A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism

Congenital hypoparathyroidism typically manifests with hypocalcemia with or without associated characteristic physical findings and is usually diagnosed during the neonatal period. This report describes an African-American male who was diagnosed at age 32 yr to have dysgenesis of the parathyroid glands due to chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 yr, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 yr. Chromosome 22q11 deletion syndrome was first suspected at age 32 yr, based on the findings of subtle dysmorphic facial features and a history of learning disability in a patient with PTH-deficient hypocalcemia. The diagnosis was confirmed by fluorescence in situ hybridization analysis.This case underscores the variable clinical presentation of this congenital form of hypoparathyroidism. Chromosome 22q11 microdeletions are relatively common, and the diagnosis should be considered even in adults with hypoparathyroidism because of the potential benefit of genetic counseling.     

Exploratory factor analysis and validation study of the lifetime severity index for cocaine, Spanish version (LSI-C-Spanish)

The purpose of the study was to do an exploratory factor analysis and to examine the criterion-related and discriminant validity of the Lifetime Severity Index for Cocaine (LSI-C), Spanish version. A sample of 171 outpatients from 10 drug centers in Spain participated in the study. We conducted the factor analysis with orthogonal rotation and examined correlations between the LSI-C total score and criterion variables as well as the score obtained by a quality of life measure. The factor analysis revealed 2 principal factors that explain 65.8% of the variance. Lower LSI-C scores were associated with taking medication, receiving social help, using cocaine fewer than 30 times during the previous 6 months, and with better scores on quality of life measures. Higher LSI-C scores were associated with unstable housing, overdose, hospitalization, cocaine consumption more than 100 times during the previous 6 months, and more years of drug consumption. The LSI-C Spanish version shows acceptable criterion-related and discriminant validity.     

Prevention of thiazide-induced hypokalemia without magnesium depletion by potassium-magnesium-citrate

Thiazide can cause magnesium depletion, which may exaggerate renal potassium wasting and hypokalemia. The purpose of this double-blind, randomized trial was to compare the metabolic effects of potassium-magnesium-citrate (K-Mg-citrate) and potassium chloride (KCl) during long-term treatment with thiazide. Twenty-two normal volunteers received hydrochlorothiazide 50 mg/d. Ten subjects concurrently took K-Mg-citrate (42 mEq K/d and 21 mEq Mg/d), and 12 subjects were given KCl 42 mEq/d. Serum potassium concentration remained unchanged during K-Mg-citrate supplementation, with a change from baseline of 21.7% over 6 months, compared with 26.4% with KCl supplementation. Serum electrolytes were normal and not significantly different between K-Mg-citrate and KCl. During K-Mg-citrate treatment, serum magnesium increased significantly by about 10%, associated with an adequate increase in urinary magnesium and a nonsignificant increase in monocyte and free muscle magnesium. Serum magnesium was unchanged, and monocyte and free muscle magnesium showed a nonsignificant decline during KCl supplementation. K-Mg-citrate provided an alkali load, increasing urinary pH, and reducing urinary undissociated uric acid. It also increased urinary citrate and tended to lower the saturation of calcium oxalate. KCl supplementation lacked these actions. K-Mg-citrate prevents thiazide-induced hypokalemia without provoking metabolic alkalosis. It seems to prevent magnesium depletion. By providing an alkali load, it retards the propensity for the crystallization of uric acid and probably of calcium oxalate. Though not conclusive, KCl supplementation may be less effective than K-Mg-citrate in maintaining normokalemia because of a subtle magnesium wasting. Moreover, KCl is devoid of protective action toward crystallization of stone-forming salts.     

Association between pre-treatment perfusion profile and cerebral edema after reperfusion therapies in ischemic stroke

The relationship between reperfusion and edema is unclear, with experimental and clinical data yielding conflicting results. We investigated whether the extent of salvageable and irreversibly-injured tissue at baseline influenced the effect of therapeutic reperfusion on cerebral edema. In a pooled analysis of 415 patients with anterior circulation large vessel occlusion from the Tenecteplase-versus-Alteplase-before-Endovascular-Therapy-for-Ischemic-Stroke (EXTEND-IA TNK) part 1 and 2 trials, associations between core and mismatch volume on pre-treatment CT-Perfusion with cerebral edema at 24-hours, and their interactions with reperfusion were tested. Core volume was associated with increased edema (p < 0.001) with no significant interaction with reperfusion (p = 0.82). In comparison, a significant interaction between reperfusion and mismatch volume (p = 0.03) was observed: Mismatch volume was associated with increased edema in the absence of reperfusion (p = 0.009) but not with reperfusion (p = 0.27). When mismatch volume was dichotomized at the median (102 ml), reperfusion was associated with reduced edema in patients with large mismatch volume (p < 0.001) but not with smaller mismatch volume (p = 0.35). The effect of reperfusion on edema may be variable and dependent on the physiological state of the cerebral tissue. In patients with small to moderate ischemic core volume, the benefit of reperfusion in reducing edema is related to penumbral salvage.     

