Design and Application of Automated Algorithms for Diagnosis and Treatment Optimization in Neurodegenerative Diseases.

Neurodegenerative diseases represent a growing healthcare problem, mainly related to an aging population worldwide and thus their increasing prevalence. In particular, Alzheimer's disease (AD) and Parkinson's disease (PD) are leading neurodegenerative diseases. To aid their diagnosis and optimize treatment, we have developed a classification algorithm for AD to manipulate magnetic resonance images (MRI) stored in a large database of patients, containing 1,200 images. The algorithm can predict whether a patient is healthy, has mild cognitive impairment, or already has AD. We then applied this classification algorithm to therapeutic outcomes in PD after treatment with deep brain stimulation (DBS), to assess which stereotactic variables were the most important to consider when performing surgery in this indication. Here, we describe the stereotactic system used for DBS procedures, and compare different planning methods with the gold standard normally used (i.e., neurophysiological coordinates recorded intraoperatively). We used information collected from database of 72 DBS electrodes implanted in PD patients, and assessed the potentially most beneficial ranges of deviation within planning and neurophysiological coordinates from the operating room, to provide neurosurgeons with additional landmarks that may help to optimize outcomes: we observed that x coordinate deviation within CT scan and gold standard intra-operative neurophysiological coordinates is a robust matric to pre-assess positive therapy outcomes- "good therapy" prediction if deviation is higher than 2.5 mm. When being less than 2.5 mm, adding directly calculated variables deviation (on Y and Z axis) would lead to specific assessment of "very good therapy".

Long-Term Results of Deep Brain Stimulation of the Mamillotegmental Fasciculus in Chronic Cluster Headache.

BACKGROUND: Deep brain stimulation (DBS) and the proper target for chronic cluster headache (CCH) are still subjects of controversy. OBJECTIVES: We present our long-term results of analysis of the target and its structural connectivity. METHODS: Fifteen patients with drug-resistant CCH underwent DBS in coordinates 4 mm lateral to the III ventricular wall and 2 mm behind and 5 mm below the intercommissural point. The clinical parameters recorded were the number of weekly attacks, pain intensity, and duration of the headache. Structural connectivity was studied using 3-T MR diffusion tensor imaging (DTI). RESULTS: All of our patients improved from a mean of 39 attacks/week to 2; pain intensity decreased from 9 to 3 out of 10, and the mean cephalalgia duration decreased from 53 to 8 min. The mean stereotactic coordinates of the effective contact location were 6.1 mm lateral to the midcommissural point and 1.2 mm behind and 4.0 mm below the intercommissural point. DTI analysis showed that this target was connected to tracts and nuclei of the posterior mesencephalic tegmentum, specifically the dorsal longitudinal and mamillotegmental fasciculi. CONCLUSIONS: Our data showed DBS to be a safe and useful procedure for the treatment of drug-resistant CCH; the rate of improvement was higher than those found in other series. Although these are promising results, larger series targeting those fasciculi with a longer follow-up are needed.

Cavernous sinus thrombosis during pregnancy.

Cavernous sinus thrombosis (CST) represents a rare but devastating disease process that may be associated with significant long-term patient morbidity or mortality. Rapid diagnosis and aggressive medical and surgical management are imperative for patients with CST. We present the case of a 24-year-old pregnant woman with intraorbital abscess and CST secondary to Streptococcus milleri. Surgical intervention included orbital abscess drainage and dental extraction, medical therapy included intravenous antibiotic, heparin, and methylprednisolone and an elective cesarean section was performed. The latter was the key point to resolution the disease.

Chronic migraine does not increase posterior circulation territory (PCT) infarct-like lesions.

UNLABELLED: Two population-based studies have found an increased prevalence of posterior circulation territory (PCT) infarct-like lesions in migraine, which seemed to increase with attack frequency. OBJECTIVE: To determine whether chronic migraine (CM) patients are at increased risk of PCT infarct-like lesions. METHODS: We prospectively obtained brain MRIs from adult women fulfilling CM criteria. To keep radiologists blinded we also obtained brain MRIs in 15 episodic migraine (EM) patients. MRIs were acquired on a 1.5 T unit. Protocol included whole brain weighted images in sagittal T1 (5 mm slices), axial FLAIR T2 (3 mm) and combined proton density and T2 fast spin echo (3 mm). Two independent neuroradiologists carefully analyzed all the images. RESULTS: One hundred women with CM participated. Their ages ranged from 18 to 68 years (mean 43.7) and the length of CM ranged from 0.5 to 38 years (mean 9.8). Sixty-three patients (63%) had at least one vascular risk factor. Thirty-three met analgesic overuse criteria. Fifty-one had a history of migraine with aura attacks, though aura frequency was below one per month in all patients except one. Eleven were not on preventatives. We found PCT infarct-like lesions in only 6 CM patients aged 42-64 years (mean age 54 years) who had at least two vascular risk factors. CONCLUSIONS: As frequency of PCT infarct-like lesions in our CM patients was in the low range than that found for EM in general population studies, we conclude that frequency of migraine attacks itself is not a factor increasing PCT infarct-like lesion risk.

Headache as a crucial symptom in the etiology of convexal subarachnoid hemorrhage.

BACKGROUND: Convexal subarachnoid hemorrhage has been associated with different diseases, reversible cerebral vasoconstriction syndrome and cerebral amyloid angiopathy being the 2 main causes. OBJECTIVE: To investigate whether headache at onset is determinant in identifying the underlying etiology for convexal subarachnoid hemorrhage. METHODS: After searching in the database of our hospital, 24 patients were found with convexal subarachnoid hemorrhage in the last 10 years. The mean age of the sample was 69.5 years. We recorded data referring to demographics, symptoms and neuroimaging. RESULTS: Cerebral amyloid angiopathy patients accounted for 46% of the sample, 13% were diagnosed with reversible cerebral vasoconstriction syndrome, 16% with several other etiologies, and in 25%, the cause remained unknown. Mild headache was present only in 1 (9%) of the 11 cerebral amyloid angiopathy patients, while severe headache was the dominant feature in 86% of cases of the remaining etiologies. CONCLUSION: Headache is a key symptom allowing a presumptive etiological diagnosis of convexal subarachnoid hemorrhage. While the absence of headache suggests cerebral amyloid angiopathy as the more probable cause, severe headache obliges us to rule out other etiologies, such as reversible cerebral vasoconstriction syndrome.

Complex partial status epilepticus in a patient with Crohn's disease.

Few cases of Crohn's disease complicated with meningitis and epidural abscess have been described in literature. We present a case of a 42-year-old former smoker female patient diagnosed with Crohn's disease in September 1995 (with severe nutritional problems). On 20 February 2012, she was admitted due to a probable sepsis (without any previous treatment). After several days she developed a confusion syndrome (probable Wernicke's disease). On 5 March 2012, the patient presented with a febrile episode of 39 ° C. Two days later, the patient presented aphasia and paraparesis, and 3 days later she presented a complex partial status epilepticus. A lumbar puncture was performed and showed 131 leucocytes (63% granulocytes) and proteins 296.3. The abdominopelvic CT scan revealed a presacral collection that seem to extend cranially towards the lumbosacral spine. The lumbar MRI confirmed the lumbar epidural abscess secondary to the fistulisation of the presacral abscess.

[Isolated left ventricular non-compaction associated with Ebstein's anomaly. Multimodality non-invasive imaging for the assessment of congenital heart disease]. / Miocardiopatía no compactada asociada a anomalía de Ebstein. Importancia de la imagen cardiaca multimodal en las cardiopatías congénitas.

To establish the etiology of heart failure in patients with congenital heart disease can be challenging. Multiple concomitant anomalies that can be missed after an initial diagnosis could be seen in these patients. In patients with congenital heart disease, a more accurate evaluation of cardiac morphology and left ventricular systolic function could be evaluated by recent non-invasive cardiac imaging techniques. We present a rare case where multimodal cardiac imaging was useful to establish the final diagnosis of left ventricular non-compaction associated with Ebstein's anomaly.

