The analysis of renal artery cross-section area and kidney volume in computed tomography angiography.

BACKGROUND: The purpose of this study was to assess the relationship between renal artery cross-section area and kidney volume with consideration of anatomical variants of renal arteries, sexual dimorphism and lateralisation. MATERIALS AND METHODS: Two hundred and two patients, 104 women and 98 men, aged 57.3 ± 16 years were examined using computed tomography angiography (CTA) of abdominal aorta for various reasons. The cross-section areas of renal arteries were measured automatically with a vessel tracking programme and summed up on each side in case of the presence of additional renal arteries. The kidneys were measured manually. RESULTS: Additional renal arteries (ARA) were found in 68 (33.7%) patients. Fifty-three (77.9%) of them had one, 11 (16.2%) two and 4 (5.9%) three ARAs. Bilateral ARAs occurred in 10 cases (14.7% patients with ARA). Proximal branching of renal artery occurred in 36 (8.4%) renal arteries. The cross-section area of the largest renal artery depended on the number of ipsilateral renal arteries. Mean cross-section area of the main left renal artery was larger than on the right side (28.52 mm2 vs. 25.36 mm2, p < 0.01) in the whole analysed group. Strong sexual dimorphism in renal artery cross-section area was observed (p < 0.01) in favour of men (31.3 mm2 in men and 22.9 mm2 in women). Mean total renal artery cross-section area has positively correlated with kidney volume (p < 10-13) in both sexes with Pearson correlation value of 0.5. CONCLUSIONS: The cross-section area of renal arteries correlated positively with kidney volume in both sexes. Presence of ARAs does not influence the sum of cross-section areas of renal arteries. In case of a difference between left and right renal artery cross-section area with symmetrical kidneys, it is necessary to look for ARA.

Limited Long-Term Impact of Insect Venom Immunotherapy on the Micro-RNA Landscape in Whole Blood.

OBJECTIVE: To perform a genome-wide characterization of changes in microRNA (miRNA) expression during the course of venom immunotherapy (VIT). METHODS: miRNA was isolated from the whole-blood of 13 allergic patients and 14 controls, who experienced no allergic reaction upon stings by honeybees and wasps. We analyzed 2549 miRNAs from the whole blood of these patients prior to VIT and 12 months after the start of VIT. The results for differential expression obtained on a microarray platform were confirmed by quantitative real-time PCR. Out of the 13 patients, 8 had a negative allergic reaction with VIT, thus indicating that this approach was successful. RESULTS: By comparing time points before and 12 months after ultrarush VIT, correlation analysis and principal component analysis both indicated a limited effect of VIT on the overall miRNA expression pattern. Volcano plot analysis based on raw P values revealed few deregulated miRNAs, most of which were increasingly expressed after VIT as compared with before VIT. Based on the 50 most altered miRNAs, no clear clustering was observed before or after VIT. CONCLUSIONS: Our results indicate an overall reduced effect of VIT on the miRNA expression pattern in whole blood.

Diffusion tensor imaging findings in the multiple sclerosis patients and their relationships to various aspects of disability.

BACKGROUND: The aim of the study was to assess microstructural changes within strategic brain regions in multiple sclerosis (MS) patients, using diffusion tensor imaging (DTI), with regard to various aspects of disability. MATERIAL AND METHODS: The study comprised 50 patients with relapsing-remitting MS (37 women, 13 men, mean age 36.4 yrs) and 27 age- and sex-matched controls. Using DTI, fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values were obtained within corpus callosum (CC), both thalami (TH) and middle cerebellar peduncles (MCP). Disability was assessed using Expanded Disability Status Scale (EDSS), MS Functional Composite (MSFC), Symbol Digit Modalities Test (SDMT) and Fatigue Severity Scale (FSS). DTI indices were compared between the patients and controls and in the MS group - referred to disability measures. RESULTS: Significant decrease in FA and increase in ADC within CC and both TH were found in MS patients compared to the controls. DTI indices within CC and TH correlated significantly with SDMT score, and within TH and MCP - with MSFC manual dexterity measure. CONCLUSIONS: Changes in DTI measures in normal appearing white and grey matter in the MS patients indicate subtle alterations of the tissue integrity. An occult damage to the strategic brain regions may contribute to various aspects of disability due to MS.

