A Case Report of Kidney After Heart Transplant in Patient With Fabry Disease.

Fabry disease is an X-linked inherited lysosomal storage disorder caused by a mutation in the gene encoding the enzyme α-galactosidase A. It is characterized by the accumulation of globotriaosylceramide in different tissues, resulting in a wide range of clinical presentations. Fabry cardiomyopathy and Fabry nephropathy are the disease's 2 most important life-threatening manifestations and can contribute to higher morbidity and mortality. Heart and kidney transplants can play a major role in patients with Fabry disease who develop end organ damage. We report a case of a successful heart transplant in a male patient with Fabry disease at the age of 62, followed by a kidney transplant later at the age of 69. He has had an uneventful post-transplant course and has been tolerating maintenance immunosuppression and enzyme replacement therapy with recombinant human α-galactosidase A.

Post-operative Tumor Lysis Syndrome in High-Grade Uterine Sarcoma.

Tumor lysis syndrome (TLS) is a well-known oncologic emergency. It is a constellation of metabolic derangements usually observed in hematological malignancies due to rapid cell lysis, typically due to chemotherapy or radiotherapy initiation. Spontaneous TLS is an unusual complication in solid malignancies, and only a few cases have previously been reported for spontaneous TLS in gynecological malignancies. We report a case of TLS in a 50-year-old female patient shortly after resection of high-grade uterine sarcoma. We review previous TLS cases in uterine malignancies and the associated morbidity and mortality.

Cod Liver Oil, but Not Retinoic Acid, Treatment Restores Bone Thickness in a Vitamin A-Deficient Rat.

Vitamin A plays a prominent role for maintaining optimal bone status, but its impact upon the bone in response to vitamin A deficiency is not well defined. The purpose of this study was to evaluate how replenishing vitamin A by either whole food cod liver oil (COD) or the active metabolite of vitamin A, retinoic acid (RA), altered bone thickness of vitamin A-deficient (VAD) rats. Weanling rats were administered a control diet (CTRL) or VAD diet for 9 weeks. This was followed by four weeks of treatment in which the VAD group was divided into the following 4 subgroups: (1) VAD (9 weeks)-VAD (4 weeks); (2) VAD-CTRL; (3) VAD-COD; and (4) VAD-RA. Compared to controls, VAD rats had thicker bones which showed marked dysplasia. VAD-rats treated with COD produced a thinner bone that was not significantly different from that of untreated rats. In contrast, RA did not significantly change the thicker bone, and also had significantly greater periosteal and endosteal osteoblast numbers compared to VAD-COD. Active osteoclasts were not detected in VAD rats, nor during the treatment period. These findings suggest that the abnormal bone thickness in VAD rats appears to be more effectively restored to bone thickness of untreated control rats when treated with COD.

Clinical utility of serum folate measurement in tertiary care patients: Argument for revising reference range for serum folate from 3.0 ng/mL to 13.0 ng/mL.

OBJECTIVE: Assess the need for folate testing, frequency of corrective action, and determine reference level for serum folate. METHODS: Serum folate levels in 5313 samples from 4448 patients, and clinical data were reviewed for patient characteristics and for (a) evidence of corrective action in patients with serum folate values <5.5 ng/mL, and (b) differences in patients with serum folate levels <5.5 ng/mL and patients with levels >25.7 ng/mL. RESULTS: The prevalence of serum folate levels, in patients, <3.0, <4.0, <5.5, <7.0 and <13.0 ng/mL was 0.58%, 1.55%, 4.9%, 9.98% and 43.21% respectively. Patients with serum folate levels <5.5 ng/mL had lower serum albumin and hemoglobin. In 64% of patients with serum folate >25.7 ng/mL the sample was collected after supplementation with folic acid. Of the 128 patients with serum folate <5.5 ng/mL documentation of supplementation was present in only 38.9%. CONCLUSIONS: Serum folate levels are below the current "normal" level of 3.0 ng/mL in a larger proportion of tertiary care patients than that reported for ambulatory patients. In patients with folate deficiency, corrective action is lacking in >60% of the patients. Since serum folate levels ≥13.0 ng/mL are needed for optimal prevention of neural tube defects in the embryo/fetus, we propose that normal serum folate level should be designated to be ≥13.0 ng/mL.

Effect of exendin (exenatide)--GLP 1 receptor agonist on the thyroid and parathyroid gland in a rat model.

Exenatide or Exendin-4 is a 39-amino acid agonist of the glucagon like peptide (GLP-1) receptor approved for the adjunctive treatment for type 2 diabetes. Recent reports suggest that GLP-1 agonists may also have distant effects including C-cell thyroid hyperplasia. The aim of this study was to evaluate the effect of exendin-4 on the thyroid and parathyroid cells in a rat model. Rat thyroids were stained for calcitonin, H&E and for carcinoembryonic antigen (CEA). Thyroid C-cell hyperplasia was graded on H&E stained slides using cell size and secretory granule numbers, morphological features of the parathyroid glands and the serum calcium concentrations of the rats were also evaluated. Counts of stained cells/high power field and intensity of staining were recorded by two pathologists. Data were analyzed by ANOVA/post-tests. C cell hypertrophy was elevated in exenatide-treated vs. untreated animals (22.5 ± 8.7 vs. 10.5 ± 2.7 cells/HPF). CEA staining failed to show effects by exendin. Calcitonin staining was significantly elevated in exenatide treated controls (P<0.001). Parathyroid glands were histologically normal in both groups, and serum calcium levels were within normal range in all animals. In summary, exenatide was associated with C cell hyperplasia and increased calcitonin staining of thyroids, but was unrelated to CEA levels. These data raise important concerns about the effects of exenatide which, given its wide clinical use, should be clarified with urgency.

Claudin-1 expression in squamous cell carcinomas of different organs: comparative study of cancerous tissues and normal controls.

Claudins are the main sealing proteins of the intercellular tight junctions and play an important role in cancer cell progression and dissemination. This study examined and compared the expression of claudin-1 by immunohistochemistry in 60 squamous cell carcinomas of different tissue types and normal 33 controls, arranged in 2 tissue microarray slides. A score was generated to classify claudin-1 expression into negative, low, medium, and high. Most squamous cell carcinomas (91.67%) showed positive membranous staining. Medium to high claudin-1 expression was prevalent in carcinomas from the head-neck, skin, and genitourinary regions and was less frequent in other locations. An inverse correlation was noted between claudin-1 expression and tumor grade in tumors of the genitourinary and breast-gynecologic regions. Of the normal organs, significant claudin-1 expression was present mainly in the skin whereas other epithelial tissues had only minimal to low expression levels. Claudin-1 expression in squamous cell carcinoma varies in organ-specific manner reflecting influence of local factors and different mechanisms of claudin-1 expression. Knowledge of this fact is important in planning biologic therapy targeting claudin-1.