Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe non-cutaneous anomalies. Review of long-term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life-long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin-C (Sm-C, IGF-I), epidermal, fibroblast, platelet-derived GFs, and transforming GF-beta is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neurofibromatosis type 1 (NF-1). Compared to controls their "normal" skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two-fold or greater increase of Sm-C levels compared to the levels in the adjacent skin. Thus, NF-1 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF-1. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man.
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PMID:Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype. 162 54

The effect of pulsatile versus continuous intravenous administration of exogenous, pituitary-derived chicken growth hormone (cGH) on growth performance and endocrine/metabolite status of broiler-strain pullets was determined. In a first study, 8-week-old pullets, surgically prepared with intravenous catheters and maintained via a fluid swivel/spring tether/harness system, were administered cGH or vehicle (control) over a 10-min period every 90 min (i.e., 90-min pulse pattern) for 21 consecutive days. Feed intake, body weight gain, and carcass yield and composition were determined in conjunction with plasma concentrations of several hormones and metabolites. In a second study, 8-week-old pullets were intravenously administered cGH or vehicle continuously for 21 consecutive days under the same conditions as for Study I. Pulsatile cGH administration improved feed efficiency (P less than 0.02), increased longitudinal bone growth (P less than 0.02) and mass (P less than 0.01), and reduced abdominal fat pad size (P less than 0.05) and total carcass lipid (P less than 0.09) over the 21-day treatment period in comparison to vehicle infusion. Pulsatile cGH administration also resulted in hepatomegaly, a marked elevation in plasma IGF-I (P less than 0.003) and T3 (P less than 0.005) concentrations, and a reduction in plasma T4 levels (P less than 0.04). In contrast to the above responses to pulsatile cGH, continuous intravenous cGH administration significantly impaired feed efficiency (P less than 0.01) and had no significant effect on abdominal fat pad or liver size or on total carcass lipid, but did result in widening of the epiphyseal growth plate (P less than 0.06) and increased bone mass (P less than 0.01) in comparison to vehicle infused controls. These studies demonstrate that in the broiler chicken, for which endogenous plasma GH concentrations are pulsatile at early ages in conjunction with rapid growth, the pattern of exogenous GH administration is clearly a factor influencing the nature of response to the hormone.
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PMID:Effect of pattern of administration on the response to exogenous pituitary-derived chicken growth hormone by broiler-strain pullets. 320 75

Glycogen storage disease Ib is a rare, inherited metabolic disorder caused by glucose-6-phosphatase translocase deficiency. Its main symptoms are hypoglycemia, hyperlipidemia, neutropenia, hepatomegaly, liver adenomas and short stature. The exact mechanism of short stature in this disease is unclear, the most feasible possibility is that it is caused by impairment of growth-hormone and insulin-like growth factor I axis. Here we report the case of a patient who showed typical symptoms of glycogen storage disease Ib since his infancy, his height being under 1 percentile since then. Later-developed hypothyroidism and hypogonadism have also contributed to his short stature. Hypothyroidism was treated but sexual steroid substitution was not started because of an increased risk of hepatic adenomas. Because he developed hepatic adenoma at the age of 23, he had to undergo orthotopic liver transplantation. At the time of the transplantation his height was 128cm. The transplantation was followed by rapid height growth; our patient's height reached 160.3cm 62months after transplantation. We observed that while his IGF-I level increased, his GH level remained unchanged. During the post-transplantation period we ensured adequate calcium and vitamin D supplementation, leaving hormonal substitution unchanged. According to our knowledge, this is the first report of a rapid height growth as big as 32cm, of an individual over the age of 20, not related to endocrine treatment but liver transplantation.
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PMID:Rapid height growth after liver transplantation in adulthood. 2704 Oct 87