Papers by Vanja Bašić Kes
Int. Journal of Clinical Pharmacology and Therapeutics, 2009
-Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resul... more -Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, α-galactosidase A (α-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. The incidence has been estimated to 1 per 40,000-60,000 males and 1 per 117,000 in the general population. Symptoms usually occur during childhood or adolescence, occasionally in middle age (according to the level of the enzyme activity). Life-threatening complications often develop in untreated patients. In classic Fabry disease, they include cutaneous, renal, cardiac and cerebrovascular manifestations that lead to premature death. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 levels in the blood, urine and skin biopsies, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy initiation prior to significant disease manifestations or complications may improve patient outcome.
Acta Clinica Croatica, 2016
Multiple sclerosis (MS) is one of the most common diseases of the central nervous system and usua... more Multiple sclerosis (MS) is one of the most common diseases of the central nervous system and usually occurs at the age when people would be expected to be in the prime of their sexual lives. In everyday practice, sexual dysfunction is underestimated because clinicians mostly concentrate on the classic neurologic defi cits and often overlook symptoms that can seriously aff ect the quality of life. Our study included 98 patients (42 men and 56 women, mean age 35±12 years) with relapse from our MS register, with established diagnosis of relapsing remitting multiple sclerosis according to McDonald criteria. Patients completed the questionnaires (Sexual Satisfaction Scale, SSS and Beck Depression Scale BDS), and underwent neurological assessment (Expanded Disability Status Scale, EDSS). All patients were in the group with EDSS 2 to 4 points (mobile patients). Th ere was no statistically signifi cant diff erence in BDS and SSS values according to EDSS score. Correlation coeffi cients were calculated (BDS and SSS) for men (p=0.42) and women (p=0.44), yielding positive correlation. Th ere was no statistically signifi cant diff erence in BDS and SSS values according to gender, disease duration or immunomodulatory therapy. In our group of patients, despite low EDSS score (fully ambulatory without aid, self suffi cient patients) we found positive correlation between sexual dysfunction and depression, showing that even in such patients the quality of life can be decreased. In conclusion, sexual dysfunction and depression are mostly under-recognized by neurologists because they are not part of routine testing; therefore, some additional questionnaires should be used in the evaluation in MS patients, even those with low EDSS score, in order to improve their quality of life.
30th Annual Meeting North American Skull Base Society, 2020
-Th is case report presents a patient diagnosed with Tolosa-Hunt syndrome (THS) after an extensiv... more -Th is case report presents a patient diagnosed with Tolosa-Hunt syndrome (THS) after an extensive neuro-diagnostic and neuroimaging evaluation. Diagnostic work-up included thorough physical and neurological examination, complete laboratory serum assessments, neuroendocrine and immunohistochemistry analysis, cerebrospinal fl uid analysis, neurophysiology assessment, ophthalmologist examination and neuroimaging. Th e most important diagnostic tool in deriving the diagnosis of THS was neuroimaging evaluation that included baseline and follow-up cranial contrast enhanced magnetic resonance imaging (MRI). Baseline cranial contrast enhanced MRI detected a nonspecifi c infl ammatory granulomatous lesion in the right cavernous sinus extending basally towards the right trigeminal cave (Meckel's cave) and anteriorly towards the apex of the right orbit. Systemic intravenous high-dose corticosteroid therapy was administered for 3 consecutive days and then tapered down to lower oral steroid doses. Following therapy, the patient experienced complete regression of symptoms. Follow-up cranial contrast enhanced MRI showed signifi cant regression of infl ammatory lesion in the area of right cavernous sinus, thus verifying the effi cacy of the treatment applied. Th is paper shows that an extensive diagnostic schedule for THS must be conducted prior to therapeutic treatment, for the possibility of alternative diagnosis. Patients suspected of having THS require careful evaluation, appropriate treatment, and follow-up.
