Browsing by Author "Milenković, Sanja (57220419015)"

Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant. Patients homozygous for the common variant did not show significant clinical differences to the compound heterozygous patients. The clinical presentation of all patients was an adult onset distal myopathy with predominant lower limb involvement. In addition, most patients had normal to mildly elevated serum creatine kinase levels, myopathic electromyograms, normal cardiologic and respiratory tests and muscle pathology consistent with a dystrophic process. In this study, we describe a distinct phenotype for patients with distal myopathy associated with novel recessive TTN variants including a Serbian founder variant. Our results expand the phenotypic and genetic spectrum of titinopathies and will facilitate the diagnosis of this condition in patients of Serbian origin.

Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant. Patients homozygous for the common variant did not show significant clinical differences to the compound heterozygous patients. The clinical presentation of all patients was an adult onset distal myopathy with predominant lower limb involvement. In addition, most patients had normal to mildly elevated serum creatine kinase levels, myopathic electromyograms, normal cardiologic and respiratory tests and muscle pathology consistent with a dystrophic process. In this study, we describe a distinct phenotype for patients with distal myopathy associated with novel recessive TTN variants including a Serbian founder variant. Our results expand the phenotypic and genetic spectrum of titinopathies and will facilitate the diagnosis of this condition in patients of Serbian origin.

Introduction. Histopathological findings of various inclusions were reported in the central nervous system of amyotrophic lateral sclerosis (ALS) patients but not in the peripheral nerves. Case report. We present a 66-year-old man with lower limb weakness, with later development of weakness in the upper limbs and loss of sphincter control. Neurological examination showed the affection of both upper and lower motor neurons. He had paresthesia on the left side of his body and socks-distribution numbness. Histopathology of the sural nerve and genetic report showed basophilic periodic acid-Schiff (PAS)-positive intra-axonal inclusions and heterozygous L144F mutation in the exon 5 of the SOD1 gene. Conclusion. It seems that the presence of the basophilic peripheral nerve inclusions may suggest a diagnosis of SOD1-positive ALS. © 2023 Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.

Introduction: Internet use (IU) commonly refers to sedentary lifestyle and may be addictive, especially among children. The aim of this study was to investigate the relationship between IU and some aspects of child physical and psychosocial development. Methodology: We conducted a cross-sectional survey by using a screen-time based sedentary behavior questionnaire and Strengths and Difficulties Questionnaire (SDQ)—among 836 primary school children in the Braničevo District. The children’s medical records were analysed for vision problems and spinal deformities. Their body weight (BW) and height (BH) were measured and body mass index (BMI) was calculated as BW in kilograms divided by BH in meters squared (kg/m2). Results: The average age of respondents was 13.4 (SD 1.2) years. The mean duration of daily Internet use and sedentary behavior was 236 (SD 156) and 422 (SD 184) minutes, respectively. There was no significant correlation between daily IU and vision problems (near sightedness, farsightedness, astigmatism, strabismus), and spinal deformities. However, daily Internet use is significantly associated with obesity (p < 0.001) and sedentary behavior (p = 0.01). There was significant correlation between emotional symptoms with total Internet usage time, and total sedentary score (p < 0.001 for both, r = 0.141 and r = 0.132, respectively). There was a positive correlation between the total sedentary score of children and hyperactivity/inattention (r = 0.167, p < 0.001), emotional symptoms (r = 0.132, p < 0.001), and conduct problems (r = 0.084, p < 0.01). Conclusion: In our study, children’s Internet use was associated with obesity, psychological disturbances and social maladjustment. Copyright © 2023 Novaković, Milenković, Srećković, Backović, Ignjatović, Capo, Stojanović, Vukomanović, Sekulić, Gavrilović, Vuleta and Ignjatović.

