Pigmented xerodermoid

An 18-year-old female who presented with features suggestive of pigmented xerodermoid is reported.     

Trisomy 21 with XYY

A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G-banding. Literature review revealed only 17 cases of XYY and trisomy 21 reported so far. No such case is reported in Indian literature. Relevant literature is reviwed and possible effects of trisomy 21 on XYY and that of XYY on trisomy 21 has been discussed. A routine chromosomal study even in patient with classical features of Down syndrome has been advocated. Interestingly, our patient also had left to right shunts at atrial and ductal level and tricuspid regurgitation. Given the rarity of the disorder and scanty published data the incidence, phenotype and recurrence risk are difficult to establish.     

Ursodeoxycholic acid and F(6)-D(3) inhibit aberrant crypt proliferation in the rat azoxymethane model of colon cancer: roles of cyclin D1 and E-cadherin.

We have previously demonstrated that ursodeoxycholic acid(UDCA) and a fluorinated analogue of vitamin D(3), F(6)-D(3),inhibited colonic carcinogenesis in the azoxymethane (AOM) model. Generalized colonic mucosal hyperproliferation and aberrant crypt foci (ACF) are intermediate biomarkers of colon cancer. Using these biomarkers, in this study we examined the anticarcinogenic mechanisms of these chemopreventive agents. Rats were maintained on AIN-76A chow or supplemented with 0.4% UDCA or F(6)-D(3) (2.5 nmol/kg chow) and treated weekly with AOM 20 mg i.p./kg wt or saline x 2 weeks. F(6)-D(3) was continued for an additional 2 weeks and UDCA for the duration of the study. At 40 weeks, animals received bromodeoxyuridine (BrdUrd) i.p. 2 h before sacrifice. A portion of each tumor was fixed in formalin and the remainder flash frozen. Colons were divided longitudinally and half-fixed in formalin and half in ethanol. The size and location of methylene blue-stained ACF were recorded. Cell proliferation (BrdUrd labeling) and apoptosis (terminal deoxynucleotidyl transferase-mediated nick end labeling assay) were measured in colonic crypts and tumors. Protein expression levels of several regulators of cell proliferation were analyzed by immunostaining and Western blotting. Colonic crypt cyclin D1 and E-cadherin mRNA levels were measured by real-time PCR. In saline injected controls, neither UDCA nor F(6)-D(3) alone had any effect on cytokinetic parameters or on the expression of mitogenic regulators. AOM significantly increased the proliferation (percentage of BrdUrd-positive cells) of both ACF (23.1 +/- 1.7%) and non-ACF crypts (17.6 +/- 1.6%), compared with normal colonic crypts (4.5 +/- 0.8%; P < 0.05). This hyperproliferation was accompanied by a 5-fold increase in cyclin D1 and >50% decrease in E-cadherin protein (P < 0.05) in ACF, both of which are predicted to be growth-enhancing alterations. UDCA and F(6)-D(3) significantly (P < 0.05) inhibited AOM-induced crypt cell hyperproliferation, ACF development, and tumor burden. These chemopreventive agents also significantly blocked AOM-induced alterations in cyclin D1 and E-cadherin protein in ACF and tumors. In ACF, changes in mRNA levels of cyclin D1, but not E-cadherin, paralleled alterations in protein expression. Cyclooxygenase-2 and inducible nitric oxide synthase were increased in AOM tumors but not in ACF, and these changes were blocked by UDCA and F(6)-D(3). UDCA and F(6)-D(3) significantly inhibited ACF development and hyperproliferation, in part, by preventing carcinogen-induced alterations in cyclin D1 and E-cadherin. In established tumors, UDCA and F(6)-D(3) also limited inductions of cyclooxygenase-2 and inducible nitric oxide synthase, which together with their effects on cyclin D1 and E-cadherin, contribute to their chemopreventive actions.     

Type I membranoproliferative glomerulonephritis in an HIV-infected individual without hepatitis C co-infection

Type I membranoproliferative glomerulonephritis (MPGN) is an uncommon manifestation of human immunodeficiency virus (HIV)-associated renal disease in patients co-infected with hepatitis C virus (HCV). We describe a case of Type I MPGN in an HIV-positive diabetic man with nephrotic-range proteinuria and renal insufficiency who was not co-infected with HCV. Tubuloreticular inclusions were present but there was no evidence for either cryoglobulinemia or cryoglobulin deposits in the kidney. This finding suggests that Type I MPGN may represent a reaction of the kidney to HIV independent of the effects of HCV co-infection. Clinical suspicion must be maintained for Type I MPGN in all HIV infected patients presenting with significant proteinuria regardless of HCV infection status.     

