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 Read More
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 Read More
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 Read More
Vol 3-4 Review

Frequency Analysis for The Effect of Pico Tesla-Transcranial Magnetic Stimulation in Epilepsy Patients Using Magnetoencephalography

Photios Anninos1*, Athanasia Kotini1, Adam Adamopoulos1, Nicolaos Tsagas2

1Labratory of Medical Physics, Department of Medicine, School of Health Sciences, Alexandroupoli, Greece

2Department of Electrical Engineering, Polytechnic School, Democritus University of Thrace, Xanthi, Greece

The purpose of this research is to identify any change in the frequencies of 2-7Hz in the brain state of epilepsy patients after pico-Tesla transcranial magnetic stimulation (pT-TMS). It is a noninvasive technique for treating neurological disorders. We used magneto encephalographic (MEG) recordings of 10 epilepsy patients with a whole-head 122 - channel MEG system in a magnetically shielded room of low magnetic noise. The subjects were 5 male and 5 female epilepsy volunteers between 18-42 years of age. Afterwards, external pT-TMS was applied to the above patients. A software program was developed in our lab in order to detect the primary dominant frequency of the power spectra of the MEG obtained from every patient and channel before and after the application of pT-TMS. We found that 7 out of 10 patients (70%) had increased their 2-7Hz frequencies after the application of pT-TMS. We concluded that frequency analysis is a promising means for the assessment of epilepsy disorders.

DOI: 10.29245/2572-9411/2018/4.1164 Read More
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 Read More
Vol 3-4 Commentary

Commentary: Loin Pain Hematuria Syndrome

Natalie M. Bath1*, Daniel H. Williams2, Hans W. Sollinger1, Robert R. Redfield III1

1 Division of Transplant Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

2 Department of Urology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Loin Pain Hematuria Syndrome (LPHS) remains a rare disease but has a significant impact on those affected by it. Patients diagnosed with LPHS experience severe, constant or intermittent flank pain that radiates to the groin and may be exacerbated even by a gentle touch. These patients often require significant narcotic regimens for pain control and are unable to maintain a functional lifestyle. Previously, diagnosis has been made based on clinical presentation. One treatment for this syndrome is renal autotransplant; however, success rates are varied. Therefore, patient selection for this procedure is important. We have developed the UW-LPHS test as a diagnostic maneuver in order to determine which patients with LPHS would benefit from renal autotransplant. To perform this diagnostic test, bupivacaine is instilled into the ureter on the affected side and left to dwell. Patients who experience pain relief following this test are deemed to benefit from renal autotransplant. Here we describe this novel diagnostic test and initial success rates following renal autotransplant.

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