- Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. [Journal Article]
- PlosPLoS One 2015; 10(10):e0139343
- CONCLUSIONS: We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome. Functional analysis demonstrates loss-of-function of the MCT8 transporter. Furthermore, our results indicate that the function of the S290F mutant is dependent on cell context. Comparison of the S290F and S290A mutants indicates that it is not the loss of Ser but its substitution with Phe, which leads to S290F dysfunction.
- Bioidentical thyroid replacement therapy in practice: Delivering a physiologic T4:T3 ratio for improved patient outcomes with the Listecki-Snyder protocol. [Journal Article]
- IJInt J Pharm Compd 2012 Sep-Oct; 16(5):376-80
- Effective thyroid replacement therapy may be elusive to some patients, and compounding pharmacists have an opportunity to deliver more effective therapy. Goodman & Gilman's The Pharmacological Basis ...
Effective thyroid replacement therapy may be elusive to some patients, and compounding pharmacists have an opportunity to deliver more effective therapy. Goodman & Gilman's The Pharmacological Basis of Therapeutics 12th edition states that the body usually secretes T4:T3 in an 11:1 ratio but cautions against pursuing combined thyroid replacement due to the short halflife of T3 that necessitates multiple daily dosing; no commercial availability and lack of benefit were shown in trials. Commercial combinations of T4/T3 such as Armour Thyroid and Nature-Throid have a 4.22:1 T4:T3 ratio. Applying the same concept as bioidentical hormone replacement therapy, compounding pharmacists can deliver an 11:1 ratio using a commercial T4 product and taking into account oral bioavailability of each entity. The short half-life of T3 can be remedied by taking the patient's daily T3 dose and dividing it into two slow-release capsules to be dosed every 12 hours.
- [Cancer incidence in the military: an update]. [Journal Article]
- EPEpidemiol Prev 2011 Sep-Dec; 35(5-6):339-45
- An abnormally elevated rate of Hodgkin's lymphoma was reported in 2001 among Italian soldiers in Bosnia and Kosovo since 1995: a surveillance system was therefore set up for the military community. P...
An abnormally elevated rate of Hodgkin's lymphoma was reported in 2001 among Italian soldiers in Bosnia and Kosovo since 1995: a surveillance system was therefore set up for the military community. Preliminary results for a longer period (1996-2007) have shown incidence rates lower than expected for all malignancies. No significant difference was registered between observed and expected cases of Hodkin's lymphoma: the excess of reported cases for this malignancy in 2001-2002 was probably due to a peak occurred in 2000 among the whole military; it is therefore unrelated to deployment in the Balkans, and probably represents a chance event. Moreover, a significant excess of thyroid cancer was reported among the whole military.The estimated number of incident cases, including those missed by the surveillance system, was not significantly higher than expected for all cancers; conversely, the estimated incidence rate of thyroid cancer was significantly increased; this excess, however, is probably due to a selection bias.These data concerning cancer surveillance in the Italian military are consistent with lacking evidence of an increased cancer incidence among troops of other countries deployed in the areas of Iraq, Bosnia, and Kosovo, where armour penetrating depleted uranium shells have been used. However, a comprehensive assessment of cancer morbidity in the military requires a revision of the privacy regulations, in order to link individual records of military personnel and data bases of the National Health Service.
- Sub-laboratory hypothyroidism and the empirical use of Armour thyroid. [Case Reports]
- AMAltern Med Rev 2004; 9(2):157-79
- Evidence is presented that many people have hypothyroidism undetected by conventional laboratory thyroid-function tests, and cases are reported to support the empirical use of Armour thyroid. Clinica...
Evidence is presented that many people have hypothyroidism undetected by conventional laboratory thyroid-function tests, and cases are reported to support the empirical use of Armour thyroid. Clinical evaluation can identify individuals with sub-laboratory hypothyroidism who are likely to benefit from thyroid-replacement therapy. In a significant proportion of cases, treatment with thyroid hormone has resulted in marked improvement in chronic symptoms that had failed to respond to a wide array of conventional and alternative treatments. In some cases, treatment with desiccated thyroid has produced better clinical results than levothyroxine. Research supporting the existence of sub-laboratory hypothyroidism is reviewed, and the author's clinical approach to the diagnosis and treatment of this condition is described.
- The pituitary gland: embryology, physiology, and pathophysiology. [Review]
- NNNeonatal Netw 2000; 19(2):9-17
- The pituitary gland, the "master gland" of the body, is composed of endocrine cells, which secrete hormones essential for homeostasis. The gland consists of the adenohypophysis (anterior pituitary) a...
The pituitary gland, the "master gland" of the body, is composed of endocrine cells, which secrete hormones essential for homeostasis. The gland consists of the adenohypophysis (anterior pituitary) and the neurohypophysis (posterior pituitary), two unique structures that differ anatomically and functionally. The neurohypophysis is innervated by nerve cells in the hypothalamus and forms the connection between it and the pituitary gland. The hypothalamus stimulates release and inhibition of pituitary hormones. The neurohypophysis secretes oxytocin and antidiuretic hormone. The adenohypophysis is composed of three structures: the pars distalis, the pars intermedia, and the pars tuberalis. The anterior pituitary (pars distalis) is responsible for the release of hormones that include growth hormone, prolactin, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and melanocyte-stimulating hormone. Disorders of the pituitary are predominately those of insufficient hormone release and may have profound effects on the neonate. The potential causes of and clinical symptomatology that may accompany pituitary hormone insufficiency in the neonatal period are explored.
