Emergencies in movement disorders

Movement disorders constitute a large group of diseases that affect the control of voluntary motor activity without a direct impact on sensation and strength. Usual clinical course is slow, progressive and can be treated in an outpatient clinic. However, there are several emergencies regarding movement disorders that are serious medical conditions and may result in death if not recognized and treated promptly. Every neurologist should be aware of these states because they can develop during the course of a patient’s illness. The aim of this review is to provide key features of the most common emergen- cies in movement disorders, including drug-induced emergencies, emergencies in Parkinson’s disease, chorea and ballismus, tics, myoclonus and dystonia

CAUSES OF INCOMPETENCE OF DRIVERS IN PRIMORJE-GORSKI KOTAR COUNTY DURING THE 1996-2016 PERIOD

Cilj: Cilj istraživanja jest utvrditi bolesti i srodna zdravstvena stanja kandidata za vozače, vozače amatere i profesionalce koji su bili uzrokom nesposobnosti vozača u Primorsko-goranskoj županiji u razdoblju od 1996. do 2016. godine pregledanih u privatnoj Zdravstvenoj ustanovi za medicinu rada. Ispitanici i metode rada: Ukupno je bilo pregledano 39.503 vozača, dok je istraživanjem obuhvaćeno 188 nesposobnih vozača od čega je bilo 175 vozača amatera i 13 vozača profesionalaca. Među vozačima amaterima bilo je 153 vozača muškaraca i 22 žene. Među vozačima profesionalcima bili su samo muškarci. Podatci o vozačima dobiveni su analizom bolesti iz kartona vozača koji se čuvaju u zdravstvenoj ustanovi. Bolesti su prikazane prema Međunarodnoj klasifikaciji bolesti i srodnih zdravstvenih problema – 10. revizija (MKB-10). Dijagnosticirane bolesti usklađene su prema pravilnicima o zdravstvenim pregledima vozača i kandidata za vozače. Rezultati: Nesposobni vozači (n=188) prikazani su prema dobnim skupinama, spolu, zanimanjima, dijagnozama bolesti i najčešćim bolestima. Jedan vozač ocijenjen je temeljem ocjene radne sposobnosti za posao. Najčešće bolesti koje su bile uzrokom nesposobnosti u vozača amatera su psihijatrijske bolesti (mentalna retardacija, demencije, alkoholizam, štetna uporaba psihoaktivnih tvari i druge) i čine 68 % svih nesposobnih, a slijede bolesti oka, 14,8 % svih nesposobnih vozača. Kod profesionalnih vozača najčešći uzroci nesposobnosti bili su bolesti oka i alkoholizam. Zaključak: U našem istraživanju najviše nesposobnih vozača amatera bilo je u skupini umirovljenika. U odnosu na vrste pregleda najveći broj nesposobnih bio je u dobnim skupinama od 18 do 57 godina, dakle u radno sposobnoj populaciji. Najčešći uzrok nesposobnosti vozača bile su psihijatrijske bolesti, među njima mentalna retardacija, alkoholizam, demencije i štetna uporaba psihoaktivnih tvari, kao i bolesti oka. Od neuroloških bolesti uzrok su bili epilepsija i posljedice cerebrovaskularne bolesti. Kod profesionalnih vozača uzrok nesposobnosti bile su bolesti oka i alkoholizam.Objective: The aim of the study was to identify diseases and related health conditions of the candidates for drivers, amateur drivers and professionals, and causes of their incompetence for drivers in the Primorje-Gorski Kotar County during the 1996-2016 period, examined in a private health care facility. Patients and Methods: A total of 39,503 drivers were surveyed, while 188 incapable drivers were covered, of which 175 amateur drivers and 13 professional drivers were surveyed. Among amateur drivers, there were 153 men and 22 women. Among professional drivers, there were only men. Driver data were obtained by analyzing their medical records stored at a health facility. Diseases were described according to the International Classifi cation of Diseases and Related Health Problems, 10th Revision. Diagnosed diseases were aligned according to the Regulations on Driver and Driver Health Checks. Results: Incompetent drivers (n=188) were presented according to age groups, gender, occupation, disease diagnoses and most common diseases. One driver was assessed on the basis of the work-ability assessment. The most common diseases causing amateur driver inability were psychiatric disorders (mental retardation, dementia, alcoholism, abuse of psychoactive substances, and others), which accounted for 68% of all incompetent drivers, followed by eye diseases (14.8%). Among professional drivers, the most common causes of inability were eye diseases and alcoholism. Conclusion: In our study, most inactive amateur drivers were in the group of retired people. According to age, the largest number of incompetent drivers were in the 18 to 57 age groups, i.e. active population. The most common causes of driver inability were psychiatric illnesses, including mental retardation, alcoholism, dementia and abuse of psychoactive substances, followed by eye diseases. Of neurological diseases, the causes were epilepsy and cerebrovascular disease sequels. Among professional drivers, the leading causes of disability were eye disease and alcoholism

