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1.
Diabetol Int ; 15(2): 270-277, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38524930

RESUMO

We examined whether alanine aminotransferase/aspartate aminotransferase (ALT/AST), a marker of hepatosteatosis, may be associated with a wider constellation of variables related to metabolic syndrome in Japanese women. Body fat and distribution, and metabolic syndrome-related variables were measured in 311 young and 148 middle-aged women. We had Pearson's correlation analysis and then stepwise multivariate linear regression analyses. In both middle-aged and young women, ALT/AST was associated with homeostasis model assessment insulin resistance (HOMA-IR), trunk/leg fat ratio and pulse rate. In middle-aged women but not in young women, ALT/AST was associated with waist circumference, fasting glucose, triglyceride, HDL cholesterol (inversely), systolic, diastolic and mean blood pressure (BP). Further, in middle-aged women only, the ratio was associated with BMI, percentage body fat, apolipoprotein B and plasminogen activator inhibitor-1. Among these variables, pulse rate in young women and systolic BP in middle-aged women were associated with ALT/AST independently of trunk/leg fat ratio, a sophisticated measures of abdominal fat accumulation, HOMA-IR, fasting glucose, triglyceride and HDL cholesterol. In conclusion, ALT/AST was associated with pulse rate in young women and with systolic BP in middle-aged women independently of abdominal fat accumulation and insulin resistance. It is noted that their waist circumference averaged < 80 cm and ALT < 30 U/L, suggesting minimum accumulation of abdominal and hepatic fat, respectively, key drivers of insulin resistance and metabolic syndrome. Supplementary Information: The online version contains supplementary material available at 10.1007/s13340-023-00689-z.

2.
Diabetol Int ; 15(2): 194-202, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38524938

RESUMO

Normal-weight but high-percentage trunk fat phenotype was characterized in a setting where adiposity is not associated with educational and socioeconomic status. Body size trajectory since birth, current body composition measured using whole-body dual-energy X-ray absorptiometry, cardiometabolic traits, serum adipokines, and dietary intake were measured cross-sectionally in 251 normal weight Japanese female university students whose fasting triglyceride and homeostasis model assessment-insulin resistance (HOMA-IR) averaged 56 mg/dL and 1.2, respectively. They were grouped according to tertile of percentage trunk fat. Although HOMA-IR did not differ among three groups, high-percentage trunk fat was associated with higher triglyceride and apolipoprotein B, and lower HDL cholesterol and apolipoprotein A1. In multivariate logistic regression analyses, weight-adjusted skeletal muscle mass (OR: 0.13, 95% CI: 0.04-0.38, p < 0.001), weight gain from birth to age 12 years (OR: 1.214、95% CI: 1.008-1.463、p = 0.04), and cereal consumption (OR:1.008, 95% CI: 1.000-1.016, p = 0.04) were associated with high-percentage trunk fat independent of birthweight, HOMA-IR, adipose tissue-insulin resistance index (the product of fasting insulin and free fatty acid), triglyceride, HDL cholesterol, apolipoprotein A1 and B, leptin, adiponectin, blood pressure, and high-sensitivity C-reactive protein. Early childhood growth, lower skeletal muscle mass, and higher cereal consumption may be associated with normal-weight but high-percentage trunk fat phenotype in Japanese female university students in this subanalysis study. Atherogenic profile of lipids and apolipoproteins may be directly related to abdominal fat accumulation.

3.
Dalton Trans ; 53(2): 418-422, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38032087

RESUMO

Fumaric acid is a useful unsaturated dicarboxylic acid that serves as a precursor for the biodegradable plastics poly(butylene succinate) and poly(propylene fumarate). Currently, fumaric acid is mainly synthesised from petroleum resources such as benzene. It is therefore desirable to develop methods to produce fumaric acid from renewable resources such as those derived from biomass. In this work, an effective visible-light driven fumarate production from gaseous CO2 and pyruvate with the system consisting of triethanolamine, cationic water-soluble zinc porphyrin, zinc tetrakis(4-N,N,N-trimethylaminophenyl)porphyrin, pentamethylcyclopentadienyl coordinated rhodium(III) 2,2'-bipyridyl complex, NAD+, malate dehydrogenase (NAD+-dependent oxaloacetate-decarboxylating) and fumarase was developed.

