The relationship between brain abnormalities and autistic psychopathology in pervasive developmental disorders.

The aim of the present research has been to determine whether there is a relationship between brain abnormalities found on magnetic resonance imaging (MRI) and autistic psychopathology. A retrospective analysis covering a period between 1998 and 2015 included 489 children with autism (404 boys, 85 girls; average age 8.0 ± 4.2 years) who underwent an MRI of the brain. For clinical diagnosis of autism, the International Classification of Diseases, 10th revision (ICD-10), was used. Autistic psychopathology was evaluated by means of the Autism Diagnostic Interview - Revised. The Spearman nonparametric correlation analysis and chi-square test were used to examine the possible relationships between variables. The group of autistic children did not manifest a statistically significant correlation between the parameters examined on MRI and autistic psychopathology. A correlation between other cysts and repetitive behavior was significant only at trend level (P = 0.054). Gliosis of the brain was significantly more frequent in autistic children with mental retardation than in children without mental retardation (14.1% vs. 7.4%; P = 0.028). Nonmyelinated areas in the brain were significantly more frequent in autistic children with autistic regression than in children without autistic regression (29.9% vs. 15.7%; P = 0.008). Mental retardation was significantly more frequent in autistic children with autistic regression than in children without regression (73.2% vs. 52.5%; P = 0.002). Our research study did not reveal a statistically significant correlation of brain abnormalities on MRI with autistic psychopathology.

Submilisievert ultralow-dose CT colonography using iterative reconstruction technique: a feasibility study.

BACKGROUND: Computed tomography (CT) colonography is a well established modality for the examination of symptomatic patients as well as in screening. Recent technical advances in improving image quality by iterative reconstruction contribute to the reduction of the radiation dose which is a major concern in CT imaging. PURPOSE: To evaluate image quality of ultralow-dose submilisievert CT colonography using hybrid iterative reconstruction technique. MATERIAL AND METHODS: Sixteen patients underwent contrast-enhanced CT colonography with standard protocol in supine position and ultralow-dose protocol in prone position. Ultralow-dose datasets were reconstructed with filtered back projection and an advanced hybrid iterative reconstruction technique. Two radiologists independently evaluated 96 colonic segments for image quality in the endoluminal view and axial thin sections. Colonic distension, smoothness of colonic wall and distortion of folds in the endoluminal view, sharpness of colonic wall delineation, perceived image noise, and presence of photon starvation artifact were rated on a five-point scale. Intraluminal noise expressed as standard deviation of Hounsfield density was measured in all segments. RESULTS: The mean radiation dose was 0.42 mSv and 5.48 mSv in prone and supine scans, respectively. All distended segments were rated evaluable in standard dose and ultralow-dose series reconstructed with the iterative reconstruction technique, whereas in 61% segments image quality was rated poor or unacceptable in ultralow-dose series where filtered back projection was used with worst ratings in the rectum and the sigmoid colon. CONCLUSION: This pilot study shows that iterative reconstruction technique is a feasible method to decrease the radiation dose from CT colonography for both positions below 1mSv. Further investigations of larger scale need to be done to clarify, whether such a low radiation dose would influence the detection of polyps.

Spatial navigation impairment is proportional to right hippocampal volume.

