Kliničko terapijske specifičnosti shizofrenije s prodromima i ranim početkom - model rizičnog mentalnog stanja i shizofrene vulnerabilnosti

Shizofreniji, kao i drugim psihotičnim oboljenjima, često prethode prodromalne izmjene u ponašanju, koje mogu trajati od nekoliko dana do nekoliko godina, nagovještavajući početak psihoze. Ako bolest počne u ranijem uzrastu, posebno u adolescenciji, prodromalna faza je nespecifična i teža za prepoznavanje i intervencije. Postoji veći broj operacionalnih instrumenata kojima se klinički procjenjuju i kvantificiraju prodromalni simptomi i “rizično mentalno stanje“, kao i prediktivni potencijal za psihozu. U radu je opisana prodromalna faza u razvoju shizofrene psihoze s ranim početkom, s naglaskom na postupnom, višemjesečnom obogaćivanju psihopatologije i evolucijom nespecifičnih i atenuiranih (subklinički) prodromalnih simptoma u floridne shizofrene simptome. Također se ukazuje na optimalne mogućnosti terapijskog tretmana psihoze s ranim početkom u svrhu prevencije težih simptoma i razvijene kliničke slike shizofrenije

Oboljeli od rijetkih bolesti kao vulnerabilni ispitanici u kliničkim studijama

Farmakoterapija rijetkih bolesti suočena je s brojnim etičkim dilemama. Najveći broj oboljelih su djeca, oboljenja su progresivnog tijeka, a liječenje vrlo skupo. Cilj rada bio je ispitati u kojoj mjeri se poštuju principi suvremene bioetike, kada je u pitanju farmakoterapija rijetkih bolesti. Za primjer je uzeta Gaucherova bolest. Pretraživali smo dostupne baze podataka (Cochrane database, MEDLINE i Google) za period od 1996. do 2011. Ključne riječi bile su: Gaucherova bolest, etika/etička pitanja i klinička ispitivanja, a posebno su analizirani učinkovitost, sigurnost i cijena lijekova za ovu bolest. Provedena je i pilot anketa o stavovima liječnika i kliničkih farmaceuta o farmakoterapiji rijetkih bolesti u Srbiji na odabranom uzorku ispitanika (N = 11, Klinika za internu medicinu i Centralna apoteka, KBC „Bežanijska Kosa“ u Beogradu). Na postavljena pitanja odgovoreno je u 97,2 % slučajeva. Uočeni su brojni problemi vezani uz liječenje Gaucherove bolesti: npr. visoka cijena lijekova, nedostatak adekvatne procjene odnosa cijene i učinkovitosti terapije, nedovoljan broj ispitanika u kliničkim studijama i dr. Pilot anketa o rijetkim bolestima ukazuje na nedovoljnu informiranost stručne javnosti (21 %) i komplicirane procedure oko nabave lijekova (21 %). Većina ispitanika (64 %) ocijenila je da je nedovoljno upoznata s postojećom zakonskom regulativom o rijetkim bolestima. Oboljeli od rijetkih bolesti mogu se smatrati vulnerabilnim ispitanicima. Potrebno je formirati registar oboljelih, poboljšati informiranost stručne i šire javnosti i prilagoditi zakonsku regulativu kada su u pitanju rijetke bolesti

Oboljeli od rijetkih bolesti kao vulnerabilni ispitanici u kliničkim studijama

Farmakoterapija rijetkih bolesti suočena je s brojnim etičkim dilemama. Najveći broj oboljelih su djeca, oboljenja su progresivnog tijeka, a liječenje vrlo skupo. Cilj rada bio je ispitati u kojoj mjeri se poštuju principi suvremene bioetike, kada je u pitanju farmakoterapija rijetkih bolesti. Za primjer je uzeta Gaucherova bolest. Pretraživali smo dostupne baze podataka (Cochrane database, MEDLINE i Google) za period od 1996. do 2011. Ključne riječi bile su: Gaucherova bolest, etika/etička pitanja i klinička ispitivanja, a posebno su analizirani učinkovitost, sigurnost i cijena lijekova za ovu bolest. Provedena je i pilot anketa o stavovima liječnika i kliničkih farmaceuta o farmakoterapiji rijetkih bolesti u Srbiji na odabranom uzorku ispitanika (N = 11, Klinika za internu medicinu i Centralna apoteka, KBC „Bežanijska Kosa“ u Beogradu). Na postavljena pitanja odgovoreno je u 97,2 % slučajeva. Uočeni su brojni problemi vezani uz liječenje Gaucherove bolesti: npr. visoka cijena lijekova, nedostatak adekvatne procjene odnosa cijene i učinkovitosti terapije, nedovoljan broj ispitanika u kliničkim studijama i dr. Pilot anketa o rijetkim bolestima ukazuje na nedovoljnu informiranost stručne javnosti (21 %) i komplicirane procedure oko nabave lijekova (21 %). Većina ispitanika (64 %) ocijenila je da je nedovoljno upoznata s postojećom zakonskom regulativom o rijetkim bolestima. Oboljeli od rijetkih bolesti mogu se smatrati vulnerabilnim ispitanicima. Potrebno je formirati registar oboljelih, poboljšati informiranost stručne i šire javnosti i prilagoditi zakonsku regulativu kada su u pitanju rijetke bolesti

