Clinical examination neurologist

INTRODUCTION: Restless Legs Syndrome (RLS) is a neurological disorder primarily treated with pregabalin and gabapentin, followed by dopamine agonists later in the process due to the risk of augmenting RLS symptoms. In addition, clinical reports have disclosed varying degrees of success employing other agents in patients unresponsive to traditional agents. Here, we present a patient who had success in the reduction of RLS symptoms with lamotrigine, a broad-spectrum anticonvulsant. Previously, lamotrigine had been used in 2 trials with successful treatment of RLS...

Severe vision impairment and blindness in childhood have a significant health burden on the child, family and society. This review article seeks to provide a structured framework for managing the apparently blind child presenting in the first year of life, starting from a comprehensive history and examination. Different investigation modalities and the increasingly important role of genetics will also be described, in addition to common causes of severe vision impairment. Crucially, a systematic approach to the blind infant is key to correct diagnoses and timely management...

Transthyretin cardiac amyloidosis (ATTR-CA) has recently been diagnosed more because of advances in diagnostic techniques, such as 99m Tc-labeled pyrophosphate (99m Tc-PYP) scintigraphy. ATTR-CA remains poorly diagnosed by many physicians, except for cardiologists and neurologists, and by patients. In this manuscript, we present a patient who was recommended to undergo a close examination but developed cardiac conduction disturbances and defects due to delays in the examination and treatment initiation. The patient was a 72-year-old Japanese man treated for hypertension at our hospital for approximately 30 years...

OBJECTIVE: To describe our practice of electronic consultations (e-consults) and assess safety and risk factors for subsequent face-to-face consultations. PATIENTS AND METHODS: A retrospective cohort study of all e-consults completed in a community neurology practice between May 5, 2018, and June 31, 2019, was completed. Clinical and demographic variables were compared between the successful and unsuccessful (defined by presence of subsequent face-to-face consultation) cohorts...

BACKGROUND: Managing multiple sclerosis (MS) in people of reproductive age can be challenging as treatment decisions often need to balance efficacy, safety to reproductive health and an understanding of reproductive intentions. There has been limited examination of how family planning (FP) is approached in people with MS (pwMS) in Australia. This study aimed to explore the experiences and perspectives of Australian MS clinical specialists on managing FP in the context of MS. METHODS: We conducted one-on-one semi-structured interviews with nine neurologists and ten MS nurses across Australia who regularly provide care to pwMS of reproductive age...

Pediatric movement disorders (PMD) neurologists care for infants, children, and adolescents with conditions that disrupt typical movement; serving as important subspecialist child neurologists in both academic and private practice settings. In contrast to adult movement disorders neurologists whose "bread and butter" is hypokinetic Parkinson disease, PMD subspecialty practice is often dominated by hyperkinetic movement disorders including tics, dystonia, chorea, tremor, and myoclonus. PMD neurology practice intersects with a variety of subspecialties, including neonatology, developmental pediatrics, rehabilitation medicine, epilepsy, child & adolescent psychiatry, psychology, orthopedics, genetics & metabolism, and neurosurgery...

Posterior reversible encephalopathy syndrome (PRES) is a pathology seen not only in precelampsia with severe symptoms and eclampsia but in a varicty of diseases/ conditions. With the availability of neuroimaging, it is possible to know the exact underlying Central nervous system (CNS) pathology in preeclampsia with severe symptoms and eclampsia and thus therapy can be targeted. Preeclampsia with severe symptoms and eclampsia remains to be an important cause of maternal morbidity and mortality in both the developing and developed world...

BACKGROUND: Stress, individual characteristics of each patient, visceral hypersensitivity and intestinal motility have the key importance in the pathogenesis of irritable bowel syndrome (IBS). In recent years, there has been growing interest in the use of selective serotonin and norepinephrine reuptake inhibitors (SNRIs) in the complex therapy of IBS patients with somatoform disorders. AIM: To examine the effectiveness of the SNRIs antidepressant therapy in the treatment of patients with IBS and diarrhea (IBS-D) with extraintestinal manifestations...

Several authors have reported finding retained primitive reflexes (RPRs) in individuals with autism spectrum disorders (ASD). This case report describes the reduction of RPRs and changes in cognitive function after transcutaneous electrical nerve stimulation (TENS) of muscle. Three individuals were examined in a study at the Institute for Neurology and Neurosurgery in Havana, Cuba. Two child neurologists, not involved in the study, conducted clinical examinations on each participant and diagnosed each with ASD based on DSM-V criteria and the Autism Diagnostic Interview-Revised (an autism evaluation tool)...

BACKGROUND: Complex regional pain syndrome (CRPS) is a multifactorial condition that may affect patients who sustain a fracture in the upper and lower extremities. Prior investigations have formed a foundation for exploring a possible association between psychiatric disorders and the development of CRPS; however, current studies are conflicted regarding the existence and temporality of a relationship between psychiatric disorders and the potential development of CRPS. QUESTIONS/PURPOSES: (1) Are patients with preexisting anxiety and mood disorders (AMDs) at increased risk of receiving a diagnosis of CRPS after upper or lower extremity fractures? (2) Are patients with preexisting AMDs at increased risk of being diagnosed with CRPS after surgical fixation of their fracture? METHODS: A large, retrospective cohort study was conducted using the TriNetX electronic medical record platform, which contains data from more than 100 million patients...

Epilepsy is a common neurological disease characterized by seizures. A person with a seizure onset can lose consciousness which in turn can lead to fatal accidents. Electroencephalogram (EEG) is a recording of the electrical signals from the brain which is used to analyse the epileptic seizures. Physical visual examination of the EEG by trained neurologists is subjective and highly difficult due to the non-linear complex nature of the EEG. This opens a window for automatic detection of epileptic seizures using machine learning methods...

Neurodegeneration refers to progressive dysfunction or loss of selectively vulnerable neurones from brain and spinal cord regions. Despite important advances in fluid and imaging biomarkers, the definitive diagnosis of most neurodegenerative diseases still relies on neuropathological examination. Not only has careful clinicopathological correlation shaped current clinical diagnostic criteria and informed our understanding of the natural history of neurodegenerative diseases, but it has also identified conditions with important public health implications, including variant Creutzfeldt-Jakob disease, iatrogenic amyloid-β and chronic traumatic encephalopathy...

BACKGROUND: Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalopathy caused by autosomal recessive mutations in the SLC13A5 gene. SLC13A5 encodes a transmembrane sodium/citrate cotransporter required for regulating citrate entry into cells. METHODS: Four families with recessively inherited epileptic encephalopathy were sequenced by clinically accredited laboratories using commercially available epilepsy gene panels...

Swallowing is essential for human health, and the cerebellum is crucial for motor movement regulation. Cerebellar strokes may cause dysphagia, but their exact effects remain unexplored in swallowing function. Therefore, the aim of this study was to analyze the precise clinical characteristics of the oral and pharyngeal phases of swallowing after cerebellar stroke and to critically discuss the cerebellum's contribution to swallowing. The study involved 34 participants with cerebellar strokes, gathered through convenience sampling...

Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent during the first decade of life or early during the second decade, but it can also occur in adulthood, and it is more common in females. The main feature is slowly progressive hemiatrophy (thinning or shrinkage) of the facial tissues, typically fat, skin, connective tissues, muscle, and sometimes bone. In some people, atrophy may also affect the trunk and the limbs...

INTRODUCTION: BRCA1-associated ataxia-telangiectasia-mutated activator-1 (BRAT1) is responsible for cell cycle surveillance and mitochondrial function. The implications of adult-onset BRAT1-variant and the resulting phenotypic neurocognitive and imaging features have not been previously described. CASE REPORT: A 66-year-old man with a recent diagnosis of classic Hodgkin lymphoma was referred to neuro-oncology for cognitive and motor decline, and progressive cerebral white matter changes noted on magnetic resonance imaging (MRI)...

Background: It seems that patients with multiple sclerosis (MS) are at a higher risk for coronavirus disease 2019 (COVID-19) implications due to being subjected to immunomodulatory or immunosuppressive treatments. Besides, obesity as a risk factor may lead to more adverse consequences. The relationship between obesity and COVID-19 morbidity and outcomes in Iranian patients with MS still remains unclear. Methods: A cross-sectional study was conducted in Sina Hospital, Tehran, Iran. Patients with MS were asked to complete an online questionnaire in the Google Form format...

Dear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological and dermatological signs and symptoms are common in many clinical entities, especially in the so-called phakomatoses or neurocutaneous syndromes (Von Recklinghausen's disease type 1 and 2, Bourneville-Pringle syndrome, Sturge-Weber syndrome, Von Hippel-Lindau syndrome, Louis-Bar syndrome) (1). The terms "neurodermatitis" and "neurodermatology" also confirm the above...

INTRODUCTION: There is no bedside clinical examination-based prediction score for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in children with neuromuscular diseases (NMDs) presenting with proximal limb-girdle weakness. METHODS: We compared the details of 200 cases of lower motor neuron type of weakness and had some proximal limb-girdle muscle weakness and divided them into 2 groups: with/without a confirmed diagnosis of DMD/BMD. We determined the predictive factors associated with a diagnosis of DMD/BMD using multivariate binary logistic regression...

IMPORTANCE: Neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH) frequently experience seizures, which are associated with adverse outcomes. Efforts to rapidly identify seizures and reduce seizure burden may positively change neurologic and neurodevelopmental outcomes. OBJECTIVE: To describe the onset, treatment, and evolution of seizures in a large cohort of newborns with HIE during TH assisted by a telehealth model and remote neuromonitoring approach...