Cognitive deficits in older adults attributable to Alzheimer's disease (AD) pathology are featured early on by hippocampal impairment. Among these individuals, deterioration in spatial navigation, manifested by poor hippocampus-dependent allocentric navigation, may occur well before the clinical onset of dementia. Our aim was to determine whether allocentric spatial navigation impairment would be proportional to right hippocampal volume loss irrespective of general brain atrophy. We also contrasted the respective spatial navigation scores of the real-space human Morris water maze with its corresponding 2D computer version. We included 42 cognitively impaired patients with either amnestic mild cognitive impairment (n = 23) or mild and moderate AD (n = 19), and 14 cognitively intact older controls. All participants underwent 1.5T MRI brain scanning with subsequent automatic measurement of the total brain and hippocampal (right and left) volumes. Allocentric spatial navigation was tested in the real-space version of the human Morris water maze and in its corresponding computer version. Participants used two navigational cues to locate an invisible goal independent of the start position. We found that smaller right hippocampal volume was associated with poorer navigation performance in both the real-space (ß = -0.62, P < 0.001) and virtual (ß = -0.43, P = 0.026) versions, controlling for demographic variables, total brain and left hippocampal volumes. In subsequent analyses, the results were significant in cognitively impaired (P ≤ 0.05) but not in cognitively healthy (P > 0.59) subjects. The respective real-space and virtual scores strongly correlated with each other. Our findings indicate that the right hippocampus plays a critical role in allocentric navigation, particularly when cognitive impairment is present.

[Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic]. / Neurofibromatosis von Recklinghausen typ 1 (NF1) - klinický obraz a molekulárne-genetická diagnostika.

Neurofibromatosis von Recklinghausen type 1 (NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease characterized by skin, central and peripheral nervous system , eyes , bone, endocrine, gastrointestinal and blood vessel wall involvement. It has an estimated frequency of 1 in 3000. Neurofibromatosis type 1 is caused by mutations in the large NF1 gene located on chromosome 17q11.2, encoding the cytoplasmic protein neurofibromin. It is expressed in multiple cell types but is highly expressed in Schwann cells, oligodendrocytes, neurons, astrocytes and leukocytes. Neurofibromin is known to act as a tumor suppressor via Ras-GTPase activation, which causes down-regulation of cellular signaling via the Ras/mitogen-activated protein kinase (MAPK) pathway. Failure of this function is associated with a tendency to form tumors which are histologically hamartomas as well as benign tumors. Tumors of the central nervous system include low-grade gliomas (pilocytic astrocytomas grade I), especially optic pathway gliomas. They are often clinically asymptomatic. Other intracranial tumors are in the brain stem and also elsewhere in the brain and spinal cord. Hydrocephalus may be a complication of NF1 gliomas or due to stenosis of the distal part of the aqueduct Silvii. Cutaneous and subcutaneous neurofibromas or plexiform neurofibromas are localized in the peripheral nervous system. Plexiform neurofibromas have a significant lifetime risk of malignancy. The clinical diagnosis of NF1 is defined by diagnostic criteria. The NF1 diagnosis is satisfied when at least two of the seven conditions are met. The method of direct DNA analysis of large NF1 gene (61 exons) is available. The results of studies of genotype - phenotype established few correlations. But predicting the disease by finding mutations is not currently possible. NF1 exhibits a wide range of variability of expression and complete penetrance, even within the same family. About half of cases are new mutations. The treatment of patients with neurofibromatosis is symptomatic. Central nervous system symptomatic low-grade gliomas are most often treated with chemotherapy. For plexiform neurofibromas surgical removal is currently the only treatment option.

Oncological and pregnancy outcomes after high-dose density neoadjuvant chemotherapy and fertility-sparing surgery in cervical cancer.

OBJECTIVE: 28 women under 35years with early-stage cervical cancer and strong desire for fertility preservation that do not fulfil standard criteria for fertility-sparing surgery (tumour larger than 2cm or with deep of infiltration more than half of stroma) were included in prospective study. METHODS: Dose-dense neoadjuvant chemotherapy (NAC) was performed on all 28 patients in 10-day intervals: cisplatin plus ifosfamide in squamous cell cancer (15 women-53.6%) or cisplatin plus doxorubicin in adenocarcinoma (13 women-46.3%). Patients underwent laparoscopic lymphadenectomy and vaginal simple trachelectomy after NAC. Patients with positive lymph nodes or inadequate free surgical margins underwent radical hysterectomy. RESULTS: No residual disease was found in 6 women (21.4%), microscopic disease was observed in 11 women (39.3%) and macroscopic tumour in was observed in 11 women (39.3%). Ten women (35.7%) lost fertility. Four women (20%) after fertility-sparing surgery recurred, two died of the disease (10%). Fertility was spared in 20 (71.4%) women and 10 of them became pregnant (50%). Eight women delivered ten babies (6 term and four preterm deliveries). There were two miscarriages in second trimester (in one woman) and one in first trimester. One woman underwent four unsuccessful cycles of IVF, one failed to become pregnant and one recurred too early. Two women underwent chemoradiotherapy for recurrence and lost chance for pregnancy. CONCLUSIONS: Downstaging by NAC in IB1 and IB2 cervical cancer before fertility-sparing surgery is still an experimental procedure, but shows some promise. Long-term results in relation to oncological outcome for this concept are still needed.

