Metabolic Alkalosis

Metabolic alkalosis is a disorder where the primary defect, an increase in plasma bicarbonate concentration, leads to an increase in systemic pH. Here we review the causes of metabolic alkalosis with an emphasis on the inherited causes, namely Gitelman syndrome and Bartter syndrome and syndromes which mimic them. We detail the importance of understanding the kidney pathophysiology and molecular genetics in order to distinguish these syndromes from acquired causes. In particular we discuss the tubular transport of salt in the thick ascending limb of the loop of Henle, the distal convoluted tubule and the collecting duct. The effects of salt wasting, namely an increase in the renin-angiotensin-aldosterone axis are discussed in order to explain the biochemical phenotypes and targeted treatment approaches to these conditions

Cystinuria: A Review of Inheritance Patterns, Diagnosis, Medical Treatment and Prevention of Stones

Cystinuria is a rare inherited renal stone disease. Mutations in two genes SLC3A1 and SLC7A9 underlie this condition, encoding proteins that facilitate dibasic amino acid exchange which are expressed in the gut and the proximal tubule of the kidney. Genetic studies now allow precise genotyping of patients who may have both autosomal dominant and autosomal recessive patterns of disease. The disorder is characterised by the urinary loss of cystine, lysine, ornithine, and arginine, and the insolubility of cystine gives rise to crystalluria and cysteine-containing renal stones. Although an inherited condition, it may present at any age. Clinical management combines lifestyle advice and preventative medical therapy. However, many patients require surgical interventions to remove problematic stones from the urinary tract. Preventative therapies include increased fluid intake, alkalinization of the urine, and the use of cystine-binding drugs, including penicillamine and tiopronin, which form soluble heterodimers with cystine

Clinical and Biochemical Features of Patients with CYP24A1 Mutations

The CYP24A1 gene encodes 1,25-hydroxyvitamin-D3-24-hydroxylase, a key enzyme responsible for the catabolism of active vitamin D (1,25-dihydroxyvitamin D3). Loss-of-function mutations in CYP24A1 lead to increased levels of active vitamin D metabolites. Clinically, two distinct phenotypes have been recognised from this: infants with CYP24A1 mutations present with infantile idiopathic hypercalcaemia, often precipitated by prophylactic vitamin D supplementation. A separate phenotype of nephrolithiasis, hypercalciuria and nephrocalcinosis often presents in adulthood. CYP24A1 mutations should be suspected when a classical biochemical profile of high active vitamin D metabolites, high or normal serum calcium, high urine calcium and low parathyroid hormone is detected. Successful treatment with fluconazole, a P450 enzyme inhibitor, has been shown to be effective in individuals with CYP24A1 mutations. Although CYP24A1 mutations are rare, early recognition can prompt definitive diagnosis and ensure treatment is commenced

Reviews

The following publications have been reviewed by the mentioned authors;The Child and the City by Colin Ward, reviewed by John EgglestonEngineering Science for Technicians Vol. 1 by M. Donagh, Waterworth and Phillips, reviewed by Michael SayerTeaching Industrial Education Principles and Practices by Robert C. Andrews and Emanuel E. Ericson, reviewed by Denis TabernerSalt-Glazed Ceramics by Jack Troy, reviewed by Michael PaffardAmerican Book Design and William Morris by Susan Otis Thompson, reviewed by John EgglestonTerracotta: the Technique of Fired Clay Sculpture by Bruno Luccessi and Margit Malstrom, reviewed by Michael Paffar

Clinical versus research genomics in kidney disease

Key differences exist between clinical and research genomics. As genomic testing is adopted in nephrology clinical care, we propose focusing on clinical genomics approaches to obtain genetic diagnoses in order to ensure optimal use of resources and maximum patient benefit

INGLATERRA (Reino Unido). Mapas generales (1764-1792?). 1:400000

Carta arrumbada que comprende además la costa oriental de Irlanda e Irlanda del Norte y la meridional de EscociaDedicatoria : "To His Highnesse the Duke of Cumberland"Fecha de publicación deducida teniendo en cuenta el período en el que pudieron haber trabajado juntos los tres editoresEscalas gráficas de 30 millas grandes de 52 al grado [= 15,9 cm], 30 millas medianas de 60 al grado [= 13,15 cm] y 30 millas pequeñas de 70 al grado [= 11,4 cm]. Coordenadas referidas al meridiano de Londres (O 7°24'--E 3°38'/N 55°41'--N 49°57'). Red geográfica de 20' en 20'. Orientado con lis en nudos de rumbos, constando en uno de ellos, la mención nominal de todos los vientosOrografía de perfil. Indica bancos y bajosLíneas divisorias entre los condados diferenciados por colorDos tablas de signos convencionales para indicar los distintos tipos de poblción, obispados, parroquias, universidades, carreteras, límites de los distintos tipos de divisiones administrativas y batallasTítulo y dedicatoria enmarcados por cartela decorada con motivos alegóricos a la guerra, vegetales y ángeles ; otra enmarcando pie de imprenta y una tabla de signos convencionales decorado con motivos vegetalesForma parte de la Colección MendozaInserta : "The Islands of Scilly

Reviews

The following publications have been reviewed by the mentioned authors;Beginning Graphical Communication by M. Jordan, B. Hawtin and A. Neil, reviewed by John LeesArt Related Topics by Bob Nunn and Chris Locke, reviewed by A. CharltonHandbook for Art and Design Students by Robin Jesson, reviewed by John LancasterDrawing and Cognition Descriptive and Experimental Studies of Graphic Production Processes by Peter Van Sommers, reviewed by Pamela M. SchenkThe Student's Guide to Western Calligraphy an Illustrated Survey by Joyce Irene Whalley, reviewed by John LancasterSource Directory for Authentic Indian, Eskimo and Aleut Arts and Crafts by the Indian Arts and Crafts BoardMarianne Straub by Mary Schoeser, reviewed by Kim GreerMisha Black by Avril Blake, reviewed by Kim Greer'Working in Crafts' - A National Survey by the Crafts Council, reviewed by L. SayerDirectory of Design Expertise by the Design Council, reviewed by R. Smit

Reviews

The following publications have been reviewed by the mentioned authors;The Art of Print Making by Erich Rhein, reviewed by John LancasterDevelopments in Art Teaching by Terence Wooff, reviewed by John LancasterResources by Jack Bainbridge, reviewed by Michael SayerPower by Jack Bainbridge, reviewed by Michael SayerThe Potter's Complete Book of Clay and Glazes by James Chappell, reviewed by Michael PaffardWriting and Illuminating Lettering by Edward Johnston, reviewed by John LancasterBasic Mathematics for Technicians by C. W. Schofield, reviewed by F. R. WatsonDesign and Technology - Plastics by R. Millett, reviewed by Michael SayerObjective and Completion Tests in CSE Woodwork Theory by Ernest Clarke, reviewed by Denis TabernerObjectice and Completion Tests in CSE Metalwork Theory by Ernest Clarke, reviewed by Denis Taberne