Abstract:
OBJECTIVE:To investigate possible mitochondrial DNA (mtDNA) mutations in patients with Leber's hereditary optic neuropathy (LHON) in order to provide a precise diagnosis and genetic counseling. MATERIAL AND METHODS:Between 1982 and 2007, ten patients were clinically diagnosed with LHON and six of these patients agreed to be involved in this study. Six healthy individuals were also included as a control group. mtDNA was isolated from peripheral blood samples and polymerase chain reaction and mtDNA sequence analysis were performed. RESULTS:In one of the six patients, a homoplasmic mutant m.11778G>A mutation was detected. All of the clinically diagnosed LHON patients and the control groups had the m.14212C>T and m.14580G>A single nucleotide polymorphisms (SNPs). The m.11719A>G SNP was detected in three of six patients and four of the controls. Two of the six patients had the m.3197T>C SNP and, in addition, the m.14258G>A SNP was found in one of these two patients, while neither of these mutations were present in the control group. CONCLUSION:The clinical diagnosis of LHON could be supported by molecular genetics only in one patient by the detection of one mutation. The m.3197T>C and m.14258G>A SNPs should be considered as potential mtDNA mutations due to the fact that they were detected in the patient group. These mutations should be investigated further in large case groups for suspected gene loci that could lead to optic neuropathy.
journal_name
Balkan Med Jjournal_title
Balkan medical journalauthors
Gürkan H,Ozal SA,Esgin Hdoi
10.5152/balkanmedj.2012.015subject
Has Abstractpub_date
2012-09-01 00:00:00pages
306-9issue
3eissn
2146-3123issn
2146-3131pii
bmj-29-3-306journal_volume
29pub_type
杂志文章abstract:BACKGROUND:Calvarial lesions are often detected incidentally in routine radiology. Most lytic lesions of the skull are benign. Enlarged parietal foramina are benign lesions caused by deficient intramembranous ossification. CASE REPORT:An 11 month-old female patient was admitted with a mass on the right of the back of ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2014.14528
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Bell's palsy is the most frequent cause of unilateral facial paralysis. Inflammation is thought to play an important role in the pathogenesis of Bell's palsy. AIMS:Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are simple and inexpensive tests which are indicative of inflammatio...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.15456
更新日期:2015-04-01 00:00:00
abstract:INTRODUCTION:Pulmonary sarcomatoid carcinomas are very rare lung neoplasms, and no consensus exists regarding the optimal treatment. The prognosis of sarcomatoid carcinomas has been reported to be unfavorable compared to non-small-cell lung cancers; however, prognostic factors in patients undergoing surgery for sarcoma...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.galenos.2020.2020.7.45
更新日期:2020-09-29 00:00:00
abstract:BACKGROUND:Respiratory distress syndrome (RDS) is a common critical disease in term neonates, but reasons for the occurrence of RDS remains unclear. AIMS:This study aimed to investigate the cause of RDS in full-term neonates by a retrospective case-control study. STUDY DESIGN:Case-control study. METHODS:Among the pa...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2014.8733
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND:In order to determine the presence or absence of a certain disease, multiple diagnostic tests may be necessary. Performance of these tests can be sequentially evaluated. AIMS:The aim of the study is to determine the contribution of the test in each step, in reducing diagnostic uncertainty when multiple test...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.103
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Continuous ambulatory peritoneal dialysis is a successful treatment modality for patients with end-stage renal disease. Peritoneal fibrosis (PF) is the most critical complication of long-term peritoneal dialysis (PD). AIMS:In our study, we aimed to compare the effects of colchicine and sirolimus on PF induc...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.15183
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to determine the effect of massage to the sacral region after cesarean delivery instead of employing a urinary catheter for the prevention of urinary retention. STUDY DESIGN:Cross sectional study. MATERIAL AND METHODS:This interventional study population consisted of 60 women who we...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.083
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Late preterm infants have increased rates of morbidity and mortality compared to term infants. Determining the risk factors in these infants leads to more comprehensive preventive and treatment strategies. AIMS:Our aim was to analyse the morbidity rates such as respiratory system diseases, infections, conge...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.16721
更新日期:2016-03-01 00:00:00
abstract:Background:The ideal prophylaxis duration for transrectal ultrasonography-guided prostate biopsy is incompletely defined. Aims:To compare the infectious complications of transrectal ultrasonography-guided prostate biopsy with and without extended antibiotic prophylaxis. The secondary aim was to evaluate the risk facto...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2018.0477
更新日期:2018-09-21 00:00:00
abstract:BACKGROUND:In women with endometrial hyperplasia, there is a risk for co-existent endometrial cancer when patients are subjected to immediate surgical treatment. AIMS:The aim of this study was to investigate the frequency of endometrial cancer and the accuracy of frozen section analysis at the time of hysterectomy amo...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.151232
更新日期:2016-11-01 00:00:00
abstract:Background:Langerhans cell histiocytosis is characterized by an abnormal proliferation of neoplastic Langerhans cells. Langerhans cell histiocytosis commonly affects the pediatric population, whereas presentation in adults remains a rare event. The presentation of Langerhans cell histiocytosis is highly variable, but t...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.1730
更新日期:2018-11-15 00:00:00
abstract:Background:Oral immunotherapy for cow’s milk allergy is an effective treatment option because of its ability to increase the threshold for clinical reactions. Aims:To present our experience of oral immunotherapy for cow’s milk allergy in the pediatric allergy outpatient clinic, and to evaluate the long-term efficacy o...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.galenos.2020.2020.1.140
更新日期:2020-10-23 00:00:00
abstract:BACKGROUND:As the idea of stem cell technology in the treatment of sensorial hearing loss has emerged over the past decades, the need for in vivo models for related experiments has become explicit. One of the most common experimental models for inner ear stem cell delivery experiments is the Wistar albino rat. AIMS:To...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2016.0226