Crohn's disease: is there a place for neurological screening?

OBJECTIVE: Neurological complications of inflammatory bowel diseases (IBDs) are not rare but are under-diagnosed; some are probably immune-mediated. Several previous studies have suggested a higher incidence of demyelinating diseases such as multiple sclerosis in IBD patients. In this single-center, prospective, observational study, the authors focus on T2 focal white-matter lesions of the central nervous system on magnetic resonance imaging (MRI) in IBD patients that may be due to demyelination. MATERIAL AND METHODS: A total of 70 patients with Crohn's disease were examined before beginning anti-TNF-α therapy. These patients were treated with azathioprine, mesalazine or both. Patients were examined by a neurologist to detect possible signs of demyelinating disease, and patients underwent brain MRI (native T1, T2, and FLAIR sequences). RESULTS: Thirty-seven patients (53%) exhibited abnormalities on neurological examination, and 26 patients (37%) displayed abnormalities on MRI. In seven cases, these MRI abnormalities (periventricular lesions) were suspected to be due to demyelination. Cerebral spinal fluid investigation (including polyclonal bands) was completely negative in five cases and was borderline in one case, and multiple sclerosis was confirmed in one case. Pathological MRI findings in 19 other patients were clinically nonsignificant; most were nonspecific sporadic lesions in white matter or mild atrophy. CONCLUSIONS: The results support previous data that the frequency of neurological findings in IBD patients is generally underestimated. With the extension of biological anti-TNF-α treatment for IBD, the possibility of a higher risk of developing multiple sclerosis should be considered.

Mid-term results of revision total hip arthroplasty using the oval-shaped uncemented Trc-Cingr cup.

PURPOSE: The aim of the present study was to introduce a novel oblong revision cup type TC for use in revision total hip arthroplasty (THA), and to evaluate mid-term results in terms of bone tissue remodelling in the immediate area of the implant. METHODS: The results of 31 patients that underwent revision THA between 2004 and 2008 are presented. The mean follow-up interval was 7.1 years (range 5.3-9.3 years, minimum of five years following revision). Osteointegration of the implant and bone tissue remodelling around the implant and ribs were assessed by X-ray and computed tomography (CT). RESULTS: The average Harris hip score increased from 39.8 to 85.3. Excellent results were achieved in nine patients, good in 16, fair in three and poor in three. According to X-ray results, 25 hips had a well-fixed, bone-ingrown cup and five had a stable fibrous union in the middle and the distal third of the implant. Proximal migration of the cup was noted in one case. Pelvic CT was additionally performed in ten patients. In all cases, we detected bone remodelling in the space between the implant ribs. Kaplan-Maier survivorship of the acetabular components was 94.2 % at 7.1 years. CONCLUSIONS: Our results show that the novel oblong revision cup type TC is relatively simple to implant, and is associated with reliable primary fixation and documented osteointegration and bone remodelling in the immediate area.

High-dose density neoadjuvant chemotherapy in bulky IB cervical cancer.