4.
Metab Syndr Relat Disord ; 21(10): 590-595, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38011534

RESUMO

Objective: We assessed whether alanine aminotransferase/aspartate aminotransferase (ALT/AST), a marker of hepatic steatosis, may be associated with adipose tissue dysfunction more closely than hepatic and muscle insulin resistance (IR). Methods: Associations with adipose tissue IR index (AT-IR) calculated as a product of fasting insulin and free fatty acids, leptin/adiponectin ratio, a proxy of adipocyte dysfunction, homeostasis model assessment IR (HOMA-IR), hepatic and muscle IR inferred from plasma insulin kinetics during a 75 grams oral glucose tolerance test (OGTT) were studied in nondiabetic 307 young and 148 middle-aged Japanese women, whose body mass index averaged 20 and 22 kilograms/m2, respectively. Results: On multivariate linear regression analysis in young women, ALT/AST was associated with trunk/leg fat ratio (standardized ß = 0.202, P = 0.007), a marker of abdominal fat accumulation, and AT-IR (standardized ß = 0.185, P = 0.003) independently of HOMA-IR and Matsuda index (R2 = 0.07). In middle-aged women, leptin/adiponectin ratio (standardized ß = 0.446, P < 0.001) and AT-IR (standardized ß = 0.292, P = 0.009) emerged as determinants of ALT/AST independently of trunk/leg fat ratio, OGTT-derived hepatic IR, leptin, and adiponectin (R2 = 0.34). Conclusions: ALT/AST was associated with AT-IR and adipocyte dysfunction more closely than hepatic and muscle IR even in nondiabetic lean Japanese women.


Assuntos
Resistência à Insulina , Insulina , Pessoa de Meia-Idade , Humanos , Feminino , Leptina , Adiponectina , Alanina Transaminase , Japão , Tecido Adiposo , Aspartato Aminotransferases
5.
Sci Rep ; 13(1): 7853, 2023 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-37188859

RESUMO

We tested whether alanine aminotransferase/aspartate aminotransferase (ALT/AST), a marker of hepatosteatosis, associates with insulin resistance, ß-cell function and postglucose glycemia. We studied 311 young and 148 middle-aged Japanese women, whose BMI averaged < 23.0 kg/m2. Insulinogenic index and Matsuda index were evaluated in 110 young and 65 middle-aged women. In two groups of women, ALT/AST was associated positively with homeostasis model assessment insulin resistance (HOMA-IR) and inversely with Matsuda index. In middle-aged women only, the ratio was also associated positively with fasting and postload glycemia and HbA1c. The ratio showed negative association with disposition index (a product of insulinogenic index and Matsuda index). On multivariate linear regression analysis, HOMA-IR emerged as a single determinant of ALT/AST in young and middle-aged women (standardized ß: 0.209, p = 0.003 and 0.372, p = 0.002, respectively). ALT/AST was associated with insulin resistance and ß-cell function even in non-obese Japanese women, suggesting a pathophysiologic basis in its prediction of diabetic risk.


Assuntos
Resistência à Insulina , Pessoa de Meia-Idade , Humanos , Feminino , Resistência à Insulina/fisiologia , Alanina Transaminase , Aspartato Aminotransferases , Análise Multivariada , Modelos Lineares , Insulina
6.
Sci Rep ; 13(1): 8217, 2023 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-37217782

RESUMO

Normal weight insulin resistant phenotype was characterized in 251 Japanese female university students using homeostasis model assessment-insulin resistance. Birth weight, body composition at age 20, cardiometabolic traits and dietary intake were compared cross-sectionally between insulin sensitive (< 1.6, n = 194) and insulin resistant (2.5 and higher, n = 16) women. BMI averaged < 21 kg/m2 and waist < 72 cm and did not differ between two groups. The percentage of macrosomia and serum absolute and fat-mass corrected leptin concentrations were higher in insulin resistant women although there was no difference in birth weight, fat mass index, trunk/leg fat ratio and serum adiponectin. In addition, resting pulse rate, serum concentrations of free fatty acids, triglycerides and remnant-like particle cholesterol were higher in insulin resistant women although HDL cholesterol and blood pressure did not differ. In multivariate logistic regression analyses, serum leptin (odds ratio:1.68, 95% confidential interval:1.08-2.63, p = 0.02) was associated with normal weight insulin resistance independently of macrosomia, free fatty acids, triglycerides, remnant-like particle cholesterol and resting pulse rate. In conclusion, normal weight IR phenotype may be associated with increased plasma leptin concentrations and leptin to fat mass ratio in young Japanese women, suggesting higher leptin production by body fat unit.


