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1.
J Synchrotron Radiat ; 31(Pt 3): 540-546, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38619289

ABSTRACT

The soft X-ray photoelectron momentum microscopy (PMM) experimental station at the UVSOR Synchrotron Facility has been recently upgraded by additionally guiding vacuum ultraviolet (VUV) light in a normal-incidence configuration. PMM offers a very powerful tool for comprehensive electronic structure analyses in real and momentum spaces. In this work, a VUV beam with variable polarization in the normal-incidence geometry was obtained at the same sample position as the soft X-ray beam from BL6U by branching the VUV beamline BL7U. The valence electronic structure of the Au(111) surface was measured using horizontal and vertical linearly polarized (s-polarized) light excitations from BL7U in addition to horizontal linearly polarized (p-polarized) light excitations from BL6U. Such highly symmetric photoemission geometry with normal incidence offers direct access to atomic orbital information via photon polarization-dependent transition-matrix-element analysis.

2.
Phys Chem Chem Phys ; 24(2): 634-638, 2022 Jan 04.
Article in English | MEDLINE | ID: mdl-34908057

ABSTRACT

Valence band dispersions of single-crystalline SnS1-xSex solid solutions were observed by angle-resolved photoemission spectroscopy (ARPES). The hole effective masses, crucial factors in determining thermoelectric properties, were directly evaluated. They decrease slightly with increasing Se content in the low Se composition range but sharply in the high Se composition range.

3.
J Exerc Sci Fit ; 19(1): 51-56, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33224205

ABSTRACT

BACKGROUND: We aimed to evaluate the effect of moderate-intensity seated exercise on metabolic outcomes in hypertensive individuals with or without exercise habits. METHODS: Forty-two hypertensive individuals volunteered for this study and were classified into 3 groups by their habits and place for moderate-intensity exercise prior to this study: NONE (<2 days/week or no exercise; n = 13), HOME (≥30 min/day and ≥2 days/week at home; n = 15), and GYM (≥30 min/day and ≥2 days/week at a hospital gym; n = 14). They performed their daily activities as usual and seated exercise (stepping and stepping with trunk rotation; a range of 11-13 on the Borg rating of perceived exertion scale) for at least 15 min/day and at least 3 days/week for 12 weeks. RESULTS: Thirty-five participants (age: 67.7 ± 5.9 years) completed the study, and there was no difference among the 3 groups regarding weekly exercise. The homeostasis model assessment of insulin resistance (HOMA-IR) value in the NONE group was significantly higher than that in the GYM group at baseline (p < 0.05), but it decreased significantly after 12 weeks (from 2.2 ± 0.8 to 1.7 ± 0.7, p < 0.05). Changes in HOMA-IR in the NONE group after 12 weeks was greater than that in the HOME and GYM groups (both p < 0.01). The HOME and GYM groups showed no significant changes in any of the variables. CONCLUSION: Moderate-intensity seated exercise may be an effective strategy to improve insulin resistance in hypertensive individuals without exercise habits.

4.
Lipids Health Dis ; 17(1): 180, 2018 Jul 28.
Article in English | MEDLINE | ID: mdl-30055622

ABSTRACT

BACKGROUND: Lecithin:cholesterol acyltransferase (LCAT) plays an important role in cholesterol esterification in serum. Serum LCAT activity is elevated in patients with serum high triglyceride and low high-density lipoprotein-cholesterol (HDL-C) concentrations, both of which are related to metabolic syndrome and subsequent diabetes mellitus, referred to as lipotoxicity. We hypothesized that increased serum LCAT activity could predict future risk of diabetes mellitus in a general Japanese population. METHODS: We prospectively studied 1496 individuals aged 20-86 years without histories of diabetes mellitus at baseline. Serum lipid concentrations, glucose parameters, and LCAT activity measured as the serum cholesterol esterification rate, were evaluated. RESULTS: During 11 years of follow-up, 46 newly diagnosed patients with diabetes mellitus were reported. After adjustment for plasma glycosylated hemoglobin A1c (HbA1c) levels, the relative risks (RRs) for the development of diabetes mellitus were 5.45 [95% confidence interval (95% CI) 2.37-12.55; P <  0.001] for body-mass index, 0.22 (95% CI, 0.09-0.53; P = 0.001) for HDL-C, 4.81 (95% CI, 1.96-11.77; P = 0.001) for triglyceride, and 4.64 (95% CI, 1.89-11.41; P = 0.001) for LCAT activity. After adjustment for HbA1c, total cholesterol, triglyceride, HDL-C, phospholipid, and free fatty acid levels, the RR of LCAT activity for future risk of diabetes mellitus remained significant (RR, 4.93; 95% CI,1.32-18.41; P = 0.018). In this analysis, we found a significant association between LCAT activity and risk of diabetes mellitus in men but not in women. CONCLUSION: Increased serum cholesterol esterification rate is a potent predictor for future diabetes mellitus.


