32 documents found, page 1 of 4
Misdiagnosis of Surgical Conditions in ALS Patients: Analysis of a single-cente...
Martins, Miguel; Marta Gromicho; Oliveira Santos, Miguel; de Carvalho, MamedeIntroduction: In amyotrophic lateral sclerosis (ALS) late or incorrect diagnosis significantly reduces the therapeutic window, while also increasing the risk of inappropriate interventions, with a negative impact on disease progression rate. Objectives: We aim to identify and characterize the clinical profile of ALS patients followed in our center who underwent surgeries due misdiagnosis, and to review the lite...
The role of gastrostomy and noninvasive ventilation in primary lateral sclerosis
Oliveira Santos, Miguel; Domingues, Sara; Simão, Sara; Gromicho, Marta; Alves, Inês; Carvalho, MamedeIntroduction/aims: Literature on the role of gastrostomy and noninvasive ventilation (NIV) in primary lateral sclerosis (PLS) is limited. We aim to investigate whether PLS patients develop dysphagia requiring feeding tubes or respiratory failure necessitating NIV. Methods: We conducted a retrospective study of PLS patients with a definite diagnosis followed at our center (1994-2024). Patients with marked dyspha...
Effect of electrode size in phrenic nerve CMAP
Castro, José; Oliveira Santos, Miguel; Carvalho, MamedePhrenic nerve (PN) investigation is a simple and safe non-invasive diagnostic tool widely utilized in assessing respiratory failure in patients with neuromuscular disorders [10]. In amyotrophic lateral sclerosis (ALS), PN amplitude has been shown to correlate with forced vital capacity, serving as a predictor of hypoventilation and survival. In intensive care units (ICU), PNI study can also provide valuable inf...
Subclinical involvement of small hand muscles in early amyotrophic lateral scle...
Carvalho, Mamede; Oliveira Santos, Miguel; Swash, MichaelObjectives: Split-hand phenomenon is common in patients with amyotrophic lateral sclerosis (ALS), but it is unknown if first dorsal interosseous (FDI) and abductor pollicis brevis (ABP) are affected earlier than abductor digiti minimi (ADM). We aimed to address this issue. Methods: One clinically normal hand from ALS patients was investigated, including needle EMG of the FDI, motor amplitude, distal latency, F-...
Epilepsy Secondary to Occipital Cobblestone Malformation in an Adult Patient wi...
Schön, Miguel; Bentes, Carla; Morgado, Carlos; Oliveira Santos, MiguelN/a.; N/a.
The Incidence of Guillain-Barré Syndrome during COVID-19 Pandemic: A Portuguese...
Vítor, Joana; Moniz Dionísio, Joana; Campos, Catarina; Oliveira Santos, Miguel; Cruz, Simão; Castelo, Juliana; Castro, José; Castro, IsabelIntroduction: Guillain-Barré syndrome (GBS) is a rare peripheral nervous system inflammatory disease with an annual estimated incidence of 1-2/100 000. Several studies relate GBS with vaccination, especially against influenza. The literature is discordant on GBS incidence during the pandemic. Additionally, while vaccination is globally ongoing, GBS cases have been associated with an inoculation against SARS-CoV...
Segmental motor neuron dysfunction in amyotrophic lateral sclerosis: Insights f...
Castro, José; Oliveira Santos, Miguel; Swash, Michael; Carvalho, MamedeIntroduction/aims: In amyotrophic lateral sclerosis (ALS), the role of spinal interneurons in ALS is underrecognized. We aimed to investigate pre- and post-synaptic modulation of spinal motor neuron excitability by studying the H reflex, to understand spinal interneuron function in ALS. Methods: We evaluated the soleus H reflex, and three different modulation paradigms, to study segmental spinal inhibitory mech...
Profiling tofersen as a treatment of superoxide dismutase 1 amyotrophic lateral...
Oliveira Santos, Miguel; Carvalho, MamedeIntroduction: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive motor neuron disorder with a fatal outcome 3-5 years after disease onset due to respiratory complications. Superoxide dismutase 1 (SOD1) mutations are found in about 2% of all patients. Tofersen is a novel oligonucleotide antisense drug specifically developed to treat SOD1-ALS patients. Areas covered: Our review covers and discusses tofe...
Nusinersen treatment in a type 3 spinal muscular atrophy patient during early p...
Schön, Miguel; Domingues, Sara; Carvalho, Mamede; Oliveira Santos, MiguelSpinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder usually caused by biallelic mutations in the SMN1 gene on chromosome 5q13.2, which leads to a progressive degeneration of lower motor neurons nuclei in the spinal cord and brainstem. It is characterized by a progressive atrophy and proximal muscle weakness, with a variable degree of bulbar and/or respiratory muscle involvement, depend...
Clinical characteristics in amyotrophic lateral sclerosis with Sub-Saharan Afri...
Oliveira Santos, Miguel; Gromicho, Marta; Pinto, Susana; Pronto Laborinho, Ana Catarina; Carvalho, MamedeAmyotrophic lateral sclerosis (ALS) is a rapidly progressive condition characterized by upper and lower motor neuron loss. Over the last decades, epidemiological and clinical data from European, North America and high-incoming Asia-Pacific countries has been extensively collected and analyzed, improving the knowledge regarding ALS. However, ALS had not been reported in Africans until 1955. Even today, data from...