- Journal Details
- First Published
- 30 Jun 2018
- Publication timeframe
- 2 times per year
- Open Access
Marfan syndrome associated with type 1 diabetes and autoimmune thyroiditis in a 27 years old female patient - Case presentation
Page range: 1 - 6
Introduction: Marfan syndrome (MFS) is a genetically determined connective tissue disorder caused by a mutation in the FBN1 gene, located on chromosome 1, which regulates the production of the glycoprotein Fibrillin 1. This results in different connective tissue diseases, especially cardiovascular involvement. Objective: The aim of our presentation is the description of a case in which type 1 autoimmune diabetes and thyreoiditis coexists in a previously undiagnosed patient with MFS. Case presentation: A 27-years-old female patient presented to the emergency department with a 6 months long polyuria-polydipsia syndrome, with weight loss of -10kg. The onset of diabetes manifested with severe ketoacidosis (blood glucose=674 mg/dl, pH=7,036, urinary ketone bodies=159 mg/dl). Pathological laboratory findings include C-peptide=212 ng/ml, anti glutamic acid decarboxylase (GAD) = 5,1UI/ml, ATPO=558 UI/ml. Clinical features of MFS could be recognised, like dolicocephalic face with enophthalmus, height: 184 cm, weight: 40 kg with a BMI of 11,81 kg/m2 respectively 50 kg and 14,77 kg/m2 before weight loss; long limbs, arachnodactyly, kyphoscoliosis, mitral systolic murmur. Imaging procedures showed atrial septal defect with a 6 mm bidirectional shunt, the ascending aorta, the trunk and the aortic isthmus were dilated, mitral valve prolapse, tricuspid valve insufficiency and dilatation of the right heart cavities, interatrial septal aneurysm and pulmonary hypertension. The ECG showed a right branch block. Ophthalmologic examination confirms the lens subluxation. Discussion: The etiology of diabetes and thyroiditis has proven to be autoimmune. With the introduction of base-bolus insulin therapy glycemic control was obtained and beta-blocker treatment was started for the cardiac involvement. Summary: This particular case is unique due to the fact that associates two serious lifelong diseases. MFS should be considered on the basis of morphological characteristics, which requires further investigation due to its serious long term complications.
- Marfan syndrome
- Type 1 diabetes
- autoimmune thyroiditis
- Open Access
New trend in transfusion medicine – Patient blood management
Page range: 7 - 14
Transfusion is often part of hospital care, the indication being in constant change as an effect of latest multicentric studies’ result. Although transfusion-related complications decreased significantly, the intervention still involves risks, that are worth assuming if only the anemia of patient cannot be managed with other, safer methods. Management of patients declining transfusion or of those unsuitable for transfusion has brought instructive results in assessment of hemoglobin concentration conditioning the necessity of the intervention. Further development of these findings led to development of Patient Blood Management concept, aiming the optimization of blood product usage while improving morbidity and mortality of patient care. Patient Blood Management applies guides helping to avoid transfusions that are not definitely necessary for patients. Using restrictive transfusion principles, preoperative anemia management, tight hemostasis monitoring and treatment, is not only safer but also cost-effective. The objective of our paper is the brief report of some Patient Blood Management guidelines, and to promote and facilitate the application of the new approach.