Subject(s)
Diabetes Mellitus, Type 2/diagnosis , Genetic Predisposition to Disease , Hypercholesterolemia/diagnosis , Phosphatidylcholine-Sterol O-Acyltransferase/blood , Adult , Aged , Biomarkers/blood , Blood Glucose/metabolism , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/genetics , Esterification , Fatty Acids, Nonesterified/blood , Female , Glycated Hemoglobin/genetics , Glycated Hemoglobin/metabolism , Humans , Hypercholesterolemia/blood , Hypercholesterolemia/genetics , Lipid Metabolism , Male , Middle Aged , Odds Ratio , Phosphatidylcholine-Sterol O-Acyltransferase/genetics , Prognosis , Prospective Studies , Risk , Sex Factors , Triglycerides/blood
5.
J Phys Ther Sci ; 29(1): 75-78, 2017 Jan.
Article in English | MEDLINE | ID: mdl-28210043

ABSTRACT

[Purpose] The purpose of this study was to examine the hypoglycemic effect of a postprandial exercise program using brief stair climbing-descending exercise in people with type 2 diabetes. [Subjects and Methods] Seven males with uncomplicated type 2 diabetes (age 68.0 ± 3.7 years) performed two sets of stair climbing-descending exercise 60 and 120 min after each meal for the first 2 weeks but not for the following 2 weeks. Each set of exercise comprised 3-min of continuous repetition of climbing briskly to the second floor followed by slow waking down to the first floor in their home. A rest period of 1-2 min was allowed between each set. [Results] Serum 1,5-anhydroglucitol level was significantly higher by 11.5% at the end of the 2-week exercise period than at the baseline. By contrast, the 1,5-anhydroglucitol level at the end of the following 2-week period did not differ from the baseline value. Fasting blood glucose level and insulin resistance index at the end of the exercise period did not differ from the baseline value. [Conclusion] Repeated 3-min bouts of stair climbing-descending exercise after a meal may be a promising method for improving postprandial glycemic control in people with type 2 diabetes.

6.
J Pediatr Hematol Oncol ; 38(5): e162-5, 2016 07.
Article in English | MEDLINE | ID: mdl-27123664

ABSTRACT

BACKGROUND: Pulmonary nodules associated with Epstein-Barr virus (EBV)-related atypical infectious mononucleosis have rarely been described. OBSERVATIONS: A 12-year-old Japanese boy, upon admission, revealed multiple small round nodules (a total of 7 nodules in 4 to 8 mm size) in the lungs on computed tomography. The hemorrhagic pharyngeal tonsils with hot signals on 18F-fluorodeoxyglucose-positron emission tomography-computed tomography were biopsied revealing the presence of EBV-encoded small nuclear RNA (EBER)-positive cells; however, no lymphoma was noted. The patient was diagnosed as having atypical EBV-infectious mononucleosis associated with primary EBV infection. Pulmonary nodules markedly reduced in numbers and sizes spontaneously over a 2-year period. CONCLUSIONS: Differential diagnosis of pulmonary nodules in childhood should include atypical EBV infection.


Subject(s)
Epstein-Barr Virus Infections/diagnosis , Infectious Mononucleosis/diagnosis , Multiple Pulmonary Nodules/diagnosis , Biopsy , Child , Diagnosis, Differential , Herpesvirus 4, Human/genetics , Humans , Male , Positron-Emission Tomography , RNA, Viral/analysis , Tomography, X-Ray Computed
7.
Pediatr Int ; 57(5): 977-81, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26387855

ABSTRACT

We report here a sporadic case of Epstein syndrome, one of the MYH9 disorders. A Japanese boy was first noted to have thrombocytopenia at 3 years of age. Blood smear showed giant platelets but no Döhle-like bodies in the neutrophils. He had no family history of thrombocytopenia, hearing loss, and/or renal failure. Thrombocytopenia took a chronic course and platelet count fluctuated in the range 18 000-46 000/µL, not responding to i.v. immunoglobulin or prednisolone treatment. The patient had episodes of gross nasal bleeding at 7 and 18 years of age. Mild hearing loss was suspected at 6, and proteinuria was first noted at 14 years of age. At the development of renal failure at 24 years of age, he was identified to have de novo R702H MYH9 mutation. This case illustrates the importance of suspecting MYH9 disorder even in cases of chronic macrothrombocytopenia without family history.


