Marek Stajgis

Objectives: The aim of this study was to assess the size of the corpus callosum in members of Mensa International, which is the world’s largest and oldest high-intelligence quotient (IQ) society. Methods: We performed T2-weighted magnetic resonance imaging (Repetition Time, TR = 3200 ms, Time of Echo, TE = 409 ms) to examine the brain of members of Mensa International (Polish national group) in order to assess the size of the corpus callosum. Results from 113 male MENSA members and 96 controls in the age range of 21–40 years were analyzed. Results: The comparative analysis showed that the mean length of the corpus callosum and the thickness of the isthmus were significantly greater in the Mensa members compared to the control groups. A statistically significant difference was also identified in the largest linear dimension of the brain from the frontal lobe to the occipital lobe. The mean corpus callosum cross-sectional area and its ratio to the brain area were significantly greater in the Mensa members. Conclusions: The results show that the dimensions (linear measures and midsagittal cross-sectional surface area) of the corpus callosum were significantly greater in the group of Mensa members than in the controls.

Asymetria półkul mózgu jest zjawiskiem fizjologicznym, a dominacja jednej ze stron, zwłaszcza czynnościowa, jest szczególnie wyraźna w sferze funkcji poznawczych. W odróżnieniu do fizjologicznej, w patologicznej nierówności półkul mózgowych występują znaczne różnice w budowie anatomicznej i histologicznej oraz pojawiają się objawy takie jak niedowłady, napady padaczkowe, zaburzenia funkcji poznawczych czy zaburzenia ruchowe. W artykule przedstawiono wybrane zespoły powiązane z asymetrią półkul mózgu, dokonano klasyfikacji ze względu na etiologię oraz przebieg (na postępujące i niepostępujące), przedstawiono ich kliniczną oraz radiologiczną charakterystykę.

Background: Ursodeoxycholic acid (UDCA) supplementation is recommended for cystic fibrosis (CF) patients with associated liver disease. However, its effect on fat digestion and absorption is not known. Materials and methods: In 23 patients with mild liver involvement, a ¹³C-mixed triglyceride breath test was performed on UDCA supplementation (with and without pancreatic enzymes – standard and increased dose) and after 1 month of UDCA withdrawal. Cumulative percentage dose recovery [CPDR; median (interquartile range)] has been considered to reflect lipid digestion and absorption. Results: The enzyme supplementation resulted in a significant CPDR improvement [0% (0–0) vs. 4.6% (0.4–6.0); P13C-mixed triglyceride breath test results and lipase dose less than 3000 U/g of fat, higher CPDR values [8.6% (5.6–12.7); PP<0.000031) fat digestion and absorption [2.9% (0.7–5.8)]. Conclusion: UDCA supplementation seems to enhance lipid digestion and absorption in pancreatic insufficient CF patients with mild liver involvement. This finding points toward the potential impact of UDCA supplementation on nutritional status in CF patients with liver disease and underscores the often overlooked role of factors other than pancreatic enzymes on digestion and absorption of fats in CF.

The role of autoimmunization in the pathogenesis of pituitary disorders is poorly understood. The presence of pituitary autoantibodies (APA) has been detected in various pituitary disorders. Their role, however, remains elusive. Childhood-onset combined pituitary hormone deficiency (CPHD) may be caused by environmental or genetic factors. In some of patients, causes of the disease remain unclear and contributions of autoimmune processes have been postulated. The aim of this study was to identify the microsomes-derived pituitary antigens (MPA) as potential immunogenic autoantigens in patients with hypopituitarism, therefore 62 CPHD patients, 100 healthy controls and five autoimmune polyglandular syndrome type II (APS II) patients were included in the study. The clinical evaluation included hormonal tests and magnetic resonance imaging of the pituitary. The sources of MPA were pituitary glands taken from autopsies. Isolated MPA were then separated on SDS-PAGE gel and incubated with sera obtained from patients and controls. Microsomal APA were detected using Western blot and radioimmunological method. In all CPHD and APS II patients and in 9 % individuals from control group marked immunoreactivity was detected against MPA. Antibodies showed high affinity to 67, 60, 50 and 36 kDa MPAs. Since the identified autoantigens were of unknown nature, an in silico exploration of UniProt database was applied and indicated their possible relationship with chaperones, golgins and already known autoantigens like GAD67. Reactivity against MPA indicates that these proteins certainly play a role in the processes undergoing within pituitary of CPHD patients. The identification and further detailed studies on their role in the pathogenesis of CPHD should be continued.

Introduction : Objective assessment of Crohn’s disease (CD) activity in patients treated with anti-tumour necrosis factor (anti-TNF) antibodies is crucial for the prediction of its long-term results. Mucosal healing estimated endoscopically has a strong predictive value; however, only combined...

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.

Background In addition to ultrasound, magnetic resonance imaging (MRI) is considered a suitable, non-invasive technique to assess the type and extent of vascular malformations. The distinction between low- and high-flow lesions is crucial because it determines appropriate patient treatment. Purpose To distinguish high-flow from low-flow lesions on the basis of the enhancement pattern on MIP images acquired from dynamic time-resolved MR angiography (MRA) and compare it with previously described MR-based methods. Material and Methods We examined 25 consecutive patients with previously diagnosed vascular malformations. Next, each malformation was classified as “high-flow” or “low-flow” using the following criteria: (i) findings on T1-weighted (T1W) and T2-weighted (T2W) imaging (signal voids, signal intensity); (ii) the time interval between the start of arterial enhancement and the onset of lesion enhancement (artery–lesion time); (iii) the time of maximum lesion enhancement; and (iv) analysis of the slope of the enhancement curve. Results Of the 25 patients, seven had high-flow and 18 had low-flow malformations. Signal voids on spin-echo T1W images were observed only in four of seven high-flow malformations and in two of 18 low-flow malformations. Analysis of signal intensity on T2W images showed increased signal intensity in 17 of 18 low-flow malformations, and in two of seven high-flow lesions. Calculation of the artery–lesion time, maximum enhancement time, and slope revealed significant differences between the high- and low-flow groups. Conclusion In conclusion, the slope of the enhancement curve appears to be useful in distinguishing between high- and low-flow vascular malformations. Standardization of MR image evaluation criteria is essential.

In rare cases of differentiated thyroid carcinoma (DTC), radioiodine treatment is no longer effective due to cell dedifferentiation. Targeting somatostatin receptors in DTC cells by radiolabelled somatostatin analogues could provide an alternative therapy option. The aim of this study was to evaluate safety and efficacy of peptide receptor radionuclide therapy (PRRT) in patients with advanced, non-iodine avid DTC. Eleven patients aged 47–81 years (median: 65 years) with a history of several courses of radioiodine therapy, increasing thyroglobulin (Tg) and negative whole body scan, were qualified to the study. After confirming receptor expression by somatostatin receptor scintigraphy, PRRT with yttrium-90 labelled analogue was initiated. Fractionated treatment protocol was used with four doses of ⁹⁰Y-DOTA-TOC in 12-week intervals. Activity of each dose was 3.7 GBq (100 mCi). Of 11 patients, 5 died before receiving the fourth course of PRRT. In the remaining six patients, morphological response, evaluated 3 months after the last course using RECIST criteria showed partial remission (PR) in one patient, stable disease (SD) in two patients and progressive disease (PD) in three patients. Biochemical response based on Tg measurements before and after PRRT showed PR in one patient, SD in four patients and PD in one patient. Median survival was 21 months from the first course of PRRT. Only minor and transient hematological toxicity was observed in some patients. We conclude that PRRT is generally well-tolerated and may be a valuable option for some patients with radioiodine-refractory DTC.