Introduction: In approximately 96% of probands, the diagnosis of Treacher Collins Syndrome (TCS) is confirmed by molecular genetic tests. These tests can detect heterozygous mutation of TCOF1 gene (coding treacle protein) and variants of POLR1D gene (coding RNA polymerase I subunit D) with autosomal dominant inheritance, or biallelic variants of POLR1C gene (coding RNA polymerase I subunit C) and POLR1D with autosomal recessive inheritance. Case presentation: We present a neonate proband with family history of clinical features suggestive for TCS. Our patient was investigated for copy number changes (CNCs) of TCOF1 gene using SALSA MLPA P310-B3 TCOF1 probemix to perform Multiplex Ligation-dependent Probe Amplification (MLPA), the results being normal. Dysmorphic features revealed “bird-like” face with trigonocephaly, craniosynostosis, hypoplastic supraorbital rims, underdeveloped zygomas, mandibular hypoplasia and retrognathia (mandibulofacial dysostosis). Other clinical features, like abnormal position and structure of the external ears (microtia, with a bilateral low-set ears, crumpled and malformed pinnae and aural atresia), were also observed. Conclusion: Taking into account our results, and also data found in literature, we consider that all TCS cases, but in particular patients with specific TCS features and without CNCs, require additional investigations using sequencing techniques.
Category Archives: AMM 2019
Volume 65, Number 4, 2019
Spleen Derived Immune Cells in Acute Ischemic Brain Injury: A Short Review
Spleen-derived immune cells are considered to play central role in the progression of ischemic brain damage contributing to both the local and systemic inflammatory response initiated by an ischemic insult in the brain tissue. Brain-spleen communication in acute ischemic brain injury has been studied especially in rodent models of stroke, which mimic the acute focal brain ischemia in humans. Rodent spleens decrease in size after experimentally induced stroke, due mainly by the release of spleen`s immune-cells into the circulation. Splenectomy prior to middle cerebral artery occlusion is protective to the ischemic brain resulting in decreased infarct volume and reduced neuroinflammation. Various therapeutic strategies in clinical use aiming to protect the neural tissue after stroke were found to involve the modulation of splenic activity, altogether indicating that the spleen might be a potential target for therapy in ischemic brain injury. Importantly, the most clinical studies demonstrated that the splenic response in stroke patients is similar to the changes seen in rodent models. Thus, despite the limitations to extrapolate the results of animal experiments to humans, rodent models of stroke represent an important tool for the study and understanding of brain-spleen communication in the pathogenesis of acute brain ischemia.
Fatal Road Traffic Accidents in Mureș County, Romania – A Retrospective Autopsy Based Study
Objective: The main objective of this study is to evaluate the medico-legal aspects of fatal road traffic accidents.
Methods: This is a retrospective study consisting of 80 forensic autopsies performed at the Institute of Legal Medicine – Tîrgu Mureș, Romania during a two years period, between January 1st, 2016 to December 31st, 2017. The information obtained was based on the medical records and the evaluation of autopsy reports.
Results: Male victims involved in road traffic accidents were nearly three times more numerous than women (72.5% vs. 27.5%). Divided into 3 age groups (under 35 years old, 36-59 years old and over 60 years old) we noticed a relatively uniform distribution of the victims, with a slight dominance of the 36-59 age group and the over 60 years of age group. The highest number of victims was among the pedestrians (36.25%), followed in decreasing order by the drivers (33.75%), passengers (17.5%), cyclists (7.5%) and motorcyclists (5%). Positive alcohol testing was found in 14 of drivers (81 %). The analysis of lesions found during necropsies of the deceased at the scene of the accident highlights some particularly life-incompatible injuries that resemble any rescue effort on the part of the medical crew moved to the scene of the accident.
Conclusion: Inappropriate road conditions and indiscipline in traffic of both drivers and pedestrians contribute to unacceptably high mortality.
Volume 65, Number 3, 2019
The Association between Various Lifestyle Patterns and the Body Mass Index in Adolescents
Objective: The study aims to analyze obesogenic behavioral patterns of adolescents living in Mureş County, Romania, as well as to establish a relationship between these behaviors and their Body Mass Index (BMI), in an attempt to provide effective prevention strategies for obesity.
Material and Methods: 153 students between 9th to 12th grade, aged between 14 and 19 years old, from the Vocational and Art Highschool of Târgu Mureş were included in the study. All the candidates filled out an evaluation questionnaire of lifestyle and risky behaviors. The analyzed data were sex, age, residence, BMI and risky eating behavior defined as the consumption of carbohydrates (bread, potatoes, sweets), sodas, junk food, alcohol (wine, distilled beverages, beer), beer separately, level of physical activity (school and extra-school sports activities), sedentary behaviors (≥2 hours/day in front of a screen: personal computer-PC and television-TV), and spending ≥2 hours/day separately on the PC and on the TV.
Results: A statistically significant association was observed between BMI and consumption of fast-food, tobacco, beer, sedentary behavior and spending ≥2 hours/day in front of the PC. Moreover, there was a statistically significant difference between the BMI values of adolescents presenting all studied risk behaviors compared to those who did not.