OBJECTIVE: The endpoint of this prospective study is to evaluate response rate, survival and toxicity of high-dose density neoadjuvant chemotherapy (NAC) in bulky IB cervical cancer. MATERIAL AND METHODS: Between January 1998 and December 2009, 154 women were enrolled into study. Three patients were withdrawn. Of the 151 women, 119 had stage IB2 cervical cancer (78.8%) and 32 had stage IB1 cancer (21.2%) infiltrating the whole cervical stroma. Women received 3-4cycle cisplatin-75mg/m(2) and ifosfamide-2g/m(2) in cases of squamous-cell cancer or cisplatin-75mg/m(2) and doxorubicin-35mg/m(2) in adenocarcinoma every 10days and then underwent radical hysterectomy type III. Patients who had non-resectable disease underwent chemoradiotherapy. RESULTS: The overall response rate (reduction of tumor volume more than 50%) was 78.8%. Reduction of tumor volume less than 50% was seen in 15.2%. Tumor progression during chemotherapy occurred in nine patients (6.0%). There were positive lymph-nodes in 26 patients (18.3%) of the 142 that underwent surgery. 38 women underwent adjuvant radiotherapy (26.7%). There were 26 recurrences (17.2%). After surgery 20 women recurred from 142 (14.1%) and after primary radiotherapy 6 from 9 women recurred (66.7%). 25 of 151 women died from disease (16.5%). At the time of the study, surgery was performed in 118 women 5 or more years ago, 19 of them died of disease. Five-year specific survival is 83.6%. Grade 3-4 neutropenia was found in only 7.3% of the women, and grade 3-4 thrombocytopenia were found in 1.3%. CONCLUSION: High-dose density NAC appears to be feasible in the treatment IB bulky cervical cancer and toxicity is acceptable. Adjuvant radiotherapy was used only in 26.7%.

Impact of video-endoscopy on the results of retrosigmoid-transmeatal microsurgery of vestibular schwannoma: prospective study.

Endoscopy-assisted microsurgery represents modern trend of treatment of the cerebellopontine angle (CPA) pathologies including vestibular schwannoma (VS). Endoscopes are used in adjunct to microscope to achieve better functional results with less morbidity. Angled optics, magnification and illumination enable superior view in the operative field. Consecutive 89 patients with untreated unilateral sporadic vestibular schwannoma undergoing tumor resection via a retrosigmoid approach during 2008-2010 were prospectively analysed. Endoscopy-assisted microsurgical (EA-MS) removal was performed in 39 cases (Grade 1: 2, Grade 2: 5, Grade 3: 9, Grade 4: 22, Grade 5: 1) and microsurgical (MS) removal was performed in 50 cases (Grade 1: 1, Grade 2: 3, Grade 3: 9, Grade 4: 34, Grade 5: 3). Minimally invasive approach with craniotomy ≤ 2.5 cm was employed for small tumors (Grade 1 and 2) in the EA-MS group. Endoscopic technique was used for monitoring of neuro-vascular anatomy in CPA, during dissection of the meatal portion of tumors, assessment of radicality and for identification of potential pathways for CSF leak formation. All cases in MS group were deemed as radically removed. In the EA-MS group, residual tumor tissue in the fundus of internal auditory canal not observable with microscope was identified with endoscope in four cases. Such cases were radicalized. Tumor recurrence was not observed during the follow-up in EA-MS group. There is a suspicious intrameatal tumor recurrence on the repeated MRI scan in one patient in the MS group. Neither mortality nor infection was observed. The most common complication was pseudomeningocele (EA-MS 20 cases; MS 23). It was managed with aspiration with or without tissue-gluing in all cases without the need for any surgical revision. Adjunctive use of endoscope in the EA-MS group identified potential pathways for CSF leak formation, which was not observable with the microscope in five patients. Improved cochlear nerve (EA-MS: 22, MS: 14; p = 0.012), brainstem auditory evoked potentials (EA-MS: 3 of 8, MS: 0 of 4) and hearing (EA-MS: 14 of 36, MS: 4 of 45; p = 0.001) preservation were observed in EA-MS group. Despite the trend for better useful hearing (Gardner-Robertson class 1 and 2) preservation (EA-MS: 8 of 26, MS: 1 of 16) there were no significant differences in the postoperative hearing handicap inventory in both groups. There were no differences in the postoperative tinnitus in both groups. Better facial nerve preservation (EA-MS: 39, MS: 44; p = 0.027) and excellent-very good (House-Brackmann 1 or 2) facial nerve function (EA-MS: 31, MS: 29; p = 0.035) were observed in EA-MS group. Postoperative compensation of vestibular lesion, symptoms typical for VS, patients assessed by dizziness handicap inventory, facial disability index were comparable in both studied groups. Adjunctive use of endoscope during the VS surgery due to its magnification and illumination enable superior view in the operative field. It is valuable for assessment of radicality of resection in the region of internal auditory meatus. Improved information about critical structures and tumor itself helps the surgeon to preserve facial nerve and in selected cases also hearing. These techniques can help to decrease incidence of postoperative complications.