Preoperative Computed Tomography Parameters and Deterioration of Remaining Kidney Function in Living Donors.

INTRODUCTION: After living kidney donation, a decrease of kidney function (described as estimated glomerular filtration rate [eGFR]) is observed in majority of donors. However, the loss is more significant in some patients without an explicable reason. The aim of this study was to identify quantitative parameters in computed tomography (CT) of the abdomen that would predict greater eGFR reduction after kidney removal. MATERIAL AND METHODS: One hundred and ten preoperative multiphase CT examinations of the abdomen of kidney donors were analyzed for the following renal parameters: cortex, parenchyma and pyramids volume, scarring thickness (low grade: <1 cm, high grade: >1 cm), cortical gaps, vascularisation, and cortex-to-aorta enhancement index (CAEI). The radiologic and biometric (eg, donor weight) parameters were correlated with eGFR (CKD-EPI formula) change between baseline and at discharge. RESULTS: Donor weight was correlated with a loss of eGFR (P < .001). Kidney volumetric parameters including renal cortex and parenchyma volume, as well as renal artery cross-section area were associated with donor weight (r = 0.50 P < .001 and r = 0.39 P < .001). CAEI was correlated with a loss of eGFR (P = .003) and was related to the donor's sex in favor of men. Forty-one (37%) donors had an additional renal artery, which did not influence kidney function. No influence of cortical gaps or scarring on eGFR was observed. CONCLUSIONS: CAEI may be a helpful tool in predicting greater short-term kidney function decrease after living kidney donation. Male sex is the strongest risk factor of greater eGFR loss after kidney donation.

The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer.

AIM: Colorectal cancer (CRC) is one of the most common cancers worldwide and, although the majority of cases are sporadic, its development and progression depends on a range of factors: environmental, genetic and epigenetic. A variety of genetic pathways have been described as being crucial in CRC, including protein tyrosine phosphatases (PTPs). PTPN13 (also called FAP-1) is a non-receptor PTP and interacts with a number of important components of growth and apoptosis pathways. It is also involved in the inhibition of Fas-induced apoptosis. METHOD: The single nucleotide polymorphism genotype at Y2081D (T>G) (rs989902) of PTPN13 exon 39 was determined in DNA extracted from blood samples from 174 sporadic CRC patients and 176 healthy individuals. Also, a meta-analysis was performed based on three articles accessed via the PubMed and ResearchGate databases. RESULTS: The risk of CRC was 2.087 times greater for patients with the GG genotype than for those with the TT genotype (P = 0.0475). In the meta-analysis, a significantly increased risk of cancer associated with the G allele was observed in the squamous cell carcinoma of the head and neck subgroup (TT vs GG+GT, OR 1.23, 95% CI [1.02, 1.47], P = 0.0258), and a significantly decreased risk in the breast cancer subgroup (TT vs GG+GT, OR 0.63, 95% CI [0.41, 0.96], P = 0.0334) and in the CRC subgroup (GT+TT vs GG, OR 0.51, 95% CI [0.41, 0.95], P = 0.0333). CONCLUSION: PTPN13 rs989902 is significantly associated with the risk of CRC in the Polish population. Given that this report provides the first evidence of an association of PTPN13 rs989902 with the risk of CRC in a Caucasian population, further large scale studies are necessary to confirm this finding.

Role of Diffusion Tensor MR Imaging in Degenerative Cervical Spine Disease: a Review of the Literature.