Left ventricle non-compaction cardiomyopathy: Different clinical scenarios and magnetic resonance imaging findings / Miocardiopatía no compactada: diferentes escenarios clínicos y hallazgos en cardiorresonancia magnética

Left ventricle non-compaction cardiomyopathy is currently considered as a well-defined individual entity. However, it includes a broad spectrum of clinical, radiological and pathophysiological findings. In this review we describe 3 different scenarios of this entity: an isolated case with severe left ventricle dysfunction, an "associated" case in a patient with previous atrial septum defect and pulmonary stenosis and finally, as a finding in a patient with a transient cerebrovascular ischemic attack. In the 2 last cases, both asymptomatic, morphological criteria of left ventricle non-compaction were found but, ventricular function was normal and cardiac-MRI showed no late gadolinium hyperenhancement. Periodical follow-up and familial screening were recommended. Natural history and prognosis factors of this disease are still not well known. Further and longer series of patients with this diagnosis are needed to completely define radiological criteria, clinical presentation and evolution.

La miocardiopatía no compactada está considerada actualmente como una entidad independiente y bien definida. Sin embargo, presenta un espectro amplio de hallazgos clínicos, radiológicos y fisiopatológicos. En la presente revisión describimos 3 escenarios clínicos diferentes de dicha entidad: un caso con disfunción ventricular severa, un caso como entidad «asociada¼ a una cardiopatía congènita en un pacientes con un defecto del septo interauricular previo y estenosis pulmonar, y finalmente, como un hallazgo casual en un paciente con un accidente cerebrovascular transitorio. En estos 2 últimos casos se encontraron criterios morfológicos de miocardiopatía no compactada con función ventricular normal y sin presencia de realce tardío de gadolinio en el estudio de cardio-RM. En todos ellos se recomendó estudio familiar. La historia natural y el pronóstico de esta anatomía patológica no son todavía del todo conocidos. Series mayores y seguimiento más largos son necesarios para definir completamente los criterios radiológicos, la presentación clínica y la evolución de esta fascinante entidad.

Left ventricle non-compaction cardiomyopathy: different clinical scenarios and magnetic resonance imaging findings.

Left ventricle non-compaction cardiomyopathy is currently considered as a well-defined individual entity. However, it includes a broad spectrum of clinical, radiological and pathophysiological findings. In this review we describe 3 different scenarios of this entity: an isolated case with severe left ventricle dysfunction, an "associated" case in a patient with previous atrial septum defect and pulmonary stenosis and finally, as a finding in a patient with a transient cerebrovascular ischemic attack. In the 2 last cases, both asymptomatic, morphological criteria of left ventricle non-compaction were found but, ventricular function was normal and cardiac-MRI showed no late gadolinium hyperenhancement. Periodical follow-up and familial screening were recommended. Natural history and prognosis factors of this disease are still not well known. Further and longer series of patients with this diagnosis are needed to completely define radiological criteria, clinical presentation and evolution.

Fluctuating neurological symptoms in demyelinating disease mimicking an acute ischaemic stroke.

Fluctuating neurological symptoms in an older patient most often point towards a cerebral ischaemic pathology. The authors present a 66-year-old male patient suffering from a fluctuating right hemiparesis, with an initial diagnosis of ischaemic stroke. The brain and cervical MRI showed demyelinating lesions with abnormal cerebrospinal fluid (CSF) and visual evoked potentials and the patient was successfully treated with intravenous corticosteroids. Demyelinating disease in older patients could be more frequent than expected. It should be considered even in older patients with fluctuating neurological symptoms. MRI and CSF analysis are critical to provide an accurate diagnosis.

Miopericarditis en paciente con colitis ulcerosa en tratamiento con mesalacina / Myopericarditis in a patient with ulcerative colitis treated with mesalazine

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