Assuntos
Resistência à Insulina , Leptina , Feminino , Humanos , Adiponectina , Peso ao Nascer , Índice de Massa Corporal , População do Leste Asiático , Ácidos Graxos não Esterificados , Macrossomia Fetal , Homeostase , Insulina , Resistência à Insulina/fisiologia , Triglicerídeos
7.
J Neurol Neurosurg Psychiatry ; 94(8): 622-630, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36948577

RESUMO

BACKGROUND: NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of NOTCH2NLC-related IPNs. METHOD: Among 2692 Japanese patients clinically diagnosed with IPN/Charcot-Marie-Tooth disease (CMT), we analysed NOTCH2NLC repeat expansion in 1783 unrelated patients without a genetic diagnosis. Screening and repeat size determination of NOTCH2NLC repeat expansion were performed using repeat-primed PCR and fluorescence amplicon length analysis-PCR. RESULTS: NOTCH2NLC repeat expansions were identified in 26 cases of IPN/CMT from 22 unrelated families. The mean median motor nerve conduction velocity was 41 m/s (range, 30.8-59.4), and 18 cases (69%) were classified as intermediate CMT. The mean age of onset was 32.7 (range, 7-61) years. In addition to motor sensory neuropathy symptoms, dysautonomia and involuntary movements were common (44% and 29%). Furthermore, the correlation between the age of onset or clinical symptoms and the repeat size remains unclear. CONCLUSIONS: These findings of this study help us understand the clinical heterogeneity of NOTCH2NLC-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia.


Assuntos
Doença de Charcot-Marie-Tooth , Disautonomias Primárias , Humanos , Doença de Charcot-Marie-Tooth/genética , Corpos de Inclusão Intranuclear/genética , Japão , Fenótipo
8.
Artigo em Inglês | MEDLINE | ID: mdl-36564085

RESUMO

INTRODUCTION: We tested whether normal-weight obesity might be associated with weight trajectories, body composition and metabolic traits. RESEARCH DESIGN AND METHODS: Body size trajectory since birth, body composition at age 20 years and metabolic traits were compared cross-sectionally among normal-weight Japanese women with low (<25.0%, n=67), normal (25.0-34.9%, n=160) and high (≥35.0 %, n=24) percentage body fat. Multivariate logistic regression analyses were used to identify most important determinants of normal-weight obesity (high percentage body fat). RESULTS: Fasting glucose averaged <84 mg/dL, homeostasis model assessment-insulin resistance <1.4 and triglyceride <70 mg/dL and did not differ among three groups. However, waist and trunk/leg fat ratio were higher, and weight-adjusted skeletal muscle mass was lower in normal-weight obesity. Serum and LDL cholesterol, apolipoprotein B (ApoB) and high-sensitivity C reactive protein were higher, and apolipoprotein A1 was lower in normal-weight obesity compared with the other two groups, whereas HDL cholesterol did not differ. Weight gain from birth to age 12 years was higher in normal-weight obesity. In multivariate logistic regression analyses, weight gain until 12 years (OR: 1.17,95% CI 1.02 to 1.34, p=0.02), ApoB (OR: 1.15, 95% CI 1.06 to 1.24, p<0.001) and weight-adjusted skeletal muscle mass (OR: 0.22, 95% CI 0.10 to 0.49, p<0.001) were associated with normal-weight obesity independently of trunk/leg fat ratio, high-sensitivity C reactive protein and apolipoprotein A1. CONCLUSIONS: Normal-weight obesity may be associated with early childhood growth, lower skeletal muscle mass and higher serum ApoB in young Japanese women through mechanisms unrelated to abdominal adiposity, inflammation and insulin resistance.


