Cushing's syndrome in pregnancy: a case report and mini review of the literature.

Adrenal diseases in pregnant women are diagnosed relatively rarely. The main cause of hypercortisolemia during pregnancy is Cushing's syndrome related to adrenal adenoma. It is important to diagnose Cushing's syndrome in pregnant women because it can lead to significant maternal and foetal complications and morbidity. However, due to physiological endocrine changes and symptoms in pregnant women the diagnosis of this disorder can be a challenge. One current case describes a 38-year-old pregnant woman with hypertension, oedema and an adrenal tumour. At the beginning, Conn syndrome was suspected, but after careful analysis Cushing's syndrome (with an adenoma of the right adrenal gland) was diagnosed. After delivery and 5 weeks of pharmacological treatment the patient underwent right side adrenalectomy by laparoscopy.

Subspecialisation in Emergency Radiology: Proposal for a harmonised European curriculum.

Introduction: Radiology plays a crucial role in the emergency care setting by delivering early and precise diagnoses under pressure of time, right at the beginning of patient treatment. Although there is a need for postgraduate education in emergency radiology, most of the national bodies responsible do not offer it in a uniform fashion and a general proof of qualification is missing in Europe. Therefore, the European Society of Radiology (ESR) has founded the (Sub-)Society of Emergency Radiology (ESER), prompting them to develop a European curriculum. This trend, which is currently also encouraged in many other non-radiological specialties which demand the highest professional qualifications, often lacks expertise in medical education. Goals: The goal of this article is the general description of the curricular planning process for a European postgraduate subspecialisation programme, using the example of Emergency Radiology (European Diploma in Emergency Radiology, EDER), including the utilisation of TOOLS and recommendations derived from comparable projects. Project description: The project was divided into partial steps: the timeline displayed in a GANTT chart, and tasks and responsibilities assigned in a RASCI matrix. The curriculum was iteratively developed using the KERN approach and steps were prioritised using the PARETO principle. Furthermore, the following TOOLS were used: limitations and needs assessment, SWOT analysis, formulating learning objectives and categorising them after MILLER and SCLO, and using BLOOM's taxonomy for cognitive learning objectives and operationalising them according to MAGER. Psychomotoric and affective learning objectives were assigned to CANMEDS roles, grouped by topic using CLUSTERING, and then mapped by MATRIX analysis to appropriate learning and evaluation methods. Striving for continuous improvement, the curriculum was finally embedded in curricular quality management. Results: The standardisation of the EDER access, considering the different national conditions, the minimisation of European learners' attendance phases, restricting expenses by best possible use of existing structures, respecting the requirements and retaining the support of the European umbrella society ESR, finishing the project by a specific deadline and the demands of continuous improvement were particular challenges. A curriculum with the eligibility of five years' speciality training in general radiology has evolved on schedule. The subspeciality training lasts at least one year and is divided into webinars, workshops during congresses (e.g. the annual ESR and ESER congresses) and one year practical training at the individual learner's corresponding local hospitals, which adhere to a catalogue of requirements, comparable to national educational policies. The curriculum is completed by passing a written and oral exam (diploma) and re-accreditation every five years. Conclusions: Despite complex requirements, the TOOLS utilised allowed an almost seamless, resource-minimised, professional, location-independent distributed development of a European subspeciality curriculum within one year. The definitive implementation is still due. If any deviations from the draft presented should become necessary in the future, the embedment in the curricular quality management will lead to a redirection in the right way and, furthermore, secure a continuous improvement in the best way possible.

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.

The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impaired synthesis of a growth hormone (GH) and one or more concurrent pituitary hormones (i.e. LH, FSH, TSH, PRL). Manifestation of the disorder may vary due to various mutation impacts on the final gene products or an influence of environmental factors during pituitary organogenesis. We describe the clinical and molecular characteristics of two brothers aged 47 and 39 years presenting an uncommon manifestation of congenital hypopituitarism. Sequencing of the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes was performed to confirm the genetic origin of the disorder. A compound heterozygosity in the PROP1 gene has been identified for both probands. The first change represents a mutational hot spot (c.150delA, p.R53fsX164), whereas the second is a novel alteration (p.R112X) that leads to protein disruption. Based on precise genetic diagnosis, an in silico prediction of a p.R112X mutation on protein architecture was performed. The resulting clinical phenotype was surprisingly distinct compared to most patients with genetic alterations in PROP1 reported in the current literature. This may be caused by a residual activity of a newly identified p.R112X protein that preserves over 70 % of the homeodomain structure. This examination may confirm a key role of a DNA-binding homeodomain in maintaining PROP1 functionality and suggests a conceivable explanation of an unusual phenotype.