Subject(s)
Hearing Loss, Sensorineural/etiology , Renal Insufficiency/etiology , Thrombocytopenia/congenital , Child, Preschool , DNA/genetics , DNA Mutational Analysis , Hearing Loss, Sensorineural/complications , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Humans , Male , Molecular Motor Proteins/genetics , Molecular Motor Proteins/metabolism , Mutation , Myosin Heavy Chains/genetics , Myosin Heavy Chains/metabolism , Renal Insufficiency/diagnosis , Renal Insufficiency/metabolism , Thrombocytopenia/complications , Thrombocytopenia/diagnosis , Thrombocytopenia/genetics
8.
Arterioscler Thromb Vasc Biol ; 33(5): 1098-104, 2013 May.
Article in English | MEDLINE | ID: mdl-23430610

ABSTRACT

OBJECTIVE: Lecithin:cholesterol acyltransferase (LCAT) is thought to be important in reverse cholesterol transport. However, its association with coronary heart disease (CHD) and sudden death is controversial. APPROACH AND RESULTS: We prospectively studied 1927 individuals from the general population. Serum concentrations of apolipoprotein A-I, A-II, B, C-II, C-III, E, and LCAT activity measured as a serum cholesterol esterification rate were evaluated. We documented 61 events of CHD and sudden death during 10.9 years of follow-up. After adjustment for age and sex, LCAT activity was significantly associated with the risk of CHD and sudden death (hazard ratio, 3.02; 95% confidence interval, 1.49-6.12; P=0.002). In multivariate analysis adjusted for age, sex, current smoking status, history of diabetes mellitus, body mass index, systolic blood pressure, serum total cholesterol, and serum high-density lipoprotein cholesterol concentrations, the hazard ratio of LCAT activity for the risk of CHD and sudden death remained significant (hazard ratio, 3.07; 95% confidence interval, 1.35-7.01; P=0.008). However, when it was analyzed for men and women separately, this association remained significant only in women. CONCLUSIONS: Increased LCAT activity measured as a serum cholesterol esterification rate was a risk for CHD and sudden death in a Japanese general population.


Subject(s)
Cholesterol Esters/blood , Coronary Disease/etiology , Death, Sudden/etiology , Adult , Aged , Coronary Disease/blood , Female , Humans , Male , Middle Aged , Phosphatidylcholine-Sterol O-Acyltransferase/metabolism , Prospective Studies , Sex Characteristics
9.
Rev Sci Instrum ; 94(8)2023 Aug 01.
Article in English | MEDLINE | ID: mdl-38065145

ABSTRACT

The photoelectron momentum microscope (PMM) in operation at BL6U, an undulator-based soft x-ray beamline at the UVSOR Synchrotron Facility, offers a new approach for µm-scale momentum-resolved photoelectron spectroscopy (MRPES). A key feature of the PMM is that it can very effectively reduce radiation-induced damage by directly projecting a single photoelectron constant energy contour in reciprocal space with a radius of a few Å-1 or real space with a radius of a few 100 µm onto a two-dimensional detector. This approach was applied to three-dimensional valence band structure E(k) and E(r) measurements ("stereography") as functions of photon energy (hν), its polarization (e), detection position (r), and temperature (T). In this study, we described some examples of possible measurement techniques using a soft x-ray PMM. We successfully applied this stereography technique to µm-scale MRPES to selectively visualize the single-domain band structure of twinned face-centered-cubic Ir thin films grown on Al2O3(0001) substrates. The photon energy dependence of the photoelectron intensity on the Au(111) surface state was measured in detail within the bulk Fermi surface. By changing the temperature of 1T-TaS2, we clarified the variations in the valence band dispersion associated with chiral charge-density-wave phase transitions. Finally, PMMs for valence band stereography with various electron analyzers were compared, and the advantages of each were discussed.

