БИОМЕДИЦИНСКА ИСТРАЖИВАЊА

A rare thyroid disorder mimicking mitochondrial disease

Adrijan Sarajlija, Sladjana Todorović, Biljana Alimpić, Maja Čehić — Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Patients affected with Allan-Herndon-Dudley syndrome
(AHDS) have a deficiency of monocarboxylate transporter 8 (MCT8), a
protein primarily responsible for the transport of triiodothyronine (T3)
into the brain. This X-linked disorder affects almost exclusively males with
clinical presentation encompassing developmental delay, axial hypotonia,
dystonia, poor head control, quadriplegia and absence of speech.
Case reports. Patient 1 is a male child referred to a hospital investigation
at 11 months due to severe developmental delay and elevated
blood ammonia level (163 mcmol/L). Hypotonia and dystonic movements
were noted at admission, with facial dysmorphic features. Laboratory
findings revealed increased blood lactate (17.2 mmol/L), alanine
(533 mcmol/L) and ammonia (391 mcmol/L) concentrations. Serum
creatine-kinase levels showed substantial increase over the course of
hospitalization up to 6,855 IU/L. Clinical exome sequencing detected
a novel hemizygous frameshift insertion c.1456insC in gene SLC16A2,
predicted to cause loss of normal protein function either through protein
truncation or nonsense-mediated mRNA decay. Segregation genetic
testing of the family members revealed that mother, maternal
uncle and maternal grandmother carry the same mutation in SLC16A2.
The boy`s mother experienced learning difficulties through childhood
while maternal uncle is severely affected by AHDS. Patient 2 is a boy
referred to clinical geneticist due to severe psychomotor delay of unknown
etiology. Moderate serum lactate elevation was the only laboratory
abnormality during initial investigations. Diagnosis of AHDS was
established by clinical exome sequencing, and subsequent hormonal
evaluation revealed increased triiodothyronine (T3) level which corresponds
well to genetic diagnosis.
Conclusion. Presence of lactic acidosis and/or hyperammonemia in
children with severe developmental delay is not specific for inborn disorders
of energy production, such as mitochondrial disease. Clinicians
should consider thyroid hormones profiling in cases of unexplained
severe developmental delay in male children, especially if associated
with axial hypotonia and dystonic movements.

Puberphonia: from classic to modern approach

Bojana Vuković, Sladjana Ćalasan — Tue, 14 Dec 2021 00:00:00 +0100

Voice is a significant component of communication that allows us to
express information and emotions, so it is the foundation of verbal
communication. Maturation of the body involves dilation of the larynx
and lower positioning of the larynx in the neck, resulting multiple
changes in voice quality. The rapid changes in the human larynx
during puberty are more evident in males. Such changes can result
in voice mutation – puberphonia. Puberphonia, also called mutational
dysphonia or mutational falsetto, is the failure of a natural decrease in
fundamental frequency or pitch. We can also defined puberphonia as
persistent adolescent voice even after puberty in the absence of organic
cause. This functional voice disorder can have multiple consequences
on the personality and quality of life of an individual that often
encounters problems that include psychological, emotional, social,
and professional difficulties. This article aims to review the relevant
and accessible literature on puberphonia in a comprehensive concise
manner, highlighting the etiology, prevalence, clinical manifestation,
consequences on quality of life, as well as evolution of the approach
and attitude to its treatment.

Late postoperative complications of arteriovenous fistula for hemodialysis

Zlatko Maksimović, Nenad Lalović, Siniša Maksimović — Tue, 14 Dec 2021 00:00:00 +0100

The vascular approach is a prerequisite for performing hemodialysis,
but their “weak points” are different and frequent complications. Modern
guidlines recommend native arteriovenous fistula (AVF) as the first
choice of vascular approach, because it is characterized by the longest
survival and the least complications compared to other vascular approaches.
All complications of AVF can be divided into intraoperative,
early, and late postoperative. This paper presents the late postoperative
complications of AVF, their frequency, causes, diagnosis and treatment.
The most important late postoperative complications are: stenosis,
thrombosis, aneurysm or pseudoaneurysm formation, infection, hand
edema, hematoma, ischemic steal syndrome, ischemic neuropathy,
congestive heart failure. Large differences in the frequency of each
complication in earlier studies can be explained by differences in surgical
technique, localization of AVF, diagnostic methods, but, above all,
differences between the presented groups of patients. It is described
that the age of patients, sex, underlying disease, the presence of comorbid
conditions and various metabolic and immune disorders characteristic
of chronic renal failure, as well as the way of using and caring
for AVF significantly affect the occurrence of AVF complications. One
of the main predictors of AVF success and survival is the quality of the
patients’ blood vessels, and therefore careful examination of blood
vessels before approaching AVF creation is of particular importance.
The creation, use and care of AVF is the task of the team of health professionals
who take part in the treatment of these patients, and successful
treatment requires their good cooperation, as well as cooperation
with patients.