Hearing After Vestibular Schwannoma Surgery: Is It Preserved Forever?

INTRODUCTION: Currently, it is possible to preserve the auditory nerve in a large number of cases, but the preservation of the hearing itself is unpredictable. Apart from wait and scan strategy and stereoradiotherapy, hearing after vestibular schwannoma surgery is considered to remain stable even in long-term follow-up. MATERIALS AND METHODS: Twenty-eight patients had preserved hearing after retrosigmoid suboccipital microsurgery of the vestibular schwannoma between 2008 and 2014. A standard audiological protocol was performed together with an magnetic resonance imaging evaluation of the fluid content of the inner ear. RESULTS: The mean difference in pure-tone average between the direct and final postsurgical examination was 12.758 dB ( p = 2.5E - 06). The word recognition score deteriorated by 17.45% ( p = 0.03516). The mean American Academy of Otolaryngology-Head and Neck Surgery score on the second examination was 2.5, and that on the second examination was 3.111 ( p = 0.00483). There was no significant deterioration in the healthy ear.The signal intensity ratio in the basal turn of the cochlea increased by an average of 0.13 points ( p < 0.05).Patients with persistent tumor or nodular enhancement in the internal acoustic meatus deteriorated significantly in hearing according to the American Academy of Otolaryngology-Head and Neck Surgery scale compared with patients without any finding in the meatus ( p = 0.01299). CONCLUSIONS: There is a discrete but gradual deterioration of the hearing in the postoperative period. Hearing impairment is more pronounced in patients with a nodular process in the internal acoustic meatus, regardless of whether it is growth active. After surgery, the pathological content of the inner ear normalizes (evaluated on T2 magnetic resonance imaging sequences).

Does vestibular function correlate with objective MRI findings after vestibular schwannoma surgery?

Objective: Vestibular schwannoma surgery leads to acute unilateral vestibular loss. In some patients, however, the process of post-operatively initiated central compensation proceeds more rapidly than in others. This study aimed to evaluate post-operative vestibular function and correlate it with morphological findings of MRI scans. Methods: The study included 29 patients who underwent surgery for vestibular schwannoma. Vestibular function was analysed post-operatively by video head impulse test (vHIT). Subjective symptoms were evaluated using validated questionnaires. All patients underwent MRI 3 months post-operatively, and the presence of the facial and vestibulocochlear nerves in the internal auditory canal was assessed. Results: The vestibulo-ocular reflex gain measured by the vHIT correlated positively with audiological findings. Subjective perception of vestibular disorder did not correlate with objectively measured vestibular impairment or with MRI findings. Conclusions: After the resection of vestibular schwannoma, some patients may still have preserved vestibular function as measured by vHIT. The preserved function does not correlate with subjective symptoms. Patients with partially deteriorated vestibular function showed lower sensitivity to combined stimuli.