- Role of maternal biochemistry in fetal brain development: effect of maternal thyroidectomy on behaviour and biogenic amine metabolism in rat progeny. [Journal Article]
- IJInt J Neuropsychopharmacol 2000; 3(2):89-97
- Few studies have addressed the role of biochemicals of maternal origin on fetal neurodevelopment and behavioural outcome. Thyroid deficiency in the thyroidectomized pregnant rat provides an excellent...
Few studies have addressed the role of biochemicals of maternal origin on fetal neurodevelopment and behavioural outcome. Thyroid deficiency in the thyroidectomized pregnant rat provides an excellent model to study fetal effects of maternal chemistry, as this condition is known to be associated with deficits in motor and cognitive behaviour in human offspring. Based on evidence that thyroid hormone of maternal origin may be an important determinant in regulating these behaviours, we assessed neurobehaviours and regional brain biogenic amine levels in offspring of rats thyroidectomized (Tx) prior to conception. Cross-fostering techniques were used to isolate fetal effects of maternal thyroid deficiency from possible neonatal effects during nursing by thyroid-deficient dams. The progeny of Tx dams showed significant deficits in maze learning, were less cautious in emotionality testing, and were more active in open-field exploration. Tx females appeared to be more vulnerable to the effects on learning. Learning in Tx males was only slightly impaired. Serotonin and dopamine metabolism was also affected in a brain region-specific manner in Tx progeny. Levels of 5-HIAA were reduced in the olfactory tubercle and cortex. HVA levels were lower in olfactory tubercle, but were elevated in the hippocampus. As these neurotransmitters play a functional role in activity, mood and learning, the findings may be pertinent to the observed behavioural impairments. The results are consistent with the hypothesis that an adequate in utero thyroid hormone environment may be essential for early fetal neurodevelopment even if the fetus is euthyroid.
- Retrosternal goitre. [Letter]
- BJBr J Surg 2000; 87(4):519
- Pharmacology of bovine and human thyrotropin: an historical perspective. [Review]
- TThyroid 1999; 9(5):451-3
- Before the induction of a brief period of hypothyroidism became the standard method for inducing 131I uptake in thyroid cancer diagnosis and therapy, several other methods were explored and used. At ...
Before the induction of a brief period of hypothyroidism became the standard method for inducing 131I uptake in thyroid cancer diagnosis and therapy, several other methods were explored and used. At the dawn of this new era of recombinant human thyrotropin (TSH) it is of interest to reflect briefly on some of this work. Partially purified bovine TSH (bTSH) was supplied for many years by the Armour Company as Thytropar for intramuscular injection and was first used in thyroid cancer 50 years ago at the Montefiore Hospital and at the Memorial Sloan Kettering Cancer Center in New York City. Most of the patients were already hypothyroid and bTSH induced further 131I uptake in only a few. Experience over the next 30 years revealed frequent allergic reactions, occasionally serious ones, and in 1961 it was shown that prolonged use could result in resistance to both bTSH and human TSH. bTSH was, therefore, reserved for thyroid cancer patients unable to increase endogenous TSH when hypothyroid. bTSH also was used widely as a test to distinguish between hypothyroidism caused by thyroid or pituitary failure until it was replaced by thyrotropin-releasing hormone (TRH). In a few studies, TRH was also tested as an adjuvant to increase endogenous TSH and thus help to stimulate function in thyroid cancer, but this attracted little interest. Prolonged hypothyroidism, enhanced by antithyroid drugs, was used early on, but this very effective stimulant of thyroid cancer function was, for multiple reasons, discarded. Beginning interest 15 to 25 years ago in obtaining TSH from human pituitary glands, a byproduct of growth hormone production, was interrupted when this product was found to risk development of Creutzfeld-Jakob disease. Recombinant human TSH, a safe and effective substitute, is now ready for widespread use and development in thyroid cancer management.
- Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. [Journal Article]
- JMJ Med Genet 1997; 34(2):126-9
- Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perc...
Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4. To define the critical linkage interval for Pendred syndrome we have studied five kindreds, each with members affected by Pendred syndrome. All families support linkage to the chromosome 7 region, defined by the microsatellite markers D7S501-D7S523. Detailed haplotype analysis refines the Pendred syndrome linkage interval to a region flanked by the marker loci D7S501 and D7S525, separated by a genetic distance estimated to be 2.5 cM. As potential candidate genes have as yet not been mapped to this interval, these data will contribute to a positional cloning approach for the identification of the Pendred syndrome gene.
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- Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. [Journal Article]
- CEClin Endocrinol (Oxf) 1996; 44(4):441-6
- CONCLUSIONS: These data suggest that defects at the thyroid peroxidase locus on chromosome 2 are not the major cause of Pendred's syndrome.