Knowledge and frequency of contacts as factors in forming primary school children attitudes towards peers with developmental disabilities

Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Higher level of knowledge and frequent contacts with
peers with disabilities can influence the emergence of more positive
attitudes of students towards peers with disabilities. In regard to that,
our aim was to test the importance of knowledge, contact frequency
and other possible factors influencing attitudes of students toward
disabled peers.
Methods. The study included 140 students of 4th and 5th grade of
primary schools. The research was conducted in the period from December
2020 to March 2021 in two primary schools. The Chedoke
McMaster scale was used to examine students’ attitudes toward peers
with disabilities, while Contact with Disabled Persons Scale and the
Children’s Knowledge about Handicapped Persons Scale were used
to assess frequency of contact and knowledge about disabilities.
Results. Girls showed a significantly higher level (25.21±6.21) of frequency
of contacts with students with disabilities compared to boys
(19.66±7.30) (p=0.043) and higher level of knowledge (27.88±5.88)
about disabilities compared to boys (25.50±4.69) (p=0.009). Respondents
who attended school together with children with disabilities
(31.07 ± 8.41) showed a significantly higher level of frequency of
contacts with students with disabilities compared to respondents
who did not attend school with peers with disabilities (13.72±6.32)
(p=0.001).
Conclusion. Higher level of knowledge and frequent contacts with
peers with disabilities does not have influence on the emergence of
more positive attitudes of students towards peers with disabilities.

Expression of tumor necrosis factor alpha, interleukin-1 and matrix metalloproteinase-9 and pathomorphological changes in acquired middle ear cholesteatoma

Dalibor Vranješ, Predrag Špirić, Mirjana Gnjatić — Tue, 14 Dec 2021 00:00:00 +0100

Introduction. The inflammatory mediators play a central role in the
pathogenesis of the inflammatory process of the middle ear and cholesteatoma
from the aspect of initiating and maintaining the inflammatory
response to infection and lesion. The aim of the study was to
examine if the presence of acquired cholesteatoma could predict pathomorphological
changes of the tympanic cavity mucosa in relation to
the control tissue of the inflamed middle ear mucosa and to examine
and compare the expression levels of tumor necrosis factor-alpha
(TNF-α), interleukin-1 (IL-1) and matrix metalloproteinase 9 (MMP-9)
with pathomorphological changes in the middle ear mucosa in chronic
otitis media (COM), with and without acquired cholesteatoma (AC).
Methods. The immunohistochemical study included 178 patients of
both sexes, aged 5 to 75, who underwent microsurgical treatment
of COM from 2015 to 2018. Patients were divided into two groups
based on the presence or absence of AC of the middle ear: 97 with
cholesteatoma (CCOM) and 81 without cholesteatoma (COM). Samples
of the perimatrix of AC and inflamed middle ear mucosa were
taken intraoperatively. The condition of the tympanic cavity mucosa
was examined by otomicroscopy exploration intraoperatively. The
expression levels of TNF-α, IL-1 and MMP-9 were determined by immunohistochemical
analysis.
Results. The difference in the percentage distribution of patients according
to the condition of the tympanic cavity mucosa between both
groups was statistically significant (p <0.01) where in the COM group
the highest frequency was 43.2% of patients with mucosal hypertrophy,
and in the CCOM 56.7% with granulations. With highly positive
expression of TNF-R2 and IL-1, a higher probability of the presence
of mucosal hypertrophy and granulations can be expected, and with
highly positive expression of MMP-9 the presence of granulations.
Conclusion. Acquired middle ear cholesteatoma is a statistically
significant predictor of the occurence of mucosal hypertrophy and
granulations in the tympanic cavity in relation to the control tissue of
the inflamed middle ear mucosa. The high expression of TNF-R2, IL-1
and MMP-9 shows a statistically significant association with the presence
of granulations and mucosal hypertrophy in acquired middle
ear cholesteatoma which may have clinical significance in the evaluation
and prognosis of the disease.