10.
PLoS One ; 17(3): e0265637, 2022.
Article in English | MEDLINE | ID: mdl-35333903

ABSTRACT

BACKGROUND: Recent studies have suggested that chronic kidney disease is associated with cardiovascular disease, dementia, and frailty, all of which cause disability and early death. We investigated whether increased activity of urinary N-acetyl-ß-glucosaminidase (NAG), a marker of kidney injury, is associated with risk of disability or all-cause mortality in a general population. METHODS: Follow-up data from the Hidaka Cohort Study, a population-based cohort study of members of a Japanese rural community, were obtained via questionnaires completed by participants or their relatives. Multivariable analyses were used to investigate relations between urinary NAG activity-urinary creatinine concentration ratio and risk of disability or all-cause mortality. RESULTS: A total of 1182 participants were followed up for a median of 12.4 years. The endpoints were receipt of support under the public long-term care insurance program, and all-cause mortality. A total of 122 participants (10.3%) were reported to be receiving long-term care and 230 (19.5%) had died. After adjustment for cardiovascular risk factors along with physical activity, and using the quartile 1 results as a reference, the odds ratio (OR) for disability was 2.12 [95% confidence interval (95% confidence interval [CI]), 1.04-4.33; p = 0.038) and the hazard ratio (HR) for all-cause mortality was 1.65 (95% CI, 1.05-2.62; p = 0.031) in participants with urinary NAG/creatinine ratio in quartile 4. Similar results were obtained in participants without proteinuria: OR for disability, 2.46 (95% CI, 1.18-5.16; p = 0.017); and HR for all-cause mortality, 1.62 (95% CI, 1.00-2.63; p = 0.049). CONCLUSIONS: Increased urinary NAG/creatinine ratio was associated with risk of disability or all-cause mortality in a general population.


Subject(s)
Acetylglucosaminidase , Azotemia , Acetylglucosaminidase/urine , Biomarkers/urine , Cohort Studies , Creatinine/urine , Female , Humans , Kidney , Male
11.
Endocrinol Diabetes Metab ; 4(1): e00168, 2021 01.
Article in English | MEDLINE | ID: mdl-33532610

ABSTRACT

Introduction: Endothelium-dependent flow-mediated dilation (FMD) of the brachial artery often changes seasonally. We aimed to examine the association between the seasonal variation on FMD and regular exercise in adults with type 2 diabetes (T2D) and nondiabetic adults with hypertension and/or dyslipidaemia (non-T2D). Methods: This retrospective study included 14 T2D and 17 non-T2D adults, who started to perform moderate-intensity aerobic exercise for 30-40 min/d at a hospital gym in 2006-2010 and maintained exercise performance at least 2 d/wk until the end of the observation period. We observed and analysed the data for 5 years (from March 2011 to February 2016). FMD, cardio-ankle vascular index (CAVI) and metabolic outcomes were compared among seasons in the T2D and non-T2D groups. Results: The FMD values were lower in winter than in other seasons in both groups (all P < .01). The annual range of FMD was larger by 31% in the T2D group than in the non-T2D group (P < .05). The systolic blood pressure (BP) values were higher in winter than in other seasons in both groups (all P < .01), and the diastolic BP values were higher in winter than in summer in both groups (T2D: P < .05; non-T2D: P < .01). CAVI and other outcomes did not change seasonally. Conclusions: Flow-mediated vasodilation showed seasonal variation in T2D adults, even if they performed exercise regularly for a long period of time. Additionally, we found that the annual range of FMD might increase with the presence of T2D.


Subject(s)
Brachial Artery/physiopathology , Diabetes Mellitus, Type 2/physiopathology , Dyslipidemias/physiopathology , Endothelium, Vascular/physiopathology , Exercise/physiology , Hypertension/physiopathology , Seasons , Vasodilation , Aged , Diabetes Mellitus, Type 2/metabolism , Dyslipidemias/metabolism , Female , Humans , Hypertension/metabolism , Male , Middle Aged , Retrospective Studies , Time Factors
12.
BMJ Open Sport Exerc Med ; 6(1): e000866, 2020.
Article in English | MEDLINE | ID: mdl-33088588

