ABSTRACT
Incomplete Kawasaki disease (iKD), which does not satisfy the standard KD diagnostic criteria because the required number of principal symptoms is not met, sometimes causes coronary aneurysms. Here we report the case of a patient with iKD who presented with only one principal symptom that resulted in the development of coronary aneurysm, as evidenced by angiography.
Subject(s)
Coronary Aneurysm/etiology , Coronary Vessels/diagnostic imaging , Fever/complications , Mucocutaneous Lymph Node Syndrome/complications , Asymptomatic Diseases , Coronary Aneurysm/diagnosis , Coronary Angiography , Diagnosis, Differential , Echocardiography , Humans , Infant , MaleABSTRACT
A heterozygous mutation in the fibroblast growth factor 12 (FGF12) gene, which elevates the voltage dependence of neuronal sodium channel fast inactivation, was recently identified in some patients with epileptic encephalopathy. Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). These 2 patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. This mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy. One of our cases exhibited EIMFS, and this case responded to phenytoin and high-dose phenobarbital (PB). FGF12-related epileptic encephalopathy may exhibit diverse phenotypes and may respond to sodium channel blockers or high-dose PB.
Subject(s)
Epilepsies, Partial/genetics , Fibroblast Growth Factors/genetics , Mutation, Missense , Spasms, Infantile/genetics , Adult , Brain/diagnostic imaging , Brain/physiopathology , Epilepsies, Partial/diagnostic imaging , Epilepsies, Partial/drug therapy , Epilepsies, Partial/physiopathology , Humans , Infant , Male , Phenotype , Spasms, Infantile/diagnostic imaging , Spasms, Infantile/drug therapy , Spasms, Infantile/physiopathologyABSTRACT
BACKGROUND: Acute encephalopathy has the possibility of sequelae. While early treatment is required to prevent the development of sequelae, differential diagnosis is of the utmost priority. The aim of this study was therefore to identify parameters that can facilitate early diagnosis and prediction of outcome of acute encephalopathy. METHODS: We reviewed the medical charts of inpatients from 2005 to 2011 and identified 33 patients with febrile status epilepticus. Subjects were classified into an acute encephalopathy group (n = 20) and a febrile convulsion group (n = 13), and the parameters serum aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), ammonia (NH3 ), cerebrospinal fluid (CSF) tau protein, and CSF interleukin-6 compared between them. Furthermore, the relationship between each parameter and prognosis was investigated in the encephalopathy group. RESULTS: Significant differences in serum AST, ALT, and LDH were observed between the febrile convulsion and acute encephalopathy group. Moreover, a significant difference in serum LDH was noted between the patients with and without developmental regression at the time of hospital discharge in the encephalopathy group. In particular, CSF tau protein was found to be highly likely to indicate progress, with CSF tau protein >1000 pg/dL associated with poor prognosis leading to developmental regression. CONCLUSION: Serum AST, ALT and LDH may be related to early diagnosis and prognosis, and should be carefully investigated in patients with encephalopathy. CSF tau protein could also be used as an indicator of poor prognosis in acute encephalopathy.
Subject(s)
Brain Diseases/diagnosis , Seizures, Febrile/diagnosis , Acute Disease , Alanine Transaminase/blood , Aspartate Aminotransferases/blood , Biomarkers/blood , Biomarkers/cerebrospinal fluid , Brain Diseases/blood , Brain Diseases/cerebrospinal fluid , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Interleukin-6/cerebrospinal fluid , Male , Prognosis , Retrospective Studies , Risk Factors , Seizures, Febrile/blood , Seizures, Febrile/cerebrospinal fluid , tau Proteins/cerebrospinal fluidABSTRACT
As Japan has been confronting rapid aging of the population, the government is promoting home medical care, with reforming medical service policy, offering subsidies, and revising payment system of medical service. Hereafter, home medical care will play an important role in order to build the integrated community care system by cooperating with long-term care services. More physicians, not only of specialized clinics, but also of general ones, are expected to visit home to provide medical service to their own immobile patients.
Subject(s)
Health Services Needs and Demand/trends , Home Care Services , Quality of Health Care , Aged , Aged, 80 and over , Fee-for-Service Plans , Health Services Needs and Demand/statistics & numerical data , Health Systems Plans/trends , Home Care Services/economics , Home Care Services/statistics & numerical data , Home Care Services/trends , Humans , Japan/epidemiology , Patient Care Team , Quality of Health Care/trendsABSTRACT
We investigated lipid composition and FA metabolism in Chinese hamster ovary CHO-K1) cells and Pex5-mutated CHO-K1 (ZP102) cells to clarify the biochemical bases of peroxisome biogenesis disorders (PBD). ZP102 cells have defective peroxisomes and exhibit impairments of peroxisomal beta-oxidation of FA and plasmalogen biosynthesis. In addition, we identified FA metabolic alterations in the synthesis of several classes of lipids in ZP102 cells. The concentration of FFA in ZP102 cells was twice that in CHO-K1 cells, but methyl esters and TAG were decreased in ZP102 cells in comparison with control cells. Also, ceramide monohexoside (CMH) concentration with ZP102 cells was significantly increased compared with the control cells. The FA molecular species, particularly the saturated to unsaturated ratios, of individual lipids also differed between the two cell types. The rate of incorporation of [14C]-labeled saturated acids into sphingomyelin (SM) and CMH in ZP102 cells was higher than that in CHO-K1 cells. Lignoceric acid incorporated into cells was predominantly utilized for the synthesis of SM at 24 h after removal of [14C]lignoceric acid from the culture medium. ZP102 cells showed higher fluorescence anisotropy of 1,3,5-diphenylhexatriene, corresponding to lower membrane mobility than in CHO-K1 cells. In particular, alteration of lipid metabolism by a Pex5 mutation enhanced metabolism of saturated FA and sphingolipids. This may be related to the reduced membrane fluidity of ZP102 cells, which has been implicated in the dysfunction of membrane-linked processes in PBD.
Subject(s)
Fatty Acids/metabolism , Membrane Fluidity , Peroxisomes/genetics , Animals , CHO Cells , Carbon Isotopes , Cricetinae , Cricetulus , Lipid Metabolism , Mutation , Peroxisomes/metabolismABSTRACT
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33. Recently, a missense mutation in the gene for the kinesin superfamily KIF1B was reported as the cause of Charcot Marie Tooth disease type 2A (CMT2A). We suspected that Rab6KIFL, one of the kinesin superfamily proteins, might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene is located in 5q31. The coding regions of the Rab6KIFL gene of genomic DNA derived from one Algerian family with CMT4C were analyzed by direct sequencing. No mutation in Rab6KIFL gene was found in this family. Further investigation is necessary to identify the causative gene for CMT4C.
