Primary empty sella (PES) is characterized by the herniation of the subarachnoid space within the sella, which is often associated with variable degrees of flattening of the pituitary gland in ...patients without previous pituitary pathologies. PES pathogenetic mechanisms are not well known but seem to be due to a sellar diaphragm incompetence, associated to the occurrence of upper sellar or pituitary factors, as intracranial hypertension and change of pituitary volume. As PES represents in a majority of cases, a neuroradiological findings without any clinical implication, the occurrence of endocrine, neurological and opthalmological symptoms, due to the above describes anatomical alteration, which delineates from the so called PES syndrome. Headache, irregular menses, overweight/obesity and visual disturbances compose the typical picture of PES syndrome and can be the manifestation of an intracranial hypertension, often associated with PES. Although hyperprolactinemia and growth hormone deficit represent the most common endocrine abnormalities, PES syndrome is characterized by heterogeneity both in clinical manifestation and hormonal alterations and can sometime reach severe extremes, as occurrence of papilledema, cerebrospinal fluid rhinorrhea and worsening of visual acuity. Consequently, a multidisciplinary approach, with the integration of endocrine, neurologic and ophthalmologic expertise, is strongly advocated and recommended for a properly diagnosis, management, treatment and follow-up of PES syndrome and all of the related abnormalities.
•Upper body MRI shows a peculiar pattern of muscle involvement in GNE myopathy.•Subscapularis, serratus anterior, trapezius and pectoralis minor are the most involved.•Upper body muscles are ...relatively spared compared with lower body.•Upper body imaging is useful in stratification of patients at different disease stages.
Upper body muscle involvement has never been systematically investigated in GNE myopathy (GNEM). Aims of our study were to explore upper body involvement in GNEM patients by means of muscle MRI, to compare the degree of pathology with that of lower body and to validate the MRI pattern of the lower limbs in novel patients. MRI scans of 9 GNEM patients were retrospectively evaluated. T1-weighted and short-tau inversion recovery images were scored. As a result, serratus anterior was involved in all patients, followed by subscapularis and trapezius muscles. The majority of scans consistently showed hypotrophy of pectoralis minor. Conversely, cranial muscles including the tongue were always spared while pectoralis major and latissimus dorsi were relatively spared. We confirmed the known pattern of involvement in the pelvic girdle and limbs, that were more significantly affected than the upper girdle in all disease stages. Paraspinal muscles were also frequently affected displaying both a cranio-caudal and latero-medial gradient of severity along the body axis. Upper girdle MRI highlights a selective muscle involvement in GNEM, offering an added value in patients’ diagnostic workup and deep stratification.
Background and purpose
The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and ...clinical/molecular data.
Methods
Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1‐weighted and short‐tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema.
Results
The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro‐caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2.
Conclusion
This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD‐related disease spectrum.
Our aim was to define typical magnetic resonance (MRI) findings in malignant and benign parotid tumours. This study is based on retrospective evaluation of pre-surgical MRI of 94 patients with ...parotid gland tumours. Histology results were available for all tumours. There were 69 cases of benign (73%) and 25 cases of malignant (27%) tumours, including 44 pleomorphic adenomas, 18 Warthin's tumours, 7 various benign tumours, 6 squamous cell carcinomas, 3 carcinoma ex pleomorphic adenomas, 2 mucoepidermoid carcinomas, 1 adenoid cystic carcinoma and 13 various malignant tumours. The following MRI parameters were evaluated: shape, site, size, margins, signal intensity (SI) on T1w and T2w images, contrast enhancement, signal of cystic content, presence or absence of a capsule, perineural spread, extraglandular growth pattern and cervical adenopathy. Statistical analysis was performed to identify the MRI findings most suggestive of malignancy, and to define the most typical MRI pattern of the most common histologies. Ill-defined margins (p < 0.001), adenopathies (p < 0.001) and infiltrative grown pattern (p < 0.001) were significantly predictive of malignancy. Typical findings of pleomorphic adenoma included hyperintensity on T2w images (p = 0.02), strong contrast enhancement (p < 0.001) and lobulated shape (p = 0.04). Typical findings of Warthin's tumour included hyperintense components on T1w images (p < 0.001), location in the parotid inferior process (p < 0.001) and mild or incomplete contrast enhancement (p = 0.01). SI on T1w and T2w images and contrast enhancement enables differential diagnosis between pleomorphic adenoma and Warthin's tumour.
