Cushing's syndrome is a rare disease in the paediatric age group. Adrenocortical carcinomas (ACC) constitute the most common cause of Cushing's syndrome between 1 and 5 years of age. Often, ...adrenocortical carcinomas co-secrete other hormones such as androgens (testosterone), deoxy-corticosterone (DOCA), or 17-hydroxy-progesterone 17(OH)P in addition to cortisol. This may manifest with symptoms and signs of precocious puberty along with Cushing's syndrome. It is rare for a benign adrenocortical adenoma to co-secrete androgens and other hormones in addition to cortisol. Differentiation between adenoma and carcinoma is difficult in all aspects: clinical, radiological, and histopathological. Here, we describe the case of a 2.5-year-old male child who presented with Cushing's syndrome and virilization. Although we suspected ACC clinically, the radiological and histopathological findings were suggestive of benign adrenocortical adenoma. Our case represents the diagnostic challenge that exists in paediatric adrenocortical tumours.
Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal ...profiles.
We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene.
Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns' genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.
Sixteen early and middle Albian bivalve species, belonging to fourteen genera, eleven families and seven orders, and one brachiopod species are systematically described from the Mitrovčić section ...near Topola (Oplenac Hill), Vardar Zone of central Serbia. Four bivalve species: Acesta subrigida (Roemer, 1836), Acesta cf. dorbignyana (Mathéron, 1843), Neithea (Neithea) sexcostata (S. Woodward, 1833), “Cardium” cottaldinum d'Orbigny, 1844, and one terebratulide species, Praelongithyris rogeri Gaspard, 1974 are recorded from the lower and middle Albian rocks of central Serbia for the first time. The section comprises reddish ferruginous calcareous sandstones that are assigned to the lower Albian as indicated by the presence of the ammonite Douvilleiceras mammillatum (Schlotheim), while yellowish sandy wackestones/packstones located below the late Albian Mortoniceras (M.) inflatum (J. Sowerby), are middle Albian in age. Most of the identified bivalve taxa have a Tethyan affinity and seem to be closest to faunas from western and eastern Europe. This indicates that these regions were close to Serbia during the early–middle Albian. The occurrences of some of these Tethyan bivalves at the northern and western Pacific coast of South America and southern coast of North America is explained by dispersal through the opening of the North Atlantic Ocean during the Albian (Proto-North Atlantic Ocean). Meanwhile, the occurrence of some other Albian taxa along the eastern coast of South America (South Atlantic) was probably a result of the opening of the equatorial Atlantic gateway during that time. The faunas are not endemic, indicating that the larvae were long-lived and possessed a high dispersal potential, facilitated by seaways during the Albian.
The hyperosmolar hyperglycaemic state (HHS) is a very severe condition characterised by hyperosmolality, hyperglycaemia and dehydration without significant ketosis. The article presents the case of a ...14.5-year-old cachectic patient with diagnosed HHS. Appropriate treatment per the ISPAD Guidelines was implemented. After metabolic stabilisation was achieved, the patient was transferred for further treatment to the Pediatric Gastroenterology Department due to her life-threatening cachexia. Normal glucose levels were observed during hospitalisation and the patient required no further insulin supplementation. Unfortunately, two months after discharge from hospital, the patient suffered sudden death at home. The patient did not live until full diabetological diagnostics could be performed. The transient hyperglycaemia may have been caused by a very early stage of type 1 diabetes (pre-diabetes), malnutrition-related diabetes mellitus (MRDM) or stress-induced hyperglycaemia (SIH). The case demonstrates that HHS can develop not only secondary to diabetes, but also be a severe complication of transient carbohydrate metabolism disorders in the course of cachexia.
A 16-years old boy with diagnosis of Grave's disease was treated with methimazole for one year before radical total thyroidectomy treatment due to persistence of clinical hormonal hyperthyroidism. ...Histological analysis revealed the presence of a papillary microcarcinoma. The management of Grave's disease in pediatric age is still under discussion. Therefore, close monitoring of the disease is required, as well as case-by-case tailored decision on how to manage treatment and when to perform the radical one, taking into account the association of Grave's disease with differentiated thyroid cancer in adults and the higher malignancy of thyroid cancer in childhood.
Silver-Russell syndrome (SRS) is a rare condition, affects one in 100,000 births. Turner syndrome (TS) is a chromosomal disorder, with an incidence of one in 2,500 females. Patient with SRS and ...mosaic 45, X/46,X,del(X) karyotypes can have a wide range of phenotypic manifestations. The aim of this article is to present a case report of a patient with an extremely rare and not reported so far genetically confirmed diagnose of Silver-Russell syndrome and Turner syndrome.
The patient is a 9-years old girl who had a karyotype of 45,X on prenatal amniocytes. After delivery she was small for gestational age and her phenotype was quite consistent with Russell-Silver syndrome: characteristic dimorphic facial skeleton with a triangular face with prominent forehead, thin nose, hypotonia and hemihyperthrophy. The girl was admitted to hospital due to short stature and deep body weight deficiency. Skin fibroblast and DNA analysis showed mosaic karyotype 45,X14/46,X,del(X)(p21.2) and hypomethylation of a gene H19 located on chromosome 11p15. At present the patient is treated with growth hormone in our clinic with good therapeutic results.