Conclusions: Obesity among adolescents from Mureș County is influenced by lifestyle choices like fast-food, tobacco, beer, sedentary behavior and spending ≥2 hours/day in front of the PC.
Clinical Study on the Perception of Patients with Orthodontic Appliances Regarding the Periodontal Change
Introduction: The orthodontic treatment helps in reestablishing a functional occlusion, improving the aesthetics and functionality of the dento-facial complex. A correct alignment of the teeth, through the correction of some dental or skeletal anomalies, enhances the possibilities of dental hygiene, thus reducing the risk of periodontal affections. Nevertheless, the presence of orthodontic appliances in the oral cavity may reduce the efficacy of the means of oral hygiene by creating retentive areas for food, thus producing damages at the level of the marginal periodontium.
Objective: The evaluation of oral hygiene practices for patients in the course of fixed orthodontic therapy and the identification of changes appeared at the level of the marginal periodontium caused by the orthodontic appliances.
Material and methods: A questionnaire with 20 questions was distributed to a number of 129 patients undergoing the active phase of orthodontic treatment in the Orthodontic and Dentofacial Clinic of the Medical Dental School Tîrgu Mureș or in some private practices in the Bucharest metropolitan area.
Results: The majority of patients surveyed are aware of the means of dental hygiene and practice a daily brushing, associated with auxiliary means. The iatrogenic effects of the fixed therapy are represented by gingival recession, gingival overgrowth and bleeding during brushing but these were visible only in the case of a small number of patients.
Conclusions: The fixed orthodontic treatment must be started only after a thorough evaluation of the marginal periodontium, with a close orthodontist – periodontist collaboration and avoidance of jiggling-like movements.
Markers of Atherosclerosis in Hypertensive Patients with Less Advanced Chronic Kidney Disease
Objective: Our study aimed to validate the neutrophil-to-lymphocyte ratio (NLR) as a marker for aortic arch calcification in hypertensive patients with less advanced chronic kidney disease (CKD).
Methods: A number of forty-four hypertensive patients with chronic kidney disease (categories G3a and G3b – 2012 KDIGO nomenclature) were included in the study. Considering the presence of aortic arch calcification (AAC) on chest X-ray, the study population was divided into two groups: 27 patients AAC present and seventeen without aortic arch calcification. Laboratory data were collected for each patient and NLR was computed. Comorbidities were also recorded: stable coronary artery disease, lower extremity arterial disease and hypertensive heart disease.
Results: A positive correlation between neutrophil-to-lymphocyte ratio and aortic arch calcification in hypertensive CKD patients was identified. Furthermore, advanced age, increased alkaline phosphatase and increased erythrocyte sedimentation rate had a positive association with aortic arch calcification. We found no statistical correlation between neutrophil-to-lymphocyte ratio and other laboratory features in both groups of patients.
Conclusions: Neutrophil-to-lymphocyte ratio may be viewed as a potential risk factor for vascular calcification in patients with moderate chronic kidney disease; nevertheless, future extensive studies are necessary. In the management of hypertensive patients, general medicine might particularly benefit of this simple, readily available inflammatory marker.
Atrial Fibrillation – An Orchestra of Classic and Modern Risk Factors
Over the past years, prevention and control of risk factors has begun to play an important role in the management of patients prone to develop atrial fibrillation (AF). A considerable number of risk factors that contribute to the creation of a predisposing substrate for AF has been identified over the years. Although certain AF risk factors such as age, gender, genetic predisposition, or race are unmodifiable, controlling modifiable risk factors may represent an invaluable tool in the management of AF patients. In the recent decades, numerous studies have evaluated the mechanisms linking different risk factors to AF, but the exact degree of atrial remodeling induced by each factor remains unknown. Elucidating these mechanisms is essential for initiating personalized therapies in patients prone to develop AF. The present review aims to provide an overview of the most relevant modifiable risk factors involved in AF occurrence, with a focus on the mechanisms by which these factors lead to AF initiation and perpetuation.
Evaluation of the Apical Seal after Root Canal Cleaning and Shaping with Two Nickel-Titanium Systems
Objective: The aim of our study is to compare the ability of two nickel-titanium systems that use different rotation motions to create preparations that could promote a complete filling of the apical third of root canals.
Methods: We used 36 freshly extracted teeth, randomly divided in two groups, as follows: in Group A we used ProTaper Next, a system characterized by a continuous rotary motion and in Group B the teeth were instrumented with Wave-One, in which the files have a reciprocating motion. All teeth were root filled based on the same protocol, using gutta-percha and AH Plus. The teeth were further prepared for microleakage evaluation based on dye penetration technique, as follows: immersion in 2% methylene blue, longitudinally sectioned and examination of the apical thirds with an operating microscope. The distance of dye penetration along dentin walls was measured using the ImageJ program.
Results: The comparison between rotational and reciprocating systems showed that reciprocating files significantly promoted a reduced apical microleakage, as demonstrated by unpaired t test, Welch corrected (p=0.0346).
Conclusion: The use of Wave-One Reciprocating system was considered more effective in the shaping of root canals, as they demonstrating better conditions for the hermetic, tridimensional sealing of apical third of the roots canals.