with various separation options having been investigated. With Switzerland as the first country in the world having adopted a new legislation, which forces about 100 wastewater treatment plants to be upgraded for the removal of organic micropollutants from municipal wastewater, the topic has reached practical relevance. In this study, the process combination of powdered activated carbon (PAC) adsorption and deep bed filtration (DBF) for advanced municipal wastewater treatment was investigated over an extended period exceeding one year of operation in technical scale. The study aimed to determine optimum process conditions to achieve sufficient micropollutant removal in agreement with the new Swiss Water Ordinance under most economic process design. It was shown that the addition of PAC and Fe(3+) as combined coagulation and flocculation agent improved effluent water quality with respect to dissolved organic pollutants as well as total suspended solids (TSS), turbidity and PO4-P concentration in comparison to a DBF operated without the addition of PAC and Fe(3+). Sufficient micropollutant (MP) removal of around 80% was achieved at PAC dosages of 10 mg/L revealing that PAC retained in the filter bed maintained considerable adsorption capacity. In the investigated process combination the contact reactor serves for adsorption as well as for flocculation and allowed for small hydraulic retention times of minimum 10 min while maintaining sufficient MP removal. The flocculation of two different PAC types was shown to be fully concluded after 10-15 min, which determined the flocculation reactor size while both PAC types proved suitable for the application in combination with DBF and showed no significant differences in MP removal. Finally, the capping of PAC dosage during rain water periods, which resulted in lower dosage concentrations, was efficient in limiting PAC consumption during these events without suffering from negative effects on process performance or effluent quality.

Comparison of two PAC/UF processes for the removal of micropollutants from wastewater treatment plant effluent: process performance and removal efficiency.

Two hybrid membrane processes combining powdered activated carbon (PAC) adsorption with ultrafiltration (UF) were investigated regarding operational performance and efficiency to remove organic micropollutants from municipal wastewater treatment plant effluent. A pressurized PAC/UF (pPAC/UF) and a submerged PAC/UF (sPAK/UF) system were operated continuously over a period of six months. Both UF membrane systems showed good compatibility with the application of PAC showing no abrasion or other negative impacts. The pPAC/UF system reached permeability values up to 290 L/(m² h bar) at high fluxes of 80 L/(m² h) compared to the sPAC/UF with a permeability of up to 200 L/(m² h bar) at fluxes of up to 23 L/(m² h). Surface analysis of both membranes with scanning electron microscopy revealed no membrane deterioration after the six-month period of operation. On the surface of the pressurized membrane the formation of a PAC layer was observed, which may have contributed to the high permeability by forming a protective coating. Five micropollutants, i.e. sulfamethoxazole, carbamazepine, mecoprop, diclofenac and benzotriazole in ambient effluent concentrations were investigated. Both PAC/UF systems removed 60-95% of the selected micropollutants at a dosage of 20 mg PAC/L and 4 mg Fe(3+)/L. However, extreme peak loads of sulfamethoxazole with concentrations of up to 30 µg/L caused a considerable performance decrease for more than a week.

Normative values of polysomnographic parameters in childhood and adolescence: quantitative sleep parameters.

OBJECTIVE: To provide normative values for sleep macroarchitecture of healthy children aged 1-18 years using the AASM sleep scoring criteria, assessing the effects of gender, age, and Tanner pubertal stage. METHODS: One-night polysomnography was performed at subjects' habitual bedtimes in 16 laboratories on 209 healthy German children. RESULTS: Normal values of sleep macrostructure show significant age dependencies (p<0.05). Increasing with age: awakening index, R latency (RL), sleep efficiency (SE) (total sleep time (TST)/sleep period time (SPT)) and SE (TST/time in bed), stage N2, mean sleep cycle duration, number of stage shifts. Decreasing with age: TST, SPT, wake after sleep onset, stage N3, stage R, movement time (MT), number of sleep cycles. The following sleep parameters show a dependency on Tanner stages as well as corresponding age (p<0.05):TST, SPT, awakening index, R latency, stage N2, stage N3, MT, number of sleep cycles, mean sleep cycle duration. No gender dependencies were found. CONCLUSION: The given study, considering AASM rules, shows the development of sleep in normal children ages 1-18. Subject selection criteria and other factors influencing sleep as well AASM guideline modifications including scoring arousals in N2 and scoring MT as a measure of sleep fragmentation are discussed.

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 G--> A) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we detected a very low concentration of authentic, heterodimeric TSH in serum, indicating the production of a small amount of correctly spliced TSH mRNA. By genotyping all family members with polymorphic markers at the TSHbeta locus, we show that the mutation arose on a common ancestral haplotype in three unrelated Turkish families indicating a founder mutation in the Turkish population. These results suggest that this TSHbeta mutation is among the more common TSHbeta gene mutations and stress the need for a biochemical and molecular genetic workup in children with symptoms suggestive of congenital hypothyroidism, even when the neonatal TSH screening is normal.

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Isolated TSH deficiency as a cause for congenital hypothyroidism is relatively uncommon. Even more rare is the identification of mutations in the TSHbeta gene, only four of which have been identified. We here report a 4-month-old girl with isolated TSH deficiency born to consanguineous parents. Sequencing of the TSHbeta-subunit gene revealed a homozygous G to A transition at position +5 of the donor splice site of intron 2. TSHbeta gene transcript could not be obtained from fibroblasts or white blood cells by illegitimate amplification. Thus, to investigate further the mechanism leading to TSH deficiency in this patient, we used an in vitro exon-trapping system. The mutation at position +5 of the donor splicing site produced a skip of exon 2. The putative product of translation from a downstream start site is expected to yield a severely truncated peptide of 25 amino acids. Surprisingly, a missense substitution affecting the 14th amino acid of the signal peptide (SigP A14T) was found in one allele of the mother and brother. SigP 14T is polymorphic with a frequency of 1.8% and has no functional consequence.