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Research Interests: Medicine and Glioblastoma
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OBJECTIVE: To assess the prognostic value of new asymptomatic spinal cord lesions (ASL) in a stable relapsing remitting multiple sclerosis (RRMS) population. BACKGROUND: Theimpact of ASL on disease progression in MS patients is poorly... more
OBJECTIVE: To assess the prognostic value of new asymptomatic spinal cord lesions (ASL) in a stable relapsing remitting multiple sclerosis (RRMS) population. BACKGROUND: Theimpact of ASL on disease progression in MS patients is poorly characterized. DESIGN/METHODS: We included all RRMS patients who received serial spinal-MRI (sMRI) with T2-weighted and post-Gadolinium (Gd) T1-weighted images, at baseline (sMRI t1) and within 12 to 36 months (sMRI t2) in condition of clinical stability (no relapses and no disability progression). Last clinical follow-up was defined as t3. Annualized relapse rate (ARR) and disability progression measured by the Expanded Disability Status Scale (EDSS) were evaluated in all patients between t2 and t3. RESULTS: Four-hundred-thirteen MS patients were screened, 308 were excluded [<2 evaluable sMRI (n=219); t1-t2 interval 蠅36 months (n=29); disease subtype other than RRMS (n=26); or clinically unstable (n=34)], resulting in 105 patients finally included. After a median t1 - t2 interval of 17 (IQR 13-26) months, 26 (24.8[percnt]) patients had 蠅1 new ASL, 4 (3.8[percnt]) had Gd enhancement. No differences in ARR and EDSS progression were found between patients with and without new ASL (p=0.22 and p=0.51, respectively). In multivariate analyses, baseline EDSS (β=0.98, p<0.001) and older age (β=0.03, p=0.02) were significant predictors of disability progression at t3, while presence of new ASL (OR 12.3; 95[percnt] CI 1.86-82.2, p=0.009) and male gender (OR 6.0; 95[percnt] CI2.1-15.5 p=0.001) were associated with an increased risk of relapses between t2 andt3. CONCLUSIONS: In our RRMS population, occurrence of new ASL was associated with an increased risk of subsequent relapses.These findings lend support to the employment of combined brain and spinal MRI in the clinical follow up routine of RRMS patients. Study Supported by: No financial support received. Disclosure: Dr. Chiara has received personal compensation for activities with Teva, Merck Serono, Biogen Idec, Bayer Schering, and Novartis as a consultant. Dr. Riccitelli has nothing to disclose. Dr. Pravata has nothing to disclose. Dr. Cianfoni has nothing to disclose. Dr. Staedler has nothing to disclose. Dr. Cereda has nothing to disclose. Dr. Disanto has nothing to disclose. Dr. Panicari has nothing to disclose. Dr. Gobbi has received personal compensation for activities with Teva, Merck Serono, Biogen Idec, Bayer Schering, Novartis, and Genzyme as a consultant.
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Dedicated 3D-T2-STIR-ZOOMit images improved substantially the detection of MS disease dissemination in the anterior visual pathways, particularly in the intracranial segments and in patients without past optic neuritis. BACKGROUND AND... more
Dedicated 3D-T2-STIR-ZOOMit images improved substantially the detection of MS disease dissemination in the anterior visual pathways, particularly in the intracranial segments and in patients without past optic neuritis. BACKGROUND AND PURPOSE: Demyelinating lesions in the anterior visual pathways represent an underestimated marker of disease dissemination in patients with MS. We prospectively investigated whether a dedicated high-resolution MR imaging technique, the 3D-T2-STIR-ZOOMit, improves demyelinating lesion detection compared with the current clinical standard sequence, the 2D-T2-STIR. MATERIALS AND METHODS: 3T MR imaging of the anterior visual pathways (optic nerves, chiasm, and tracts) was performed using 3D-T2-STIR-ZOOMit and 2D-T2-STIR, in patients with MS and healthy controls. Two experienced neuroradiologists assessed, independently, demyelinating lesions using both sequences separately. 3D-T2-STIR-ZOOMit scan-rescan reproducibility was tested in 12 patients. The Cohen κ was used for interrater agreement, and the intraclass correlation coefficient for reproducibility. Between-sequence detection differences and the effects of location and previous acute optic neuritis were assessed using a binomial mixed-effects model. RESULTS: Forty-eight patients with MS with (n = 19) or without (n = 29) past optic neuritis and 19 healthy controls were evaluated. Readers' agreement was strong (3D-T2-STIR-ZOOMit: 0.85; 2D-T2-STIR: 0.90). The 3D-T2-STIR-ZOOMit scan-rescan intraclass correlation coefficient was 0.97 (95% CI, 0.96–0.98; P < .001), indicating excellent reproducibility. Overall, 3D-T2-STIR-ZOOMit detected more than twice the demyelinating lesions (n = 89) than 2D-T2-STIR (n = 43) (OR = 2.7; 95% CI, 1.7–4.1; P < .001). In the intracranial anterior visual pathway segments, 33 of the 36 demyelinating lesions (91.7%) detected by 3D-T2-STIR-ZOOMit were not disclosed by 2D-T2-STIR. 3D-T2-STIR-ZOOMit increased detection of demyelinating lesion probability by 1.8-fold in patients with past optic neuritis (OR = 1.8; 95% CI, 1.2–3.1; P = .01) and 5.9-fold in patients without past optic neuritis (OR = 5.9; 95% CI, 2.5–13.8; P < .001). No false-positive demyelinating lesions were detected in healthy controls. CONCLUSIONS: Dedicated 3D-T2-STIR-ZOOMit images improved substantially the detection of MS disease dissemination in the anterior visual pathways, particularly in the intracranial segments and in patients without past optic neuritis.
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We aimed to investigate the influence of natalizumab (NTZ) treatment on multiple sclerosis course in patients with and without spinal involvement. Annualized relapse rate (ARR), disability progression and occurrence of new brain and... more
We aimed to investigate the influence of natalizumab (NTZ) treatment on multiple sclerosis course in patients with and without spinal involvement. Annualized relapse rate (ARR), disability progression and occurrence of new brain and spinal T2 lesions (N2TL) in 68 spinal (S-P) versus 68 non-spinal matched patients (NS-P) were retrospectively collected and compared between before (2 years) and after NTZ treatment using multivariate regression models. Mean duration of NTZ treatment was 31.3 ± 16.3 months in S-P and 32.1 ± 15.1 months in N-SP (p = 0.56). The mean ARR after NTZ treatment was similarly reduced in both S-P (0.07 ± 0.19) and N-SP (0.07 ± 0.16) (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001 for both). Disability progression after NTZ start was similarly low in S-P and NS-P. However, when compared to before NTZ start, disability progression was significantly reduced in S-P (p = 0.017), but not in NS-P (p = 0.68). This was largely mediated by a higher disability progression before NTZ start in S-P than N-SP. The risk of developing N2TL during NTZ was not different between S-P and NS-P (p = 0.10). NTZ similarly reduced the occurrence of relapses and NT2L in S-P and NS-P, whereas the effect on disability progression was particularly evident in the presence of spinal involvement. NTZ appears to be a treatment of high efficacy in both S-P and NS-P.
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To investigate the dynamic temporal changes of brain resting-state functional connectivity (RS-FC) following mental effort in multiple sclerosis (MS) patients with cognitive fatigue (CF). Twenty-two MS patients, 11 with (F) and 11 without... more
To investigate the dynamic temporal changes of brain resting-state functional connectivity (RS-FC) following mental effort in multiple sclerosis (MS) patients with cognitive fatigue (CF). Twenty-two MS patients, 11 with (F) and 11 without CF, and 12 healthy controls were included. Separate RS-FC scans were acquired on a 3T MR scanner immediately before (t0), immediately after (t1) and 30 minutes after (t2) execution of the paced auditory serial addition test (PASAT), a cognitively demanding task. Subjectively perceived CF after PASAT execution was also assessed. RS-FC changes were investigated by using a data-driven approach (the Intrinsic Connectivity Contrast-power), complemented by a priori defined regions of interest analyses. The F-group patients experienced stronger RS-FC at t2 between the left superior frontal gyrus (L-SFG) and occipital, frontal and temporal areas, which increased over time after PASAT execution. In the F-group patients, the L-SFG was hyperconnected at t1 with the left caudate nucleus and hypoconnected at t2 with the left anterior thalamus. These variations were correlated with both subjectively perceived and clinically assessed CF, and-for the left thalamus-with PASAT performance. The development of cortico-cortical and cortico-subcortical hyperconnectivity following mental effort is related to CF symptoms in MS patients.
Research Interests: Psychology, Multiple sclerosis, Audiology, Cognition, Magnetic Resonance Imaging, and 15 moreMedicine, Prefrontal Cortex, Brain, Humans, Thalamus, Female, Male, Clinical Sciences, Middle Aged, Adult, Mental Fatigue, Connectome, Neurosciences, Dorsolateral Prefrontal Cortex, and Paced Auditory Serial Addition Test
Background: The impact of new asymptomatic spinal cord lesions (a-SL) in multiple sclerosis (MS) course is poorly characterized. Objective: The objective of this research paper is to assess the prognostic value of a-SL in predicting MS... more
Background: The impact of new asymptomatic spinal cord lesions (a-SL) in multiple sclerosis (MS) course is poorly characterized. Objective: The objective of this research paper is to assess the prognostic value of a-SL in predicting MS course. Methods: Relapsing–remitting MS patients who received serial MRI (brain and spinal) at baseline (t1) and within 12 to 36 months (t2) during clinical stability, and had a follow-up (t2–t3) ⩾24 months were included. Relapses and disability progression were evaluated between t2 and t3. Results: Of 413 consecutive screened MS patients, 103 patients (65 females, median age 43 years) were included. After a median t1–t2 interval of 17 (IQR 13–26) months, 25.2% and 43.7% patients had ⩾1 new a-SL (a-SL+) and asymptomatic brain lesions (a-BL+), respectively. Relapse risk between t2 and t3 (median interval: 42 (IQR 32–57.5) months) was significantly increased in a-SL+ and/or a-BL+ vs a-BL– and a-SL– (HR = 2.31, 95% CI = 1.13–4.72, p = 0.02). No differences in the risk of disability progression were found in a-SL+ and/or a-BL+ vs a-SL- and a-BL–. Conclusion: a-SL occur in one-quarter of clinically stable RRMS, and combined with a-BL contribute significantly in predicting future disease course.
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A 66-year-old man was admitted to our department to investigate a 4-day history of right facial pain. Blood pressure was 180/90 mm Hg. Neurological examination and nonenhanced brain–computed tomography (CT) were unremarkable. The pain was... more
A 66-year-old man was admitted to our department to investigate a 4-day history of right facial pain. Blood pressure was 180/90 mm Hg. Neurological examination and nonenhanced brain–computed tomography (CT) were unremarkable. The pain was confined to right hemiface, involving eye, cheek, and mouth, without a typical trunk nerve distribution.The patient was admitted and an antihypertensive therapy was started. Because of pain persistence, a brain magnetic resonance imaging (MRI) and magnetic resonance (MR) angiography was obtained, revealing bilateral distal cervical nonocclusive internal carotid artery dissection (ICAD) (Figure). The MRI features of the mural hematoma suggested metachronous ICAD, with the right ICAD being more recent (Figure B,C). Extensive laboratory studies proved normal, including screening for systemic autoimmune disorders and thrombophilic conditions. Clinical visit and cardiological evaluation ruled out vascular conditions as fibromuscular dysplasia or Marfan syndrome. No cervical traumas or manipulations were reported. CT angiography of the neck vasculature confirmed the bilateral ICAD and showed the residual patency of the true lumen.Antiplatelet treatment was started, and the patient was discharged 3 days later. Headache resolved progressively in the following weeks.
