https://www.fertstert.org/article/S0015-0282(08)01392-7/pdf

The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report

Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia). This biochemical hallmark reflects loss-of-function mutations within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphohydrolase that is richly expressed in the skeleton, liver, kidney and developing teeth. In hypophosphatasia, extracellular accumulation of TNSALP natural substrates includes inorganic pyrophosphate, an inhibitor of mineralization, which explains the dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopathies. Severely affected infants sometimes also have hypercalcaemia and hyperphosphataemia due to the blocked entry of minerals into the skeleton, and pyridoxine-dependent seizures from insufficient extracellular hydrolysis of pyridoxal 5'-phosphate, the major circulating form of vitamin B6, required for neurotransmitter synthesis. Autosomal recessive or dominant inheritance from ~300 predominantly missense ALPL (also known as TNSALP) mutations largely accounts for the remarkably broad-ranging expressivity of hypophosphatasia. High serum concentrations of pyridoxal 5'-phosphate represent a sensitive and specific biochemical marker for hypophosphatasia. Also, phosphoethanolamine levels are usually elevated in serum and urine, though less reliably for diagnosis. TNSALP mutation detection is important for recurrence risk assessment and prenatal diagnosis. Diagnosing paediatric hypophosphatasia is aided by pathognomic radiographic changes when the skeletal disease is severe. Hypophosphatasia was the last type of rickets or osteomalacia to await a medical treatment. Now, significant successes for severely affected paediatric patients are recognized using asfotase alfa, a bone-targeted recombinant TNSALP.

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Background: Although clinically evident metastases of nonthyroid malignancies (NTMs) to the thyroid gland are uncommon, it is important to suspect them in patients who present with a new thyroid mass and a history, however far back, of prior malignancy. In fact, metastases from NTMs to the thyroid gland have been reported in 1.4%–3% of all patients who have surgery for suspected cancer in the thyroid gland. Here we review the literature over the last decade regarding this topic. Summary: Based on recent literature, the most common NTMs that metastasize to the thyroid gland are renal cell (48.1%), colorectal (10.4%), lung (8.3%), and breast carcinoma (7.8%), and sarcoma (4.0%). Metastases of NTMs to the thyroid are more common in women than men (female to male ratio=1.4 to 1) and in nodular thyroid glands (44.2%). The mean and median intervals between diagnosing NTMs and their metastases to thyroid gland are 69.9 and 53 months, respectively. In 20% of cases the diagnosis of the NTM and its metasta...

Metastases to the Thyroid: A Review of the Literature from the Last Decade

The syndromes of reduced sensitivity to thyroid hormone.

Aging is a multifactorial process that involves changes at the cellular, tissue, organ and the whole body levels resulting in decreased functioning, development of diseases, and ultimately death. O...

Oxidative stress and aging: is methylglyoxal the hidden enemy?

Proinflammatory and proapoptotic effects of methylglyoxal on neutrophils from patients with type 2 diabetes mellitus.

Low Serum Alkaline Phosphatase Activity and Pathologic Fracture: Case Report and Brief Review of Hypophosphatasia Diagnosed in Adulthood

Reversible hypercalcemia and hyperparathyroidism associated with lithium therapy: case report and review of literature

Thyrotoxicosis is an uncommon cause of low-output congestive heart failure. The case of a 41-year-old male who presented with severe symptomatic congestive heart failure, and was subsequently diagnosed with dilated cardiomyopathy secondary to hyperthyroidism, is presented. The cause of his hyperthyroidism was Graves disease. Despite an initial left ventricular systolic ejection fraction of 20% and evidence of global hypokinesis on echocardiography, treatment with antithyroid agents led to rapid improvement in his clinical status and normalization of his ejection fraction. The proposed mechanisms underlying the development of systolic dysfunction in thyrotoxicosis are discussed, and the literature on similar cases previously reported is reviewed.

A case of congestive heart failure due to reversible dilated cardiomyopathy caused by hyperthyroidism.

ADRENOMYELONEUROPATHY IS A VARIENT OF ADRENOLEUKODYSTROPHY, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders.

/pdf/adrenomyeloneuropathy-as-a-cause-of-primary-adrenal-3mbh5nuu5v.pdf

Hasnain M. Khandwala

Papers

Proinflammatory and proapoptotic effects of methylglyoxal on neutrophils from patients with type 2 diabetes mellitus.

Low Serum Alkaline Phosphatase Activity and Pathologic Fracture: Case Report and Brief Review of Hypophosphatasia Diagnosed in Adulthood

Reversible hypercalcemia and hyperparathyroidism associated with lithium therapy: case report and review of literature

A case of congestive heart failure due to reversible dilated cardiomyopathy caused by hyperthyroidism.

Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis