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Differentiating between cystic lesions of pituitary gland may be challenging. Usual differentials are cystic pituitary adenoma (cPA) and Rathke’s cleft cyst (RCC). Diagnostic certainty of magnetic resonance imaging (MRI) is limited in the absence of usual suggestive features. Furthermore, RCC can co-exist with approximately 2% of pituitary adenomas. Over time, these cystic lesions may remain static, resolve spontaneously, or result in symptomatology relating to mass effect and/or hormonal disruption. In cases of an asymptomatic lesion being found incidentally, little is known about how it may progress, raising question whether to proceed with surgical management or follow-up. We a present case of a spontaneously resolving pituitary cystic lesion with imaging features more suggestive of cPA than RCC, for which watchful waiting proved a successful treatment strategy. The current case serves as a reminder that small cystic lesions can be followed-up with spontaneous resolution and should be offered active treatment only when clinically required.
Pituitary gland; Pituitary cystic lesion; Cystic pituitary adenoma (cPA); Magnetic resonance imaging (MRI).
Peripheral neuropathy is a type of neurological disorder in which patients with complex inherited neurological defects present significant phenotype in the peripheral nervous system. Hereditary amyloidogenic transthyretin (hATTR) neuropathy is typical polyneuropathy caused by single-nucleotide variants in the gene encoding transthyretin (TTR) and leads to transthyretin misfolding and systemic deposition of amyloid. One of the clinical hallmarks of hATTR neuropathy is polyneuropathy of the destruction of the somatic and autonomic peripheral nervous system, leading to loss of autonomy. Progressive amyloid accumulation also causes multi-organ dysfunction and death. There are many therapeutics that have been proposed and developed in these years. These therapies aim to reduce or eliminate hATTR from the plasma, stabilize the hATTR to prevent deposition, and dissolute the amyloid misfolding matrix. Recently, gene therapy strategy is being deployed to treat recessive genetic disorders by eliminating the expression of the mutated genes. Thus, gene-silencing approaches have been used to manage this amyloidosis neuropathy in the broad stages and produce some degree of improvement of this disease. Food and Drug Administration (FDA) approved Inotersen (an antisense oligonucleotide (ASO)) and patisiran (a small interfering ribonucleic acid (siRNA) for the treatment of hATTR polyneuropathy to suppress hATTR expression. Inotersen, a 2’-O-methoxyethylmodified ASO, which acts by reducing the production of transthyretin, and has been demonstrated to improve the quality of life in early hereditary transthyretin amyloidosis polyneuropathy. I here focus on the RNA-targeted therapy with particular emphasis on the molecular mechanisms by which antisense oligonucleotide can be designed to modulate transthyretin RNA function for being a novel therapy for hereditary amyloidosis neuropathy.
Peripheral neuropathy; Amyloidosis; Antisense oligonucleotide (ASO).
There is a need for an understanding of the genomic reality that realizes a connector between the genotype and the phenotype by addressing HOW the genotype actually manifests as the phenotype, as a function of the locus or the allele, mutated, variant or wildtype. That understanding is encompassed by the notion of the PRAXITYPE, which assembles and presents the available answers to the HOW!
A patient-centered approach is reasonable in candidates for carotid revascularization. The patient and their physician should discuss the available treatment options, including revascularization (either carotid artery stenting (CAS) or carotid endarterectomy (CEA)) with their physician. There remains uncertainty regarding the value proposition for revascularization (either CEA or CAS) in asymptomatic patients as a strategy to prevent stroke. Investigation continues into characterizing high-risk carotid plaque subsets, but until that data is available, physicians and patients should continue to strive to achieve the best outcomes with the information that is currently available. The other consideration in asymptomatic patients is that there is a cumulative benefit to revascularization that is dependent on life expectancy. However, the magnitude of the benefit of revascularization, over the longer term in the setting of multifactorial medical therapy, including statins, is not known.
Carotid endarterectomy; Carotid stent; Angioplasty; Embolic protection devices.