Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.

INTRODUCTION: N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment. CASE REPORT: We report on a Turkish family with a patient who died due to hyperammonemia in the neonatal period. Reduced activity of NAGS and carbamyl phosphate synthetase were found at autopsy. A second child who developed hyperammonemia on the second day of life was immediately treated with arginine hydrochloride, sodium benzoate and protein restriction. After NAGS deficiency was suspected by enzyme analysis, sodium benzoate was replaced by N-carbamylglutamate (NCG). A third child who developed slight hyperammonemia on the third day of life was treated with NCG before enzyme analysis confirmed reduced NAGS activity. Neither of the patients developed hyperammonemia in the following years. After the human NAGS gene was identified, mutation analysis revealed that the older sibling on NCG therapy was homozygous for a 971G>A (W324X) mutation. The parents and the younger sibling were heterozygous. Therapy was continued in the older sibling until now without any adverse effects and favourable neurodevelopment outcome. In the younger sibling, therapy was stopped without any deterioration of urea cycle function. CONCLUSION: NAGS deficiency can be successfully treated with NCG and arginine hydrochloride with favourable outcome. Molecular diagnostic rather than enzyme analysis should be used in patients with suspected NAGS deficiency.

The status of the performance of medication reviews in German community pharmacies and assessment of the practical performance.

Background Pharmacist-led medication reviews have shown to prevent drug-related problems (DRPs). So far, data is rare about the implementation in routine care, the conditions for intensifying this service and the practical skills of community pharmacists to perform medication reviews. Objective To assess the current status of medication review implementation in German community pharmacies and the performance of identifying DRPs in a ficticious patient example. Setting German community pharmacies. Method An online survey was conducted from July to September 2015 including questions about medication reviews currently performed in routine care of community pharmacies and hidden DRPs in a ficticious patient example. Pharmacists were invited via newsletters from three local chambers of pharmacists. Main outcome measure (i) Frequency, conditions for implementation, and criteria of medication reviews currently being performed in routine care, (ii) requested further information to perform medication reviews, and (iii) proportion of pharmacists who identify DRPs in the patient example. Results A total of 143 community pharmacists completed the questionnaire. (i) One hundred and twenty-seven respondents (89 %) reported reviewing the medication regularly in routine care, whereas 56 (39 %) stated that they performed medication reviews between one and five times monthly. For 124 pharmacists (87 %), remuneration would be a necessary condition for performing medication reviews more frequently. When reviewing the medication, 112 (78 %) of the pharmacists considered the criterion 'drug-drug interactions' and 107 (75 %) reviewed the criterion 'correct dosage'. One of the least reviewed criteria was 'effectiveness of medication' [22 (16 %)]. (ii) According to the participants, laboratory values should be available in the community pharmacy, since 87/143 (61 %) would appreciate the GFR and the HbA1c level. Twenty-two of 54 respondents (41 %) would appreciate further administration instructions and 5 of 54 (15 %) think they would benefit from information about the recommended duration of drug use. (iii) Depending on the category, 4 (3 %) to 49 (34 %) of all 143 pharmacists identified the hidden DRP in the patient example. Conclusion German community pharmacists reported reviewing the medication of their patients regularly; however, most of the respondents review the medication very rarely in routine care. Consequently, their practical performance needs to be improved.

Medication and Treatment Adherence Following Hospital Discharge.

BACKGROUND: Patients' drug regimens often need to be changed when they pass from one care sector to another, but these changes sometimes pose a safety risk. To avoid such risks, a new inter-sector transition concept was developed incorporating discharge medication plans and counseling modules for the patients themselves and the doctors receiving them into their care. METHODS: A prospective interventional trial was carried out in two internal medicine wards of a general hospital. After data acquisition from the control group, the transition concept was developed and evaluated in an independent intervention group. The discharge medication plan and the first post-discharge prescription were compared to identify patients who had at least one medication change that increased the post-discharge risk of either failure to achieve the therapeutic goal (category A, first endpoint) or of patient's lack of treatment adherence (category B). Gaps in care after discharge were also analyzed. RESULTS: 200 consecutive patients were enrolled in the trial. In the intention-to-treat analysis, the percentage of patients with potentially jeopardizing medication changes in category A declined from 54% (54/100) in the control group to 15% (15/100) in the intervention group. (p<0.001). For medication changes in category B, there was a corresponding decline from 53% (53/100) to 7% (7/100) (p < 0.001). Gaps in care were seen in 28% (28/100) of control patients and 18% (18/100) of patients in the intervention group (p = 0.031). CONCLUSION: The likelihood of a potentially jeopardizing medication change upon hospital discharge can be markedly reduced with the aid of a modular transition concept. Gaps in care can be closed in this way as well.