A5091468285- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Autism Spectrum Disorder Research
- EEG and Brain-Computer Interfaces
- RNA modifications and cancer
- Cerebral Venous Sinus Thrombosis
- Orthopedic Infections and Treatments
- Lysosomal Storage Disorders Research
- Autoimmune and Inflammatory Disorders Research
- Streptococcal Infections and Treatments
- Cytomegalovirus and herpesvirus research
- Migraine and Headache Studies
- Genomics and Rare Diseases
- Neurological Complications and Syndromes
- Infectious Diseases and Tuberculosis
- ATP Synthase and ATPases Research
- Neuroscience and Neuropharmacology Research
- Vascular Malformations Diagnosis and Treatment
- Neurological diseases and metabolism
- Infectious Encephalopathies and Encephalitis
ORCID
2024-2025
Universidade do Oeste Paulista
2024-2025
Fundação Faculdade de Medicina
2025
Weatherford College
2025
Universidade Federal de Catalão
2025
Administração Regional de Saúde de Lisboa e Vale do Tejo
2025
Centro Universitário Barão de Mauá
2024
Hospital de Dona Estefânia
2012-2023
Centro Hospitalar de Lisboa Central
2012-2023
Universidade Nova de Lisboa
2023
<h3>Background</h3> The aim of this work was to identify new genetic causes Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. <h3>Methods results</h3> We studied cohort 19 Portuguese patients (16 girls, 3 boys) with clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering the single nucleotide variants indels preference for de novo, homozygous/compound heterozygous, or maternally inherited...
Abstract Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic hypokinetic state, and large series abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, rigidity. The aim this work was analyze disorders in RS patients with detected MECP2 mutation, well correlation genotype, clinically genetically well‐characterized sample patients, thus contribute redefine clinical...
Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and usually described as symmetric movements at the midline. However, related pathologies may show same type involuntary movement. Furthermore, patients with RTT also have other localizations that less well characterized.We analyzed in 83 RTT, 53 30 without mutation detected MECP2 gene. Patients were observed videotaped always by pediatric neurologist. Stereotypies classified, data submitted to statistical analysis for...
We report a female patient with situs inversus, dextrocardia, complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models this disorder implicate ciliary function in genesis hydrocephalus, 11 patients were previously reported syndrome primary dyskinesia. Primary dyskinesia–associated stenosis should be considered as possible cause for fetal or neonatal if heterotaxy, malformations, and/or...
INTRODUCTION: Gastric cancer, predominantly adenocarcinoma, is the fifth most common neoplasm and third leading cause of cancer death globally, with a higher incidence in regions such as Asia Latin America due to cultural factors high prevalence Helicobacter pylori [1,2,3].Gastrectomy, traditionally performed by open route, considered gold standard, but laparoscopy has emerged an alternative, offering faster recovery fewer complications, despite technical challenges longer learning curve...
Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome characterized by uncontrolled immune activation, often associated with malignancy in adults. Early recognition and prompt initiation of treatment are crucial managing this condition due to its rapid progression poor prognosis. We report the case 75-year-old male suspected lymphoproliferative disease who presented clinical criteria compatible HLH. Immediate dexamethasone led improvement, patient was referred...
This study, conducted through an integrative literature review, aims to highlight the importance of first aid guidance for pregnant women during prenatal care, with emphasis on managing infant choking using Heimlich Maneuver. The analysis twelve scientific articles revealed that most do not receive adequate information neonatal emergencies consultations. lack this knowledge may compromise safety newborns, emphasizing need include topic in nursing nurse plays a key role promoting health...
Methadone is used in the treatment of opioid addiction. Acute intoxication can lead to severe consequences and even be lethal. In several case reports small series, a presumably toxic leukoencephalopathy described resulting from inhalation heroin. We present 3-year-old boy who ingested methadone accidentally. coma with acute obstructive hydrocephalus owing massive cerebellar edema supratentorial lesions, he was successfully treated methylprednisolone cerebrospinal fluid external drainage. To...
We report the case of a 9-year-old girl admitted with fever, headache, and cerebrospinal fluid lymphocytic pleocytosis. Polymerase chain reaction was positive for human herpes virus 6. She subsequently developed ataxia bilateral loss vision. Magnetic resonance imaging (MRI) showed optic nerve lesions extension to chiasm short-segment myelitis. Serologic studies were Borrelia burgdorferi IgM. Anti-aquaporin 4 antibody negative anti-myelin oligodendrocyte glycoprotein (MOG) positive. After...
The patient was the only child of healthy, unrelated parents. During gestation a cleft lip and palate were detected. fetal karyotype considered normal. Vaginal delivery at 39 weeks. Birth weight 2,750 g length 49 cm. Additional dysmorphic features included microcephaly, downslanting small palpebral fissures, abnormal external ears with thick helix, single palmar creases bilaterally, partial syndactyly between second third toes. Neurologic examination Cardiologic revealed interventricular...
We report the case of a boy with an encephalopathy associated extrapyramidal and psychiatric symptoms anti-N-methyl-D-aspartate receptor antibodies. He had positive serum antithyroid antibodies, IgM antibodies against Mycoplasma pneumoniae human herpesvirus 7 polymerase chain reaction in cerebrospinal fluid. was successfully treated rituximab, after steroids, intravenous immunoglobulin plasma exchange. The pathophysiology this disorder may be post-infectious autoimmune.
Childhood absence epilepsy (CAE) is a syndrome with well-defined electroclinical features but unknown pathological basis. An increased thalamic tonic GABA inhibition has recently been discovered on animal models (Cope et al., 2009), its relevance for human CAE unproven.We studied an 11-year-old boy, presenting the typical clinical of CAE, spike-wave discharges (SWD) restricted to one hemisphere.High-resolution EEG failed demonstrate independent contralateral hemisphere epileptic activity....