Bobble-head doll syndrome: therapeutic outcome and long-term follow-up in four children.

Bobble-head doll syndrome (BHDS) is a complex syndrome with the dominant symptom of repetitive anteroposterior head movement. Only 57 patients are quoted in the literature. The etiology of this syndrome remains unknown and no standard treatment has yet been established. We hereby report four cases treated at our department. All the patients presented a psychomotor retardation due to an obstructive hydrocephalus. All the patients were treated using neuroendoscopic techniques: two with ventriculocystostomy, and two with ventriculocystocisternostomy. Cyst decompression was achieved in all four cases and clinical recovery was evident in three of the four patients observed. After surgery, BHDS persisted longer the more the subsequent treatment was delayed. In this article, we provide a concise overview of the theories of pathogenesis, presentation, and management of this syndrome. Based on our own experience, we state that the method of choice should be the neuroendoscopy and this must be performed promptly after diagnosis is made.

Diffusion tensor imaging in Alzheimer disease and mild cognitive impairment.

A wide range of imaging studies provides growing support for the potential role of diffusion tensor imaging (DTI) in evaluating microstructural white matter integrity in Alzheimer disease (AD) and mild cognitive impairment (MCI). Our review aims to present DTI principles, post-processing and analysis frameworks and to report the results of particular studies. The distribution of AD-related white matter abnormalities is widely discussed in the light of deteriorated connectivity within certain tracts due to secondary white matter degeneration; primary alterations are also assumed to contribute to the pattern. The question whether it is more effective to assess the whole-brain diffusion or to directly concentrate on specific regions remains an interesting issue. Assessing white matter microstructure alterations, as evaluated by group-level differences of tensor-derived parameters, may be a promising neuroimaging tool for differential diagnosis between AD, MCI and other cognitive disorders, as well as being particularly helpful in the interpretation of underlying pathological processes.

The role of neoadjuvant chemotherapy and surgery in cervical cancer.

The role of neoadjuvant chemotherapy (NAC) in "bulky" and locally advanced cervical cancer has been of interest for the last 25 years, and in many countries, NAC has become the standard of care. In the present paper, we review our 10 years' experience with high-dose-density NAC in cervical cancer management in 141 women (CervNAC I protocol). High-dose-density neoadjuvant chemotherapy and radical surgery has resulted in high clinical response rates and seems to be feasible in the management of stage IB bulky cervical cancer. Neoadjuvant chemotherapy reduces tumor volume and positivity of lymph nodes and thus minimizes the need for postoperative radiotherapy or chemoradiotherapy. Tumor size reduction and node negativity allows less radical surgical procedures such as modified radical hysterectomy or nerve-sparing radical hysterectomy. Early and especially late toxicity of our high-dose density chemotherapy is acceptable. Neoadjuvant chemotherapy followed by surgery represents a valid alternative to primary chemoradiotherapy in young and sexually active patients. Five-year survival in patients who underwent surgery in our study was 80.6%. Currently, 3 papers with 3 approaches have been published on NAC before fertility-sparing surgery. One of the limitations of fertility-preserving surgery is deep stromal invasion and tumors larger than 2 cm. The idea underlying NAC is to reduce the size of the cervical tumor to preserve fertility. In the present paper, we also review our experience with high-dose-density NAC in fertility-sparing surgery in 15 women (LAP3-NAC protocol).

Transoral and combined transoral-transcervical approach in the surgery of parapharyngeal tumors.