A simple high-performance liquid chromatography method for the quantitation of tricyclic antidepressant drugs in human plasma or serum

OBJECTIVE: A simple reversed-phase high performance liquid chromatography method with a variable wavelength detection has been developed for determining the commonly used tricyclic antidepressant drugs in plasma. METHODS: The assay procedure involves a liquid-liquid extraction with an initial extraction into hexane:ethyl acetate after basification of the homogenate. The column used was a Supelco Hypersil 5 microm, 150 x 3.2 mm. The mobile phase was acetonitrile, methanol, and phosphate buffer (0.01M, pH 7.4) at 12:3:5 ratio (v/v/v). RESULTS: The recoveries ranged from 89 to 108% and the day-to-day precision was 1.1 to 13% CV depending on the compound. The method is sensitive to 15 ng/mL and linear to 400 ng/mL with a 25 microL injection. CONCLUSION: This method is simple, sensitive, precise, inexpensive, and is currently used in our laboratory for therapeutic monitoring of tricyclics. The data generated by this method were within the range outlined by the College of American Pathologists.     

Autopsy incidence of pulmonary vascular episodes. A study of 218 cases

Pulmonary thromboembolism is a rarity in India. This common clinical impression has so far not been tested. Among 7000 autopsies between 1964 and 1980, a total of 218 cases (126 males and 92 females) were recorded to have thrombosis and/or embolism and/or infarction in the lungs. This incidence of 3.1% is far lower than that reported in the West and similar to the low incidence in Africa. Of the 218 cases, 42.6% had a cardiac disease, 18.3% had systemic septicemia, 13% had a malignancy, 12.8% had pulmonary disease, and the remaining suffered from diseases of liver, kidney, CNS, etc. Of the 218 cases, 141 (64.6%) showed only infarcts, 40 (18.3%) had only thromboemboli, and 37 (16.9%) showed both events. In view of the overlap among these three conditions and their essential pathophysiologic identity (thrombus/embolism/infarction), it is suggested that these be grouped under the name "pulmonary vascular episode."     

Hypothyroidism is a predisposing factor for fenofibrate-induced rhabdomyolysis--patient report and literature review

A literature survey reveals that both lipid lowering drugs - statins and fibrates--and hypothyroidism are documented causes of muscle disorders including rhabdomyolysis leading to acute renal failure. We describe a case of fenofibrate monotherapy (Lipicard) induced dialysis dependent acute renal failure in an undiagnosed hypothyroid patient which is the first case to be reported from Sri Lanka. We strongly recommend that all patients who are receiving statins and/or fibrates should be screened for occult hypothyroidism which seems to aggravate the muscle damage due to the above drugs, with or without other risk factors.     

Ethanolamine oleate sclerotherapy versus simple cyst aspiration in the management of orbitopalpebral cyst associated with congenital microphthalmos

PURPOSE: To evaluate the efficacy of ethanolamine oleate (EO) sclerotherapy in the management of orbitopalpebral cysts associated with congenital microphthalmos, and compare it with simple cyst aspiration. METHODS: Retrospective, interventional comparative case series of 12 orbitopalpebral cysts of 8 patients associated with congenital microphthalmos. Five cysts were treated with simple aspiration and 7 cysts with EO sclerotherapy. Cyst resolution was the main outcome measure. RESULTS: Five cysts underwent aspiration alone at a median age of 12 weeks. One (20%; 95% CI, 0%-55.1%) of these 5 showed complete resolution. Seven cysts (6 patients) underwent aspiration combined with EO sclerotherapy at a median age of 30 weeks (3 had recurred following prior cyst aspiration). Postsclerotherapy, 6 eyes (85.7%; 95% CI, 59.8%-100%) showed complete cyst resolution (p = 0.072, Fisher exact test). The mean follow-up was 8.8 months (range, 3-23 months). In the EO group, 1 cyst (14.3%) required repeat sclerotherapy and another cyst showed partial resolution at 6 weeks. The number needed to treat with sclerotherapy to prevent 1 recurrence was 2 (1-5, 95% CI). No procedure-related complications were noted. CONCLUSIONS: Simple aspiration of orbitopalpebral cyst is associated with a high recurrence rate and should be reserved for early prognostication of visual potential in the microphthalmic eye. Minimally invasive EO sclerotherapy provides a rapid, effective, and uncomplicated treatment modality for definitive therapy, and should be preferred in cases with no visual prognosis in the microphthalmic eye demonstrating adequate bony orbital expansion.