ANDERSON-FABRY NEPHROPATHY – CURRENT THERAPEUTIC OPTIONS AND FUTURE PERSPECTIVES

Anderson-Fabryjeva bolest uzrokovana je nedostatnom aktivnošću enzima α-galaktozidaze A što rezultira nakupljanjem glikosfi ngolipida u lizosomima stanica različitih organskih sustava. Bolest se nasljeđuje X-vezano te je zastupljena u oba spola, no u muškaraca, koji su hemizigoti za mutirani gen, simptomi se ispoljavaju ranije uz izraženiji fenotip. Nakupljanje u stanicama bubrega uzrokuje isprva reverzibilne, a potom i ireverzibilne patološke promjene u svim segmentima nefrona što dovodi do proteinurije i bubrežne disfunkcije s postepenom progresijom do terminalnog stadija bubrežnog zatajenja. U ovom radu osvrnuli smo se na trenutne terapijske mogućnosti u obliku intravenske enzimske nadomjesne terapije agalzidazom alfa i agalzidazom beta uz noviju peroralnu metodu liječenja molekularnim šaperonima. Razmotreni su trenutni dosezi istraživanja genske terapije ugradnjom funkcionalnog GLA gena u genom bolesnika, što je budućnost liječenja nasljednih bolesti. Pravovremeno prepoznavanje i liječenje Anderson-Fabryjeve bolesti značajno smanjuju mortalitet i morbiditet pacijenata te povećavaju njihovu kvalitetu života.Anderson-Fabry disease is a lysosomal storage disorder caused by insufficient α-galactosidase A enzyme activity. It is a hereditary X-linked disease that affects both men and women, although males express more typical symptoms at earlier age since they are hemizygotes for the mutated gene. Accumulation of glycosphingolipids in kidney cells has an impact on all nephron segments and causes proteinuria with progressive renal dysfunction, which can ultimately end in terminal renal failure. In this review of the literature, we present therapeutic options including intravenous enzyme replacement therapy with agalsidase alpha and agalsidase beta and oral treatment with molecular chaperons for patients with amenable mutations. Moreover, we investigated current progress in gene therapy of Fabry disease, which is an evolving field with promising results. Timely recognition and early start of treatment significantly reduces morbidity and mortality of patients with Fabry disease, leading to improved quality of life

KONTINUIRANO NADOMJEŠTANJE BUBREGA KOD STARIJIH BOLESNIKA S AKUTNOM OZLJEDOM BUBREGA

Acute kidney injury is one of the most intriguing challenges in medicine, as it is followed by high mortality rates despite the progress in understanding and treating the condition. Elderly patients form a particularly sensitive group, due to the complications that come with age and various comorbid conditions. The aim of the study was to analyse the outcome of patients on CRRT, specifi cally mortality, loss or recovery of kidney functions, along with parameters which could infl uence outcome and which could be improved during therapy for a better outcome. The study included all patients that were treated for acute kidney injury at the Clinical Hospital Centre Rijeka in the last 5 years. Total number of patients was 178, of which 64 were female, and 114 were male. Average age was 74,35 } 5,46 (65- 89). All analyzed patients were treated with continuous renal replacement therapy. Patients were divided into three groups in relation to the outcome (group that passed away, group with the loss and group with the recovery of kidney function). The most common indications for continuous renal replacement therapy were of cardiogenic (n=89, 50,0%) and infectious etiology (n=52, 29,2%). Mortality in patients with acute kidney injury that were treated with continuous renal replacement therapy in our study was 70,79% (n=126), while recovery of renal function occurred in 6,18% (n=11) of the patients. Permanent loss of renal function was more common than recovery, and it occurred in 23,03% (n=41) of the patients. Analysis of parameters revealed that initial creatinine levels, 24-hour diuresis, glomerular fi ltration, potassium levels and multiple organ failure can be predictors of acute kidney injury outcome in elderly patients.Akutna bubrežna ozljeda je jedan od intrigantnijih problema medicine, budući da je i dalje prati visok mortalitet unatoč napretku u liječenju i razumijevanju same bolest. Posebno osjetljivu skupinu čine stariji pacijenti, koji su zbog same dobi i svih komorbiditeta posebno ugroženi. Cilj studije bio je analizirati ishod pacijenata na CRRT-u, odnosno mortalitet, gubitak i oporavak bubrežne funkcije, kao i parametre koji bi potencijalno mogli upućivati na mogući ishod, no na koje bi se ujedno moglo i utjecati u svrhu boljeg preživljenja. U ispitivanju su sudjelovali pacijenti oboljeli od ABO liječeni u Kliničkom bolničkom centru Rijeka u razdoblju od 5 g. Ukupan broj ispitanika bio je 178, od toga 64 osoba ženskog i 114 osobe muškog spola. Prosječna dob iznosila je 74,35 } 5,46 (65-89) godina. Svi analizirani pacijenti su se liječili kontinuiranim nadomještanjem bubrežne funkcije. Pacijenti su raspoređeni u tri skupine ovisno o ishodu bolesti, odnosno smrt, gubitak i oporavak bubrežne funkcije. Najčešće indikacije za primjenu kontinuiranog nadomještanja bubrežne funkcije bile su kardiogene etiologije (n=89, 50,0 %) te infektivne etiologije (n=52, 29,2 %). Mortalitet pacijenata oboljelih od ABO koji su bili na kontinuiranom nadomještanju bubrežne funkcije iznosi 70,79 % (n=126), dok se renalna funkcija oporavila u 6,18 % pacijenata (n=11), a 23,03 % pacijenata je moralo nastaviti jednom od metoda nadomještanja bubrežne funkcije (n=41). Analizom podataka dobiveno je da vrijednosti inicijalno mjerenog kreatinina, 24-satne diureze, glomerularne fi ltracije, kalija, kao i višestruko zatajenje organa, mogu biti jedan od prediktora ishoda ABO u starijih pacijenata