The goal of parapharyngeal space (PPS) tumor surgery is to obtain adequate visualization to ensure complete removal with preservation of the surrounding nerves and vessels. Different surgical approaches have been described. Transoral approach is the most controversial one due to cited limited exposure, risk of tumor spillage, and possibility of neurovascular injury. We performed retrospective analysis of 26 consecutive patients who had undergone transoral or combined transoral-transcervical resection of PPS tumors from January 1997 to December 2007. Both approaches were safely employed to remove selected PPS tumors. Majority of treated tumors were pleomorphic adenomas (14 minor salivary gland and 7 deep lobe parotid gland tumors). Two cases of malignant salivary gland tumors, 4 nerve sheath tumors and 1 lymphangioma were also excised. Mean tumor size was 6.1 cm (range 2-11 cm). Visualization was felt to be adequate and dissection safe. Radical resection was achieved in 24 cases. Near-total resection was achieved in two cases where otherwise other approach would be suitable but cannot be undertaken because of patient refusal and comorbidities. Patients with malignant tumors had postoperative radiotherapy. Radically treated cases are disease free. One of the near-totally resected tumors needed revision surgery. Neither major complications nor disordered healing were observed. Transoral approach provides access to selected cases of PPS tumors based on preoperative imaging methods and fine-needle aspiration cytology. Risk of non-radical resection is acceptable. It can be combined with external approach to achieve safe resection of some benign tumors which would need transmandibular approach.

Orbital and intracranial complications after acute rhinosinusitis.

BACKGROUND/OBJECTIVES: Nowadays, intracranial abscess is a rare complication of acute rhinosinusitis. The consequent orbital and intracranial complications of acute rhinosinusitis are rare but must be mutually excluded in complicated rhinosinusitis even when proper surgical and medical treatment tend to efficiently heal the orbital complication. METHODS: We report a case of a patient who primarily revealed symptoms of orbitocellulitis as a complication of odontogenous rhinosinusitis. Proper diagnostic and therapeutical measures were undertaken to manage the disease immediately after stationary admission. RESULTS: Two weeks after an inconspicuous healing period, hemiparesis due to formation of an intracranial abscess developed. An emergent situation reveals which was unusual to the clinical situation. CONCLUSION: The possible role of underlying mechanisms of intracranial abscess formation is discussed and review of literature concerning orbital and intracranial rhinosinusitis complications is performed. The correct indication of imaging methods and accurate evaluation of diminutive symptoms are essential. We assume that performance of a complementary CT of the brain or MRI even when previous CT scan of the orbit/paranasal sinuses reveals no cerebral pathology should be done to avoid or minimize future patients with consecutive orbital and intracranial complications of acute rhinosinusitis.

Long-term (up to 20 years) results of percutaneous balloon angioplasty of recurrent aortic coarctation without use of stents.

AIMS: To assess the efficacy, safety, and long-term results of the balloon angioplasty of recoarctation. METHODS AND RESULTS: The angioplasty was performed in 99 consecutive patients aged 36 days to 32.6 years (median 268 days). Recoarctation to descending aorta diameter ratio increased from 0.44 (0.35/0.50) to 0.66 (0.57/0.77), P < 0.001. Systolic gradient was reduced from 34.0 (26.0/44.75) to 15.0 (8.25/27.0) mmHg, P < 0.001. In seven patients (7.1%) the procedure was ineffective. One patient (1%) with heart failure died within 24 h after a successful angioplasty and in another (1%) an intimal abruption necessitated surgical revision. The follow-up ranged up to 20.7 years (median 8.1 years). Actuarial probability of survival 20.7 years after the procedure was 0.91, and of reintervention-free survival was 0.44. Older age at the angioplasty was associated with a higher incidence of reinterventions (hazard ratio 1.057; 95% confidence interval 1.012-1.103; P = 0.010). The type of surgery and the recoarctation anatomy did not influence the outcome. In 69 patients aneurysm formation was studied by high-sensitive methods with only one positive finding per 462 patient-years. CONCLUSION: Angioplasty is safe and effective regardless of the type of surgery used and the recoarctation anatomy. Older age at the angioplasty is associated with a higher incidence of reinterventions.

The yield of structural magnetic resonance imaging in autism spectrum disorders.

