Browsing by Author "Machado, S"
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- AVC e alterações cutâneasPublication . Neves, P; Martins, R; Peres, J; Machado, S; Campillo, J; Herrero Valverde, A
- Headache as the sole presentation of cerebral venous thrombosis: a prospective studyPublication . Timóteo, A; Inácio, N; Machado, S; Pinto, A; Parreira, EHeadache is the most frequent presenting symptom of cerebral venous thrombosis (CVT), most commonly associated with other manifestations. It has been described as its only clinical presentation in 15 % of patients. There is no typical pattern of headache in CVT. The objective of this study was to study the characteristics of headache as the sole manifestation of CVT. From a prospective study of 30 consecutive patients diagnosed with CVT over 18 months, we selected those who presented with headache only: they had a normal neurological examination, no papilloedema and no blood or any parenchymal lesion on CT scan. All were submitted to a systematic etiological workup and a structured questionnaire about the characteristics of headache was provided. Headache was the sole manifestation of CVT in 12 patients; it was diffuse or bilateral in the majority. Seven patients referred worsening with sleep/lying down, Valsalva maneuvers or straining. There was no association between the characteristics of headache and extension of CVT. Time from onset to diagnosis was significantly delayed in these patients presenting only with headache. In our series, 40 % of patients presented only with headache. There was no uniform pattern of headache apart from being bilateral. There was a significant delay of diagnosis in these patients. Some characteristics of headache should raise the suspicion of CVT: recent persistent headache, thunderclap headache or pain worsening with straining, sleep/lying down or Valsalva maneuvers even in the absence of papilloedema or focal signs.
- Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.Publication . Pina, S; Pedrosa, C; Feijóo, B; Machado, S; Prieto, I; Costa, C; Santos, MJThe authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for signs of this ectasia in these patients.
- In-Hospital and Long-Term Prognosis after Spontaneous Intracerebral Hemorrhage among Young Adults Aged 18-65 YearsPublication . Bernardo, F; Rebordão, L; Machado, S; Salgado, V; Pinto, ABACKGROUND: Spontaneous intracerebral hemorrhage (ICH) accounts for 10%-15% of all strokes and has an estimated annual incidence of 5/100,000 in young adults. Limited data on prognosis after ICH in young adults are available. We aimed to identify prognostic predictors after ICH among adults aged 18-65 years. METHODS: We retrospectively selected all patients with ICH from a prospective single-center registry of adults with first stroke before 65 years between 1997 and 2002. We recorded in-hospital mortality as well as mortality and recurrent stroke after discharge until December 1, 2018. For in-hospital analysis, we compared patients that died in-hospital versus patients discharged alive. For long-term analysis, we compared patients that died in follow-up versus patients still alive. Independent prognostic predictors were identified using multivariate analyses. RESULTS: Among 161 patients included, 24 (14.9%) died in-hospital. Among in-hospital survivors, 5-year survival was 92.0%, 10-year survival 78.1%, and 15-year survival 62.0%. After median follow-up of 17 years, 47.4% of patients died, 18 patients had ischemic stroke, and 6 recurrent ICH. Regarding in-hospital prognosis, coma at admission (OR .02 [.00-.11]) was independent predictor for mortality whereas alcoholic habits (OR 12.32 [1.82-83.30]) was independent predictor for survival. An increasing age (OR 1.08 [1.03-1.12]), higher blood glucose levels (OR 1.01 [1.00-1.01]), and hypertension (OR 2.21 [1.22-4.00]) were independent predictors of long-term mortality after ICH. CONCLUSIONS: Alcoholic habits may influence in-hospital survival after ICH in young adults. Long-term mortality in young adults seems to be lower than in elderly and was predicted by higher blood glucose levels and hypertension.
- key points in differential diagnosis in myasthenic syndromesPublication . Machado, S; Pires, C; Manji, HNeuromuscular junction disorders are a heterogeneous group most often caused by imune or genetic abnormalities. They comprise Myasthenia Gravis, Lambert-Eaton Syndrome and Congenital Myasthenic Syndromes. Despite affecting different parts of the synapse, they share clinical and neurophysiological features, posing a diagnostic challenge. These disorders can be divided in subgroups, according to the causing antibody or genetic defect. However, there are no established clinical criteria and the accurate diagnosis is highly dependent on the recognition of phenotypes. The identification of clues both in the history and examination may be precious to the correct diagnosis. Treatment depends on the underlying abnormality and the prognosis is generally good. However, more severe forms of Myasthenia Gravis and paraneoplastic: Lambert-Eatom Myasthenic Syndrome are recognized.
- Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversityPublication . Bernardo, F; Rebordão, L; Rêgo, A; Machado, S; Passos, J; Costa, C; Cruz, S; Pinto, A; Santos, MStiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.
- What should you know about limbic encephalitis?Publication . Machado, S; Pinto, A; Irani, SAutoimmune encephalitis is an inflammatory disorder characterized by a subacute impairment of short-term memory, psychiatric features and seizures. It is often associated with a variety of other neurological symptoms, and its differential diagnosis is wide, leading to challenges in its recognition. It used to be regarded as a rare disease, usually paraneoplastic and with poor prognosis. However, with the recent recognition of membrane-surface directed antibodies, it is now known that in a substantial proportion of cases there is no association with any malignancy and there is a good prognosis if treated. Hence, early recognition and prompt initiation of immunotherapies are of great importance.