Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C1864663 (HCC)
 2,985 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of leukodystrophies. The authors used MEDLINE, EMBASE, and GOOGLE SCHOLAR to provide an extensive update about epidemiology, classifications, pathology, clinical findings, diagnostic tools, and treatments of leukodystrophies. Comprehensive evaluation of clinical findings, brain magnetic resonance imaging, and genetic studies play the key roles in the early diagnosis of individuals with leukodystrophies. No cure is available for most heritable white matter disorders but symptomatic treatments can significantly decrease the burden of events. New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leukodystrophies and result in higher diagnostic rates, new classifications of leukodystrophies based on genetic information, and replacement of symptomatic managements with more specific targeted therapies.Abbreviations: 4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.
 ...
PMID:An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 3182 48

Interventional radiology plays an important and increasing role in cancer treatment. Follow-up is important to be able to assess treatment success and detect locoregional and distant recurrence and recommendations for follow-up are needed. At ECIO 2018, a joint ECIO-ESOI session was organized to establish follow-up recommendations for oncologic intervention in liver, renal, and lung cancer. Treatments included thermal ablation, TACE, and TARE. In total five topics were evaluated: ablation in colorectal liver metastases (CRLM), TARE in CRLM, TACE and TARE in HCC, ablation in renal cancer, and ablation in lung cancer. Evaluated modalities were FDG-PET-CT, CT, MRI, and (contrast-enhanced) ultrasound. Prior to the session, five experts were selected and performed a systematic review and presented statements, which were voted on in a telephone conference prior to the meeting by all panelists. These statements were presented and discussed at the ECIO-ESOI session at ECIO 2018. This paper presents the recommendations that followed from these initiatives. Based on expert opinions and the available evidence, follow-up schedules were proposed for liver cancer, renal cancer, and lung cancer. FDG-PET-CT, CT, and MRI are the recommended modalities, but one should beware of false-positive signs of residual tumor or recurrence due to inflammation early after the intervention. There is a need for prospective preferably multicenter studies to validate new techniques and new response criteria. This paper presents recommendations that can be used in clinical practice to perform the follow-up of patients with liver, lung, and renal cancer who were treated with interventional locoregional therapies.
 ...
PMID:Follow-up after radiological intervention in oncology: ECIO-ESOI evidence and consensus-based recommendations for clinical practice. 3267 24

We would like to highlight that the non-invasive criteria for HCC diagnosis, defined by the presence of hyperenhancement in the arterial phase (wash-in) followed by hypoenhancement (wash-out) in venous phases on MRI and/or CT, have been validated by multiple cohort studies and meta-analysis. These criteria are only applicable when the pre-test probability is high (lesions > 1 cm in patients diagnosed of liver cirrhosis or chronic hepatitis B). In addition, for an adequate use of these criteria, other processes such as active (or past) neoplasms must be ruled out. In this scenario, non-invasive criteria have repeatedly demonstrated a diagnostic specificity and positive predictive value close to 100 %. Moreover, we would like to remark the transversality in the consensus of the non-invasive diagnosis of HCC, since not only the hepatology societies recommend its use, but also the oncology and radiology ones.
 ...
PMID:Biopsy for hepatocellular carcinoma: only occasionally. 3268 28

A 50-year-old female who had a liver tumor was referred to our hospital for further examination. Abdominal CT and MRI revealed a 2 cm tumor in liver segment 2 that was suspected to be HCC. On the basis of the CT and MRI findings, the patient underwent needle biopsy. The pathological findings suggested the possibility of perivascular epithelioid cell tumor (PEComa). Accordingly, we performed laparoscopic liver segmentectomy. As a hepatic PEComa is relatively rare, the current case serves as an important reminder to consider PEComa in the differential diagnosis of liver tumors.
 ...
PMID:[Laparoscopic Hepatic Resection for a Hepatic Perivascular Epithelioid Cell Tumor-A Case Report]. 3282 61

The Liver Imaging and Reporting Data System (LI-RADS) is a comprehensive system for standardizing the terminology, interpretation, reporting, and data collection of liver imaging. Over the past 10 years, LI-RADS has undergone a substantial expansion in scope, building upon and refining its initial CT/MRI algorithm for HCC diagnosis and developing three new algorithms: Ultrasound (US) LI-RADS for HCC screening and surveillance, Contrast Enhanced US (CEUS) LI-RADS for HCC diagnosis, and LI-RADS CT/MRI Treatment Response. As of 2018, LI-RADS and the American Association for the Study of Liver Diseases (AASLD) share unified LR-5 criteria for the imaging-based diagnosis of HCC, and LI-RADS diagnostic criteria and management recommendations were integrated into the AALSD clinical practice guidance for HCC diagnosis, staging, and management. LI-RADS is updated in response to new knowledge, technology, and user feedback every 3-5 years. This article details the origins and growth of LI-RADS, reviews its current state, and articulates its short- and long-term objectives.
 ...
PMID:LI-RADS Past, Present, and Future, From the AJR Special Series on Radiology Reporting and Data Systems. 3305 20


<< Previous 1 2 3 4 5