Duma, Filip

Preferred name

Duma, Filip

Official Name

Duma, Filip

Main Affiliation

filip.duma@medf.ukim.edu.mk

Now showing 1 - 10 of 21

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Importance of 6 minute walk test in diagnostics of rare metabolic myophaty a case report
(Институт за јавно здравје на Република Македонија = Institute of public health of Republic of Macedonia, 2017-12)
Natalija Angelkova
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Elena Shukarova Angelkova
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Mirjana Kocova
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Vesna Sabolic
Diagnosisi of rare inherited neuromuscular disorders is sometimes delayed due to variations in time of onset, different clinical appearance and limited diagnostic possibilites. The manegement of patients starts with neurological examinations followed by specific laboratory tests and neurological assesement. In the era of molecular medicine, molecular biology tools are useful in avoding some of the the invasive investigation such as muscle biopsy.We present a boy with a mild form of metabolic myopathy due to carnitine palmitoyltransferase 2 deficiency diagnosed upon timed functional assesment.A child had delayed developmental milestones,associated with fatigue and muscle pain during exercising and longer walks.There were no episodes of myoglobrinuira during exercise or during febrile illnesses.Neurological examination reveed proximal muscle weakness.Serum creatine kinase (CK) and serum lactate were above normal limits.Serum acylcarnitine profile was normal.Short timed functional tests such as 10 meters walk/run test showed normal results.Nord Star Amublatory Assesment showed difficulties in balance and jumping.Diagnosis of myopathy was suspected after performance of 6-minute walk test, when the passed distance was 327 meters with slowing and fatigue.EMG and echocardiography were within normal range.Diagnosis was established by equencing of the CPT II gene which revealed c.338C>T (p.Ser113Leu) mutation in homozygous form as characteristic CPT II deficiency profile.
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Myopathic form of carnitine palmitoyltransferase II deficiency – Case report
(Elsevier BV, 2017-06)
Angelkova, N.
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Sukarova-Angelovska, E.
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Sabolic, V.
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EPILEPSY WITH HETEROZYGOUS ALDH7A1 AND SLC6A1 MUTATIONS
(SHMSHM - AAMD, 2020)
Alili Ademi, Learta
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Ademi, Blerim
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Muaremoska Kanzoska, Lejla
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ABSTRACT Epilepsy is one of the most common neurologic disorders, 75% of which begins during childhood. With the development of genetic technology, an increasing number of genes associated with epilepsy are identified. These discoveries will improve diagnosis and treatment of epilepsy and provide the basis for including genetic tests in clinical practice. We report cases of epilepsy in two sisters with heterozygous mutations in ALDH7A1 and SLC6A1 gene. Including genetic tests in the clinical practice and evaluating the results of genetic tests with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms of underlying epilepsy. The variant c.-17C>G, in 5-UTR of ALDH7A1 and c.1436G>A (p.Arg479Gln) in exon 14 of SLC6A1 gene are mutations classified as a mutations with unknown clinical meaning. The presence of variants with unknown clinical meaning should not be neglected and should not affect the clinical course and treatment.
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GENETIC TESTING ESSENTIAL IN EARLY DIAGNOSIS AND TREATMENT IN TUBEROUS SCLEROSIS COMPLEX
(Macedonian Association of Anatomists and Physiologists, 2021)
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Muaremoska Kanzoska Lejla
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Alili Ademi Learta
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Cilevska Mladenovska Sanja
Introduction: Tuberous sclerosis complex (TSC) is rare genetic neuro cutaneous disease. It is characterized by cutaneous changes and formation of hamartomas in multiple organs with consecutive, mostly neurologic conditions that lead to morbidity and mortality. The affected genes are TSC complex subunit 1 and TSC complex subunit 2, encoding hamartin and tuberin respectively. Failure in formation of TSC1:TSC2 complex is culminating in loss of tonic inhibition of the mechanistic target of rapamycin (mTOR) pathway that leads to deregulation of protein synthesis and cell growing. The mTOR inhibitors, rapamycin (sirolimus) and everolimus improve pulmonary function in patients with TSC and reduce the size of renal and brain lesions
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Туберозна склероза комплекс-приказ на случај
(Association of the Albanian Doctors from Macedonia, 2009)
Sabolic Asenova, Marija