Periodicum Biologorum, 2013
Background and purpose. The purpose was to evaluate an accurate method of differentiating between... more Background and purpose. The purpose was to evaluate an accurate method of differentiating between temporomandibular joint (TMJ) disorder and trigeminal neuralgia (TN) in the sample of patients from a subspecialist dental practice. Patients and methods. Patients (n=239, mean age 39.3 years, 83.3% female) were examined for clinical symptoms and signs of orofacial pain of non-dental origin. The study included 12 female patients (group G-1 ; mean age 60.3 years) with determined co-morbidity of TMJ disorder and TN, and 17 patients (group G-2 ; mean age 53.8 years, 64.7% female) with only TN confirmed and the TMJ disorder ruled out. The TMJ diagnosis by means of magnetic resonance imaging (MRI) was confirmed. Pain intensity was rated on a visual- analogue scale (VAS with range 0-10) and maximal mouth opening capacity (mm) measured by gauge. Results. TMJ pain on the VAS scale for G-1 patients amounted to 6.91. TN related pain symptoms on the VAS scale for G-1 patients amounted to 9.0±1.6 a...
Anderson-Fabryjeva bolest (AFB) je X-vezan poremećaj nakupljanja supstrata u lizosomima uzrokovan... more Anderson-Fabryjeva bolest (AFB) je X-vezan poremećaj nakupljanja supstrata u lizosomima uzrokovan mutacijama gena za galaktozidazu (GLA). Znatno smanjena ili odsutna aktivnost enzima α-galaktozidaza A (α-Gal A) rezultira progresivnim nakupljanjem glikolipida, prije svega globotriaosilceramida (Gb3) u cirkulaciji i brojnim stanicama, tkivima i organima, posljedica je višestruko zatajivanje organskih sustava. Bolesnici s tim genetskim poremećajem imaju veliki rizik od razvoja neuropatije malih vlakana, uglavnom ishemijskog moždanog udara, kronične bolesti bubrega, fibrotske srčane bolesti što rezultira poremećajima srčanog ritma i provođenja, kao i progresivnom hipertrofičnom kardiomiopatijom. Iako je AFB povezan s X-kromosomom, obolijevaju osobe oba spola. Dijagnoza AFB-a zahtijeva odlično poznavanje te bolesti i vrlo osnovanu kliničku sumnju, dobar detaljan fizikalni pregled, laboratorijske i slikovne preglede za pojedine organe, a potvrđuje se nalazom bitno smanjene aktivnosti enzima α-Gal A homozigotnih muškaraca i tipizacijom gena u heterozigotnih žena. Enzimska nadomjesna terapija (ENT), oralna terapija šapronom i ciljano liječenje poremećaja pojedinih organskih sustava može dovesti do bitnog kliničkog poboljšanja. Međutim, u današnjoj medicinskoj literaturi možemo naći podatke o liječenju (ENT-om, šapronom, simptomatska terapija) bolesnika s uznapredovalim AFB-om, što znači da je već došlo do značajnog oštećenja organa. Uspjeh u liječenju bolesnika s AFB-om ovisi o personaliziranom pristupu skrbi za bolesnika (odražava fenotip genetske bolesti), sveobuhvatnoj procjeni oštećenja organa prije početka liječenja s ENT-om ili šapronom, odgovor na terapiju, kao i temeljitu prosudbu možebitnih oštećenja organa asimptomskih bolesnika. Bolesnike treba istovremeno liječiti zbog organ-specifičnih oštećenja (živčani sustav, srce, bubrezi, probava i dr.). Budući da je AFB multisistemska bolest, skrb o pacijentima treba povjeriti iskusnom multidisciplinskom timu. Nakon početne procjene bolesti, učestalost kontrolnih pregleda ovisi o kliničkoj slici i stupnju zahvaćenosti pojedinih organskih sustava. Početnu procjenu bolesti treba obaviti za oba spola. U žena s potvrđenom dijagnozom potrebno je utvrditi stupanj zahvaćenosti pojedinih organa. Kontrolni pregled žena koje nemaju simptome bolesti treba obaviti svake 2 godine (starenjem bolesnica povećava se učestalost kontrola), dok žene s izraženim simptomima treba, kao i muškarce s AFB-om, kontrolirati svakih 6 mjeseci. Unatoč značajnom napretku u liječenju i skrbi za bolesnike s AFB-om potrebno je dodatno pojasniti patofiziologiju bolesti i odrediti idealni trenutak za početak liječenja bolesnika različitih fenotipova. Treba uložiti dodatne napore u razvijanju učinkovitijih specifičnih lijekova. Ključne riječi: α-galaktozidaza A, Anderson-Fabryjeva bolest, šaperonska terapija, dijagnoza, nadomjesna enzimska terapija, praćenje, globotriaosilceramid, multisistemski poremećaji Adresa za dopisivanje: Prof. dr. sc. Vanja Bašić Kes, dr. med.