ABSTRACT

OBJECTIVES: This study aimed to examine whether maintaining supervised gym- and home-based exercises for an extended time of period could decrease seasonal variations of metabolic outcomes in overweight and obese Japanese adults. METHODS: This retrospective study recruited 54 overweight and obese outpatients who started exercising in 2006-2010 and analysed their metabolic outcomes for 5 years from March 2011 to February 2016. In this group, 26 participants performed moderate-intensity aerobic exercise (MIAE) for 30-40 min/day for at least 2 days/week, supervised by physical therapists at a hospital gym (GYM) during the observation period. Conversely, 28 participants were asked to perform MIAE by themselves at or around their homes (HOME) for the same duration. RESULTS: The body mass index (BMI), waist circumference and homoeostasis model assessment of insulin resistance (HOMA-IR) values in winter were higher than those in other seasons in the HOME group but not in the GYM group. The annual ranges of BMI, waist circumference, fasting plasma glucose and HOMA-IR in the GYM group were smaller than those in the HOME group. CONCLUSION: Maintaining supervised gym-based exercise, as opposed to home-based exercise, may decrease seasonal variations of some metabolic outcomes in overweight and obese Japanese adults.

13.
Healthcare (Basel) ; 8(2)2020 Apr 22.
Article in English | MEDLINE | ID: mdl-32331210

ABSTRACT

This cross-sectional study aimed to examine the associations among self-reported sitting time (ST), transtheoretical model (TTM) based on exercise behavior change, and glycemic and weight control in Japanese adults with type 1 diabetes (T1D). Forty-two adults (age, 44.0 (33.3-56.8) years) with uncomplicated T1D answered questions regarding their lifestyles, including ST per day, and TTM using self-administered questionnaires. The glycated hemoglobin (HbA1c) level correlated with age and ST (p < 0.05, p < 0.01, respectively), whereas body mass index correlated with duration of T1D and TTM (p < 0.05, p < 0.01, respectively). Logistic regression analysis showed that poor glycemic control (HbA1c, >7%) was associated with ST (odds ratio, 3.53 (95% confidence interval, 1.54-8.11), p < 0.01). In addition, the cut-off points for quartiles of ST were 4.6, 6.0, and 8.0 h/day, and the HbA1c level in the lowest quartile was 15% lower than that in the highest quartile (p < 0.01). Although further studies with larger samples are needed, these results implied that expanded self-reported ST might be related to poor glycemic control in Japanese T1D adults, most of whom were lean, young and middle-aged, regardless of TTM based on exercise behavior change.

14.
Pediatr Rep ; 10(1): 7424, 2018 Mar 22.
Article in English | MEDLINE | ID: mdl-29721246

ABSTRACT

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops in association with systemic as well as central nervous system (CNS) viral or bacterial infections. AESD is most often noted with influenza or human herpesvirus 6 infection in previously healthy infants. However, AESD has also been reported in an infant with developmental retardation and in a mentally and motor-disabled adolescent. Here, we report the case of a 4- year-old female with significant development delay due to spinal muscular atrophy, who developed AESD during Streptococcus sanguinis sepsis with no apparent CNS infection. Although the patient had extremely high serum procalcitonin (45.84 ng/mL, reference; <0.4) on admission indicating a poor prognosis, she was successfully managed for sepsis and AESD.

15.
Pediatr Rep ; 8(3): 6615, 2016 Sep 19.
Article in English | MEDLINE | ID: mdl-27777703

ABSTRACT

Identical twin brothers developed mild encephalopathy at the age of 7.0 and 9.7 years (Patient 1) and 10.7 years (Patient 2). Patient 1 had influenza A at the time of his second episode, but triggering agents were not evident at the first episode. The triggering agents in Patient 2 were unclear. The neurological features of both patients included transient facial numbness, left arm paresis, dysarthria, and gait disturbance. Diffusion-weighted images from magnetic resonance imaging showed high signal levels at the splenium of corpus callosum and in the bilateral cerebral deep white matter. These results are characteristic of mild encephalitis/encephalopathy with a reversible isolated splenium of corpus callosum lesion. All three episodes were treated with a methylprednisolone pulse. Acyclovir was also administered to Patient 2 and to Patient 1 during his first episode. Patient 1 received an anti-influenza agent and intravenous immunoglobulin during his second episode. Both patients recovered completely without sequelae. Genetic factors, which may predispose identical twins to develop encephalopathy, are discussed.