The diagnosis of one genetic disorder does not rule out the possibility of a second genetic disease. Early diagnosis of coexistence of two different genetic syndromes, although very difficult, may help with quickly, appropriate therapy for patients and prevent them from developing serious complications.
Coronavirus disease 2019 (COVID-19) can be diagnosed as occupational disease by an occupational health physician (OHP), if supported by relevant work-related and medical documentation. The aim of ...this study was to analyse such documentation submitted by Croatian healthcare workers (HCWs) and discuss its relevance in view of European and Croatian guidelines. The study included 100 Croatian HCWs who were SARS-CoV-2-positive and requested that their infection be diagnosed as occupational disease by their OHPs from 1 May 2020 to 10 March 2021. As participants they were asked to fill out our online Occupational COVID-19 in Healthcare Workers Questionnaire. For the purpose of this study we analysed answers about the type of close contact at the workplace, COVID-19 symptoms, and enclosed work-related (job description, employer statement about exposure to SARS-CoV-2) and medical documentation (positive SARS-CoV-2 polymerase chain reaction test and patient history confirming the diagnosis of COVID-19). Most participants were working in hospitals (N=95), mostly nurses (N=75), who became infected by a patient (N=68) or colleague (N=31), and had at least one COVID-19 symptom (N=87). Eighty participants did not enclose obligatory documents, 41 of whom failed to submit job description and 31 both job description and employer statement. These findings confirm that the major risk of occupational COVID-19 in HCWs is close contact with patients and colleagues, and points out the need for better cooperation between OHPs, occupational safety experts, employers, and diseased workers.
EXPERIENCE OF MEDIATORS IN THE FAMILY MEDIATION PROCESS IN THE CASES OF VIOLENCE IN PARTNER RELATIONSHIPS ABSTRACT The paper presents the experience of mediators in the family mediation process in ...the cases of violence in partner relationships based on the results of a research conducted in seven social welfare centres in which twelve experts adequately trained for the implementation of family mediation participated. The aim of the research was to describe and analyse the experience of the mediators in the family mediation process with the partners who had experienced violence and to determine the possibility of its application in such cases. The qualitative approach was used, and the procedure of topic analysis was used. The research results show that the mediators point out some specific features of the management of the mediation process with the partners who have experienced violence with regard to the safety of the process, establishment of the balance of power and a constructive dialogue of the parties in mediation, which demands the mediators to apply certain techniques and skills. Additionally, the results of the research indicate that the mediators perceive the possibility to implement family mediation with the partners who have experienced violence and that, apart from the basic prerequisites for the implementation of mediation, they emphasise the necessity to recognise the specific prerequisites, such as the time distance from violence, the influence of violence on the victim, creation of safe conditions, good level of the mediators’ education and the application of some procedures which should be conducted in terms of the assessment of violence, safety and selection of the mediation model. Key words: family mediation, violence in partner relationships, experience of mediators, description of the mediation process, possibility to conduct family mediation.
Offshore drilling is an activity inherent to the oil and gas industry as it is essential for confirming the economic feasibility of hydrocarbon reservoirs. However, operational uncertainties and ...risks inherent to typical major accident hazards are associated with the performance of this activity, where blowouts are assumed to be one of the major contributors to risk in offshore drilling. This paper presents an accident precursor risk model for offshore drilling blowouts that integrates the blowout basic causes, safety critical barriers and elements, risk influencing factors (RIFs) including human and organisational factors (HOFs), and operational performance indicators (OPIs). The method, which was adopted to design the model and allow its customisation for reflecting the characteristics of any drilling rig, well and operation is also described and demonstrated using a theoretical example. The model is hybrid, as it combines bow-tie diagram (fault tree and event tree) with directed acyclic graphs (DAGs), to account for the effect of the RIF on the performance of safety barriers through the direct observation of pre-defined OPI.
Abbreviations
BHA
bottom hole assembly
BOP
blowout preventer
BORA
barrier and operational risk analysis
DAG
directed acyclic graph
DP
dynamically positioned
ECD
equivalent circulating density
G&G
geological and geophysical
HC
hydrocarbon
HOFs
human and organisational factors
HP/HT
high pressure/high temperature
HSE
health, safety and environment
IADC
International Association of Drilling Contractors
IMO
International Maritime Organisation
IRPA
individual risk per annum
ISM
International Safety Management Code
ISO
International Standard Organisation
LMRP
lower marine riser package
LWD
logging while drilling
MODUs
mobile offshore drilling units
OPIs
operational performance indicators
RIFs
risk influencing factors
ROP
rate of penetration
ROV
remote operated vehicle
RPM
rotation per minute
SINTEF
Stiftelsen for industriell og teknisk forskning or 'The Foundation for Scientific and Industrial Research'
TFs
technical factors
WOB
weight on bit
WOC
weight on cement
The aim of modern insulin therapy used in the treatment of type 1 diabetes mellitus is to mimic the physiological secretion of insulin in order to ensure stable normoglycemia while maintaining the ...greatest possible comfort of life for diabetic patients. New ultra-fast insulin analogs that can be administered immediately before a meal contribute to the improvement of postprandial glycemia and the quality of life of patients. We presented two cases illustrating the effectiveness and safety of the use of an ultra-fast-acting insulin analog in the treatment of postprandial hyperglycemia in children with type 1 diabetes.
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