A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.

BACKGROUND Brown-Vialetto-Van Laere (BVVL) syndrome is a rare autosomal recessive disorder caused by mutations in intestinal riboflavin transporter genes, resulting in a motor neuron disorder of childhood, which can be associated with sensorineural deafness. This report describes a 4-year-old Polish girl with progressive hearing loss and delayed speech development diagnosed with Brown-Vialetto-Van Laere syndrome who was treated with riboflavin (vitamin B2) and cochlear implants. CASE REPORT The case report concerns a girl from Poland who, at the age of 2 years 10 months, developed progressive atypical neurological symptoms of unknown etiology: ataxia of the upper and lower limbs, gait abnormalities, generalized muscle weakness, visual and hearing problems, and regression of speech development. A karyotype study (whole-exome sequencing) revealed alterations within SLC52A2, leading to the diagnosis of Brown-Vialetto-Van Laere syndrome and initiation of high-dose riboflavin treatment. As a 4-year-old child, she presented to the Institute of Physiology and Pathology of Hearing - World Hearing Center in Poland with progressive hearing loss and speech regression. Hearing tests revealed bilateral profound sensorineural hearing loss with auditory neuropathy. Surgical treatment was applied in the form of bilateral cochlear implantation. CONCLUSIONS This report shows the importance of genetic testing in infants who present with atypical symptoms or signs. In this case, the diagnosis of Brown-Vialetto-Van Laere syndrome resulted in timely correction of the genetic riboflavin (vitamin B2) deficiency and improved hearing following the use of cochlear implants.

Improving the provision of OTC medication information in community pharmacies in Poland.

Background An informed or shared decision-making model is desirable to support the choice of over-the-counter (OTC) medications in pharmacies: it respects patient empowerment in self-medication. Such a model is achievable provided that pharmacists are a credible, competent information source open to patient needs. Objective To study the dependencies among selected factors that may influence the provision of OTC medication information. The study was conducted from the perspective of a community pharmacist. Method The study consisted of an auditorium survey with a self-administered questionnaire. We attempted to determine the relationships among three selected constructs: patient centredness (four items), competence (four items), and provision of OTC medication information (six items) as latent variables. We analysed hypothetical relationships among the observable variables and latent variables using structural equation modelling. Main outcome measure Selected factors that may influence the provision of OTC medication information. Results In all, 1496 pharmacists took part in the study. The model demonstrated adequate fit (χ2 = 198.39, df = 64). The patient-centredness construct was demonstrated to have a strong direct positive impact on the provision of OTC medication information construct (ß = 0.77, P < 0.05). Provision of OTC medication information was also shown to have a strong direct effect on the competence variable (ß = 0.90, P < 0.05). Conclusion If a pharmacist is patient centred, there is a greater possibility that they will provide information about OTC medicines; that may influence the pharmacist's feelings about their ability to cope with patient initiatives and enhance the pharmacist's selfperceived competence.

Can inter-faculty relationships improve future collaboration between physicians and community pharmacists in Poland?

Pharmaceutical care requires interprofessional collaboration between pharmacists and physicians. The aim of this paper is to determine the nature of inter-faculty relationships between medical and pharmacy students and its possible influence on the attitudes of medical students towards pharmacists and pharmaceutical care. The study was conducted using anonymous questionnaire administered to all medical students at the Medical University of Warsaw, Poland. The study involved 404 medical students (265 women and 139 men). Fifty-four percent of students reported that they maintained relationships with pharmacy students. Students had mixed views about the nature of the interprofessional relationship between physicians and pharmacists. Only 22% (n = 87) of the students had heard about pharmaceutical care. However, a number expressed interest in this form of collaboration in their future professional career. Students also claimed that they did not consider themselves prepared for the future collaboration with pharmacists in providing pharmaceutical care services, but they would like to participate in relevant interprofessional workshops with pharmacy students. The results from this study suggest that social relationships between medical and pharmacy students may have some effect on how pharmacists and their role is perceived and also on medical students' attitudes towards pharmaceutical care.

Attitudes towards conscientious objection among community pharmacists in Poland.