Summary Multiple sclerosis (MS) is a disease of the central nervous system (CNS), beginning most ... more Summary Multiple sclerosis (MS) is a disease of the central nervous system (CNS), beginning most often in late adolescence and early adult life and expressing itself by reccurrent attacks of spinal cord, brainstem, cerebellar, optic nerve and cerebral dysfunction, the result of foci of destrucion of myelinated fibers. Neuropathic pain, such as trigeminal neuralgia might be one of the first symptoms of multiple sclerosis. In this retrospective study we evaluated 290 patients who have been hospitalised at Department of neurology in last three years. According to the results of our study 70% had either an acute or chronic pain syndrome at some time during their disease. Between them 2.7% with acute pain syndroms had episodes of paroxismal pain attacks in distribution of trigeminal nerve. Chronic pain syndromes, occured in 58% of patients and included headache (25%), low back pain (35%) and painful leg spasms in 20% of patients. Our patients were treated with nesteroid antireumatic drug...
Acta Clinica Croatica, 2014
-Vascular dementia is caused by progressive atherosclerosis leading to multiple small strokes and... more -Vascular dementia is caused by progressive atherosclerosis leading to multiple small strokes and subsequent brain damage. Approximately 10%-20% of all cases of dementia are attributed to vascular dementia. The 5-year survival rate is 39% for patients with vascular dementia compared with 75% for age-matched controls. It is a growing public health concern because of the lack of effective curative treatment options and rising global prevalence. Duration of diabetes mellitus of 10 years or longer, onset of diabetes before age 65, treatment with insulin and oral antidiabetic medications, and presence of diabetes complications have an impact on the incidence of vascular dementia. On the other hand, patients who suffered stroke either had or are later diagnosed with diabetes (16%-24%). Treatment of vascular dementia in diabetes patients rests on a two-pronged approach: modification of the underlying disease and prevention and treatment of dementia symptoms.
Acta Clinica Croatica, 2019
Acute optic neuritis has the age and sex adjusted incidence of 1-5/100,000 in general population.... more Acute optic neuritis has the age and sex adjusted incidence of 1-5/100,000 in general population. It is mostly a disorder affecting young Caucasian women (31-32 years). Patients present to a wide range of clinicians including general practitioner, emergency physician, ophthalmologist, neurologist, etc. There are two main clinical presentations of optic neuritis, typical and atypical. It is of great importance to distinguish these two types of optic neuritis in order to detect the underlying etiology and plan appropriate and timely treatment. We present a young female patient (36 years) admitted to Department of Ophthalmology due to visual loss on the left eye. Magnetic resonance imaging showed demyelinating lesions in frontal and parietal lobe, periventricularly, in mesencephalon and right cerebellar hemisphere, and left optic neuritis; magnetic resonance angiography was normal. The patient's history revealed renal dysfunction, hypothyroidism, and miscarriage in the 6 th month of pregnancy due to eclampsia, and Fabry disease in family (mother and two sisters). She was transferred to the Department of Neurology for further evaluation of the demyelinating disorder of the central nervous system. The patient received corticosteroid therapy (methylprednisolone 1 g) for 5 days with regression of visual disturbances on the left eye. After this acute treatment, the question of definitive diagnosis remained, along with further treatment of the underlying cause. Considering renal dysfunction, miscarriage, arterial hypertension, positive genetic and biochemical testing for Fabry disease in close relatives (mother), we suspected that she also had Fabry disease. She was tested and the results were positive. We concluded that optic neuritis was the first sign of Fabry disease in this case, reflecting acute atypical neuroinflammatory disease.