更新日期:2017-05-05 00:00:00
abstract:Background:Scoring systems are useful to inform the patients about the success and complication rates of the operation prior the surgery. Aims:To determine the applicability of the popular scoring systems (Guy’s, stone size, tract length, obstruction, number of involved calices, and essence/stone density and Clinical ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.1631
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Hemifacial spasm is a sudden, involuntary and synchronous spasm of the facial muscles. The most frequent cause of this condition is compression of the facial nerves due to vascular pathologies. The most commonly used method of treatment is Botulinum toxin injection. However, the gold standard treatment is su...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.150849
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:In Bulgaria, more than 20 autochthonous human parasitic infections have been described and some of them are widespread. Over 50 imported protozoan and helminthic infections represent diagnostic and therapeutic challenges and pose epidemiological risks due to the possibility of local transmission. AIMS:To es...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2017.0167
更新日期:2018-01-20 00:00:00
abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors. AIMS:We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian po...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2013.7159
更新日期:2013-06-01 00:00:00
abstract::A 59-year old patient was admited to the Gastroenterology Clinic with the signs of gastrointestinal bleeding. Computerized tomography (CT) and a barium-meal radiography revealed a circumferential nodular wall narrowing and incomplete stricture at the D2 part of the duodenum. CT also showed a poorly demarcated mass in ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.076
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:The choroid plexuses, which could secrete a number of neurotrophins, have recently been used in transplantation in central nervous system diseases. AIMS:To study the mechanism of nerve regeneration in the central nervous system by grafting choroid plexus tissues. STUDY DESIGN:Animal experimentation. METHO...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2013.8259
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Clinically, amyopathic dermatomyositis is a clinically distinct subgroup of dermatomyositis characterised by unique dermatological manifestations without muscle involvement. Clinically, amyopathic dermatomyositis is frequently associated with interstitial lung disease, which usually has a rapidly progressive...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2016.1061
更新日期:2017-08-04 00:00:00
abstract:BACKGROUND:The increases of free radicals have been proposed to be involved in the pathogenesis of sepsis, which leads to multiple-organ dysfunction syndromes. The uses of antioxidants as a complementary tool in the medical care of oxidative stress-related diseases have attracted attention of researchers. Resveratrol (...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.15516
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. CASE REPORT:We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2012.107
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Recently, accumulated research has found that the expression of telomerase activity (TA) was associated with colorectal cancer (CRC) advancement, whereas the TA prognostic effect in CRC patients is still controversial. AIMS:To investigate relationships between TA and CRC clinicopathological parameters. STU...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.151182
更新日期:2016-01-01 00:00:00
abstract::Definitive radiotherapy plays a major role in the treatment of locally advanced non-small cell lung cancer (LA NSCLC). After the impact of RT dose for lung cancer was established, a number of trials were structured with the aim of better local control and overall survival by either dose escalation or shortening the to...
journal_title:Balkan medical journal
pub_type: 杂志文章,评审
doi:10.5152/balkanmedj.2014.14496
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Gap junctions (GJ) are important in pain signalling at the spinal cord level. AIMS:The aim of this investigation was to study the effects of GJ on nociception and the analgesic/hyperalgesic effects of morphine following administration of carbenoxolone as a GJ blocker. Male Wistar rats (200-250 g) were divid...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2014.13099
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Apigenin is a plant-derived compound belonging to the flavone class, which possess antioxidant, free-radical-scavenging and anti-inflammatory properties. AIMS:To address the effects of apigenin on serum anti-mullerian hormone levels, tissue oxidative stress parameters and histopathological changes in ovaria...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2016.1386
更新日期:2017-09-29 00:00:00
abstract:BACKGROUND:Incarcerated inguinal hernia is a commonly encountered urgent surgical condition, and tension-free repair is a well-established method for the treatment of non-complicated cases. However, due to the risk of prosthetic material-related infections, the use of mesh in the repair of strangulated or incarcerated ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2016.150137
更新日期:2016-07-01 00:00:00
abstract::In this invited review article, I present a translational perspective and overview of our research on auditory hallucinations in schizophrenia at the University of Bergen, Norway, with a focus on the neuronal mechanisms underlying the phenomenology of experiencing "hearing voices". An auditory verbal hallucination (i....
journal_title:Balkan medical journal
pub_type: 杂志文章,评审
doi:10.4274/balkanmedj.2017.1226
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND:Young maternal age is variously defined in studies of its effect on obstetrics and perinatal outcomes. Also, pregnancy has been reported as the leading cause of death in adolescent girls in low- and middle-income countries. AIMS:The aim of the study was to evaluate whether young maternal age was associated ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.5152/balkanmedj.2015.150364
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Haematopoietic stem cell transplantation is a curative treatment option for many haematological disorders. Infection following haematopoietic stem cell transplantation is one of the major causes of mortality. AIMS:To investigate the outcomes of early cessation of empirical antibiotic treatment per protocol ...
journal_title:Balkan medical journal
pub_type: 杂志文章
doi:10.4274/balkanmedj.2016.0012
更新日期:2017-04-05 00:00:00