IntroductonPrader-Willi syndrome (PWS) is a rare genetic disease caused by deletions or imprinting defects in the region 15q11-q13 leading to hypothalamic-pituitary dysfunction, hyperphagia with ...excessive weight gain and behavioral disorders. Obesity is a hallmark of PWS, with consequently high incidence of impaired glucose tolerance and type 2 diabetes (T2D), particularly after puberty. Liraglutide, glucagon-like peptide 1 (GLP-1) analog is efficient in treatment of T2D, but also exhibits positive effect on body weight reduction and appetite suppression.Case ReportWe present a 17-year-old girl with genetically confirmed diagnosis of PWS (46,XX, ish del (15)(q11q13)) who developed TD2 at the age15 years. She was never treated with growth hormone. Basal-bolus insulin therapy was introduced but despite good treatment adherence the optimal glycemic control was not achieved. She was also steadily gaining weight although efforts were made to limit caloric intake. At the age of 17 years her body weight was 140 kg (+4.66SD), height 157 cm (-1.63SD), BMI 56.8kg/m2 (+4.78SD). Diabetes metabolic control was unsatisfactory (HbA1c 7.7%).The treatment with liraglutide (Victoza) was introduced at dose 1.2 mg/day with gradual reduction and discontinuation of insulin therapy. Two months later, she lost 3.1 kg and her HbA1c level was 6.1%. She also reported reduced appetite. For the following 1.5 years her metabolic control was excellent (HbA1c below 6.5%), but after reaching nadir of 135.2 kg (BMI54.85 kg/m2) she started gaining weight again and currently weights 143.2 kg. No side effects of the treatment were noted during follow up.ConclusionGLP-1 analogs are effective in treatment of T2D in patients with PWS. However, the positive effect on the body weight, BMI and appetite regulation decreased over time. The literature data regarding use of GLP-1 analogs in patients with PWS are scarce, but they all report improved metabolic control of T2D. Nevertheless, there are conflicting results regarding body weight and BMI improvement. The treatment with GLP-1 analogs seems to be safe and effective option for therapy of T2D in PWS. Further studies are necessary to confirm preliminary results and establish the guidelines for use of GLP-1 agonists among PWS patients.
The involvement of the high-mobility group box 1 protein (HMGB1) in various autoimmune and inflammatory diseases has been documented; however, the role of this proinflammatory molecule in children ...with diabetes type 1 (T1DM) has not been addressed. The aim of this case-control study is to compare the serum level of HMGB1 in children with newly diagnosed T1DM (group 1) and a control group composed of healthy children.
This case-control study included 136 children: group 1 (n = 96) and a control group (n = 40). Measurements were taken from serum for the following: HMGB1, white blood cell count, C-reactive protein, glucose, haemoglobin A
, and
-cell autoantibodies (GADA-65, IA-2, ICA). HMGB1 was determined using enzyme-linked immunosorbent assay on a Labsystems iEMS Reader MF analyser (Labsystems Diagnostics Oy, Helsinki, Finland).
The level (median and interquartile range) of HMGB1 was statistically higher (p < 0.001) in children with T1DM: 8.7 (5.0-9.8) µg/l, in comparison with the control group: 1.0 (0.6-1.4) µg/l. No correlation was found between HMGB1 and HbA1c in group 1, or between HMGB1 and BMI. A statistically higher percentage of positive children for autoantibodies were present in group 1 compared to the control group (p ≤ 0.001). HMGB1 serum levels were also tested and the presence of autoantibodies, and none of those antibodies correlated with the level of HMGB1.
The higher level of HMGB1 in children with T1DM, compared to the control group, indicates that this proinflammatory molecule is a good candidate marker of inflammation in children with T1DM.
Saul Wilson syndrome (SWS) is a rare congenital syndrome characterized by a variety of symptoms, mostly skeletal changes. Saul and Wilson were the first to describe children with extremely short ...stature and craniofacial dysmorphism.
We present a case of a 15-years-old boy with clinical and radiological characteristics of SWS. Genetic examination identified a pathogenic heterozygous variant in the
gene. Magnetic resonance imaging revealed a critical stenosis of the cranio-cervical junction (CCJ) which required surgical treatment to attempt sufficient neurological decompression. The patient underwent decompression of CCJ under general anesthesia. There was no significant radiological and clinical improvement during the postoperative period.
SWS is presented as an extremely rare congenital disease in children. The clinical condition of our patient confined surgical possibilities, therefore further treatment in such patients should be appropriately evaluated.
Common complex diseases are influenced by both genetic and environmental factors. Many genetic factors overlap between various autoimmune diseases. The aim of the present study is to determine ...whether four genetic variants known to be risk variants for several autoimmune diseases could be associated with an increased susceptibility to type 1 diabetes mellitus.
We genotyped four genetic variants (rs2358817, rs1049550, rs6679356, rs9865818) within VTCN1, ANXA11, IL12RB2 and LPP genes respectively, in 265 T1DM family trios in Croatian population. We did not detect association of these polymorphisms with T1DM. However, quantitative transmission disequilibrium test (QTDT, orthogonal model) revealed a significant association between the age of onset of T1DM and IL12RB2 rs6679356 variant. An earlier onset of T1DM was associated with the rs6679356 minor dominant allele C (p = 0.005). The association remained significant even after the Bonferroni correction for multiple testing and permutation.
Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene), sarcoidosis (ANXA11 gene), primary biliary cirrhosis (IL12RB2 gene) and celiac disease (LPP gene) were not associated with type 1 diabetes in our dataset. Nevertheless, association of IL12RB2 rs6679356 polymorphism with the age of T1DM onset suggests that this gene plays a role in defining the time of disease onset.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Changes in nursing students' expectations of their clinical nursing faculty competences over the course of time are an insufficiently researched phenomenon.
To explore what competences BSc nursing ...students expect from their clinical faculties during their clinical training, and whether their expectations changed during their three-year studies. Furthermore, to survey factors which influenced their expectations and whether the fulfilment levels of their expectations influenced their feelings, learning, and behaviour.
A two-phase, mixed-methods design was used.
The Higher Nursing Education Institution in Osijek, Croatia, European Union.
A cohort of 34 BSc nursing students, who were followed over the course of their three-year studies.
In Phase I, in each year, prior to their clinical training, participants responded to the same modified Nursing Clinical Teacher Effectiveness Inventory questionnaire about their expectations of clinical faculties' competences (52 items representing six categories of competences). In Phase II, seven days after their graduation, participants wrote reflections on the aforementioned expectations during their studies.
The results show that Clinical faculties' evaluation of student was the category in which participants had the highest expectations in all three years. Results of Wilcoxon signed rank test indicate a significant increase of participants' expectations in all categories of clinical nursing faculties' competences during their study. Participants' reflections confirm these results and indicate that actual competences of clinical faculties and behaviour have the most significant effects on the change in these expectations. Participants reported that expectations, if fulfilled, facilitate their learning and motivation for better performance.
BSc nursing students' expectations of clinical nursing faculty competences represent an important concept, as they obviously determine the quality of faculty practice. Hence, they should be considered in the preparation, implementation, and evaluation phase of this vital part of nursing education.
•Students expect a high level of clinical faculties' competences.•These expectations are increasing with the years of study.•Clinical faculties' competences affect the change of students' expectations.•Fulfilled expectations facilitate students' learning and performance.
Background
The incidence of type 1 diabetes mellitus (T1DM) among children and adolescents increased during the last 50 yr. The T1DM incidence in Croatia was 8.87/100.000/yr over 1995–2003, with an ...annual increase of 9%, which placed Croatia among countries with moderate risk for T1DM.
Aim
To investigate incidence rates and trends of T1DM from 2004 to 2012 in 0 to 14‐yr‐old Croatian children, and to compare the results with previous studies in Croatia and other European countries.
Methods
T1DM crude incidence rates are estimated for the entire group and three subgroups: 0–4, 5–9, and 10–14 yr. Standardized incidence is calculated using the method of direct standardization according to World Health Organization (WHO) standard world population. The incidence rates by gender, age groups, seasonality, and calendar year, and their interactions were analyzed using Poisson regression model.
Results
A total of 1066 cases were ascertained over 2004–2012. The standardized incidence was 17.23/100.000/yr (95% CI: 16.19–18.26), with no significant differences in incidence rates or trends between boys and girls. Statistically significant annual increase of 5.87% (p < 0.001) was found for the whole group, and for the subgroups 5–9 yr (6.82%; p < 0.001) and 10–14 yr (7.47%; p < 0.001). In the youngest subgroup (0–4 yr), annual increase was lower (2.43%; p = 0338) and not statistically significant.
Conclusion
The incidence of childhood T1DM is increasing in Croatia, thus placing Croatia among countries with high risk for T1DM. The annual increment of 5.87% is considerably lower than 9.0% reported earlier, but still higher than the European average (3.9%). The increase in incidence ceased in youngest children.
INTRODUCTIONSaul Wilson syndrome (SWS) is a rare congenital syndrome characterized by a variety of symptoms, mostly skeletal changes. Saul and Wilson were the first to describe children with ...extremely short stature and craniofacial dysmorphism. CASE REPORTWe present a case of a 15-years-old boy with clinical and radiological characteristics of SWS. Genetic examination identified a pathogenic heterozygous variant in the COG4 gene. Magnetic resonance imaging revealed a critical stenosis of the cranio-cervical junction (CCJ) which required surgical treatment to attempt sufficient neurological decompression. The patient underwent decompression of CCJ under general anesthesia. There was no significant radiological and clinical improvement during the postoperative period. CONCLUSIONSSWS is presented as an extremely rare congenital disease in children. The clinical condition of our patient confined surgical possibilities, therefore further treatment in such patients should be appropriately evaluated.
We report a 11-year-old girl and two 14-year-old boys with Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In these patients, hypercortisolism is a consequence of ...autonomous cortisol secretion from adrenal glands and is ACTH-independent. Besides PPNAD, the girl had lentigines, spotty pigmentation on her bucal mucosa and lips and she also had schwannoma. One of the reported boys had prolactinoma. Considering this, those two patients fulfill the criteria for Carney complex which is a type of multiple endocrine neoplasia syndromes inherited in an autosomal dominant trait. The other boy had PPNAD but no other obvious signs of Carney complex were noticed. Family study didn't reveal any clinical or laboratory signs of Carney complex in our patients' first relatives. All of our patients underwent bilateral adrenalectomy (in one of the boys laparoscopic surgery was performed). Glucocorticoid and mineralocorticoid substitution has been started. Adrenal glands were macroscopically normal but pathohistological analysis confirmed the diagnosis of PPNAD.
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