Altered glycosaminoglycan production by HL-60 cells treated with 4- methylumbelliferyl-beta-D-xyloside

Glycosaminoglycans, mainly chondroitin 4-sulfate, are located in the primary granules of human myeloid cells. These polyanionic carbohydrates are believed to play an important role in leukocyte maturation and function. To study the effect of altered chondroitin sulfate metabolism on human promyelocytic leukemia cells, we have treated HL-60 cells with 4-methylumbelliferyl-beta-D-xyloside. beta-D- Xylosides initiate the synthesis of free chondroitin sulfate chains. Cytochemical studies of treated cells demonstrated a marked increase in cytoplasmic granules stained with cationic dyes. This was confirmed by radiolabeled precursor incorporation studies that demonstrated a 344% increase in 35S-sulfate uptake into glycosaminoglycans associated with the cells and a 39% increase in incorporation into glycosaminoglycans released into the media. Chromatographic analyses of these glycosaminoglycans from treated cells demonstrated that the newly formed chondroitin sulfate chains were not attached to protein core and were of shorter length, but of greater charge density than chondroitin sulfate produced by control cells. Thus, beta-D-xyloside appears to alter the protein linkage, chain length, and sulfation of chondroitin sulfate produced by HL-60 cells, and these changes are morphologically evident. These biochemically altered cells may provide important information concerning the role of these macromolecules in myeloid development.     

Underuse of screening mammography by family physicians

Although the American College of Radiology, the National Cancer Institute, and the American Cancer Society recommend screening mammography for women more than 40 years old, there is little compliance with these recommendations. Primary-care physicians are often reluctant to refer patients for the procedure, whereas the patients are usually willing to undergo the procedure. This survey documents the underuse of screening mammography by family physicians who are members of the Michigan Academy of Family Physicians. The underuse of mammography by this physician sample was due to two main factors: The physicians perceived far more disadvantages than advantages with mammography and perceived problems (with, e.g., equipment, effectiveness, and patient acceptance) as pervasive. To change the attitudes and referral behavior of family physicians, one must take into account the specific, negative perceptions of the procedure and place an emphasis on the initial referral, since subsequent referrals are easier to implement.     

Studies on the hypoglycemic effects of Murraya paniculata Linn. extract on alloxan-induced oxidative stress in diabetic and non-diabetic models

ObjectiveTo evaluate the effect of extract of Murraya paniculata Linn. (Family – Rutaceae) on blood glucose, cholesterol, triglyceride and lipid level and antioxidant status in alloxan induced diabetic and non-diabetic rats.MethodsHydro-alcoholic extract of M. paniculata leaves (100, 200 and 400 mg/kg) was administered orally for 14 days and its effect on blood glucose, cholesterol, triglycerides and lipid level were estimated in serum. Liver free radical (lipid peroxidation, LPO) and antioxidant (Super oxide dismutase, SOD; catalase, CAT; and reduced glutathione peroxidase, GPx) were also measured after 14 days treatment with extract. Glucose level in non-diabetic rats was estimated after 21 days treatment with M. paniculata extract.ResultsOral administrations of M. paniculata extract (100, 200 and 400 mg/kg) for 14 days significantly reduced the levels of blood glucose, cholesterol, and triglyceride and lipid level. Liver free radical (LPO) significantly reduced and antioxidants (SOD, CAT and GPx) status significantly increase after 14 days treatment of extract in diabetic rats. M. paniculata 200 and 400 mg/kg significantly decrease glucose level in non-diabetic rats after 21 day and caused hypoglycemia in normal rats.ConclusionsM. paniculata leaves extract posses hypoglycemic effect in oxidative stress condition and also in non-diabetic condition. Hypoglycemic action may be by potentiating of the insulin effect by increasing either the pancreatic secretion of insulin from beta cells of islets of langerhans or its release from the bound form. M. paniculata could be a potential source of hypoglycemic agent with antioxidant properties.     

Osteoporosis: how should it be treated?

Osteoporosis develops as a result of imbalance between bone resorption and bone formation. A number of effective and safe therapies for osteoporosis are currently available, most of which are inhibitors of bone resorption. However, because osteoporosis is a complex and heterogeneous disease with different pathogenetic factors, defining the role of the different factors in its development is important in formulating a more selective approach to therapy. This review discusses the advantages and disadvantages of the currently available agents used in the management of osteoporosis.