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Vertebral augmentation has been used to treat painful vertebral compression fractures and metastatic lesions in millions of patients around the world. An international group of subject matter experts have considered the evidence,... more
Vertebral augmentation has been used to treat painful vertebral compression fractures and metastatic lesions in millions of patients around the world. An international group of subject matter experts have considered the evidence, including but not limited to mortality. These considerations led them to ask whether it is appropriate to allow the subjective measure of pain to so dominate the clinical decision of whether to proceed with augmentation. The discussions that ensued are related below.
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OBJECTIVESevere lytic cancerous lesions of the spine are associated with significant morbidity and treatment challenges. Stabilization and restoration of the axial load capability of the vertebral body (VB) are important to prevent or... more
OBJECTIVESevere lytic cancerous lesions of the spine are associated with significant morbidity and treatment challenges. Stabilization and restoration of the axial load capability of the vertebral body (VB) are important to prevent or arrest vertebral collapse. Percutaneous stent screw–assisted internal fixation (SAIF), which anchors a VB stent/cement complex with pedicular screws to the posterior vertebral elements, is a minimally invasive, image-guided, 360° internal fixation technique that can be utilized in this patient cohort. The purpose of this study was to assess the feasibility, safety, and stabilization efficacy of VB reconstruction via the SAIF technique in a cohort of patients with extensive lytic vertebral lesions, who were considered to have an unstable or potentially unstable spine according to the Spinal Instability Neoplastic Score (SINS).METHODSThis study was a retrospective assessment of a prospectively maintained database of a consecutive series of patients with ...
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Cerebral peri-aneurysmal edema (PE) is typically associated with giant partially-thrombosed aneurysms and less frequently with smaller aneurysms treated with endovascular embolization. An understanding of the pathophysiologic mechanism of... more
Cerebral peri-aneurysmal edema (PE) is typically associated with giant partially-thrombosed aneurysms and less frequently with smaller aneurysms treated with endovascular embolization. An understanding of the pathophysiologic mechanism of PE is still limited. We report 3 cases of cerebral aneurysms associated with PE. We describe 2 cases of giant partially thrombosed aneurysms surrounded by vasogenic edema with apposition of an intramural and juxtamural thrombus. Our third case is a smaller aneurysm inciting vasogenic edema several years after coil embolization. Vessel-wall magnetic resonance imaging (MRI) showed avid wall enhancement and an enhancing thrombus embedded within the coils, reflecting inflammation of the aneurysm wall and proliferation of the vasa vasorum. Thrombosis within the aneurysmal sac and walls, both in native and treated aneurysms, may promote inflammatory changes and sustain the occurrence of PE. Vessel-wall MRI has a potential role in the evaluation process o...
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No aspect of neurointerventional practice has been associated with as longstanding contention and debate as to its effectiveness as has vertebroplasty (VP). Four blinded randomized controlled trials published since 2009 have demonstrated... more
No aspect of neurointerventional practice has been associated with as longstanding contention and debate as to its effectiveness as has vertebroplasty (VP). Four blinded randomized controlled trials published since 2009 have demonstrated conflicting results regarding a conferred benefit in pain reduction and functional improvement for patients who undergo VP for osteoporotic vertebral compression fractures. Significant heterogeneity exists between each of these trials, which has resulted in difficulty for interventionalists and surgeons to translate the trial findings into routine clinical practice. In addition, patients and their families are ever more enlightened and enabled via the internet and social media to review both medical literature and websites. Without the proper background and context, their decisions may be lacking appropriate and necessary scientific discussion. This review article summarizes the randomized controlled trial data to date, with particular focus on the ...
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Virchow–Robin spaces or perivascular spaces are pial-lined fluid-filled interstitial spaces recognized throughout brain parenchyma along the path of penetrating vessels. Occasionally, they may become enlarged, cause mass effect, and be... more
Virchow–Robin spaces or perivascular spaces are pial-lined fluid-filled interstitial spaces recognized throughout brain parenchyma along the path of penetrating vessels. Occasionally, they may become enlarged, cause mass effect, and be mistaken for cystic neoplasms or infections. We report three cases of giant tumefactive perivascular spaces (GTPVS) incidentally found at brain magnetic resonance imaging (MRI). The lesions were multilocular cystic-appearing, isointense to cerebrospinal fluid on all pulse sequences, and did not enhance. They were located both in typical and atypical locations and in one case associated with hydrocephalus. We describe the key features of GTPVS on MRI and illustrate the need to acknowledge and promptly recognize these entities in daily practice in order to avoid unnecessary treatment.
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Background: The impact of new asymptomatic spinal cord lesions (a-SL) in multiple sclerosis (MS) course is poorly characterized. Objective: The objective of this research paper is to assess the prognostic value of a-SL in predicting MS... more
Background: The impact of new asymptomatic spinal cord lesions (a-SL) in multiple sclerosis (MS) course is poorly characterized. Objective: The objective of this research paper is to assess the prognostic value of a-SL in predicting MS course. Methods: Relapsing–remitting MS patients who received serial MRI (brain and spinal) at baseline (t1) and within 12 to 36 months (t2) during clinical stability, and had a follow-up (t2–t3) ⩾24 months were included. Relapses and disability progression were evaluated between t2 and t3. Results: Of 413 consecutive screened MS patients, 103 patients (65 females, median age 43 years) were included. After a median t1–t2 interval of 17 (IQR 13–26) months, 25.2% and 43.7% patients had ⩾1 new a-SL (a-SL+) and asymptomatic brain lesions (a-BL+), respectively. Relapse risk between t2 and t3 (median interval: 42 (IQR 32–57.5) months) was significantly increased in a-SL+ and/or a-BL+ vs a-BL– and a-SL– (HR = 2.31, 95% CI = 1.13–4.72, p = 0.02). No differenc...
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Background Spontaneous intracranial hypotension (SIH) is a debilitating condition requiring effective treatment; however, objective data on treatment response are scarce. Purpose To assess the suitability of the brain MRI-based SIH score... more
Background Spontaneous intracranial hypotension (SIH) is a debilitating condition requiring effective treatment; however, objective data on treatment response are scarce. Purpose To assess the suitability of the brain MRI-based SIH score (bSIH) for monitoring treatment success in SIH patients with a proven spinal cerebrospinal fluid (CSF) leak after microsurgical closure of the underlying dural breach. Methods This retrospective cohort study included consecutive SIH patients with a proven spinal CSF leak, investigated at dedicated referral centre January 2012 to March 2020. The bSIH score integrates 6 imaging findings; 3 major (2 points) and 3 minor (1 point), and ranges from 0 to 9, with 0 indicating low and 9 high probability of spinal CSF loss. The score was calculated using brain magnetic resonance imaging (MRI) before and after surgical treatment of the underlying CSF leak. Headache intensity was registered on a numeric rating scale (NRS) (range 0–10). Results In this study 52 SIH patients, 35 (67%) female, mean age 45.3 years, with a proven spinal CSF leak were included. The mean bSIH score decreased significantly from baseline to after surgical closure of the underlying dural breach (6.9 vs. 1.3, P < 0.001). A decrease in the NRS score was reported (8.6 vs. 1.2, P < 0.001). Conclusion The bSIH score is a simple tool which may serve to monitor treatment success in SIH patients after surgical closure of the underlying spinal dural leak. Its decrease after surgical closure of the underlying spinal dural breach indicates restoration of an equilibrium within the CSF compartment.
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OBJECTIVENavigation-enabling technology such as 3D-platform (O-arm) or intraoperative mobile CT (iCT-Airo) systems for use in spinal surgery has considerably improved accuracy over that of traditional fluoroscopy-guided techniques during... more
OBJECTIVENavigation-enabling technology such as 3D-platform (O-arm) or intraoperative mobile CT (iCT-Airo) systems for use in spinal surgery has considerably improved accuracy over that of traditional fluoroscopy-guided techniques during pedicular screw positioning. In this study, the authors compared 2 intraoperative imaging systems with navigation, available in their neurosurgical unit, in terms of the accuracy they provided for transpedicular screw fixation in the thoracic and lumbar spine.METHODSThe authors performed a retrospective analysis of clinical and surgical data of 263 consecutive patients who underwent thoracic and lumbar spine screw placement in the same center. Data on 97 patients who underwent surgery with iCT-Airo navigation (iCT-Airo group) and 166 with O-arm navigation (O-arm group) were analyzed. Most patients underwent surgery for a degenerative or traumatic condition that involved thoracic and lumbar pedicle screw fixation using an open or percutaneous techniq...