Purpose
The aim of this paper is to demonstrate that computed tomography (CT) and three-dimensional (3D) CT imaging techniques can be useful tools for evaluating gunshot wounds of the skull in ...forensic medicine. Three purposes can be achieved: (1) identifying and recognising the bullet entrance wound — and exit wound, if present; (2) recognising the bullet’s intracranial course by studying damage to bone and brain tissue; (3) suggesting hypotheses as to the dynamics of the event.
Materials and methods
Ten cadavers of people who died of a fatal head injury caused by a single gunshot were imaged with total-body CT prior to conventional autoptic examination. Three-dimensional-CT reconstructions were obtained with the volume-rendering technique, and data were analysed by two independent observers and compared with autopsy results.
Results
In our experience, CT analysis and volumetric reconstruction techniques allowed the identification of the bullet entrance and exit wounds and intracranial trajectory, as well as helping to formulate a hypothesis on the extracranial trajectory to corroborate circumstantial evidence.
Conclusions
CT imaging techniques are excellent tools for addressing the most important questions of forensic medicine in the case of gunshot wounds of the skull, with results as good as (or sometimes better than) traditional autoptic methods.
Background and Rationale of Study: The real-life data of triple therapy-based treatment in patients with chronic hepatitis C were investigated in this survey of 12 clinical centers of southern Italy. ...This retrospective study analyzed data from 176 consecutive patients.
125 (70%) patients were treated with telaprevir, and 51(30%) with boceprevir. There were no differences in demographic characteristics between the groups. The degree of Liver Fibrosis (LF) was evaluated according to Liver Biopsy (LB) and/or Transient Elastography (TE). 53/176 patients (30%) had liver cirrhosis. Sixteen patients (9%) were treatment naïve, and the remaining were not: 92 were non-responders (52, 84%), 63 relapsed (35,79%), and 5 discontinued treatment (2, 8%).
Overall, the rapid Virological Response (RVR) rate was 67.6%. Of the 103 patients who had follow-up for at least 12 weeks after the end of treatment, 61 (59, 2%) achieved a Sustained Virological Response (SVR). According to multivariate analysis for SVR, RVR was the only independent predictive factor of SVR, irrespective of the degree of LF and the type of response to previous treatments. In telaprevir-treated patients, the rate of RVR was similar in patients with F0-F2, F3 and F4 fibrosis (85%, 84%, 78%, respectively), and the SVR rates among RVR patients was similar irrespective of LF.
Data from this real-life study confirm the efficacy reported in clinical trials, although cirrhosis appears to play a smaller role in influencing treatment efficacy. Moreover, RVR is the only independent predictive factor of response regardless of cirrhosis. Based on RVR and for patients with cirrhosis, a shorter therapy might be considered, at least with telaprevir-based therapy.
The authors report their experience about a neuro-cognitive and epileptic long-term follow-up of children with catastrophic epilepsy treated with hemispherectomy in the first 5 years of life. ...Nineteen children with resistant epilepsy that significantly interfered with their neuro-cognitive development underwent hemispherectomy within 5 years of life (mean: 2 years, 3 months; range: 5 months to 5 years). All patients were assessed before surgery and after, at least at the end of the follow-up (mean: 6 years and 6 months; range: 2-11 years and 2 months) with a full clinical examination including motor ability and functional status evaluation as well as behaviour observation, neuroimaging and an ictal/interictal prolonged scalp video-EEG. A seizure-free outcome was obtained in 73.7% of patients. Gross motility generally improved and cognitive competence did not worsen, with an evident progress in two cases. Consistently with previous reports, evolution was worse in cortical dysplasia than in progressive or acquired vascular cerebropathies. The excellent epileptic outcome and the lack of developmental deterioration in comparison with other more aged series seem to suggest a possible better evolution in earlier surgery treatment. To confirm this suggestion, however, further experience with larger series is needed.
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