Vol 3-3 Mini Review

Geographic Diversity in Atypical Hemolytic Uremic Syndrome (aHUS): The Genetic Background of aHUS Cohort in Japan

Yoichiro Ikeda*, Yoko Yoshida, Yuuka Sugawara, Masaomi Nangaku

Division of Nephrology and Endocrinology, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by the dysfunction of the alternative pathway of the complement system, which leads to the spontaneous activation of the complement system in the circulating plasma or cell surface. Recently our group published the cohort analysis of aHUS in Japan (n=118). Through the study, we revealed the followings; 1) the genetic background of aHUS in Japan was different from that in Western countries, 2) the most frequent genetic mutation detected in this study was I1157T in C3 (n=24), which was associated with superior renal outcome in spite of frequent replases, 3) Anti-CFH antibody positive aHUS had an excellent renal outcome, 4) 44% cases presented nephrotic syndrome, 5) only 12 % developed end stage renal disease (ESRD) and 6) there were 13 cases that discontinued eculizumab treatment and were followed up. These findings might help establishing the robust evidence for the optimal treatment of aHUS.

DOI: 10.29245/2572-9411/2018/3.1156 View / Download Pdf
Vol 3-3 Mini Review

Chemoradiotherapy Versus Chemotherapy for Localized Gastric Cancer: A Mini Review

Daniel da Motta Girardi1*, Gabriela Oliveira Mendes2

1Department of Oncology, Hospital Sírio Libanês, Brazil

2Hospital de Base do Distrito Federal, Brasília, Brazil

Curative treatment for localized gastric cancer involves a multidisciplinary approach that includes surgery and chemotherapy with or without radiotherapy. In the past decades several studies have shown survival benefit of postoperative and perioperative treatments in comparison with surgery alone. Only a few trials have compared directly chemotherapy with chemoradiotherapy without a clear benefit favoring one strategy over another. In the absence of a standard approach, the choice of the best treatment is individualized and varies by geographic region and the preference of the institution where the patient is being treated. This review summarizes what is new in the treatment of localized gastric cancer and seeks to deeply analyze chemotherapy and chemoradiotherapy strategies.

DOI: 10.29245/2572-9411/2018/3.1159 View / Download Pdf
Vol 3-3 Mini Review

Potential Pithfalls in Using HPLC and its Interpretation in Diagnosing HbS

Dr. Sona B. Nair*

Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India

DOI: 10.29245/2572-9411/2018/3.1161 View / Download Pdf
Vol 3-3 Review

Cardiac Complications in Patients with Propionic Acidemia

Moises Rodriguez-Gonzalez1*, Alvaro Antonio Perez-Reviriego2, Ana Castellano-Martinez2, Helena Maria Cascales-Poyatos2

1Pediatric Cardiology Department, Puerta del Mar Universitary Hospital, Cadiz, Spain

2Pediatrics Department, Puerta del Mar Universitary Hospital, Cadiz, Spain

Propionic acidemia, is an autosomal recessive disorder due to the deficiency of the enzyme propionyl?coenzyme A carboxylase, which is a critical component for the metabolism of certain amino acids and lipids. The clinical complications are varied and may present at any time in the patient's life, mainly the neurological symptoms. Outside the central nerve system, haematological abnormalities including anaemia, neutropenia, thrombocytopenia or pancytopenia, immune defects, osteoporosis and pancreatitis are other rare complications reported. Of note, cardiac diseases have been recognized as increasing and life-threatening manifestations, including cardiomyopathy and electrophysiological changes such as prolongation of the QT interval.

The possible mechanisms of propionic acidemia?associated cardiac disorder, and the importance of appropriate management and early recognition, are discussed.

DOI: 10.29245/2572-9411/2018/3.1162 View / Download Pdf