In the article we review the current role of diffusion tensor imaging (DTI), a modern magnetic resonance (MR) technique, in the diagnosis and the management of cervical spondylotic myelopathy (CSM), the most serious complication of degenerative cervical spine disease (DCSD). The pathogenesis of DCSD is presented first with an emphasis placed on the pathological processes leading to myelopathy development. An understanding of the pathophysiological background of DCSD is necessary for appropriate interpretation of MR images, both plain and DTI. Conventional MRI is currently the imaging modality of choice in DCSD and provides useful information concerning the extent of spondylotic changes and degree of central spinal canal stenosis; however its capability in myelopathy detection is limited. DTI is a state of the art imaging method which recently has emerged in spinal cord investigations and has the potential to detect microscopic alterations which are beyond the capability of plain MRI. In the article we present the physical principles underlying DTI which determine its sensitivity, followed by an overview of technical aspects of DTI acquisition with a special consideration of spinal cord imaging. Finally, the scientific reports concerning DTI utility in DSCD are also reviewed. DTI detects spinal cord injury in the course of DCSD earlier than any other method and could be useful in predicting surgical outcomes in CMS patients, however technical and methodology improvement as well as standardization of acquisition protocols and postprocessing methods among the imaging centers are needed before its implementation in clinical practice.

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome.

Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity.

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Esophageal atresia (EA) is a congenital defect of the esophagus involving the interruption of the esophagus with or without connection to the trachea (tracheoesophageal fistula [TEF]). EA/TEF may occur as an isolated anomaly, may be part of a complex of congenital defects (syndromic), or may develop within the context of a known syndrome or association. The molecular mechanisms underlying the development of EA are poorly understood. It is supposed that a combination of multigenic factors and epigenetic modification of genes play a role in its etiology. The aim of our work was to assess the human gene expression microarray study in esophageal tissue samples. Total RNA was extracted from 26 lower pouches of esophageal tissue collected during thoracoscopic EA repair in neonates with the isolated (IEA) and the syndromic form (SEA). We identified 787 downregulated and 841 upregulated transcripts between SEA and controls, and about 817 downregulated and 765 upregulated probes between IEA and controls. Fifty percent of these genes showed differential expression specific for either IEA or SEA. Functional pathway analysis revealed substantial enrichment for Wnt and Sonic hedgehog, as well as cytokine and chemokine signaling pathways. Moreover, we performed reverse transcription polymerase chain reaction study in a group of SHH and Wnt pathways genes with differential expression in microarray profiling to confirm the microarray expression results. We verified the altered expression in SFRP2 gene from the Wnt pathway as well as SHH, GLI1, GLI2, and GLI3 from the Sonic hedgehog pathway. The results suggest an important role of these pathways and genes for EA/TEF etiology.

Differential diagnostic ultrasound criteria of papillary and follicular carcinomas: a multivariate analysis.

PURPOSE: The purpose of the study was to test the hypothesis that papillary thyroid carcinomas (PTCs) and follicular thyroid carcinomas (FTCs) appear with different ultrasound characteristics. MATERIAL AND METHODS: 90 patients (70 females, 20 males) were included in the study in whom after thyroidectomy the diagnoses of PTCs or FTCs were established. 33 patients (25 females, 8 males) with the diagnosis of follicular adenoma were included in the study as controls (KONs). All patients had ultrasound examinations of the thyroid preoperatively. These ultrasound examinations were evaluated retrospectively with respect to the ultrasound characteristics: "size", "shape", "contour", "structure", "echogenicity" and "calcifications". RESULTS: In PTCs, FTCs and KONs "size" was significantly different (PTCs: MW = 12.5 mm, SD = 8.  mm - FTCs: MW = 35.4 mm, SD = 19.6  mm - KONs: MW = 22.7 mm, SD = 14.5  mm; p <  0.001 for PTCs vs. FTCs, p < 0.001 for PTCs vs. KONs, p = 0.013 for FTCs vs. KONs). Differences were also found with respect to "contour" and "echogenicity" among PTCs, FTCs and KONs (p ≤ 0.035). The parameters "size", "contour", "echogenicity" and "calcifications" correlated for PTCs, FTCs and KONs with a correlation coefficient r = 0.57 (p < 0.05, multivariate regressionanalysis). CONCLUSIONS: PTCs and FTCs appear with different sonographic characteristics. Although there is some overlapping of the sonographic appearances of PTCs and FTCs, the knowledge of these differences should have some impact of the risk adapted further work up.