Analysis of anatomy and configuration of the canal system of the maxillary second premolar in the population of Bosnia and Herzegovina

Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Successful endodontic treatment depends upon the
clinician’s knowledge and ability to recognize and diagnose the presence
of anatomical and morphological variations of the root and
canal system. The aim of this study was to establish the number of
roots and root canal configurations of the maxillary second premolar
in the population of Bosnia and Herzegovina.
Methods. The study sample was comprised of 150 maxillary second
premolar teeth extracted for orthodontic or prosthetic reasons. Endodontic
drills were used for trepanation of cavum dentis, and the
number and patency of each root canal were determined by K- expander
# 15. Then, the samples were decalcified, made transparent
and colored, to enable 3D viewing of the canal system. Decalcified
teeth were observed from two projections (clinical and approximal)
and analyzed in detail with a magnifying glass under 3 × and 5 ×
magnification in order to determine the number of roots, number
of canals, root canal configuration using Vertucci’s classification and
number of anastomoses between canals. Statistical significance was
obtained using Chi-square test.
Results. The results obtained by decalcification of the teeth showed
that, by radiographic analysis from the clinical projection, all the
teeth had a single root. While, by the analysis from the approximal
projection, 94.0% had one, 6.0% two roots. From the approximal
projection, 70.7% with a single root canal and 29.3% with two root
canals are visualized. The most common type of root canal configuration
in the maxillary second premolars was Type I in both clinical
(87.9%) and approximal projection (40.7%).
Conclusion. These results emphasize the importance of knowing the
variations in root canal morphology, because excluding the possibility
of morphological variations can lead to failure of endodontic therapy.

Vitamin D and atherosclerosis

Tue, 14 Dec 2021 00:00:00 +0100

Cardiovascular diseases rank first on the mortality list globally
or 31%. The basic measure of prevention in accordance with
the recommendations of the World Health Organization is a
change in risk lifestyle in terms of diet, physical activity, tobacco
and alcohol consumption. Vitamin D was previously recognized
as a regulator of calcium and phosphorus ratio, bone
remodeling or the main controller of skeletal pathophysiology.
However, vitamin D enjoys great interest in clinical and
epidemiological research in terms of its possible impact on
reducing the risk of cardiovascular diseases. Among other
things, vitamin D deficiency is associated with an increased
risk of endothelial dysfunction. Although the deficiency has
been identified as a risk marker for cardiovascular diseases,
the mechanism of action of vitamin D on the path from endothelial
dysfunction to cardiovascular diseases has not been
fully revealed. The findings in this segment of activity of vitamin
D would be significant in terms of reducing morbidity
and mortality from cardiovascular diseases.

The function of autophagy as a fundamental process of preserving cell homeostasis

Nikolina Elez-Burnjaković, Lejla Pojskić, Sanin Haverić, Ajla Smajlović — Tue, 14 Dec 2021 00:00:00 +0100

Autophagy is a dynamic process, conserved in all eukaryotes.
It is responsible for the degradation of cytoplasmic content.
Autophagy is crucial in cell survival and cell death. It plays a
significant role in the cell response to stress, nutrient deficiencies,
embryonic development, tumor suppression, response to
pathogens and aging. The process of autophagy is also involved
in the pathology of human diseases, such as cancer, diabetes,
cardiomyopathy, and neurodegenerative diseases such as Alzheimer’s
and Parkinson’s disease. Autophagy is a mechanism
that involves degradation of cells, proteins, damaged organelles
and pathogens through the lysosomal mechanisms, thus autophagy
supports cell survival during starvation, hypoxia and metabolic
stress. However, if extensive and/or excessive, autophagy
can promote apoptosis (type I) or function as an alternative celldeath
pathway, called autophagic cell death (type II). Autophagy
can either promote cancer cell death, or serve as a survival
mechanism against apoptosis or necrosis induced by various anticancer
treatments. Given the contradictory role of autophagy
during tumor initiation and progression, the use of autophagy
in therapy depends on the context and must be approached individually.

The knowledge of nurses about prevention of infections caused by the bacteria Clostridium difficile

Ivana Miljković, Amajla Topuz — Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Clostridium difficile is the leading cause of nosocomial
diarrhea, associated with the use of antibiotics. The most common
ways of transmitting the infection in hospitals are contaminated surfaces
of the premises and the hands of medical staff.
Methods. The study involved 68 nurses/technicians employed at
the University Hospital Foca in the departments of surgery and internal
medicine. As a research instrument, we used a specially designed
questionnaire, created by the authors for the purpose of this
research.
Results. The research showed that 61.8% of respondents knew that
hand washing with warm water and soap was considered the most effective
prevention of the spread of infections, and 55.88% meant that
they used chlorine-based preparations and hydrogen peroxide as the
only effective disinfectant. Nurses with a work experience of less than
5 years showed better knowledge than other groups.
Conclusion. The knowledge of nurses about the prevention of C. difficile
infection is not at a satisfactory level, which indicates the growing
need for education of nurses.