- restrictive transfusion
- Patient Blood Management
- Open Access
Analysis of psycho-sociodemographic features in referred male psychiatric patients with suicidal ideation
Page range: 15 - 24
Suicide is defined by the World Health Organization as an act in which an individual ends his or her own life. Suicidal behavior is a major public health problem worldwide. According to the World Health Organization, the global suicide rate is 10,5/100.000 – 13,5/100.000 in case of men and 7,7/100 000 in case of women and is the 2nd most common cause of violent death. Suicide is a multifactorial phenomenon that can be approached from different perspectives. In Romania, this rate is similar to the global rate: in 2016, the estimated suicide rate was 10.4/100,000, well below the European average. Suicide rates vary by region, age group, gender, ethnicity, and registration of mortality statistics. The aim of the present study is to investigate the psycho-socio-demographic indicators of a cohort of patients with suicidal thoughts emergency referred to a particular psychiatric ward in one year. In our research, we performed a case-control, analytical, randomized, observational study at the Clinical Hospital of Neurology and Psychiatry Brasov among adult psychiatric patients admitted during 2014. The following data on patients were processed: demographic data (age, gender, place of residence), psychosocial data (social background, marital status, education), chronic somatic comorbidities, family history of psychiatric illness, pre-existing psychiatric illnesses, previous suicide attempts and their characteristics. The risk of suicide was assessed by the Modified Scale for Suicide Ideation - Miller et al. Questionnaire and distinguished 3 categories. In our sample of 77 cases we identified 14 patients with low suicide risk, 17 with moderate risk and 46 with high suicide risk. The focus of our study was on suicidal behavior. Suicide attempt, as a complex clinical problem with a waste complexity of ethiology, has high demands on psychiatric care. Being familiar with the different psycho-socio-demographic profiles by gender is proved to be a useful tool in both “screening” and in subsequent case management. These principles can facilitate decision-making, can increase adherence to treatment, and reduce the risk of repetitive attempts.
- sociodemographic parameters
- psychiatric background
- risk factors
- Open Access
Comments on the Hungarian pharmacopoeias in the 19th century
Page range: 25 - 33
Before 150 years the first Hungarian pharmacopoeia was compiled in 1871 as a result of nearly one century of national efforts. The first four editions were published in two languages, Hungarian and Latin. The second edition (1888) became better than the first one showing significant progress mainly in terms of speciality language.
Based on the first edition Prof. Kálmán Balogh, medical doctor, published an encyclopaedic commentary, which is an unparalleled source-work of the contemporary Hungarian pharmacological literature.
Geyza Karlovszky and Lajos Winkler issued a pocket edition (“Pocket Commentary”) based on the chemistry articles of the second edition of the pharmacopoeia, which became an important practical handbook of pharmacist education.
- Hungarian pharmacopoeia commentary pocket edition
- Open Access
The 150th anniversary of the Hungarian Pharmacopoiea – the role of Transsylvanian-born professionals. The challenges of the third millennium
Page range: 34 - 44
Two editions of the epoch-making first Hungarian pharmacopoeia (1871, 1888) were published in the 19th century. In the 20th century, this was followed by five more editions of the National Pharmacopoeia.
There were many prominent Transylvanian specialists among the co-workers of these publications (III. - VII., 1909-1986) Lajos Dávid, senior dr. Béla Issekutz, dr.Zsigmond Jakabházy, junior dr. Miklós Jancsó, László Kovács, Dénes Kőszegi, István Novák, Tibor Széki, Lajos Winkler representing almost all fields of pharmacology and pharmacy. Their role in the field of Hungarian medical and pharmacist training, education and organization of scientific research proved to be perpetual.
On the 150th anniversary of the publication of the first Hungarian pharmacopoeia, with this study we pay tribute to the memory of these outstanding scientists and their endeavour to create lasting values.
- Hungarian pharmacopoeia transsylvanian co-workers challenges
- Open Access
The role of bioinformatic analysis in the early diagnosis of hereditary fructose intolerance
Page range: 45 - 50
Introduction: The importance of early screening for congenital metabolic diseases is well illustrated by hereditary fructose intolerance (HFI), in which the enzyme aldolase B is not synthesized normally in the organism due to a mutation in the ALDOB (9q31.1) gene, and so the breakdown of fructose- 1-phosphate is inadequate. Early diagnosis is essential in the selection of appropriate treatment, as soon as possible. Otherwise, constant intake of fructose into the body can lead to worsening of symptoms and liver damage, which can finally lead to death. Objective: The aim of our research is to facilitate the screening of hereditary fructose intolerance, thus making possible the selection of the correct treatment as soon as possible. For this purpose, we used bioinformatics and the help of an application we made. Methods: Bioinformatic analysis is designed to facilitate the comparison of the patient’s gene obtained by chromosomal sequencing with the nucleotide sequence of the healthy gene. The program we created can recognize and compare the sequence of the patient’s ALDOB gene with the normal one. In a further step, the program can create the mRNA of the introduced gene, and from this, the structure of the protein encoded by the tested gene. Results: The program written in C# can recognize the ALDOB gene introduced in FASTA format, and in case of any differences, it determines the exact positions these can be found, and the type of nucleotides that differ from the normal ones in the introduced sequence. Conclusion: Bioinformatic processing provides a reliable and quick solution for early screening of HFI, since the necessary genetic sampling can be done even on the first week after birth, thus contributing to the establishment of correct treatment. This could also reduce the frequency of complications of patients with HFI and the number of deaths recorded mainly in infants.