In vivo evaluation of brain damage in the course of systemic lupus erythematosus using magnetic resonance spectroscopy, perfusion-weighted and diffusion-tensor imaging.

Twenty-two neuropsychiatric (NPSLE) and 13 systemic lupus erythematosus (SLE) patients with a normal appearing brain on plain magnetic resonance (MR) as well as 20 age-matched healthy controls underwent MR spectroscopy (MRS), perfusion-weighted (PWI) and diffusion-tensor imaging (DTI). In MRS NAA/Cr, Cho/Cr and mI/Cr ratios were calculated from the posterior cingulate cortex and left parietal white matter. In PWI, values of cerebral blood volume (CBV) were assessed from 14 regions, including gray and white matter. In DTI fractional anisotropy (FA) values were obtained from 14 white matter tracts including projection, commissural and association fibers. All MR measurements were correlated with clinical data. SLE and NPSLE patients showed significantly (p < 0.05) lower NAA/Cr ratios within both evaluated regions and FA values within the cingulum, as well as a tendency to cortical hypoperfusion. Compared to SLE, NPSLE subjects revealed lower FA values within a wide range of association fibers and corpus callosum. Advanced MR techniques are capable of in vivo detection of complex microstructural brain damage in SLE and NPSLE subjects regarding neuronal loss, mild hypoperfusion and white matter disintegrity. MRS and DTI seem to show the highest usefulness in depicting early changes in normal appearing gray and white matter in SLE patients.

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. We described a patient with a 1.4 Mb duplication at 17q12 detected by SNP-array study and validated using qRT-PCR, who presented with an oesophageal atresia accompanied with tracheoesophageal fistula and anal atresia as well as other symptoms resembling VATER association (thumb hypoplasia, sacral bone defect, cryptorchidism). Genomic rearrangements of chromosome 17q12 are associated with a variety of clinical phenotypes. Only few cases with OA patients with the duplication in 17q12 have been reported. The 17q12 region comprised 15 genes. We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association.

Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia.

Esophageal atresia (EA) is a congenital developmental defect of the alimentary tract concerning the interruption of the esophagus with or without connection to the trachea. The incidence of EA is 1 in 3000-3500 of live-born infants, and occurs in both isolated and syndromic (in combination with abnormalities in other organ systems) forms. The molecular mechanisms underlying the development of EA are poorly understood. Knockout studies in mice indicate that genes like Sonic hedgehog, Gli2, and Gli3 play a role in the etiology of EA. These facts led us to hypothesize that Sonic hedgehog-GLI gene rearrangements are associated with EA in humans. To test this hypothesis, we screened patients with isolated and syndromic EA for GLI2 and/or GLI3 microrearrangements using methods to estimate the copy number (Multiplex Ligation-dependent Probe Amplification, real-time polymerase chain reaction). To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA.

A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.

Resistance to thyroid hormone (RTH) syndrome is caused by mutations in THRB gene and is inherited mainly as an autosomal dominant trait with dominant negative effect. Most of up-to-now described RTH cases were heterozygous. We studied a 19-year-old woman presenting severe mental impairment, hyperkinetic behavior, learning disability, hearing loss, tachycardia, goiter, strabismus, nystagmus, and normal stature. The laboratory findings revealed elevated TSH, T3, and T4 serum levels. Her parents were healthy with normal serum level of TSH, fT3, and fT4. Sequence based prediction of a substitution was analyzed by SDM, PolPhen, and SNAP software whereas structural visualizations were performed in UCSF Chimera. We found a novel mutation in THRB gene in position 1216 (G to A transition, codon 311) resulting in novel Glu-311-Lys (p.E311K) substitution, homozygous in proband presenting with severe symptoms of RTH and heterozygous in both of her healthy parents, thus suggesting autosomal recessive mode of inheritance. p.E311K substitution was not found in 50 healthy, unrelated individuals. p.E311K was shown to be deleterious by SDM, PolPhen, and SNAP software. Structural visualizations of mutated protein performed by UCSF Chimera software disclosed a loss of hydrogen bonds between E311, R383, and R429 along with abnormal residue-residue contact between K311 and L377. This is a very rare case of a homozygous mutation in a patient with severe symptoms of RTH and lack of symptoms in both heterozygous parents. Although, computational analyses have provided the evidence that p.E311K substitution may affect THRB function, lack of dominant negative effect typical for THRB mutations could not be explained by structure-based modeling. Further in vitro analysis is required to assess the functional consequences of this substitution.