Assuntos
Trajetória do Peso do Corpo , Resistência à Insulina , Pré-Escolar , Humanos , Feminino , Adulto Jovem , Adulto , Criança , Apolipoproteína A-I , Proteína C-Reativa , População do Leste Asiático , Obesidade/complicações , Composição Corporal , Aumento de Peso , Apolipoproteínas B , Tecido Adiposo
9.
Sci Rep ; 12(1): 18557, 2022 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-36329131

RESUMO

Evidence regarding the possible influence of nutritional status on the facial morphology has thus far been insufficient. We examined whether or not the physical body compositions and dietary behaviors were correlated with any morphological characteristics of the face. One hundred and fifteen young Japanese women participated. Variables representing the dietary behaviors were extracted from self-reported survey data, and corresponding three-dimensional (3D) facial images and body compositions were examined. Multivariate analyses identified significant relationships between the nutritional status and facial topography (p < 0.05). The clustering method revealed the existence of three dietary condition patterns ("balanced diet", "high-calorie-diet" with obesity tendency, and "imbalanced low-calorie-diet" with sarcopenic obesity tendency). Among these three patterns, a round face (increased facial width; analysis of variance [ANOVA], p < 0.05) was observed in the high-calorie-diet pattern, while the imbalanced low-calorie-diet pattern showed a more masculine face (increased face height, decreased eye height, increased non-allometric sexual shape differences; ANOVA, p < 0.05), thus suggesting the possibility of sex-hormonal influences. In summary, the body composition and dietary behaviors were found to influence the facial morphology, and potential biological influences were discussed.


Assuntos
Face , Estado Nutricional , Humanos , Feminino , Face/anatomia & histologia , Japão , Imageamento Tridimensional/métodos , Obesidade
10.
Front Neurol ; 13: 952493, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36034314

RESUMO

The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously expanding. We conducted this study to demonstrate the clinical and genetic features of a large-scale case series of Japanese patients with cerebellar ataxia with RFC1 repeat expansions. We examined 1,289 Japanese patients with cerebellar ataxia and analyzed RFC1 repeat expansions in 840 patients, excluding those with genetic diagnoses or an autosomal dominant inheritance pattern. For individuals where no product was obtained by flanking polymerase chain reaction (PCR), repeat-primed PCR was performed using primers specific for the following four repeat motifs: AAAAG, AAAGG, AAGGG, and ACAGG. RFC1 analysis revealed multitype biallelic pathogenic repeat expansions in 15 patients, including (AAGGG)exp/(AAGGG)exp in seven patients, (ACAGG)exp/(ACAGG)exp in three patients, (AAGGG)exp/(ACAGG)exp in four patients, and (AAGGG)exp/(AAAGG)15(AAGGG)exp in one patient. Clinical analysis showed various combinations of cerebellar ataxia, vestibular dysfunction, neuropathy, cognitive decline, autonomic dysfunction, chronic cough, pyramidal tract disorder, parkinsonism, involuntary movement, and muscle fasciculation. Pathological RFC1 repeat expansions account for 1.8% (15/840) of undiagnosed patients with cerebellar ataxia and sporadic/recessive/unclassified inheritance. Screening of RFC1 repeat expansions should be considered in patients with cerebellar ataxia, irrespective of their subtype and onset age.

11.
Biomedicines ; 10(7)2022 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-35884855

RESUMO

Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on 2695 IPN cases throughout Japan, in which PMP22 copy number variation (CNV) was pre-excluded. Genetic analyses were performed using DNA microarrays, next-generation sequencing-based gene panel sequencing, whole-exome sequencing, CNV analysis, and RFC1 repeat expansion analysis. The overall diagnostic rate and the genetic spectrum of patients were summarized. We identified 909 cases with suspected IPNs, pathogenic or likely pathogenic variants. The most common causative genes were MFN2, GJB1, MPZ, and MME. MFN2 was the most common cause for early-onset patients, whereas GJB1 and MPZ were the leading causes of middle-onset and late-onset patients, respectively. Meanwhile, GJB1 and MFN2 were leading causes for demyelinating and axonal subtypes, respectively. Additionally, we identified CNVs in MPZ and GJB1 genes and RFC1 repeat expansions. Comprehensive genetic analyses explicitly demonstrated the genetic basis of our IPN case series. A further understanding of the clinical characteristics of IPN and genetic spectrum would assist in developing efficient genetic testing strategies and facilitate early diagnosis.

