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Novel insights into genetics and clinics of the HNF1A-MODY

Abstract

MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3). This gene is polymorphic and more than 1200 pathogenic and non-pathogenic HNF1A variants were described in its UTRs, exons and introns. For HNF1A-MODY, not just gene but also phenotype heterogeneity is typical. Although there are some clinical instructions, HNF1A-MODY patients often do not meet every diagnostic criteria or they are still misdiagnosed as type 1 and type 2 diabetics. There is a constant effort to find suitable biomarkers to help with in distinguishing of MODY3 from Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D). DNA sequencing is still necessary for unambiguous confirmation of clinical suspicion of MODY. NGS (Next Generation Sequencing) methods brought discoveries of multiple new gene variants and new instructions for their pathogenicity classification were required. The most actual problem is classification of variants with uncertain significance (VUS) which is a stumbling-block for clinical interpretation. Since MODY is a hereditary disease, DNA analysis of family members is helpful or even crucial. This review is updated summary about HNF1A-MODY genetics, pathophysiology, clinics functional studies and variant classification.

Open access
Nutrition challenges in polytrauma patients. New trends in energy expenditure measurements

Abstract

Patients hospitalized in Intensive Care Units (ICU) are in severe general condition and they need specialized care, rehabilitation and proper nutrition to improve their condition and recover as soon as possible. Therefore, it is very important that nutrition consists of all necessary elements that will cover their daily demand for nutrients. However, malnutrition among ICU patients is very common. According to statistics, up to 50% is malnourished. It enhances average length of stay, risk of infection, prolongs ventilator days, delays wound healing and translates into an increased hospital cost. It may end in multi-organ failure, what in consequence increases mortality. Polytrauma pa tients lost their energy because of intensified catabolism, due to neuroendocrine changes and inflammatory reactions, which may worsen already existing malnutrition.

Open access
Pharmacological therapies for acute respiratory distress syndrome

Abstract

Acute respiratory distress syndrome (ARDS) has no specific treatment, the only effective therapy currently being limited to minimizing potentially harmful ventilation and avoiding a positive fluid balance. These treatments could not be completely effective in severe disease and several measures must be undertaken simultaneously, including pharmacological therapies aimed at correcting the etiology or targeting the pathogenesis. In this review article we provide update on pharmacological therapies in ARDS, showing their effect on outcome in recent trials.

Open access
The prevalence of Beta Hemolytic Streptococcus in a Children’s Tertiary Care Hospital in Timisoara

Abstract

Background. Beta hemolytic streptococcus (BHS) represents a worldwide health problem because of the complications that can occur. Thus, it is important to identify the presence and type of BHS in time to start treatment if needed, avoiding the complications.

Aim. Our aim was to identify the prevalence of Beta Hemolytic Streptococcus in a Children’s Tertiary Care Hospital in Timisoara.

Methods. A cross-sectional study was conducted from April-June 2018 in Emergency Hospital for Children Timisoara. The study lot consists from 1100 children, ages between 0-18 years, which were not given, in the preceding two weeks, any antibiotics. We compared the study with two studies from different cities in Nepal, with the same subject as ours. Group A and Group C Streptococci were identified by beta hemolytic colonies, bacitracin sensitivity, catalase negativity test and latex agglutination test (Oxoid Streptococcal Grouping kit). ASO (Antistreptolysin O) test was also performed from serum samples, for patients with positive cultures. We also tested the antibiotic sensitivity to: Cefepime, Clindamycin, Erythromycin, Tetracycline.

Results. The prevalence of BHS (Beta Hemolytic Streptococcus), especially GABHS (Group A Beta Hemolytic Streptococcus) was 4%, in children from a tertiary care hospital in Timisoara, Romania; which is comparable to the findings of similar studies. In the first study, the prevalence of GABHS was 7.2%, and in the second study was 9%. The patients with positive cultures were also tested for ASO, 28 patients (52%) had high levels, while 26 (48%) had normal levels. On all positive patients an antibiogram was made and we observed that most of the isolates were sensitive to the antibiotics used. A few isolates in Group A were resistant.

Conclusions. Considering the limited data found on our subject, further epidemiological studies on streptococcal disease complex are needed.

Open access
Primary upper extremity deep vein thrombosis in a Caucasian woman

Abstract

Compared to deep vein thrombosis in the lower limbs, upper extremity deep vein thrombosis is uncommon and therefore much less explored or even neglected.

