Despite the abundance of literature on management of acha- lasia, there appears to be a relative paucity of prospective, randomized controlled studies that directly compare different treatment modalities. Until recently, there have only been two really effective methods of treating patients with achalasia: forceful dilation and surgery. Data from uncontrolled retrospective trials have, in general, [...]
Continue reading " Achalasia: Treatment options revisited. COMPARATIVE STUDIES "
Nitrates and calcium channel antagonists have been recommended for treatment of achalasia. The rationale behind the use of these medications is their potential to decrease LES tone by relaxing gastrointestinal smooth muscle. However, the limitations in the use of these drugs are several: they are short acting; they can have significant side effects such as [...]
Continue reading " Achalasia: Treatment options revisited. DRUG THERAPY "
Achalasia was one of the first gastrointestinal motility disorders to be characterized, both clinically and manometrically. Failure of relaxation of the lower esophag- eal sphincter (LES) is the cardinal feature of this disease, thought to result from a relatively selective degeneration of the inhibitory neurons in the surrounding myenteric plexus (Figure 1). This leads to [...]
Parathyroid carcinoma is usually associated with more severe clinical manifestations of PHPT than parathyroid adenomas. The incidence of parathyroid cancer does not favor women but is matched between the sexes, and the age of onset is approximately earlier than in benign disease (mid-40yr instead of the mid-50yr). The principal histological features of parathyroid carcinoma include [...]
To date cyclin D1/parathyroid adenomatosis gene 1 (PRAD1) together with the MEN1 is the only gene with an established role in the development of sporadic (nonfamilial) parathyroid adenomas. The cyclin D1/parathyroid adenomatosis gene 1 oncogene The cyclin D1/PRAD1 gene was identified as a parathyroid oncogene on chromosome 11 q13, clonally activated in a subset of [...]
FIHP is a clinically defined entity, based on the absence of expression of the extra-parathyroid manifestations that characterize other familial HPT syndromes. FIHP is genetically heterogeneous, and can be caused by variant expressions of germline mutations in MEN1, HRPT2, CASR, and probably other genes. One of the puzzling aspects of FIHP is the absence of [...]
Continue reading " Parathyroid tumorigenesis: Familial isolated hyperparathyroidism "
Germline gain-of-function mutations in the RET protooncogene cause MEN 2A. The RET protein is a receptor tyrosine kinase that normally transduces growth and differentiation signals in developing tissues including those derived from the neural crest. This makes the RET gene, which encodes a tyrosine kinase receptor, a candidate gene involved in nonfamilial hyperparathyroidism. There are [...]
Continue reading " Parathyroid tumorigenesis: Multiple endocrine neoplasia type 2 A "
