9 772158 284007 0 7 International Journal of Clinical Medicine, 2016, 7, 433-518 Published Online July 2016 in SciRes. http://www.scirp.org/journal/ijcm Table of Contents Volume 7 Number 7 July 2016 End Stage Renal Disease in a Child with Epidermolysis Bullosa F. Cavagnaro, M. J. Yubero, M. Valenzuela, F. Palisson…………………………………………………………………………………………433 Comparative Costs of Different Renal Replacement Therapies in Lower Middle Income Countries on the Example of Georgia A. Tataradze, G. Managadze, L. Beglarashvili, N. Kipshidze, L. Managadze, A. Chkhotua………………………………………437 Excessive Weight Loss Following Laparoscopic Gastric Mini Bypass or Roux-En-Y Gastric Bypass Surgery A. Pazouki, S. K. Esmaeili…………………………………………..……………………………………………………………………………………………445 Holmes Heart and HIV: A Rare Combination of Two “H”s in a 23-Year-Old Widow A. N. Otikunta, P. K. Alane, Y. S. Reddy, S. Imamuddin……………………………………………………………………………………………450 Comparison of Blood Pressure Patterns of Teaching and Non-Teaching Staff of a Nigerian University R. A. Adedoyin, T. O. Awotidebe, A. O. Borode, R. N. Ativie, M. A. Akindele, V. O. Adeyeye, O. E. Johnson……………454 Perineal Electric Burn Reconstruction Using Modified Thoraco-Umbilical Flap B. Xu, J. L. Wang…………………………………………………….………………...……………………………………………………………………………461 Functional Capacity and Psychosocial Correlates of Exercise in Nigerian Patients with Hypertension T. O. Awotidebe, V. O. Adeyeye, R. N. Ativie, R. A. Adedoyin, A. O. Borode, M. O. Balogun, M. A. Akindele…………464 Clinical Assessment of the Use of Propinox Hydrochloride and Scopolamine Hydrochloride in the Treatment of Abdominal Colic: A Retrospective, Comparative Study H. Rzetelna, C. F. P. A. Rosa, M. Kirzner, L. P. J. de Medeiros, C. Melo, M. G. Ribeiro, L. Oliveira, J. G. Alves, M. Geller………………………………………………………………………………………………………………………………………………………………474 Sleep Quality in Non Dialysis Chronic Kidney Disease: Associated Factors and Influence on Prognosis J. Calviño, L. Gonzalez-Tabarés, S. Cigarrán, B. Millán, M. Guijarro, C. Cobelo, M.-J. Sobrido…………………………………481 MELAS, MIDD and Beyond: m.3243A>G MT-TL1 Mutation in Adult Patients B. Sheng, M. K. Fong, W. K. Ng, S. P. L. Chen, C. M. Mak………………………………………………………………………………………487 Macrophage TGF-β1 and the Proapoptotic Extracellular Matrix Protein BIGH3 Induce Renal Cell Apoptosis in Prediabetic and Diabetic Conditions R. J. Moritz, R. G. LeBaron, C. F. Phelix, R. Rupaimoole, H. S. Kim, A. Tsin, R. Asmis………………………………………………496 Role of Community Health Practitioners in National Development: The Nigeria Situation A. S. Ibama, P. Dennis……………………………………………………………………………………………………………………………………………511 The figure on the front cover is from the article published in International Journal of Clinical Medicine, 2016, Vol. 7, No. 7, pp. 487-495 by Bun Sheng, Man Kei Fong, Wing Kwan Ng, Sammy Pak Lam Chen and Chloe Miu Mak. International Journal of Clinical Medicine (IJCM) Journal Information SUBSCRIPTIONS The International Journal of Clinical Medicine (Online at Scientific Research Publishing, www.SciRP.org) is published monthly by Scientific Research Publishing, Inc., USA. Subscription rates: Print: $79 per issue. To subscribe, please contact Journals Subscriptions Department, E-mail: [email protected] SERVICES Advertisements Advertisement Sales Department, E-mail: [email protected] Reprints (minimum quantity 100 copies) Reprints Co-ordinator, Scientific Research Publishing, Inc., USA. 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PRODUCTION INFORMATION For manuscripts that have been accepted for publication, please contact: E-mail: [email protected] International Journal of Clinical Medicine, 2016, 7, 433-436 Published Online July 2016 in SciRes. http://www.scirp.org/journal/ijcm http://dx.doi.org/10.4236/ijcm.2016.77045 End Stage Renal Disease in a Child with Epidermolysis Bullosa Felipe Cavagnaro1,2,3*, María Joao Yubero2,3, Marcela Valenzuela4, Francis Palisson1,2,3 1Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile 2Clínica Alemana de Santiago, Santiago, Chile 3Fundación DEBRA-Chile, Santiago, Chile 4Unidad de Nefrología Pediátrica, Hospital