Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

.We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria. One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated creatinine clearances. ^99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by ^99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early stage of disease. Received November 14, 1995; received in revised form and accepted May 23, 1996     

An algorithm for deciding alternative grafting materials used in secondary rhinoplasty.

Severe middle vault deformity with disturbed nasal form and function is one of the most challenging procedures to correct in a secondary rhinoplasty. Reconstructing the deformity with autologous septal cartilage would be the primary choice of most surgeons, if it were always available. However in certain cases the lack of a sufficient quantity of autologous cartilage has forced surgeons to explore other viable options. This paper discusses our experience with the combined use of spreader and dorsal onlay grafts from various materials in the reconstruction of severe middle vault deformity in 110 patients. In follow up, (between 6 and 42 months; mean 21 months) all patients were noted to have improved in both aesthetics and function with no major complications noted. In summary, this study proposes that any engrafting material can be used safely when the proper surgical principals and technique are employed.     

The effects of hypothyroidism in rats on serum leptin concentrations and leptin mRNA levels in adipose tissue and relationship with body fat composition

Both thyroid hormones and leptin affect sympathetic nervous system activity, basal metabolic rate, body fat mass, food intake, and thermogenesis, and each one also affects the actions of the other. We examined the alterations in serum leptin concentrations and leptin mRNA expression in hypothyroid rats and investigated the relation between serum leptin and leptin mRNA levels with the total adipose tissue mass and total body weight. Twenty male Wistar rats were divided into 2 groups, euthyroid and hypothyroid. Their body compositions were examined by Dual Energy X-ray Absorptiometry at the beginning and end of the study. Serum leptin concentrations and levels of leptin mRNA in the retroperitoneal white adipose tissue were measured at the end of the study. Serum leptin concentrations did not show any difference between the two groups (1.9 +/- 0.2 ng/ml in the hypo and euthyroid group, P > 0.05), but the fat mass of the hypothyroid rats were lower than the euthyroid rats (21.1 +/- 2.5 g in the euthyroid group and 14.2 +/- 1.9 g in the hypothyroid group, P > 0.05 between groups at the end of the study) although the difference between the groups was statistically not significant. Leptin mRNA level was significantly higher in the hypothyroid group than in the euthyroid group (21.6 +/- 1.6 vs. 15.1 +/- 1.2 ng respectively, P = 0.002) although the dissected retroperitoneal fat weight was significantly lower in the hypothyroid group versus the euthyroid group (1.0 +/- 0.2 vs. 1.8 +/- 0.2 g respectively, P = 0.013). In conclusion, the change of leptin mRNA expression in white adipocytes was thought to be the direct result of hypothyroidism or a compensatory response to metabolic changes caused by hypothyroidism.     

A multicenter experience of thrombotic microangiopathies in Turkey: The Turkish Hematology Research and Education Group (ThREG)-TMA01 study

Thrombotic microangiopathies (TMAs) are rare, but life-threatening disorders characterized by microangiopathic hemolytic anemia and thrombocytopenia (MAHAT) associated with multiorgan dysfunction as a result of microvascular thrombosis and tissue ischemia. The differentiation of the etiology is of utmost importance as the pathophysiological basis will dictate the choice of appropriate treatment.We retrospectively evaluated 154 (99 females and 55 males) patients who received therapeutic plasma exchange (TPE) due to a presumptive diagnosis of TMA, who had serum ADAMTS13 activity/anti-ADAMTS13 antibody analysis at the time of hospital admission. The median age of the study cohort was 36 (14-84). 67 (43.5%), 32 (20.8%), 27 (17.5%) and 28 (18.2%) patients were diagnosed as thrombotic thrombocytopenic purpura (TTP), infection/complement-associated hemolytic uremic syndrome (IA/CA-HUS), secondary TMA and TMA-not otherwise specified (TMA-NOS), respectively. Patients received a median of 18 (1­75) plasma volume exchanges for 14 (153) days. 81 (52.6%) patients received concomitant steroid therapy with TPE. Treatment responses could be evaluated in 137 patients. 90 patients (65.7%) achieved clinical remission following TPE, while 47 (34.3%) patients had non-responsive disease. 25 (18.2%) non-responsive patients died during follow-up. Our study present real-life data on the distribution and follow-up of patients with TMAs who were referred to therapeutic apheresis centers for the application of TPE.     