[No abstract available]

It is well established that the multilayered structure of the vocal fold is highly adjusted to the requirements of the vibration process during phonation. There is also some partial data indicating that the spatial arrangement of each vocal fold layer corresponds to the functional requirements, and thus facilitate the phonation process. Nevertheless, all reports on the spatial arrangement of the vocal fold structures deal only with an individual element of the vocal fold histologic structure. The present study encompasses the spatial histologic analysis of all major elements of the vocal fold layers. It was demonstrated that the vocal fold epithelial cells, the connective and muscle fibers, and even the blood vessels run parallel to the vocal fold free edge, which indicates a high adjustment to the phonation requirements and the vibration process.

It is well established that the multilayered structure of the vocal fold is highly adjusted to the requirements of the vibration process during phonation. There is also some partial data indicating that the spatial arrangement of each vocal fold layer corresponds to the functional requirements, and thus facilitate the phonation process. Nevertheless, all reports on the spatial arrangement of the vocal fold structures deal only with an individual element of the vocal fold histologic structure. The present study encompasses the spatial histologic analysis of all major elements of the vocal fold layers. It was demonstrated that the vocal fold epithelial cells, the connective and muscle fibers, and even the blood vessels run parallel to the vocal fold free edge, which indicates a high adjustment to the phonation requirements and the vibration process.

This year Zemun Hospital – Clinical Hospital Center Zemun celebrates 230th anniversary of continuous work, thus becoming the oldest medical facility in Serbia. The exact date of the hospital founding has been often questioned in history. Various dates appeared in the literature, but the most frequent one was 25th of February 1784. Until now, the document which confirms this has never been published. This article represents the first official publication of the document which confirms that Zemun Hospital was indeed founded on this date. The first hospitals started emerging in Zemun when the town became a part of the Habsburg Monarchy. The first sanitary facility ever formed was the “Kontumac” – a quarantine established in 1730. Soon after, two more confessional hospitals were opened. The Serbian (Orthodox) Hospital was founded before 1769, whereas the German (Catholic) Hospital started working in 1758. Both hospitals were financed, amongst others, by the Town Hall – the Magistrate. In order to improve efficiency of these hospitals, a decision was made to merge them into a single City Hospital. It was founded on 25th February 1784, when the General Command ordered the Magistrate of Zemun to merge the financess of all existing hospitals and initiate the construction of a new building. Although financially united, the hospitals continued working in separate buildings over a certain period of time. The final, physical merging of these hospitals was completed in 1795. © 2014, Srp Arh Celok Lek. All rights reserved.

Introduction Intraductal papillary mucinous neoplasms (IPMN) are among the most common cystic neoplasms of the pancreas, but they represent only 1–3% of all exocrine pancreas tumors. With the development of diagnostic possibilities the number of patients with IPMN is constantly increasing and represents approximately 20% of all surgically treated pancreatic tumors. The development of laparoscopic surgery has led to advances in the treatment of cystic tumors of the pancreas with the emergence of new surgical dilemma in the choice of surgical techniques in patients with IPMN. Case Outline A 23-year-old patient was admitted to the hospital with non-specific symptoms of upper abdomen. Performed diagnostics indicated the existence of a tumor formation at the periphery of the pancreas, in the region of the proximal corpus, 8×5 cm in diameter. The cystic formation, wall thickness 3 mm, was filled with dense contents and injected into the tissue of the pancreas, but did not lead to an extension of the pancreatic duct. After adequate preoperative preparation the patient was operated on, when a laparoscopic enucleation of cystic tumor with coagulation and cutting off communication between the peripheral pancreatic duct and pancreatic tumors was performed by using ultrasound scissors. Histopathological analysis of the specimen indicated an IPMN of the branch duct type (BD-IPMN) with a low grade dysplasia. The line of resection was without cellular atypia. Immunohistochemical analysis showed positivity on tumor mucins (MUC-5 and MUC-2), which is typical for gastric type of BD-IPMN. Six months postoperatively the patient showed no signs of recurrence of the disease. Conclusion Surgical treatment is the dominant choice for the treatment for IPMN. Although minimally invasive, laparoscopic enucleation of BD-IPMN is able to achieve an adequate level of radicality without the accompanying complications and with short postoperative recovery period. © 2015, Serbia Medical Society.