AIMS: The aim of our study was to assess the yield of routine brain magnetic resonance imaging (MRI) performed at our hospital as part of the diagnostic procedures focused on autism. METHODS: Our retrospective study involved children who had attended a diagnostic examination focused on autism and underwent brain MRIs between 1998-2015. The International Classification of Diseases, 10th edition was used to make clinical diagnoses. In 489 children (404 boys, 85 girls; mean age 8.0±4.2 years), a diagnosis of a pervasive developmental disorder was confirmed. Forty-five children, where the autism diagnosis was ruled out (but other psychiatric diagnoses found), served as a control group (36 boys, 9 girls; mean age 7.0±2.4 years). We can assume that in such a control group, brain abnormalities might occur at a higher frequency than in truly healthy children which would have the effect of reducing the difference between the groups. RESULTS: MRI pathologies were more common in the autistic (45.4 %) compared to the control group (31.8%) but the difference was significant only at the trend level (P=0.085). Hypoplasia of the corpus callosum (CC) was significantly more common in the autistic vs. the control group (13.7 vs. 0%; P=0.009). In contrast, nonmyelinated areas of white matter were significantly more common in controls (31.8 vs.17.3%; P=0.018). Differences in other parameters were not significant. CONCLUSION: The occurrence of CC hypoplasia on routine MRI scans could represent a "red flag" for suspicion of autism.

Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1.

PURPOSE: To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis. SUBJECTS AND METHODS: We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. RESULTS: We have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). GOOPs were significantly more often treated than OPGs (p > 0.01). OPGs contain clinically important subgroup of 14/285 (4.9%) spreading to hypothalamus. Spontaneous regression was documented in 4/285 (1.4%) gliomas and the same number of NF1 children died due to gliomas. Obstructive hydrocephalus was found in 22/285 (7.7%) patients and 14/22 cases were due to glioma. Idiopathic aqueduct stenosis caused hydrocephalus in 6/22 cases and was found in 2.1% of NF1 children. Two had other cause. CONCLUSIONS: The total brain glioma number (OPGs and only GOOPs together) better reflected the overall brain tumour risk for NF1 children. However, GOOPs occur less frequently than OPGs, they are more clinically relevant. The obstructive hydrocephalus was severe and featuring frequent complication, especially those with GOOP. Idiopathic aqueduct stenosis shows an unpredictable cause of hydrocephalus in comparison with glioma and is another reason for careful neurologic follow up.

Health-related quality of life, neuropsychiatric symptoms and structural brain changes in clinically isolated syndrome.

BACKGROUND: Neuropsychiatric symptoms and reduced health-related quality of life (HRQoL) are frequent in multiple sclerosis, where are associated with structural brain changes, but have been less studied in clinically isolated syndrome (CIS). OBJECTIVE: To characterize HRQoL, neuropsychiatric symptoms (depressive symptoms, anxiety, apathy and fatigue), their interrelations and associations with structural brain changes in CIS. METHODS: Patients with CIS (n = 67) and demographically matched healthy controls (n = 46) underwent neurological and psychological examinations including assessment of HRQoL, neuropsychiatric symptoms and cognitive functioning, and MRI brain scan with global, regional and lesion load volume measurement. RESULTS: The CIS group had more, mostly mild, depressive symptoms and anxiety, and lower HRQoL physical and social subscores (p≤0.037). Neuropsychiatric symptoms were associated with most HRQoL subscores (ß≤-0.34, p≤0.005). Cognitive functioning unlike clinical disability was associated with depressive symptoms and lower HRQoL emotional subscores (ß≤-0.29, p≤0.019). Depressive symptoms and apathy were associated with right temporal, left insular and right occipital lesion load (ß≥0.29, p≤0.032). Anxiety was associated with lower white matter volume (ß = -0.25, p = 0.045). CONCLUSION: Mild depressive symptoms and anxiety with decreased HRQoL are present in patients with CIS. Neuropsychiatric symptoms contributing to decreased HRQoL are the result of structural brain changes and require complex therapeutic approach in patients with CIS.