Late hemodynamic changes in percutaneous mitral valvuloplasty

Percutaneous mitral valvuloplasty (PMV) was performed in 57 patients with mitral stenosis. Twenty-three women and 34 men (mean age 28 +/- 10 mean +/- SD) were included in the study. A single-balloon (trefoil or bifoil) technique was used in 49 patients and a double-balloon (trefoil + monofoil) technique in eight. After a 3-month follow-up period, right- and left-sided cardiac catheterization was repeated. In the single-balloon group there was improvement in the mitral valve gradient (16.10 +/- 5.99 to 4.41 +/- 2.03 mm Hg), mean left atrial pressure (22.65 +/- 6.13 to 9.76 +/- 3.01 mm Hg), and mitral valve area (0.89 +/- 0.22 to 1.95 +/- 0.46 cm2/m2). Mean pulmonary artery pressure and mean pulmonary wedge pressure decreased to 19.33 +/- 4.19 mm Hg and 10.73 +/- 2.60 mm Hg from 32.94 +/- 7.90 mm Hg and 21.49 +/- 5.98 mm Hg. Cardiac output increased to 6.86 +/- 0.56 L/min from 5.57 +/- 0.66. All improvements were statistically significant (p less than 0.001). In the double-balloon study group, mitral valve gradient (23.75 +/- 2.77 to 4.50 +/- 1.94 mm Hg), mean left atrial pressure (31.63 +/- 3.57 to 9.50 +/- 1.94 mm Hg), mean pulmonary artery pressure (44.00 +/- 6.36 to 18.88 +/- 7.10), and mean pulmonary wedge pressure (29.25 +/- 3.73 to 10.25 +/- 1.85 mm Hg) all improved significantly (p less than 0.001). Mitral valve area and cardiac output increased from 0.89 +/- 0.15 to 2.44 +/- 0.44 cm2/m2 (p less than 0.001) and from 5.46 +/- 0.76 to 7.15 +/- 0.52 L/min (p less than 0.002), respectively.(ABSTRACT TRUNCATED AT 250 WORDS)     

Anaphylactic reaction to drugs commonly used for gastrointestinal system diseases: 3 case reports and review of the literature.

Proton pump inhibitors and H2 receptor antagonists, which are commonly used to treat peptic ulcer and gastroesophageal reflux diseases, are associated with a low incidence of adverse reactions. We report 3 cases of anaphylactic reactions induced by lansoprazole or ranitidine diagnosed in a population of 8304 first-referral patients over a 13-year period. Cutaneous sensitivity to famotidine, ranitidine, omeprazole, pantoprazole, and lansoprazole was evaluated by skin prick tests with a concentration of 10 mg/mL (at 1:1000, 1:100, 1:10 and 1:1 dilutions), and if they were negative, intradermal skin tests were performed with the same dilutions of the extracts. Single-blind, placebo-controlled oral provocation tests were performed with lansoprazole, omeprazole, famotidine, and ranitidine in 2 cases. One case involved anaphylaxis during an oral provocation test with lansoprazole, and 2 cases were anaphylactic reactions to ranitidine. In both cases the skin test was positive for ranitidine and in 1 case an oral provocation test was also positive. The second patient refused that test. Cross reactivity to other H2 receptor antagonists was not demonstrated and a safe alternative drug was found for all 3 patients. Although incidences of anaphylactic reactions induced by proton pump inhibitors or H2 reactions are rare, they can be life threatening.     

Genome-wide profiling of blood pressure in adults and children

Hypertension is an important determinant of cardiovascular morbidity and mortality and has a substantial heritability, which is likely of polygenic origin. The aim of this study was to assess to what extent multiple common genetic variants contribute to blood pressure regulation in both adults and children and to assess overlap in variants between different age groups, using genome-wide profiling. Single nucleotide polymorphism sets were defined based on a meta-analysis of genome-wide association studies on systolic blood pressure and diastolic blood pressure performed by the Cohort for Heart and Aging Research in Genome Epidemiology (n=29 136), using different P value thresholds for selecting single nucleotide polymorphisms. Subsequently, genetic risk scores for systolic blood pressure and diastolic blood pressure were calculated in an independent adult population (n=2072) and a child population (n=1034). The explained variance of the genetic risk scores was evaluated using linear regression models, including sex, age, and body mass index. Genetic risk scores, including also many nongenome-wide significant single nucleotide polymorphisms, explained more of the variance than scores based only on very significant single nucleotide polymorphisms in adults and children. Genetic risk scores significantly explained ≤1.2% (P=9.6*10(-8)) of the variance in adult systolic blood pressure and 0.8% (P=0.004) in children. For diastolic blood pressure, the variance explained was similar in adults and children (1.7% [P=8.9*10(-10)] and 1.4% [P=3.3*10(-5)], respectively). These findings suggest the presence of many genetic loci with small effects on blood pressure regulation both in adults and children, indicating also a (partly) common polygenic regulation of blood pressure throughout different periods of life.