Acta Clinica Croatica, Sep 1, 2013
-Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (aft... more -Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
SUMMARY – Multiple sclerosis (MS) is a chronic demyelinating neurologic disorder that ma-inly aff... more SUMMARY – Multiple sclerosis (MS) is a chronic demyelinating neurologic disorder that ma-inly affects young individuals (aged 20 to 50 years). Approximately 85 % of patients experience an initial course with relapses and remissions (relapsing-remitting multiple sclerosis). Guidelines for the management of MS should be focused on three main areas: (a) the diagnosis of MS; (b) treatment of relapses; and (c) long-term preventive treatment including clinical follow up, dose adjustment, drug switch, control of therapeutic efficacy, and disease progression. Diagnosis should be established according to clinical and paraclinical criteria. Discussion on therapeutic recommendations is focu-sed on the disease-modifying agents in acute phases and drugs for long-term treatment and sympto-matic treatment. Differential diagnoses must be taken into account on making the diagnosis of MS. Therefore, diagnosis of MS should be established on clinical and radiological diagnostic criteria,
plementary and alternative medicine as a group of diverse medical and health care systems, practi... more plementary and alternative medicine as a group of diverse medical and health care systems, practices and products that are not generally considered part of conventional medicine. Multiple sclerosis (MS) is a chronic disabling disease of the central nervous system that affects people during early adulthood. In spite of many approved medications, the treatment options in MS are limited. Many people with MS explore complementary and alternative medicine (CAM) treatments to help control their MS and treat their symptoms. Surveys suggest that up to 70 % of people with MS have tried one or more CAM treatment for their MS. People with MS using CAM generally report deriving some benefit from therapies. The CAM therapies most frequently used include diet, omega-3 fatty acids and antioxidants. The therapies with highest potential among CAM therapies that warrant further investigation are low-fat diet, omega-3 fatty acids, lipoic acid, and vitamin D supplemen-tation as potential anti-inflammat...
Acta Stomatologica Croatica, 2020
Introduction Dental fear or dental phobia is caused by previous unpleasant dental experiences and... more Introduction Dental fear or dental phobia is caused by previous unpleasant dental experiences and pain. It can result in delaying or avoiding dental visits. Most often it leads to individuals avoiding visiting the dentist until physical pain completely impairs the quality of life. Objectives Transcutaneous electrical nerve stimulation (TENS) is a method of pain relief involving the use of a mild electrical current. The main aim of this study was to examine whether the TENS device affects the reduction of anxiety and fear during dental procedures. Material and Methods The study was conducted on a sample of 125 respondents, aged 9-14 years. Statistical significance of differences between pre- and post-treatment results on all applied measuring instruments was verified by the t-test for dependent samples. The calculation was performed for all respondents and individually for the three observed groups. The Children`s Fear Survey Schedule – Dental Subscale test was used to assess anxiety...
Ischemic stroke is not common in population of the young adult s but when they occur, clinical fe... more Ischemic stroke is not common in population of the young adult s but when they occur, clinical features and evaluation strategies are rather different from adult patients in the usual stroke age group (50 to 85 years). Large epidemiological studies based on hospital-based registries have demonstrated a broad spectrum of aetiologies and risk factors. There is general agreement that young adults have better chances of surviving a stroke than older individuals. However, the majority of survivors have emotional, social, or physical consequences that impair their quality of life. Therefore, it is of great importance to recognize young adults who are at increased risk for stroke and to reduce their risk factors as much as it is possible.
Person oriented medicine is characterized by a holistic approach in patient management that embra... more Person oriented medicine is characterized by a holistic approach in patient management that embraces physical, psychological, social and spiritual aspects of health and disease. it responds to the needs of patients and health care workers to form an effective therapeutic relationship based on trust, empathy, compassion and responsiveness to the individual needs of a patient. Person-oriented perspectives in neurology include active collaborative partnership between a physician and a patient, and intuitive perception, which has a neurobiological correlate in the human mirror neuron system, thus expressing a considerable impact on the quality of the physician's diagnostic and therapeutic activities. on the other hand, personalized approach in medicine implies integration of clinical information and personal genotyping. Personalized neurology provides genebased preclinical prediction of disease with improved risk assessment, early detection of disease and targeted intervention. The combination of personalized approach and clinical information accelerates the translation of genetic discoveries into clinical practice, which ultimately results in improved health care system. Person-oriented perspectives contribute significantly to the growing pluralism of medical science and provide a greater humanization of medicine, individualized treatment and autonomy during therapeutic processes.
Recently migraine has been associated with increased arterial stiffness, procoagulant state, incr... more Recently migraine has been associated with increased arterial stiffness, procoagulant state, increased incidence of cerebral white matter lesions (WML) and stroke. Our aim was to compare the characteristics of migraineurs to headache free controls regarding their functional carotid ultrasound parameters. Sixty patients (45 women) with migraine (mean age 40.42 ± 10.61 years) were compared with 45 controls (30 women) with no prior history of repeating headache (mean age 38.94 ± 5.46 years) using E-tracking software on Alpha 10 ultrasound platform. Student's t-test was used on statistical analysis with alpha < 0.05. All tested carotid vascular parameters were worse in patients with migraine including increased intima-media thickness, greater carotid diameter and carotid diameter change, as well as several arterial stiffness indices. Additionally, patients with migraine had greater incidence of homozygous mutations for procoagulant genes (MTHFR (C677T), PAI-1 and ACE I/D) than ex...