Pharmacotherapy of Rare Diseases in Serbia: The Current State of Art

Rare diseases affect less than 1 in 2000 or 5 in 10,000 people by definition. Most of those diseases have genetic basis (80% of cases) and first symptoms appear in early childhood (50% of cases). Most of these diseases are chronic and degenerative and pharmacotherapy is not available for many of them. Until today, there are more than 7000 rare diseases. In Serbia, the problem of diagnosis and pharmacotherapy of rare diseases is currently under public scrutiny. Patients who suffer from rare diseases in Serbia face many challenges in terms of awareness, timely diagnosis, and adequate treatment. These people are often misdiagnosed or the diagnosis is delayed due to several problems: lack of awareness among medical professionals, lack of expertise, unavailability and/or high costs of diagnostic tests, etc. According to the National Organization of Patients with Rare Diseases in Serbia (NORBS), many diagnostic procedures have to be conducted abroad and the process comprises many difficulties: high costs, travel expenses, or transportation of biological material. Although national legislation ensures the availability of drugs for those diseases, pharmacotherapy is faced with many problems. In this work, we aim to show that improvement of the knowledge regarding rare diseases among both professionals and patients represents a crucial step for enhancement of perspectives for those patients in our community

High-dose streptokinase in the treatment of acute massive pulmonary embolism complicated with cardiogenic shock, respiratory arrest and ventricular fibrillation

Background. Despite advances in prophylaxis, diagnostic modalities, and therapeutic options, pulmonary embolism remains a commonly undiagnosed entity with lethal outcome. Clinically, pulmonary embolism ranges from massive thromboembolism with cardiogenic shock to asymptomatic, microebolism with anatomically small emboli without hemodynamic, respiratory or other disturbances. Case report. A patient with massive pulmonary embolism complicated with ventricular fibrillation, respiratory arrest and cardiogenic shock was treated with a total dose of 3 750 000 IU of intravenous streptokinase in the 8- hour time period. After successful cardiopulmonary resuscitation, and thrombolytic therapy, the patient regained hemodynamic stability six hours after admission; all clinical and electrocardiographic signs of the right ventricle insufficiency disappeared. Conclusion. This case report suggested that treatment with the high-dose of streptokinase could be beneficial in the patients with massive pulmonary embolism complicated with cardiogenic shock, which must be confirmed by further randomized trials

Prenatal diagnosis of lissencephaly: A case report

Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI) after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly

The Efficacy and Safety of Antipsychotic Medications in the Treatment of Psychosis in Patients with Parkinson’s Disease

Psychotic symptoms are present in up to 50% of patients with Parkinson’s disease. These symptoms have detrimental effects on patients’ and caregivers’ quality of life and may predict mortality. The pathogenesis of psychotic symptoms in Parkinson’s disease is complex, but the use of dopaminergic medications is one of the risk factors. The treatment of psychotic symptoms in Parkinson’s disease is complicated due to the ability of antipsychotic medications to worsen motor symptoms. The efficacy of clozapine in the treatment of psychosis in patients with Parkinson’s disease has been confirmed in several clinical trials; however, the adverse effects and the necessity of blood count monitoring are the reasons why the use of this drug is challenging. The studies on safety and efficacy of other antipsychotics conflicting results. The use of antipsychotics in these patients is also associated with increased mortality. Psychotic symptoms in Parkinson’s disease per se are also proven predictors of mortality. Thus it is necessary to treat psychotic symptoms but the choice of an antipsychotic should be based on careful risk/benefit assessment. Pimavanserin as a novel therapeutic option with more favorable adverse effects profile is now available for this indication, but careful postmarketing monitoring is necessary to establish the true picture of this drug’s long-term safety and efficacy

Lithium – pharmacological and toxicological aspects: the current state of the art

Abstract: Lithium is the smallest monovalent cation with many different biological effects. Although lithium is present in the pharmacotherapy of psychiatric illnesses for decades, its precise mechanism of action is still not clarified. Today lithium represents first-line therapy for bipolar disorders (because it possesses both antimanic and antidepressant properties) and the adjunctive treatment for major depression (due to its antisuicidal effects). Beside, lithium showed some protective effects in neurological diseases including acute neural injury, chronic degenerative conditions, Alzheimer's disease as well as in treating leucopenia, hepatitis and some renal diseases. Recent evidence suggested that lithium also possesses some anticancer properties due to its inhibition of glycogen synthase kinase 3 beta (GSK3β) which is included in the regulation of a lot of important cellular processes such as: glycogen metabolism, inflammation, immunomodulation, apoptosis, tissue injury, regeneration etc. Although recent evidence suggested a potential utility of lithium in different conditions, its broader use in clinical practice still trails. The reason for this is a narrow therapeutic index of lithium, numerous toxic effects in various organ systems and some clinically relevant interactions with other drugs. Additionally, it is necessary to perform more preclinical as well as clinical studies in order to a precise therapeutic range of lithium, as well as its detailed mechanism of action. The aim of this review is to summarize the current knowledge concerning the pharmacological and toxicological effects of lithium