BIOMEDICINSKA ISTRAŽIVANJA

Volume 12, No 1, June 2021


ORIGINAL SCIENTIFIC ARTICLES

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

Biomedicinska istraživanja 2021; 12(1):1–8 doi:10.5937/BII2101001S

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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. Stanetić1, Nenad Jaćimović2, Šemsudin Porčić2

 

1University Clinical Centre of the Republic of Srpska, Department of Cardiology, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina
2University of Banja Luka, Medical Faculty, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina

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.
Keywords: heart score, emergency room, chest pain

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

Brankica Davidović, Ljiljana Bjelović, Igor Radović, Bojana Davidović, Svjetlana Janković, Smiljka Cicmil

Biomedicinska istraživanja 2021; 12(1):9-18 doi: 10.5937/BII2101009D

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

 

Brankica Davidovič1, Ljiljana Bjelović1, Igor Radović1, Bojana Davidović1, Svjetlana Janković1, Smiljka Cicmil1

1University of East Sarajevo, Faculty of Medicine Foca, The Republic of Srpska, Bosnia and Herzegovina

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.
Key words: maxillary second premolar, root canal, decalcification

The incidence of anxiety in patients with chronic subjective tinnitus

Ljiljana Krsmanović, Siniša Šolaja, Nenad Arsović, Bojan Joksimović, Zoran Dudvarski, Gabrijela Šolaja

Biomedicinska istraživanja 2021;12(1):19–28 doi:10.5937/BII2101019K

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The incidence of anxiety in patients with chronic subjective tinnitus

Ljiljana Krsmanović1,3, Siniša Šolaja1,3, Nenad Arsović2,3, Bojan Joksimović3,Zoran Dudvarski2,3,                  Gabrijela Šolaja4

1University Hospital Foca, Department of Otorhinolaryngology and Maxillofacial Surgery, The Republic of
Srpska, Bosnia and Herzegovina
2Clinical Center of Serbia, Clinic for Otorhinolaryngology and Maxillofacial Surgery Belgrade, Serbia
3University of East Sarajevo, Faculty of Medicine, Foca, The Republic of Srpska, Bosnia and Herzegovina
4University Hospital Foca, Department of Neurology, Foca, The Republic of Srpska, Bosnia and Herzegovina

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.
Key word: tinnitus, anxiety, Tinnitus Handicap Inventory, Burns Anxiety Inventory

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

Biomedicinska istraživanja 2021;12(1):29–38 doi:10.5937/BII2101029V

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

 

Dalibor Vranješ1,2, Predrag Špirić1,2, Mirjana Gnjatić1,2


¹University of Banja Luka, Faculty of Medicine, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina
²University Clinical Center of the Republic of Srpska, Ear, Nose and Throat Department, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina


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.
Keywords: cholesteatoma, inflammatory mediators, middle ear mucosa

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

Vesela Milankov, Ivana Anđić, Jelena Vrućinić, Ljiljana Simić, Milica Stelkić

Biomedicinska istraživanja 2021;12(1):39–48 doi:10.5937/BII2101039M

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

Vesela Milankov¹, Ivana Anđić², Jelena Vrućinić¹, Ljiljana Simić¹, Milica Stelkić¹


¹University of Novi Sad, Faculty of Medicine, Department of Special Education and Rehabilitation, Novi Sad, Serbia
²Preschool institution “Neven”, Priboj, Serbia

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 tothe 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).
Key words: students, writing, auditory discrimination, dysgraphia

 

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

Slađana Đorem, Gordana Odović, Ana Lukić, Jelena Milić, Bojan Joksimović, Milena Božinović

Biomedicinska istraživanja 2021;12(1):39–48 doi:10.5937/BII2101039M

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

Slađana Đorem1, Gordana Odović2, Ana Lukić3, Jelena Milić4, Bojan Joksimović4, Milena Božinović4

1Primary school ‘’Hilmi ef. Šarić“, Tarčin, Bosnia and Herzegovina
2University of Belgrade, Faculty for special education and rehabilitation, Belgrade, Serbia
3Center for specialist social services ‘’For mother and child“, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina
4University of East Sarajevo, Faculty of Medicine Foca, The Republic of Srpska, Bosnia and Herzegovina

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.
Key words: attitudes, primary school students, disability

 

