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Minami-rinkan, Japan

Background: Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in KCNJ5 have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes (G151R, T158A, I157S, and Y152C), (1) FH-III patients with G151E have shown milder phenotype, and (2) G151E-harboring cells were found to have rapid lethality due to much larger sodium conductance of the encoded channel (Kir3.4), which prevents adrenal hypertrophy. Methods: Here we describe the clinical course of a sporadic case of FH-III, with de novo G151R mutation. Results: The patient developed polyuria at around 1.5 years of age and developed hypertension and hypokalemia by 4 years of age. Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 years with no discernible adrenal enlargement. Conclusion: Diverse clinical severity in FH-III cannot be defined solely by KCNJ5 genotype. © 2014 S. Karger AG, Basel. Source


Kurihara K.,Kanagawa Childrens Medical Center
Allergology International | Year: 2010

Although the current standard care for patients with food allergy is based on avoidance of the trigger foods with hope of possible gain of tolerance, increasing number of studies have shown that oral immunotherapy is a promising approach. Understanding the transcutaneous sensitization and oral immune tolerance to food antigens has shifted focus of treatment and prevention. However, more studies are warranted to elucidate the underlying mechanisms and to clarify the indication criteria to which type of patients this therapy should be applied. Easy and uncontrolled use of elimination diets for atopic dermatitis might have increased and exacerbated food allergy, and thorough innovation of our whole concept for food allergy is now required. ©2010 Japanese Society of Allergology. Source


Yokose M.,Yokohama City University | Mihara T.,Kanagawa Childrens Medical Center | Sugawara Y.,Yokohama City University | Goto T.,Yokohama City University
Anaesthesia | Year: 2015

Spinal anaesthesia for caesarean section induces hypotension, which may cause severe adverse effects. Our goal was to determine whether hypotension could be predicted by pulse oximetry parameters, such as the perfusion index and pleth variability index, heart rate, ratio of low-frequency to high-frequency components of heart rate variability, and entropy of heart rate variability, measured before the induction of anaesthesia. The predictive value of these parameters for detecting hypotension was assessed using logistic regression and the grey zone approach in 81 parturients. Logistic regression revealed heart rate to be the only independent predictor (OR 1.06; 95% CI 1.01-1.13; p = 0.032). The grey zone for heart rate was in the range of 71-89 bpm, and 60.5% of parturients were in the grey zone. Pre-anaesthetic heart rate, but not other parameters derived from pulse oximetry or heart rate variability, may be a prognostic factor for hypotension associated with spinal anaesthesia. © 2015 The Association of Anaesthetists of Great Britain and Ireland. Source


Arai M.,Seirei Mikatahara General Hospital | Osaka H.,Kanagawa Childrens Medical Center
Epilepsia | Year: 2011

A 19-year-old university student with no personal or family history of neurologic disorders developed convulsions and was administered phenytoin. Two months later, he developed lower limb-dominant acute demyelinating polyneuropathy, from which he recovered within 2 months. At age 20, he rapidly developed visual disturbances and paraplegia from phenytoin intoxication. Cranial magnetic resonance imaging (MRI) revealed leukoencephalopathy with no evidence of thrombosis or vasoconstriction. Hyperhomocysteinemia, hypomethioninemia, low serum folate concentration, and an absence of megaloblastic anemia were consistent with the diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency. A genomic DNA sequence analysis demonstrated compound heterozygosity for two missense mutations in the MTHFR gene, namely, [458G>T + 459C>T] (Gly149Val) and 358G>A (Ala116Thr), both of which are known pathogenic mutations. An absence of leukoencephalopathic changes on MRI scans performed 9 months previously strongly suggested that phenytoin intoxication caused acute leukoencephalopathy. Therefore, phenytoin may be an aggravating factor of remethylation defects in patients with MTHFR deficiency. © 2011 International League Against Epilepsy. Source


Asou T.,Kanagawa Childrens Medical Center
General Thoracic and Cardiovascular Surgery | Year: 2011

Despite recent advances in diagnosis, surgical techniques, and postoperative care of children with congenital cardiac defects, muscular trabecular ventricular septal defects (VSDs) are still a therapeutic challenge. Among these defects, it is more difficult to achieve secure and complete closure of low trabecular or apical VSDs because of the presence of numerous muscular trabeculations overlying the defect. When they are associated with "Swiss cheese"-type of VSDs, it is almost impossible to visualize the true edges of the defect through the transatrial approach. Consequently, there remains an unacceptable incidence of mortality and morbidity when compared to those that occur with closure of the usual perimembranous VSD. Although various techniques for closure of these difficult trabecular VSDs have been attempted, there is still a significant incidence of complications in the surgical management of trabecular VSDs, mostly significant residual shunts, a need for multiple reoperations, and severe left ventricular dysfunction. This article describes the anatomical details and classification of muscular trabecular VSDs. It also reviews several techniques currently utilized and their outcomes. © 2011 The Japanese Association for Thoracic Surgery. Source

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