[Primary chylopericardium. Diagnosis and therapy]. / Pierwotne chylopericardium. Diagnostyka i terapia.

Authors presented the first 3 described in Polish literature patients with primary chylopericardium. 2 of them underwent surgery. Literature review was performed based on presented till now 44 cases with this rare disease. Causes, diagnostics and therapy methods of chylopericardium were discussed especially emphasizing significance of the operation based on pericardium fenestration and supradiaphragmatic thoracic duct ligation.

[Transient patency loss of the internal carotid artery in a young patient]. / Przejsciowa niedroznosc tetnicy szyjnej wewnetrznej u mlodej osoby.

Ischaemic stroke has been observed more rarely among young people in comparison to old adults. The causes of ischaemic stroke among young adults are numerous. One of them is occlusion of internal carotid artery (ICA). The aetiology of the occlusion is different from arteriosclerotic disorders. Within the last few years the authors have paid much attention to the fact that spontaneous dissection is not such a rare cause of ICA occlusion. In many cases (60-70%) of dissection recanalization and benign outcome occur. Angiography has been considered as a gold standard in establishing the diagnosis. We described a young, 16-year-old patient with ischaemic stroke. The cause occlusion of ICA, probably was dissection. The diagnosis was made by angiography MR. In our patient follow-up angiography MR demonstrated recanalisation. The outcome of the stroke was benign and hemiplegia reversed.

[Diagnostic value of computer tomography of paranasal sinuses in qualifying for functional endoscopic sinus surgery (FESS)]. / Wartosc diagnostyczna tomografii komputerowej zatok przynosowych w kwalifikacji do operacii czynnosciowych zatok.

Functional endoscopic sinus surgery (FESS) introduced in the recent years by Messerklinger, Stammberger and Kennedy gained undisputable reputation as method of choice in treatment of nose and nasal sinus diseases. The introduction of this method was possible, among others, due to precise radiological diagnostics (CT). Traditional radiological examinations of nasal sinus do not allow for detailed diagnostics and analysis of anatomic anomalies such as: dehiscention in vicinity of carotic artery or ophtalmic nerve which have basic significance while establishing surgical risk. The paper presents 20 cases of nasal sinus CT of patients qualified for functional endoscopic surgery comparative analysis with traditional radiograms were performed.

Gray matter volume in relation to cardio-vascular stiffness.

BACKGROUND: Hemodynamic disturbances are associated with aging as well as the chronic process of left ventricular and arterial stiffening. This process can influence gray matter volume and thereby contribute to brain atrophy. We performed a comprehensive assessment of left ventricular and arterial function as well as central hemodynamics. These data were correlated with gray matter volume (GMV) as evaluated by magnetic resonance imaging (MRI). METHODS: GMV and aortic stiffness were estimated using MRI. Left ventricular end-systolic elastance or stiffness (Ees), arterial elastance (Ea) and total arterial compliance (TAC) were determined by echocardiography. Central hemodynamics were assessed using pulse wave analysis. RESULTS: Seventy-five healthy subjects (42 women, 33 men, mean age of 58 years) were recruited. The clinical analyses showed that GMV correlates significantly and inversely with age (r=-0.37, P=0.001), end-systolic LV stiffness (r=-0.39, P=0.0009), augmentation pressure (r=-0.48, P<0.0001), arterial elastance (r=-0.27, P=0.02) and aortic stiffness (r=-0.23, P=0.04), as determined by aortic pulse wave velocity (aPWV). GMV correlated significantly with total arterial compliance (r=0.23, P=0.04). Stepwise forward multiple regression analysis revealed that 35% of variance (P<0.0001) in GMV is attributed to aPWV, Ees and AP. CONCLUSIONS: Left ventricular end-systolic stiffness, augmentation of central arterial pressure and aortic stiffness are associated independently and negatively with GMV. These associations suggested that brain atrophy is influenced by hemodynamic factors.