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

Ivana Miljković, Amajla Topuz

Biomedicinska istraživanja 2021;12(1):61–68 doi:10.5937/BII2101061M

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

Ivana Miljković, Amajla Topuz

University of East Sarajevo, Faculty of Medicine Foca, Department of Health Care, The Republic of Srpska,
Bosnia and Herzegovina

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.
Key words: Clostridium difficile, nurses’ knowledge, nosocomial infections

 

Late postoperative complications of arteriovenous fistula for hemodialysis

Zlatko Maksimović, Nenad Lalović, Siniša Maksimović

Biomedicinska istraživanja 2021;12(1):69–80 doi:10.5937/BII2101069M

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Late postoperative complications of arteriovenous fistula for hemodialysis

Zlatko Maksimović1,2, Nenad Lalović2, Siniša Maksimović1,3

1Public Hospital Institution ‘’Sveti Vračevi’’ Bijeljina, The Republic of Srpska, Bosnia and Herzegovina
2University of East Sarajevo, Faculty of Medicine, Foca, The Republic of Srpska, Bosnia and Herzegovina
3University of Banja Luka, Faculty of Medicine, Banja Luka, The Republic of Srpska, Bosnia and Herzegovina

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.
Key words: arteriovenous fistula, hemodialysis, late complications, risk factors

 

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

Nikolina Elez-Burnjaković, Lejla Pojskić, Sanin Haverić, Ajla Smajlović

Biomedicinska istraživanja 2021;12(1):81–89 doi:10.5937/BII2101081E

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

Nikolina Elez-Burnjaković1, Lejla Pojskić2, Sanin Haverić2,Ajla Smajlović2

 

1University of East Sarajevo, Faculty of Medicine Foca, Department of Preclinical Subjects, Foca, The Republic of Srpska, Bosnia and Herzegovina
2University of Sarajevo, Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina

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.
Key words: autophagy, cell survival, cell death, tumor

 

Puberphonia: from classic to modern approach

Bojana Vuković, Slađana Ćalasan

Biomedicinska istraživanja 2021;12(1):90–98 doi:10.5937/BII2101090V

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Puberphonia: from classic to modern approach

Bojana Vuković, Slađana Ćalasan

University of East Sarajevo, Faculty of Medicine Foca, The Republic of Srpska, Bosnia and Herzegovina


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.
Key words: voice mutation, puberty, puberphonia

 

Vitamin D and atherosclerosis

Vesna Lazić, Biljana Mijović, Miloš Maksimović, Olivera Rašević, Maida Mulić, Maja Vuković

Biomedicinska istraživanja 2021;12(1):99–108 doi:10.5937/BII2101099L

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Vitamin D and atherosclerosis

Vesna Lazić1, Biljana Mijović2, Miloš Maksimović3, Olivera Rašević4, Maida Mulić5, Maja Vuković2

1PHI Public Health Institute of the Republic of Srpska, Regional Center Zvornik, The Republic of Srpska, Bosnia and Herzegovina
2University of East Sarajevo, Faculty of Medicine Foca, The Republic of Srpska, Bosnia and Herzegovina
3University of Belgrade, Faculty of Medicine, Belgrade, Institute of Hygiene with Medical Ecology, Serbia
4University Hospital Foca, The Republic of Srpska, Bosnia and Herzegovina
5Public Health Institute Tuzla’s Canton, Bosnia and Herzegovina

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.
Key words: vitamin D, endothelial dysfunction, atherosclerosis, cardiovascular diseases, mortality

 

A rare thyroid disorder mimicking mitochondrial disease

Adrijan Sarajlija, Slađana Todorović, Biljana Alimpić, Maja Čehić

Biomedicinska istraživanja 2021;12(1):109–114 doi:10.5937/BII2101109S

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A rare thyroid disorder mimicking mitochondrial disease

Adrijan Sarajlija1,2, Slađana Todorović3, Biljana Alimpić1, Maja Čehić1

1Mother and Child Health Care Institute of Serbia ’’Dr Vukan Cupic“, Pediatric Day Care Hospital, Belgrade, Serbia
2University of Belgrade, School of Medicine, Belgrade, Serbia
3Mother and Child Health Care Institute of Serbia ’’Dr Vukan Cupic“, Department of Endocrinology, Belgrade, Serbia

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.
Key words: Allan-Herndon-Dudley syndrome, hyperammonemia, lactic acidosis