Relationship between auditory discrimination of Serbian language phonemes and dysgraphia in different forms of written expression

Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Writing is the most complex human ability and the
most direct form of communication. Auditory discrimination is the
ability to distinguish different sounds of language. After the age of
seven, difficulties in auditory discrimination, even of similar sounds,
are considered a pathological phenomenon. The aim of the research
was to determine whether difficulties in auditory discrimination of
phonemes are related to the manifestation of dysgraphia in children
of younger school age.
Methods. The research was conducted at the Elementary School
“Vuk Karadzić” in Priboj, during 2020, with the previous consent of the
school principal, as well as the students’ parents. The research sample
included fifty children of the third and fourth grade, aged 9 and 10.
For the purpose of this research, two tests were used: the Phonemic
Discrimination Test (Kostić, Vladisavljević, Popović, 1983) and the Dysgraphic
Handwriting Assessment Test (Ajuriaguerra, Auzias. 1971).
Results. There was no significant difference in achievement in the
Phonemic Discrimination Test between boys and girls. Half of the tested
students achieved the maximum score in the Phonemic Discrimination
Test and they were fairly equal in their achievement in the Phonemic
Discrimination Test. Girls generally had harmoniously developed
handwriting, while more than half of the boys in the categories had
inconsistent handwriting or dysgraphic handwriting when it came to
the forms of dictation, free topic and transcription. No statistically significant
correlations were found between the results in the Phonemic
Discrimination Test and the Dysgraphic Handwriting Assessment Test,
p > 0.05.
Conclusion. Based on the assessment of writing ability and auditory
discrimination in young school children, no statistically significant association
was found between auditory discrimination of sounds and
manifestations of dysgraphic handwriting in all three forms of written
expression (dictation, free topic, transcription).

The incidence of anxiety in patients with chronic subjective tinnitus

Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Tinnitus is a perception of a sound in the ears
in the absence of acoustic stimulation whose pathophysiological
mechanisms have not been evaluated yet. Approximately,
1–2% of people report distress which can negatively affect
their daily performance. Our study aimed to assess the incidence
of anxiety in patients with tinnitus.
Methods. The study was designed as a cross-sectional study.
The participants were divided into two groups: a group of 73
patients with tinnitus (with two subgroups in relation to the
duration of tinnitus - less than one year and more than one
year) and a control group of 43 patients without tinnitus. We
examined the presence of anxiety in all patients using the
Burns Anxiety Inventory (BAI). The quality of life of all patients
was estimated by Tinnitus Handicap Inventory (THI).
Results. In the group of patients with tinnitus, 56.2% of them
had mild and 24.7% moderate hearing loss, while 27.7% of respondents
from control group had mild and 8.5% moderate
levels of hearing impairment. THI results showed that patients
with tinnitus less than 1 year had a significantly (p= 0.002)
higher level of disorders in daily life, compared with the group
who had tinnitus for more than 1 year. The 30.8% of respondents
had minimal anxiety, 26.7% borderline anxiety, 17.5%
mild anxiety, the same percentage of respondents moderate,
5% severe, while 2.5% had extreme anxiety based on BAI.
Conclusion. Anxiety can be considered as potentially significant
modulators of changes in brain structures observed in
people with tinnitus.

Effect of using HEART score in patients with chest pain at the emergency department of University Clinical Centre of the Republic of Srpska

Bojan M. Stanetić, Nenad Jaćimović, Šemsudin Porčić — Tue, 14 Dec 2021 00:00:00 +0100

Introduction. Recent data show that 1/5 of patients with chest
pain in emergency room (ER) have an acute coronary syndrome
that requires admission and treatment. Current guidelines have
endorsed the HEART score for admission, observation or discharge
in individual patients. We aimed to assess performance of
the HEART score at the University Clinical Centre of the Republic
of Srpska.
Methods. Between March 1 and March 31, 2019, all patients with
chest pain who presented at ER were evaluated. The HEART score
for each patient was calculated, and patients were stratified based
on the HEART score recommendation, i.e. low-, intermediate- and
high-risk. Patients were followed 6 weeks for major adverse cardiac
events (MACE).
Results. Out of a total of 144 included patients, 23 had low-risk
(0−3) HEART scores, while 73 and 48 patients had intermediate-risk
(4−6) and high-risk (7−10) HEART scores, respectively. The discordance
among intuitive judgments by clinicians and the HEART
score advice became typically obtrusive in patients with excessive
(7−10) HEART score rankings: 25 out of 48 (52.1%) patients
had been discharged, while the remaining 22 patients had been
admitted and 1 person was observed. In population with HEART
score rankings 4–6, MACE became recognized in 1/73 (1.4%) while
in patients with excessive HEART score rankings (values 7–10),
MACE befell in 5/48 (10.4%). Only one patient who was discharged
experienced MACE. The ROC analysis of the HEART score revealed
a value of 0.78, suggesting a good performance in discriminating
between low- and high-risk patients.
Conclusion. Discordance between clinical decision and HEART
score recommendation was not associated with severe clinical
consequences.