Quantitative evaluation of changes in the selected white matter tracts using diffusion tensor imaging in patients with Alzheimer's disease and mild cognitive impairment.

This study evaluated the damage to the extensive range of white matter tracts in patients with Alzheimer's disease (AD) and mild cognitive impairment (MCI). Thirty-four patients with AD (mean age 71.5 yrs, MMSE 17.6), 23 patients with MCI (mean age 66 yrs, MMSE 27.4) and 15 normal controls (mean age 69 yrs, MMSE 29.8) were enrolled. Diffusion tensor imaging (DTI) was performed in 25 directions on 1.5 T MR scanner. Fractional anisotropy (FA) values were obtained with a small ROI method in several association tracts including posterior cingulum fibers, in commissural tracts (genu and splenium of corpus callosum) and projection tracts (middle cerebellar peduncles and posterior limbs of internal capsules). In MCI significant reductions of FA were found in the inferior longitudinal fascicles, left superior longitudinal fascicle and posterior cingulum fibers compared to normal controls. In AD significantly decreased FA values were detected in the same fascicles as in MCI and additionally in inferior fronto-occipital tracts and commissural tracts. In both AD and MCI the most severe changes were found within posterior cingulum fibers. No abnormalities were detected in projection tracts in both groups. Accuracy of DTI in detecting AD and MCI reached 0.95 and 0.79, respectively. FA measurements strongly correlated with neuropsychological tests. DTI is capable of depicting microstructural changes within white matter fiber tracts in dementia and may aid the differential diagnosis of AD and MCI.

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome.

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.

Unusual presentation of recurrent pituitary abscess. A case report and literature review.

Pituitary abscess is a rare pituitary pathology which may be potentially life-threatening if not treated. Therefore, early accurate diagnosis and therapy are extremely important. However, the clinical diagnosis is difficult because there are no clinical symptoms characteristic of pituitary abscess. It is frequently indistinguishable clinically or with neuroimaging studies from other pituitary lesions. The MR diagnosis of pituitary abscess must be suspected in cases of sellar cystic mass with a peripheral rim enhancement after contrast administration. It must be highlighted that pituitary abscess may show various signal intensity on T1-weighted images, as in our case, making the diagnosis even more difficult. We report an unusual case of a 66-year-old woman who presented with a recurrent pituitary abscess, initially misdiagnosed as a pituitary adenoma because of its high signal intensity on T1-weighted images. The woman was operated on three times, using transsphenoidal access with a good final outcome.

Coil embolization of two flow-related aneurysms in p1 segment of the posterior cerebral artery in a patient with occlusion of the ipsilateral internal carotid artery.

Aneurysms of the posterior cerebral artery (PCA) are uncommon (about 1% of all intracranial aneurysms) and their neurosurgical treatment is associated with high operative risk. We report on two saccular aneurysms of the P1 segment of the right PCA, combined with occlusion of the C1 segment of the internal carotid artery (ICA) detected during routine diagnostic studies in a 58-year-old patient with slight sensory loss in the left extremities. The aneurysms were embolized during two consecutive sessions, without subsequent complications. Endovascular intervention is an efficient method in the treatment of multiple aneurysms in the P1 segment of the PCA.