12.
Sci Rep ; 12(1): 12579, 2022 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-35869280

RESUMO

Limited expandability of subcutaneous adipose tissue may be characteristics of first-degree relatives of type 2 diabetes. We tested the hypothesis that family history of type 2 diabetes (FHD) may be associated with reduced peripheral fat mass. Body composition and metabolic variables were compared between 18 and 111 Japanese female collegiate athletes, and between 55 and 148 nonathletes with positive (FHD +) and negative FHD (FHD-), respectively. We had multivariate logistic regression analyses for FHD + as dependent variable in a total population.BMI averaged < 21 kg/m2 and did not differ between FHD + and FHD- nonathletes. Despite comparable BMI, body fat percentage and serum leptin were lower in FHD + nonathletes. This was due to lower arm and gluteofemoral fat percentage (both p = 0.02) whereas the difference in trunk fat percentage was not significant (p = 0.08). These differences were not found between two groups of athletes. FHD + women had lower HDL cholesterol despite lower BMI in a total population. Fasting insulin, serum adiponectin and high-sensitivity C-reactive protein did not differ between FHD + and FHD- athletes or nonathletes. Multivariate logistic regression analyses revealed independent associations of FHD + with BMI (odds ratio, 0.869; 95% confidential interval, 0.768-0.984; p = 0.02) and HDL cholesterol (odds ratio, 0.977; 95% confidential interval, 0.957-0.997, p = 0.02). In conclusion, FHD may be associated with reduced subcutaneous fat mass in young Japanese women, suggesting impaired adipose tissue expandability.


Assuntos
Diabetes Mellitus Tipo 2 , Resistência à Insulina , Glicemia/metabolismo , Índice de Massa Corporal , HDL-Colesterol , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Feminino , Humanos , Japão/epidemiologia
13.
Ann Clin Transl Neurol ; 9(7): 902-911, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35733399

RESUMO

BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of SLC12A6-related Charcot-Marie-Tooth (CMT) disease in Japanese patients. METHODS: We extracted SLC12A6 variants from our DNA microarray and targeted resequencing data obtained from 2598 patients with clinically suspected CMT who were referred to our genetic laboratory by neurological or neuropediatric departments across Japan. And we summarized the clinical and genetic features of these patients. RESULTS: In seven unrelated families, we identified one previously reported and three novel likely pathogenic SLC12A6 heterozygous variants, as well as two variants of uncertain significance. The mean age of onset for these patients was 17.5 ± 16.1 years. Regarding electrophysiology, the median motor nerve conduction velocity was 39.6 ± 9.5 m/sec. For the first time, we observed intellectual disability in three patients. One patient developed epilepsy, and her brain MRI revealed frontal and temporal lobe atrophy without changes in white matter and corpus callosum. CONCLUSIONS: Screening for the SLC12A6 gene should be considered in patients with CMT, particularly those with central nervous system lesions, such as cognitive impairment and epilepsy, regardless of the CMT subtype.


Assuntos
Doença de Charcot-Marie-Tooth , Simportadores , Adolescente , Adulto , Doença de Charcot-Marie-Tooth/genética , Criança , Pré-Escolar , Feminino , Heterozigoto , Humanos , Lactente , Japão , Mutação , Simportadores/genética , Adulto Jovem
14.
Diabetol Int ; 13(2): 375-380, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35463858

RESUMO

Introduction: We tested whether birth weight might be associated with gluteofemoral fat mass and insulin sensitivity later in life. Materials and methods: Body size trajectory since birth, body composition at age 20, and markers of insulin resistance were measured in 316 Japanese women. A subset of 148 women underwent a 75 g oral glucose tolerance test. Multiple linear regression analyses were used to identify most important determinants of birth weight. Results: Birth weight was correlated positively with height and weight at age 12, 15, and 20 years (all p < 0.001 except for weight at 12 years, p = 0.03). Although it showed no correlation with BMI at age 12 and 15, it was correlated positively with current BMI (p = 0.006). It showed positive correlations with lean mass in arms, legs, trunk, and the whole body at age 20 (all p < 0.001). Additionally, it was correlated positively with leg (gluteofemoral) fat mass (p = 0.007), although there was no correlation with total body and trunk fat mass. