Search results for "encephalopathy"

Benign and severe early-life seizures: a round in the first year of life

2018

Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

Validation of the simplified Animal Naming Test as primary screening tool for the diagnosis of covert hepatic encephalopathy

2019

Diagnosis of covert hepatic encephalopathy (CHE) is time consuming in clinical practice. Recently, a new diagnostic tool - the simplified Animal Naming Test (S-ANT1) - was presented with promising results in an Italian cohort. The aim of the present study was to validate S-ANT1 in a cohort of cirrhotic patients from a German tertiary referral centre.143 cirrhotic patients and 37 healthy controls were enrolled. Hepatic encephalopathy (HE) grade 1 (HE1) was clinically diagnosed according to the West-Haven Criteria. Critical flicker frequency and Psychometric Hepatic Encephalopathy Score were used to detect minimal HE (MHE). All participants were additionally examined by S-ANT1.58 (40.6%) pati…

The swinholide biosynthesis gene cluster from a terrestrial cyanobacterium, Nostoc sp. strain UHCC 0450

2017

ABSTRACT Swinholides are 42-carbon ring polyketides with a 2-fold axis of symmetry. They are potent cytotoxins that disrupt the actin cytoskeleton. Swinholides were discovered from the marine sponge Theonella sp. and were long suspected to be produced by symbiotic bacteria. Misakinolide, a structural variant of swinholide, was recently demonstrated to be the product of a symbiotic heterotrophic proteobacterium. Here, we report the production of swinholide A by an axenic strain of the terrestrial cyanobacterium Nostoc sp. strain UHCC 0450. We located the 85-kb trans -AT polyketide synthase (PKS) swinholide biosynthesis gene cluster from a draft genome of Nostoc sp. UHCC 0450. The swinholide …

Value of the critical flicker frequency in patients with minimal hepatic encephalopathy

2007

Minimal hepatic encephalopathy (MHE) is mainly diagnosed using psychometric tests such as the psychometric hepatic encephalopathy score (PHES). Despite the clinical and social relevance of MHE, psychometric testing is not widespread in routine clinical care. We assessed the usefulness of the critical flicker frequency (CFF), for the diagnosis of MHE and for the prediction of the development of overt episodes of HE. The normal range of PHES in the Spanish population was evaluated in a control group. Subsequently, 114 patients with cirrhosis and 103 healthy controls underwent both PHES and CFF tests. A diagnosis of MHE was made when the PHES was lower than −4 points. Patients were followed-up…

Angiotensin converting enzyme gene polimorfism and central obesity: relationship with blood pressure and left ventricular structure and function

2001

Positive Effect of Steroids in Posterior Reversible Encephalopathy Syndrome

2019

We present a case of posterior reversible encephalopathy syndrome with severe clinical manifestation. Apart from initial aphasia, hemiparesis, and a generalized seizure, the patient had a prolonged loss of consciousness. Although blood pressure was normalized, the clinical status deteriorated continuously. After adding steroids to the therapy, the patient recovered rapidly, suggesting that this could have been a useful therapeutic approach. Even the vasogenic edema in the cerebral magnetic resonance imaging disappeared shortly within 6 days.

CT and MR Imaging of Non-neoplastic Intracranial Masses

1989

Many intracranial mass lesions of non-neoplastic origin present CT and MR features similar or identical to those of true neoplasms. In many cases a definitive diagnosis cannot be made from imaging findings alone, and misinterpretation is possible even when the history and clinical findings are considered. Yet an accurate preoperative diagnosis is an essential prerequisite for selecting candidates for a neurosurgical operation and planning the procedure. In some cases the full range of neuroradiologic techniques may have to be applied and evaluated in the context of clinical findings before the physician can accurately classify the disease and draw appropriate therapeutic conclusions.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

2014

The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…

Review: Neuroradiological aspects of infantile spasms

1987

With the modern noninvasive brain imaging methods, cerebral lesions of different types and degrees can frequently be determined in infants with West syndrome. In CT examinations preceding the spasms and the ACTH therapy, "idiopathic" forms of infantile spasms were rare. The CT findings consistent with perinatal or postnatal encephalopathy were more frequent than those found with embryonic or fetal lesions alone. The fact that pathognomonic changes cannot be determined, may reflect the low specificity of CT diagnosis in infants with chronic CNS diseases. A slight and mostly transient enlargement of CSF spaces during ACTH therapy is a probable side-effect of the medication. In infants with pe…