Guillermo Grant Benavente, Concepción, Chile Received 1 April 2016; accepted 2 July 2016; published 5 July 2016 Copyright © 2016 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/ Abstract Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through sever- al mechanisms, mainly immunological ones. The present case described a young male with dy- strophic recessive EB who developed an advanced chronic renal damage secondary to tubuloin- terstitial nephritis that was demonstrated by a renal biopsy. Unpublished previously, this compli- cation should be considered among the possible causes of renal damage in EB. Also it is recom- mended a protocoled surveillance of renal and urinary tract complications in children with EB. Keywords Epidermolysis Bullosa, Tubulointerstitial Nephritis, Chronic Renal Failure, Dialysis 1. Introduction Epidermolysis bullosa (EB) syndromes are a group of genetic mechanobullous skin disorders that share a com- mon feature of blister formation occurring with little or minor trauma, and are classified nowadays under the group of genodermatoses. EB may be broadly differentiated into four main groups by the level at which the se- paration occurs: at the intraepidermal level (EB simplex), intra-lamina lucida (junctional EB), sub-basal lamina level (dystrophic EB) and Kindler syndrome. Further distinctions are made according to mode of inheritance, extent of disease (localized, generalized), associated features, and underlying genetic alterations [1]. New EB phenotypes, genotypes and modes of transmission have been identified recently, each of which has its own rela- tive risk for the development of specific extracutaneous complications and/or premature death [2]. Among these, *Corresponding author. How to cite this paper: Cavagnaro, F., Yubero, M.J., Valenzuela, M. and Palisson, F. (2016) End Stage Renal Disease in a Child with Epidermolysis Bullosa. International Journal of Clinical Medicine, 7, 433-436. http://dx.doi.org/10.4236/ijcm.2016.77045 F. Cavagnaro et al. a small but important proportion may develop significant renal and urological complications which can have a major impact on their quality of life, morbidity and mortality [3]. The present article describes a child with dy- strophic EB who developed end stage renal disease (ESRD) secondary to a chronic, although undetected, tubu- lointerstitial nephritis (TIN), an unreported renal complication of EB. 2. Case Report A 13-year-old white male affected with severe generalized recessive dystrophic EB was evaluated in a regular health control by the medical team of DEBRA (Dystrophic Epidermolysis Bullosa Research Association)-Chile. He had a homozygous mutation (+/+) COL7A1: c.7708delG, exon 103 and clinically characterized by bilateral pseudo syndactyly, esophageal stricture, which required dilatation, recurrent corneal ulcers, chronic anemia and severe malnutrition. He was doing fine, asymptomatic, but with many skin lesions and blisters in his extremities. No laboratory test regarding renal function or abdominal ultrasound was done in the last 6 months. He had been receiving multivitamins, hydroxyzine, chlorpheniramine, zinc, famotidine and lactulose for the last 6 months, and occasionally non-steroidal anti-inflammatory drugs (NSAIDs) and systemic antibiotics for inter current in- fections. His urine output was normal, with no edema, blood pressure in normal range for age, sex and height. Among the lab test done, drew attention a serum creatinine of 2.4 mg/dl and BUN 48 mg/dl. His phosphorus was 6 mg/dl, calcium 8.2 mg/dl, hematocrit 20.8%, normal plasma electrolytes, venous blood pH of 7.28 and bicarbonate 16 mEq/L. Urinalysis without hematuria, leucocyturia or casts, urine protein/creatinine ratio of 1.77. Renal ultrasound showed kidneys of normal size but with increased cortical echogenicity, the parenchymal blood flow was normal, with resistive index in normal range. Repeated serum creatinine one week later was 2.74 mg/dl. A renal biopsy was performed (Figure 1) showing multifocal tubular atrophy and interstitial fibrosis in- volving up to 50% of the examined