Growth hormone deficiency in adults with thalassemia: an overview and the I-CET recommendations.

This review paper provides a summary of the current state of knowledge regarding GHD provides recommendations for the diagnosis and treatment of GHD in adult patients with thalassaemia major (TM). The reported prevalence of adult GHD and /or IGF-I deficiency in TM patients varies from 8% to 44 % in different centers. Because GH treatment requires analysis of many factors, including the effect of treatment on cardiac functions, metabolic parameters and psychosocial functioning, along with safety, ethical considerations, financial cost and other burdens of therapy, stringent diagnostic criteria are needed. The authors report the diagnostic recommendations of the International Study Group of Endocrine Complications in Thalassemia (I-CET) for adult TM patients.The pros and cons of GH treatment must be discussed with each patient, after which GH doses should be individualized and titrated to maximum efficacy with minimal side effects. Prospective studies to monitor potential benefits versus possible side-effects will enable endocrinologists to define recommendations on dosage and the long term effects, particularly on cardiovascular and bone status of GH therapy in adult TM patients.

Bilateral renal artery dissection following extreme exertion.

Dissection of a renal artery is rare and is usually associated with underlying arterial disease. Bilateral renal artery dissection following extreme exertion is exceptionally uncommon, and thus presents a diagnostic challenge. We report a case of a middle-aged, otherwise healthy man who presented to the hospital with left flank pain after a long bicycling trip. Initial laboratory tests and urinalysis were normal. Careful review of a contrast-enhanced computed tomography angiogram (CTA) with 3D reconstruction revealed bilateral segmental renal artery dissection and thrombosis with corresponding renal infarcts. He was treated medically and rapidly recovered.

Radioenzymatic assay for reductive catalysis of N(5)N(10)-methylenetetrahydrofolate by methylenetetrahydrofolate reductase.

Methylenetetrahydrofolate reductase catalyzes the reduction of N(5), N(10)-methylenetetrahydrofolate to N(5)-methyltetrahydrofolate. Because this substrate is unstable and dissociates spontaneously into formaldehyde and tetrahydrofolate, the customary method to assay the catalytic activity of this enzyme has been to measure the oxidation of [14C]N(5)-methyltetrahydrofolate to N(5), N(10)-methylenetetrahydrofolate and quantify the [14C]formaldehyde that dissociates from this product. This report describes a very sensitive radioenzymatic assay that measures directly the reductive catalysis of N(5),N(10)-methylenetetrahydrofolate. The radio-labeled substrate, [14C]N(5),N(10)-methylenetetrahydrofolate, is prepared by condensation of [C(14)]formaldehyde with tetrahydrofolate and the stability of this substrate is maintained for several months by storage at -80 degrees C in a pH 9.5 buffer. Partially purified methylenetetrahydrofolate reductase from rat liver, incubated with the radio-labeled substrate and the cofactors, NADPH and FAD at pH 7. 5, generates [14C]N(5)-methyltetrahydrofolate, which is stable and partitions into the aqueous phase after the assay is terminated with dimedone and toluene. A K(m) value of 8.2 microM was obtained under conditions of increasing substrate concentration to ensure saturation kinetics. This method is simple, very sensitive and measures directly the reduction of N(5), N(10)-methylenetetrahydrofolate to N(5)-methyltetrahydrofolate, which is the physiologic catalytic pathway for methylenetetrahydrofolate reductase.

Enlarging single CT lesions can also spontaneously resolve.

Computed tomography in two patients, aged 9 and 14 years, with history of focal seizures, revealed single, small, enhancing CT lesions. These patients were treated with albendazole and anticonvulsants. Follow-up CT scans revealed an increase in the size of the solitary lesions. They were managed conservatively and further follow-up CT scans revealed complete resolution of the lesions. The report suggests that some enlarging CT lesions may also spontaneously resolve. The most likely cause of the enlarging lesions was albendazole therapy.

Serum ionised calcium in birth asphyxia.

Serum total and ionised calcium levels were measured at birth and at 48 hours in 25 term neonates with birth asphyxia (one minute APGAR score of 6 or less) and in 25 normal term neonates (one minute APGAR score of 7 or more). Infants were categorised into two groups TAGA (term appropriate for gestational age) and TSGA (term small for gestational age). Asphyxiated infants had significantly lower serum total and ionised calcium values at birth as well as at 48 hours. Abnormal clinical features were observed in 48% of asphyxiated infants. Low ionised calcium was detected in symptomatic babies, who had otherwise normal total calcium values. Due to hyocalcemia especially ionised calcium in asphyxiated infants and high frequency of functional derangement associated with this hypocalcemioa, serial monitoring of serum isonised calcium levels is necessary.

Late bone metastasis in breast carcinoma.

A 49-year-old woman was free of metastases for 14 years after a left radical mastectomy. Metastases were found only in the skull, also the bone marrow biopsy demonstrated metastases.