Brinkgarner4879

PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in PURA gene and characterized by a multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy and movement disorders.

We report a 9-year-old girl with hypotonia and feeding difficulties with failure to thrive since the neonatal period. At the age of 3 years motor and intellectual delay were evident, she had a wide-based gait, no speech and an exaggerated acoustic startle response. She developed hand-mouthing stereotypies and epilepsy at 6 years old. The 24 hours continuous electroencephalogram monitoring revealed global slow activity and frequent epileptiform activity in left temporal and centrotemporal areas. The brain MRI revealed delayed myelination. At 6 years old the clinical exome sequencing identified a heterozygous pathogenic variant in the PURA gene, c.153delA p.(Leu54CysfsTer24).

PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.

PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.Mindfulness is a term that has become part of our society's vocabulary and its practice has become firmly established in educational, therapeutic and clinical contexts and as a tool for fostering well-being and personal growth. In this article we review the most relevant research conducted on mindfulness in cognitive neuroscience, classifying it in three broad areas a) differential changes in default network activity due to the practice of mindfulness; b) functional or structural changes in the attentional network, and c) functional or structural changes in the frontal limbic network and the amygdala, related to emotion regulation. There is enough evidence in the literature to affirm the effect of mindfulness practice on the brain, but we still need to produce better experimental designs that allow us to find the mechanisms of action underlying specific practices.

Patients who have suffered a chronic cerebrovascular accident or a stroke need long-term physiotherapy treatments. However, they have had to be stopped due to the COVID-19 pandemic. To be able to offer these patients an online functional assessment, a proposal was put forward to design an adaptation of the Spanish version of the Fugl Meyer assessment scale and to test its viability.

The adapted online scale, based on the Fugl Meyer assessment scale. The motor function, balance and pain domains were kept, and items requiring assistance for the patient were removed. This scale was administered to 13 patients with a chronic cerebrovascular accident from the Salamanca Acquired Brain Injury Association (Asociacion de Dano Cerebral Adquirido) via different web platforms. The procedure followed was the same as for the original scale and lasted from 30 to 45 minutes.

All the patients completed the Fugl Meyer assessment scale, online version. The greatest difficulty was encountered in the assessment of the lower limbs. Patients and physiotherapists highlighted how easy it was to complete the items in the scale. On comparing the versions, statistically significant positive correlations were found with the original version (p < 0.001) and the correlation coefficients indicated a strong association. The difference between the equivalent sections of the scale in each instrument was no greater than 5%, except for balance.

The Fugl Meyer assessment scale, online version, is a feasible, useful and easy to apply scale that allows assessment of the functional status of stroke patients and can help meet the current needs during the COVID-19 pandemic.

The Fugl Meyer assessment scale, online version, is a feasible, useful and easy to apply scale that allows assessment of the functional status of stroke patients and can help meet the current needs during the COVID-19 pandemic.

Smoking is one of the causes leading to the development of disease and mortality worldwide. One of the focuses of interest in this area is the impact of smoking on neuropsychological health. However, few studies provide instruments to assess executive functioning in smokers. The purpose of this study was to examine the viability of the internal structure of a neuropsychological battery for the assessment of executive function in smokers.

A total of 171 smokers (Mage= 47.44, SDage= 8.48) were assessed. Executive functions were assessed at baseline with measures of inhibition (go/no go task and five digit test), updating (visual search and attention test and letter-number sequencing) and shifting (delay discounting task and Iowa gambling task).

The exploratory factor analysis obtained a three-component solution of 59.6%. https://www.selleckchem.com/products/tvb-3166.html Establishing a first factor composed of visual search and attention test and letter-number sequencing, a second factor composed of delay discounting task and go/no go task and a third factor with Iowa gambling task and five digit test.

The analysis of the internal structure reflected three factors which are consistent with the structure proposed by Miyake (2000).

The analysis of the internal structure reflected three factors which are consistent with the structure proposed by Miyake (2000).

Continuous intestinal infusion of levodopa/carbidopa is a second-line treatment indicated in advanced stages of Parkinson's disease (PD). For its implantation, a percutaneous endoscopic gastrostomy must be performed.

The main objective has been to describe the frequency and characteristics of the side effects associated with this treatment. As a secondary objective, we have analyzed the epidemiological and clinical characteristics of the PD patients who have received this treatment in our hospital.

Descriptive, single-center, retrospective study for a consecutive sample of PD patients treated with Continuous intestinal infusion of Levodopa/Carbidopa from the beginning of 2006 to the end of August 2021.

81 treatment planifications have been analyzed. Treatment success (duration greater than 12 months) was achieved in 78.1% (n = 50) of the patients in whom this follow-up period was available. The median duration of treatment was 35 months. 58.6% of the patients presented some type of complication. A total of 43 minor complications and 16 serious adverse events were reported.

The constitution of an experienced multidisciplinary team is essential to guarantee the adequate management and follow-up of these patients.

The constitution of an experienced multidisciplinary team is essential to guarantee the adequate management and follow-up of these patients.

Cannabis sativa has been cultivated for human use for about 5,000 years, and has likewise been used in the treatment of epilepsy for thousands of years.

Cannabidiol (CBD), which was isolated from cannabis sativa in 1940, has an anti-seizure effect and no psychoactive activity. Its effectiveness in reducing various types of seizures has been proven in animal seizure and epilepsy models. Recent randomised, placebo-controlled trials have confirmed its effectiveness in patients with drug-resistant epilepsy.

The aim of this position paper was to present the specific mechanism of CBD's anti-seizure action and current indications for CBD's use in epilepsy. The only cannabis-derived drug that has successfully passed clinical trials and has obtained United States Food and Drug Administration and European Medicines Agency approval for epilepsy is Epidiolex®. This paper presents the outcomes of the completed clinical trials with the use of this drug.

CBD may be an effective drug in drug-resistant epilepsy, particularly in Dravet Syndrome, Lennox- Gastaut Syndrome and seizures associated with tuberous sclerosis complex. Additional randomised, placebo-controlled studies with CBD are needed.

CBD may be an effective drug in drug-resistant epilepsy, particularly in Dravet Syndrome, Lennox- Gastaut Syndrome and seizures associated with tuberous sclerosis complex. Additional randomised, placebo-controlled studies with CBD are needed.Angiofibroma of soft tissue (AFST) is a new soft tissue tumor entity described in the 2020 World Health Organization Classification of Soft Tissue and Bone Tumors. It most often arises in the lower extremities of middle-aged adults and pursues a benign clinical course with a low rate of non-destructive local recurrence. Histologically, the lesion consists of uniform bland spindle cells in a fibromyxoid stroma with a prominent vascular network. The vascular component forms a complex arrangement of small, thin-walled branching blood vessels. By immunohistochemistry, AFST is variably positive for epithelial membrane antigen, desmin, smooth muscle actin, CD34, CD68, CD163 and estrogen receptor. The exact etiology of AFST remains unknown, but it appears genetically distinct, with a balanced t(5;8)(p15;q13) translocation resulting in a fusion of aryl hydrocarbon receptor repressor (AHRR) and nuclear receptor coactivator 2 (NCOA2). Knowledge of this recently described entity is important because it can mimic a variety of intermediate and malignant soft tissue tumors, including solitary fibrous tumor, low-grade fibromyxoid sarcoma, myxoid liposarcoma and low-grade myxofibrosarcoma. We review AFST, with an emphasis on the diagnostic spectrum, recent molecular genetic features and the differential diagnosis.The sonographic findings in alveolar echinococcosis (AE) and cystic echinococcosis (CE) are complex and can pose significant differential diagnostic problems. They may present like complicated cysts or malignant tumors in the liver. We will discuss the diagnostic difficulties and pitfalls of these two diseases based on case histories.In addition to aqueous humour and blood, cerebrospinal fluid also plays an important part in the pathophysiology of primary open-angle glaucoma (POAG) and, in particular, normal-tension glaucoma (NTG). Apart from the important role of CSF pressure in papillary congestion, the composition of the CSF and its flow rate are relevant. CSF is in contact with the brain, the spinal canal and the optic nerve. In neurodegenerative disease, one potential pathophysiological factor, apart from an altered composition of the CSF, is a decrease in flow rate. Changes in CSF composition and flow rate have also been described in the perioptic subarachnoid space of the optic nerve in patients with normal tension glaucoma. Such findings indicate that primary open angle glaucoma and normal tension glaucoma especially, might be due to a neurodegenerative process.