Acta Clinica Croatica, 2017
In a certain percentage of patients with craniocervical artery dissection, dissections aff ect mu... more In a certain percentage of patients with craniocervical artery dissection, dissections aff ect multiple arteries. Some investigators consider that the dissections diagnosed as multiple might have occurred sequentially within a short time frame. We describe an oligosymptomatic patient with bilateral progressive vertebral artery dissection. Careful history taking added new data on transient left arm weakens two months earlier, as a possibility of the earlier disease onset.
Acta Clinica Croatica, 2018
-Fabry disease is a rare X-linked inherited lysosomal storage disease aff ecting multiple organ s... more -Fabry disease is a rare X-linked inherited lysosomal storage disease aff ecting multiple organ systems, presenting in the central nervous system (CNS) as white matter lesions with underlying cerebral vasculopathy and autoinfl ammatory changes of the choroid plexus and leptomeninges. We present a young female patient (age 36 years) admitted to our department due to visual loss on the left eye. Magnetic resonance imaging (MRI) showed demyelinating lesions in the frontal and parietal lobe, periventricularly, in mesencephalon and right cerebellar hemisphere, and left optic neuritis; MR angiography was normal. Her medical history revealed renal dysfunction, hypothyroidism, and miscarriage in the 6 th month of pregnancy due to eclampsia and Fabry disease in the family (mother). Cerebrospinal fl uid analysis showed mild pleocytosis, normal blood brain barrier function and oligoclonal bands type 3. Visual evoked potentials showed prechiasmal dysfunction of the left optic nerve. Genetical testing for Fabry disease was positive (two heterozygous mutations), with decreased alpha galactosidase activity values and increased Lyso GB3 values. Th e patient received corticosteroid therapy (methylprednisolone) 1 g for 5 days, which led to regression of visual disturbances on the left eye. After this acute treatment, there was a question of defi nitive diagnosis and further treatment of the underlying cause. Considering renal dysfunction, miscarriage, arterial hypertension, positive genetic and biochemical testing for Fabry disease, as well as MRI fi ndings showing lesions in posterior circulation, we concluded that the patient probably had Fabry disease with autoinfl ammatory changes in the CNS and should be treated with enzyme replacement therapy. Still, there was a question of optic neuritis on the left eye and positive oligoclonal bands favoring the diagnosis of multiple sclerosis. Th erefore, further clinical and neuroradiological follow up was needed to distinguish multiple sclerosis and Fabry disease in this patient.
Acta Clinica Croatica, 2018
-Th e purpose was to evaluate dental caries experience in diff erent male subpopulations of Croat... more -Th e purpose was to evaluate dental caries experience in diff erent male subpopulations of Croatian Army recruits and dental students, and subsequently, smoking habits related to the level of education and place of residence. Croatian army recruits (n=248; mean age 20.2) and male dental students (n=56; mean age 21.5) were evaluated according to DMFT and FST indices, divided according to age and place of residence, and interviewed about their dietary habits and smoking of tobacco. In the subpopulation of recruits, the median value of DMFT was 6 and of FST index 25. A statistically signifi cant diff erence was recorded between DT and FST index (p<0.05) according to dietary role of carbohydrates refl ected in caries development. Th e number of recruits with fi nished elementary school coming from a rural area who smoked (in total 57.66% of smokers) was significantly larger (p=0.0041). In dental students, the median value of DMFT was 5, with statistical signifi cance in comparison with recruits (p=0.03). Th ere was a diff erence in FST index (median 28) (p<0.0001). Students were mostly nonsmokers (71.43%) and had urban residence (p<0.0001). FST index was a more specifi c indicator in the socioeconomically heterogeneous sample of recruits (more subjects coming from rural areas and with a lower level of education) than in the sample of dental students (more subjects coming from urban areas).
Acta Neuropsychiatrica, 2009
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Papers by Vanja Bašić Kes