We present the case of a 40-year-old female working in the bakery industry, who was admitted for acute onset of upper limb oedema accompanied by pain and functional impairment, affirmative secondary to the sustained and intense effort of the dominant arm. The diagnosis was confirmed by Duplex Ultraso nography on the eighth day after the onset of symptoms. Since clinical examinations and laboratory work excluded any cause of secondary thrombosis, the diagnosis of primary thrombosis was established. The only possible cause of this episode was linked to the woman’s work. The trigger for the thrombotic event was represented most likely by strenuous physical activity with temporary obstruction of the thoracic outlet in the work field. Under anticoagulant treatment, the signs and symptoms gradually resolved. Unfortunately, at the one-year follow-up exam, the patient was diagnosed with post-thrombotic syndrome of the right, dominant arm.

Open access
Procedural Sedation and Analgesia in Adults - new trends in patients safety

Abstract

Sedation and analgesia may be needed for many interventional or diagnostic procedures, whose number has grown exponentially lately. The American Society of Anesthesiologists introduced the term “procedural sedation and analgesia” (PSA) and clarified the terminology, moderate sedation and Monitored Anesthesia Care. This review tries to present a nondissociative sedation classification, follow ing ASA guidelines as well as pre-procedural assessment and preparation, in order to choose the appropriate type and level of sedation, patient monitoring and agents, which are most commonly used for sedation and/or analgesia, along with their possible side effects. The paper also lists the possible complications associated with PSA and a few specific particularities of procedural sedation.

Open access
Refeeding syndrome relevance for critically ill patients

Abstract

Refeeding Syndrome (RFS) is a potential life-threatening complication of the nutritional therapy in the replenishment phase after period of starvation. This not very known syndrome may be a life-threatening metabolic condition due to rapid, inadequate nutritional support in malnourished catabolic patients. The intake of food and therefore the switch from a catabolic to an anabolic metabolism is most considered etiological mechanism. The main biochemical feature of RFS is hypophosphatemia and low levels of potassium and magnesium. Lack of vitamins, especially vitamin B1 or thiamine is often present and involves severe clinical complications.

Open access
Acute Oral Toxicity of Vetom 21.77 Based on Duddingtonia Flagrans in Broiler Chickens

Abstract

A 14-d study was undertaken to test the acute toxicity of a new preparation Vetom 21.77 based on the predacious fungus Duddingtonia flagrans. A total of 40 healthy 5-day-old broiler chickens (Hubbard F15, 100 ± 5 g), that had previously gone through a required 5-days adaptation to the environment, were orally dosed with the drug for 5 consecutive days at different doses, after which their health status was assessed daily up to the end of the experiment. According to the results, no substantial changes in the physiological state of the chickens were detected during the experiment. Internal organs weighing revealed no statistically significant differences between the groups, though weight coefficient values of internal organs of treated chickens slightly exceeded those of the control group. Some haematological parameters were significantly higher in the treatment group, without going beyond reference ranges. All chickens used in the experiment survived the study. The preparation has not produced any toxic effect even at a higher dose (4000 µL/kg bw/day). It is concluded that Vetom 21.77 pertains to preparations of IV toxicity class.

Open access
Acute Phase Proteins – As Indicators of Claw Diseases in Dairy Cattle

Abstract

The serum concentration of certain acute phase proteins significantly increases during various pathological conditions in cattle. The aim of this study was to determine the influence of claw disorders etiology on the concentrations of two major acute phase proteins in dairy cattle: haptoglobin (Hp) and serum amyloid protein A (SAA). Fifty dairy cows with claw pathology were included. Fourteen clinically healthy heifers served as controls. The animals were subdivided in 5 groups according to the pathological findings on their claws: 1. Heel horn erosion (HE), 2. Acute laminitis (AL), 3. Sole ulcer (SU), 4. Digital dermatitis (DD) and 5. White line separation (WLS). Hp and SAA concentrations were measured in serum samples using commercial ELISA kits. Higher concentrations of both Hp and SAA were found in the AL and SU groups (p<0.01) compared to the HE, DD and WLS and control groups. Dairy cows in the DD group had higher (p<0.05) Hp and SAA concentrations than the HE and WLS groups and the controls. The serum values between the HE, WLS and the control group did not differ significantly. The presented results indicate that the claw diseases are associated with a systemic acute phase response. Hp and SAA could be used as valuable biomarkers for early detection of claw diseases in dairy cows.

Open access