- örökletes fruktóz-intolerancia
- aldoláz B
- szekvencia összehasonlítás
- Open Access
Cerebral microbleeds in a young patient – case presentation with rare disease association and literature review
Page range: 51 - 60
During the coronavirus pandemic neurology departments were forced to treat diseases that had hitherto been treated by other specialities. In our case presentation, we describe an unusual association of two diseases that raised interesting questions regarding differential diagnostics and has not yet been presented in the literature.
A 34-year-old male patient was admitted to the neurology department with an urgent referral because of impaired speech comprehension and expression upon awakening. He had a history of anticoagulant therapy for thrombosis of the posterior tibial artery, discontinued after two weeks. Physical examination revealed a 1 cm diameter painful lump in the subcutis of his right thigh and a systolic murmur over the mitral and aortic valves. Nonenhanced head CT showed a small hemorrhage near the occipital horn of the left ventricle, which could not explain the mixed aphasia. In addition, the SWAN MRI sequence showed supra- and infratentorial microbleeds, suggesting cavernomatosis, which was confirmed by the detection of another typical popcorn-like bleeding cavernoma on repeated MRI examination. Due to the heart murmurs and positive inflammatory markers, a detailed cardiac examination was warranted, confirming infective endocarditis caused by Streptococcus gordonii. Due to COVID-19-related regulations the patient couldn’t be transferred to the Department of Cardiology or Infectious Diseases, thus his treatment and follow-up was carried out at the Department of Neurology. Following targeted antibiotic treatment the patient’s symptoms resolved and he underwent successful cardiac surgery 7 weeks after his discharge in a symptom-free state.
The peculiarity of the case lies in the fact that the clinical picture and course of the disease, consistent with the diagnosis of infective endocarditis suggested cerebral septic emboli with microbleeds, but cerebral cavernomatosis was confirmed by brain imaging.
- cerebral cavernomatosis
- cerebral microbleeds
- Streptococcus gordonii
- Open Access
Dr. Hugonnai Vilma, the first Hungarian woman with medical diploma
Page range: 61 - 62
On the occasion of her death a hundred years ago, this commemoration presents the bibliography of the first Hungarian woman. Hugonnai Vilma obtained the medical degree in Zurich, which was accredited only after eighteen years. She is an example of giving help and care for those in need.
- medical diploma
- equality of women
- Open Access
Diversity of root canal morphology of maxillary first molars
Page range: 63 - 69
Introduction: The morphological characteristics of root canals may show divergent results for different populations. The precise knowledge of the tooth anatomy has a great importance from the point-of-view of the endodontic treatment. The aim of the present study is to map the root canal morphology and anatomical variations of the maxillary first molars on a local population, as well as the study of the possible communications between the canals.
Material and method: CBCT images were evaluated during the study using the Ez3D Plus – 3D Imaging Dental Software. Teeth sections were examined in three directions: axial, saggittal and coronal. In case of maxillary first molars with four root canals the presence of an isthmus was evaluated between the two mesiobuccal root canals, on transversal sections.
Results: In 23.72% of the cases three root canals were found, while in 76.27% of the cases four root canals were found. No statistically significant differences were found between genders. Among the mesiobuccal root canals the communication was found mostly in the middle third and this was extended to the apical third.
Conclusions: Since the communication between the two mesiobuccal root canals is present in most of the cases, the clinicians have to be aware of this in order to achieve a successful therapy. In the majority of the cases the four root canal morphological variation is more freqvent than the three canal variation, but with aging this freqvency is reduced.
- maxillary first molar
- mesiobuccal root canal