Faculty of Medicine

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Author: search.filters.author.Doksimovski, FilipLanguage: search.filters.language.English

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    COMPLICATED TUBERCULOSIS IN A 13-YEAR-OLD CHILD WITH DOWN SYNDROME: A CASE REPORT
    (Macedonian Association of Anatomists and Morphologists, 2023-11-05)
    Nestorov, Hristijan
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    Doksimovski, Filip
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    Chakalaroska, Irena
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    Ivanovska, Julija
    Tuberculosis (TB) is the most common cause of infectious disease-related mortality worldwide. Most persons infected won’t develop active disease, but in certain instances such as extremes of age or defects in cell-mediated immune response, TB may develop. Down syndrome (DS) is the most common neurodevelopmental disorder of know genetic causeand described simply as arising from an extra copy of chromosome 21, presenting with characteristic features. Due to immune defects, DS suffer more frequently from respiratory tract infections than normal children.We present a case of a 13yearsold child with Down Syndrome who was diagnosed with lung tuberculosis, after a right sided lobectomy due to a lung abscess.The child was hospitalized, following a period of one and a half month with fever and vomiting that did not improve with therapy. Investigations were made, including CT scan on the lungs. Due to right sided empyema and abscess on the right upper lobe, right sided lobectomy was preformed. The postsurgical pathohistological findings were in addition to pulmonary tuberculosis. Four drug antituberculosis regimenwas started. The four-drugcourse was given for two months, and then a two-drugregime was continued. To this day the child is on the sixth month of the two-drugantituberculosis regime. CT scans, regular Chest X-rays and ultrasoundof the lungs were made, with gradual improvement.In Down syndrome patients who have a complicated pneumonia that doesn’t respond to standard treatment, a tuberculosis disease should be considered.
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    Alström Syndrome with Early Vision and Hearing Impairement
    (Walter de Gruyter GmbH / Macedonian Academy of Sciences and Arts, 2022-07-13)
    Beqiri-Jashari, Ardiana
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    Janchevska, Aleksandra
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    Doksimovski, Filip
    ;
    Cipanovska, Marija
    Alström syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here we report on a 12 year old boy referred to the University Clinic with early signs of impaired hearing and vision, obesity, and scoliosis. Central vision was first affected, followed by peripheral vision. In addition, his weight began increasing after the age of two years, reaching 78 kg at a height of 157 cm (BMI 31.64). No polydactyly was present. His mental development was normal in spite of his hearing and vision impairments. There was acanthosis nigricans on the neck. ECG and the cardiac ultrasound were normal. At the age of 12 years, his testicles are 12 ml and his pubertal status is P2 A2. OGTT revealed impaired glucose tolerance with elevated insulin concentrations 121ulU/mL (reference range 2,00-29,1 ulU/mL). Renal function was unaffected, liver functions were normal. Uric acid and lipids were within normal plasma concentrations. A Whole Exome Sequencing was performed and a homozygous ALMS1 pathogenic, frameshift gene variant (LRG_741t1(ALMS1):c.4156dup; p.Thr1386AsnfsTer15) was determined as the cause of the disease. Both parents were carriers for the variant. The absence of mental retardation and polydactyly differentiates Alström and Bardet-Biedle syndrome.
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    EPIDEMIOLOGY, TREATMENT, AND COMPLICATIONS OF CROUP SYNDROME IN CHILDREN
    (Macedonian Association of Anatomists and Morphologists, 2020)
    Gjinovska Tasevska, Elena
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    Doksimovski, Filip
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    Tasevska Rajkovikj, Аna
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    Petlichkovska, Sandra
    Introduction: Croup syndrome is an urgent pediatric condition. It is characterized by the abrupt onset, most commonly at night, of a barking cough, that is usually accompanied by inspiratory stridor, hoarseness and respiratory distress resulting from upper-airway obstruction. This is the most common reason why parents are upset and immediately seek medical help. Objective: This study aimed to evaluate the frequency, treatment, and possible complications of croup syndrome in children hospitalized at our institute. Materials and methods: In our retrospective study we examined 56 pediatric cases with croup syndrome that were hospitalized in our Institute and we analyzed gender and age, the season in which we had the most frequent hospitalizations of children with croup syndrome, as well as treatment and possible complications after completion of croup symptoms. Period of examination was one year. Results: Mean age at diagnosis of children with croup was 26,5 ±2.6 months (range from 45 days to 8 years). As well the world statistics we got a larger number of hospitalized boys with croup syndrome, rather than girls (ratio 2,3:1). Regarding the period of the year, the autumn period was dominant. As far as the treatment, we noticed significant number of children with moderate to severe croup syndrome that required in-patient care. All of them received nebulized adrenalin as well as parenteral corticosteroid. The average duration of the hospitalizations that occurred in our unit for close monitoring and semi-intensive care was 5 days (1-14d). Antibiotics were used in 71% (n=40). Most common comorbidity was pneumonia and bronchopneumonia (14,2%, n=8). None of the children was of need of intubation and referral to intensive care unit. Conclusion: Our one-year research has documented considerable number of children with the necessary hospitalization, as many as 10% of hospitalized children in our Institute were due to moderate to severe croup syndrome. The sex, the age of the children as well as the season are most often in line with world statistics. We are noticing high percent of hospitalized patients with moderate croup. There is evident discrepancy between the use of antibiotics and its duration in our practice in comparison with other reports. These observations lead to reassessment of the hospitalization criteria as well as more rational use of antibiotics.