Neurorehabilitation in Parkinson’s disease after Deep Brain Stimulation surgery

Duboka mozgovna stimulacija (DBS) vodeća je kirurška metoda u liječenju bolesnika s uznapredovanom Parkinsonovom bolešću (PD). Neurorehabilitacijom nakon ugradnje DBS uređaja nastoji se oboljelima omogućiti normalno funkcioniranje u svakodnevnim interakcijama i aktivnostima te na taj način unaprijediti kvalitetu života. U procesu neurorehabilitacije sudjeluje multidisciplinarni tim koji čine neurolog, fizioterapeut i logoped. Uloga neurologa u ovome procesu je prilagođavanje parametara DBS uređaja te prilagodba farmakološke terapije. Uloga fizioterapeuta je održavanje i obnavljanje maksimalne funkcionalne pokretljivosti i sposobnosti, dok je uloga logopeda terapija poremećaja govora na koji DBS ima specifičan utjecaj.Deep brain stimulation (DBS) is the most common surgical treatment for patients with advanced Parkinson’s disease (PD). Following surgery, neurorehabilitation aims to help patients function properly in daily interactions and activities, and thus improve their quality of life. The neurorehabilitation process is overseen by a multidisciplinary team that includes a neurologist, physiotherapist, and speech therapist. The role of neurologist is to change the DBS device’s parameters as well as the pharmacological therapy. The role of the physiotherapist is to maintain and restore maximum functional mobility and ability, while the role of the speech therapist is to assist with speech issues on which DBS can have a significant impact

Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective

In this perspective article, we highlight the possible applicability of genetic testing in Parkinson’s disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory technique employing electrical stimulation, has historically targeted motor symptoms in advanced PD and dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants of DBS efficacy. Known PD genes such as GBA, SNCA, LRRK2, and PRKN are most studied, even though further studies are required to make firm conclusions. Variable outcomes depending on genotype is present in genetic dystonia, as DYT-TOR1A, NBIA/DYTPANK2, DYT-SCGE and X-linked dystonia-parkinsonism have demonstrated promising outcomes following GPi-DBS, while varying outcomes have been documented in DYT-THAP1. We present two clinical vignettes that illustrate the applicability of genetics in clinical practice, with one PD patient with compound GBA mutations and one GNAL dystonia patient. Integrating genetic testing into clinical practice is pivotal, particularly with advancements in next-generation sequencing. However, there is a clear need for further research, especially in rarer monogenic forms. Our perspective is that applying genetics in PD and dystonia is possible today, and despite challenges, it has the potential to refine patient selection and enhance treatment outcomes

The effects of microbiota abundance on symptom severity in Parkinson’s disease: A systematic review

IntroductionParkinson’s disease (PD) is neurodegenerative disease with a multifactorial etiopathogenesis with accumulating evidence identifying microbiota as a potential factor in the earliest, prodromal phases of the disease. Previous research has already shown a significant difference between gut microbiota composition in PD patients as opposed to healthy controls, with a growing number of studies correlating gut microbiota changes with the clinical presentation of the disease in later stages, through various motor and non-motor symptoms. Our aim in this systematic review is to compose and assess current knowledge in the field and determine if the findings could influence future clinical practice as well as therapy in PD.MethodsWe have conducted a systematic review according to PRISMA guidelines through MEDLINE and Embase databases, with studies being selected for inclusion via a set inclusion and exclusion criteria.Results20 studies were included in this systematic review according to the selected inclusion and exclusion criteria. The search yielded 18 case control studies, 1 case study, and 1 prospective case study with no controls. The total number of PD patients encompassed in the studies cited in this review is 1,511.ConclusionThe link between gut microbiota and neurodegeneration is a complex one and it depends on various factors. The relative abundance of various microbiota taxa in the gut has been consistently shown to have a correlation with motor and non-motor symptom severity. The answer could lie in the products of gut microbiota metabolism which have also been linked to PD. Further research is thus warranted in the field, with a focus on the metabolic function of gut microbiota in relation to motor and non-motor symptoms