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Sabolic Avramovska, Vesna
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Kuturec, Marija
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Lekovska, Olivera
Tuberous sclerosis (TSC) is rare, autosomal dominant, multi-system disorder (that couses benign tumours to grow in the brain and on other vital organs such as heart, eyes, kidney, lung and skin). TSC is manifested by seizures, developmental delay, behaviour problems, skin lesions, lung and kidney disease. Mutations of 2 genes TSCI and TSC2, have been determined as cause of TSC. The diagnosis of TSC is suspected at fetal ultrasound on the discovery of cardiac rhabdomyomas (CRs). CRs typically develop in utero and undergo spontaneous regression during first years of life. We reported one case with TSC with first ultrasound detection of cardiac rhabdomyomas. The pregnancy was continued and the child was developing well during first 6 months. When she was 6 month old, seizures started and were successfully treated with Valproic acid (VPA) and Vigabatrin (VGB). The diagnosis was confirmed with clinical manifestation, CT and MRI findings.
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GANGLIOMA ASSOCIATED WITH FOCAL EPILEPSY
(Македонско лекарско друштво = Macedonian medical association, 2020)
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Lejla Muaremoska Kanzoska
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Learta Adili Ademi
;
Matilda Stojanovska
Although rare, gangliomas represent the most common tumor entity in young patients suffering from focal epilepsy [1,2]. The current World Health Organization (WHO) classi- fication defines ganglioglioma (GG) as a neoplasm com- posed of neural (ganglion cells) and glial elements, with both components being neoplastic [3].Ganglioglioma accounts for 0.4% to 9% of primary brain tumors and has been described in all parts of the central nervous system, but most commonly comes to clinical attention when present in the cerebral hemispheres, particularly in the temporal lobe [4,5]. We present a 13-year-old boy with repetitive focal seizures. The implemented EEG revealed right focus ofspike-wave complexes. Contrast-enhancedmagnetic resonance showed findings of TU lesion in the right middle temporal lobe. The patient underwent tumor excision. Patohistological diagnosis of the resected tu- mor was ganglioglioma. Postoperatively, the patient wasseizure-free, but the control EEG wasthe same asthe first EEG. In patients with ganglioglioma the appropriate treatment strategy involves not only the complete surgical extir- pation of the tumor, but also relatively early surgical intervention, because such an approach provides maxi- mum chance of an epilepsy cure [6].
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CASE REPORT OF DOUBLE HETEROZYGOUS PATIENTC WITH SPINAL MUSCULAR ATROPHY
(Macedonian Association of Anatomists, 2023)
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Muaremoska-Kanzoska, Lejla
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Children with special needs review of public information at www as a parental guidance in choosing learning resources
(2018)
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Angelkova, Natalija
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Bojadzeva, Sonja
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West Nile Encephalitis
(2012)
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Bojnovska, T
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POST COVID-19 NEUROLOGICAL SYNDROME (PCNS) IN AN 11 YEARS OLD BOY,A CASE REPORT
(2021)
Learta Alili Ademi
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Blerim Ademi
By now more than 92.6[1] persons have been reported to be infected with COVID-19, of which significant part are children. Although children experience milder symptoms compared with adults at the time of the infection, cases of post-covid-19 complications have been reported (2, 3, 4, and 5). Complications might also include the CNS, in our case with cerebellar ataxia-like and polyneuritislike signs and symptoms. A 13 year old boy was presented in our clinic with signs of ataxia, occasional vomiting, impaired gait, impaired patellar reflexes on the right leg, incomplete Babinski reflex on the right leg, paresis of the left facial nerve and mild hypertension. Based on the clinical appearance and the parameters that showed past COVID-19 infection, a diagnosis of Post-COVID19 Cerebellar Ataxia-like and Polyneuritis-like was made, meaning a Post Covid-19 Neurological Syndrome (PCNS). Treatment was conducted with antibiotics and immunoglobulins resulting in significant improvement in the following days. There are few reported cases about neurological complications caused by COVID-19 in children and adolescents, without any other symptoms of the virus. This is one of the first cases of Post- COVID19 Cerebellar Ataxia and Polyneuritis in a child as a result of COVID-19 and the first case in our country.

Duma, Filip

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