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Introduction/purpose Aim of this education exhibit is to offer an overview on image guided sympathetic blocks, focusing on specific indications and techniques, through the use of Fluoroscopy and/or CT imaging guidance, at each level of... more
Introduction/purpose Aim of this education exhibit is to offer an overview on image guided sympathetic blocks, focusing on specific indications and techniques, through the use of Fluoroscopy and/or CT imaging guidance, at each level of blockade. Materials and Methods Sympathetic blocks are used for diagnostic, prognostic and therapeutic purposes for painful and other conditions associated with sympathetic system dysfunctions. Main indications for sympathetic blockade are: Complex regional pain syndrome (CRPS), phantom limb pain, central pain, hyperhydrosis, acute pancreatitis, and abdominal viscera cancer pain. Stellate ganglion blocks are utilized for painful and non-painful conditions related to sympathetic dysfunctions of head, neck and upper extremities. Thoracic sympathetic blocks are utilized for CRPS, postoperative analgesia, pain from fractured ribs, therapeutic control of hyperhydrosis of the upper limbs and torso, liver capsule pain after blunt trauma, acute postherpetic neuralgia, and premature ventricular contractions. Coeliac plexus blocks are utilized in pain due to intra-abdominal cancer, stemming from organs innervated by coeliac plexus. Lumbar sympathetic blocks are utilized for CPRS of the lower extremities, herpes zoster, amputation stump pain and inoperable peripheral vascular vasospastic diseases of the lower limb. Superior hypogastric blocks are utilized for pelvic pain, and pelvic organs cancer pain (uterus, cervix, bladder, prostate, urethra, testes and ovaries). Impar ganglion blocks are utilized in coccydynia. Results The sympathetic nervous system has been implicated in numerous pain syndromes including neuropathic, vascular and visceral pain. In relation to this, in order to determine the sympathetic role in the transmission of pain and to manage these algic syndromes, sympathetic ganglia are targeted for local anesthetic blocks, for diagnostic, prognostic, and therapeutic purposes, balanced in a more complex pain treatment strategy, in the treatment of CRPS and other pain conditions. Safe and precise performance of these blocks requires knowledge of the loco-regional anatomy, accurate imaging guidance, and rigorous technique. Elements of relevant fluoroscopic and cross sectional anatomy, as well as procedural technique elements are discussed and displayed. Conclusion This educational exhibit summarizes the indications, the anatomy and the techniques, under Fluoroscopy or CT guidance, for the sympathetic blocks. Competing interests None.
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Research Interests: Neuroimaging and Medicine
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Delayed cerebral ischemia (DCI) is a frequent cause of morbidity and mortality in patients with cerebral vasospasm (CV) following aneurysmal subarachnoid hemorrhage (aSAH). Refractory CV remains challenging to treat and often leads to... more
Delayed cerebral ischemia (DCI) is a frequent cause of morbidity and mortality in patients with cerebral vasospasm (CV) following aneurysmal subarachnoid hemorrhage (aSAH). Refractory CV remains challenging to treat and often leads to permanent deficits and death despite aggressive therapy. We hereby report the feasibility and safety of stellate ganglion block (SGB) performed with a vascular roadmap-guided technique to minimize the risk of accidental vascular puncture and may be coupled to a diagnostic or therapeutic cerebral angiography. In addition to a detailed description of the technique, we performed a retrospective analysis of a series of consecutive patients with refractory CV after aSAH that were treated with adjuvant roadmap-guided SGB. Clinical outcomes at discharge are reported. Nineteen SGB procedures were performed in 10 patients, after failure of traditional hemodynamic and endovascular treatments. Each patient received 1 to 3 SGB, usually interspaced by 24 h. In 4 patients, an indwelling microcatheter for continuous infusion was inserted. First SGB occurred on average 7.3 days after aSAH. SGB was coupled to intra-arterial nimodipine infusion or balloon angioplasty in 9 patients. SGB was technically successful in all patients. There were no technical or clinical complications. Adjuvant SGB may be coupled to endovascular therapy to treat refractory cerebral vasopasm within the same session. To guide needle placement, using a roadmap of the supra-aortic arteries may decrease the risk of complications. More prospective data is needed to evaluate the therapeutic efficacy, durability, and safety of SGB compared with the established standard of care.