BACKGROUND: The European Council Resolution 1763 (2010), ''The right to conscientious objection in lawful medical care'', provoked a discussion among Polish pharmacists on the necessity for granting them the right to refuse to dispense medicinal products which invoke conscientious objection. OBJECTIVE: To explore attitudes of Polish pharmacists towards the conscience clause. SETTING: Pharmacies with public e-mail addresses in various parts of Poland (Lower Silesia Province, Mazovia Province, Kuyavia-Pomerania Province, and West Pomeranian Province). METHOD: An online survey questionnaire addressed to 1,454 pharmacies. The participants were asked 8 questions,including a question addressed only to pharmacy managers and owners. MAIN OUTCOME MEASURE: Attitudes towards the right to conscientious objection for pharmacists. RESULTS: Ultimately, responses of 126 pharmacists (83 women, 43 men, average age-39 years of age) were taken into consideration. Most participants (92 %) have never refused to fill a prescription due to their beliefs; however, 15 % of participants state that if the conscience clause were legally sanctioned, they would exercise this right. Most participants(73 %) think that pharmacists should not have the right to conscientious objection. Almost half of participants who support implementation of the conscience clause would grant this right to pharmacists on a conditional basis, if the pharmacists were obliged to present other real options to the patient about obtaining a specific product. CONCLUSION: Pharmacists are rather reluctant to the idea of implementing the conscience clause, but despite a clear majority of its opponents, there seems to be a necessity for introducing such a regulation.

[Peripartum cardiomyopathy, acute autoimmune pancreatitis and periadipose tissue inflammation - autoimmune reaction?]. / Kardiomiopatia pologowa a ostre zapalenie trzustki i tkanki tluszczowej - reakcja autoimmunologiczna?

A case of 26 year-old female with peripartum cardiomyopathy, acute pancreatitis, periadipose tissue inflammation due to unknown cause and multiple organ dysfunction syndrome complication is presented.

Barriers to treatment for visceral leishmaniasis in hyperendemic areas: India, Bangladesh, Nepal, Brazil and Sudan.

CONTEXT: Visceral leishmaniasis (VL) is a severe and potentially fatal infection caused by the trypanosome parasite Leishmania sp. Over 90% of reported cases occur in India, Bangladesh, Nepal, Sudan, and Brazil, affecting mainly impoverished individuals and creating a significant economic burden through direct and indirect costs of treatment. OBJECTIVES: To identify the direct and indirect costs of VL treatment, compare these costs to household income, and identify the barriers to treatment in each of the five VL-endemic countries. METHODS: Articles obtained through PubMed (US National Library of Medicine), EMBASE, and Cochrane Library were selected for relevance to VL treatment, costs for all forms of amphotericin B, miltefosine, paromomycin, and antimony compounds, and healthcare costs in India, Bangladesh, Nepal, Brazil, and Sudan. Healthcare statistics were obtained from the World Health Organization Statistical Information System, Médecins Sans Frontieres, and each country's national health ministry. RESULTS: Per capita GDP, per capita GNI, cost of drugs, and hospitalization expenses differ by up to 10-fold in each of the five countries where VL is hyperendemic, resulting in unequal barriers to treatment. We found that the cost of specific drugs influences the choice of therapy. CONCLUSIONS: Poverty and VL treatment-related costs cause potential limitations in the provision of full and efficacious treatment, which may result in further dissemination of the disease. Effective nonparenteral antileishmania drugs would provide a significant advantage in reducing the barriers to VL treatment.

Repolarization parameters in patients with acute ST segment elevation myocardial infarction treated with primary percutaneous coronary intervention with respect to predischarge ST-T pattern: a preliminary study.

BACKGROUND: Negative T wave and lack of ST segment elevation in predischarge ECG in ST-segment elevation myocardial infraction (STEMI) patients are given as markers of good prognosis. Repolarization duration, especially its late part (TpeakTend - TpTe), likewise ST-T patterns, is related to local post-myocardial infarction myocardial attributes. We analyzed the differences in QT parameters in STEMI patients with negative or not-negative T wave pattern in predischarge ECG. METHODS: The data from 83 STEMI patients (LVEF > 45%, first MI, one-vessel disease) who underwent successful percutaneous coronary intervention of infarct-related coronary artery (TIMI 3 flow) were collected. According to ST-T patterns in predischarge ECG, the cohort was divided into two groups: 38 patients with persistent ST elevation and/or non-negative T wave pattern (STT+), and 45 patients with negative T wave, without ST elevation (STT-). QT, QTpeak, and TpTe intervals were obtained from 5 consecutive beats of sinus rhythm 60-70 bpm between 6 a.m. and 8 a.m. from Holter recording, corrected to the heart rate (HR) with Bazett's formula. RESULTS: The study groups did not differ in gender, age, or treatment. No true antiarrhythmics were given. Both QTc and TpTec were longer in STT+ patients: 459 +/- 26 ms vs. 440 +/- 25 ms, p = 0.01 and 108 +/- 10 ms vs. 96 +/- 11 ms, p = 0.000015, respectively. Prolongation of late repolarization was found both in anterior and inferior infarction. CONCLUSIONS: STEMI patients who underwent successful percutaneous coronary intervention of infarct-related coronary arteries and demonstrated persistent ST elevation, without negative T wave at hospital discharge, had a longer repolarization duration, especially the late phase of it. Further studies are necessary to assess the prognostic value of this finding.