16.
BMJ Open Diabetes Res Care ; 4(1): e000232, 2016.
Article in English | MEDLINE | ID: mdl-27547414

ABSTRACT

OBJECTIVE: We examined whether stair climbing-descending exercise (ST-EX), a convenient method to increase physical activity in daily life, for a short period would acutely improve the postprandial blood glucose (BG) response in people with type 2 diabetes (T2D). METHODS: 16 people with T2D (age 65.4±1.1 years) participated in 2 separate sessions. After an overnight fast, each participant consumed a test meal and then kept resting for 180 min, except when performing each 3 min bout of ST-EX at 60 and 120 min after the meal (ST-EX session), or kept resting for 180 min (REST session). ST-EX comprised 6 continuous repetitions of climbing to the second floor (21 steps) at a rate of 80-110 steps/min followed by walking down slowly to the first floor at a free step rate. RESULTS: The BG at 60 min after the meal during the ST-EX session (immediately before the first ST-EX) did not differ from that during the REST session, but analysis of variance revealed a significant interaction between time and treatment (p<0.01). The BG at 150 min after the meal (30 min after the second ST-EX) was significantly lower than that during the REST session (p<0.01). The area under the curve was also 18% lower during the ST-EX session than during the REST session (p<0.05). The heart rate and blood lactate levels indicated that the actual intensity of ST-EX was 'hard'. In contrast, the rating of perceived exertion (RPE) indicated that the overall intensity of ST-EX was 'moderate' because of decreased RPE scores during descent. CONCLUSIONS: The present findings suggest that performing 3 min ST-EX 60 and 120 min after a meal may be a useful strategy to accelerate the decrease in postprandial BG levels in people with T2D.

17.
Pediatr Rep ; 7(2): 5858, 2015 May 25.
Article in English | MEDLINE | ID: mdl-26266031

ABSTRACT

Sweet's syndrome, characterized by fever and a painful erythematous rash with a dermal neutrophilic infiltrate, develops primarily due to paraneoplastic phenomena in adults. Sweet's syndrome is very rare in neonates. We report a Japanese female neonate (age <2 months), who developed Sweet's syndrome with episodes of perineal infection in association with congenital rectovestibular fistula with normal anus. Sweet's syndrome was diagnosed basing on clinical features and histopathology of biopsied skin tissues. Rectovestibular fistula was confirmed after the signs of inflammation subsided and the rash disappeared. In the literature, we found another case of neonatal Sweet's syndrome associated with rectovestibular fistula in a Japanese female neonate. The perineal region should be screened for anomalies following diagnosis of Sweet's syndrome in neonates.

19.
J Atheroscler Thromb ; 10(5): 321-4, 2003.
Article in English | MEDLINE | ID: mdl-14718750

ABSTRACT

A 77-year-old woman with type II diabetes mellitus was admitted to our hospital in August/ 1995 with severe hyperlipidemia. She had taken feedings through a nasogastric tube with 1000 ml (1000 kcal) of Ensureliquid daily since 1993 because of the muscle weakness after rhabdomyolysis. Her serum total cholesterol was 515 mg/dl and triglyceride was 3378 mg/dl despite administration of 10 mg of simvastatin daily. After substitution of a standard diet starting August 21, we found significant decreases of total cholesterol from 725 mg/dl to 194 mg/dl and triglyceride from 4680 mg/dl to 550 mg/dl within 37 days. We also found a severe decrease in her serum total carnitine level of 22 micromol/l (normal range 45-91 micromol/l) before changing the diet, suggesting secondary carnitine deficiency. Severe hyperlipidemia was reversed by changing the carnitine deficient diet (Ensureliquid) to a carnitine-containing diet. We suggested that the development of hyperlipidemia was related to the carnitine deficiency.


Subject(s)
Carnitine/deficiency , Dietary Sucrose/adverse effects , Enteral Nutrition , Hyperlipidemias/diet therapy , Hyperlipidemias/etiology , Aged , Carnitine/administration & dosage , Dietary Sucrose/administration & dosage , Female , Food, Formulated , Humans , Hyperlipidemias/drug therapy , Hypolipidemic Agents/administration & dosage , Rhabdomyolysis/diet therapy , Simvastatin/administration & dosage
20.
Case Rep Pediatr ; 2014: 279389, 2014.
Article in English | MEDLINE | ID: mdl-25140267

ABSTRACT

An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient's peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms.

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