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Research Interests: Psychology, Audiology, Magnetic Resonance Imaging, Medicine, Humans, and 15 moreChild, Hallucinations, Clinical, Male, Dissociative disorders, Differential Diagnosis, Clinical Sciences, Polysomnography, Demyelination, Eye Movement, Rem Sleep, Psychotic Disorders, Brain stem, Internuclear Ophthalmoplegia, and Demyelinating diseases
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The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate... more
The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate cephalometry and otorhinolaryngologic evaluation with clinical and polysomnographic features of FHSD patients with OSAS. Patients were 13 adults affected by genetically confirmed FSHD and OSAS, 11 men, with mean age 47.1 ± 12.8 years (range, 33-72 years). All underwent clinical evaluation, Manual Muscle Test, Clinical Severity Scale for FSHD, Epworth Sleepiness Scale, polysomnography, otorhinolaryngologic evaluation, and cephalometry. Cephalometric evidence of pharyngeal narrowing [posterior airways space (PAS) &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 10 mm] was present in only one patient. The mandibular planus and hyoid (MP-H) distance ranged from 6.5 to 33.1 mm (mean, 17.5 ± 7.8 mm). The mean length of soft palate (PNS-P) was 31.9 ± 4.8 mm (range, 22.2 to 39.7 mm). No patient presented an ANB angle &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; 7°. There was no significant correlation between cephalometric measures, clinical scores, and PSG indexes. PAS and MP-H were not related to the severity of the disease. Upper airway morphological evaluation is of poor utility in the clinical assessment of FSHD patients and do not allow to predict the occurrence of sleep-related upper airway obstruction. This suggests that the pathogenesis of OSAS in FSHD is dependent on the muscular impairment, rather than to the anatomy of upper airways.
Research Interests: Genetics, Medicine, Italy, Cephalometry, Humans, and 15 moreObstructive sleep apnea, Muscular Dystrophy, Female, Male, Body Mass Index, Clinical Sciences, Aged, Middle Aged, Adult, Airway, Clinical Assessment, Indexation, Clinical evaluation, Facioscapulohumeral Muscular Dystrophy, and Epworth sleepiness scale
The incidence of headache at the onset of relapsing-remitting pediatric multiple sclerosis (MS) is more frequent than in the adult MS population, but headache as the only symptom of a relapse, both in adults and children, is unusual. Here... more
The incidence of headache at the onset of relapsing-remitting pediatric multiple sclerosis (MS) is more frequent than in the adult MS population, but headache as the only symptom of a relapse, both in adults and children, is unusual. Here we describe the case of a 5-year-old child who developed MS and in whom migraine-like headache was the presenting symptom at both the onset of the disease and the following 2 relapses. Moreover, the first relapse was characterized by the occurrence of headache that fulfilled the time criteria for status migrainosus. The presence of headache during MS might depend on the anatomic distribution of lesions. In our case, the demyelinating plaques localized in the midbrain, the periaqueductal gray matter, and the upper cervical cord together with the meningeal reaction and the diffuse brain swelling might have caused the onset of migraine-like headache and the status migrainosus. The causal relationship between headache and MS attacks, in our case, was a...
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Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the... more
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7+/-12.3 years (range: 26-72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography. Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDB was not related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.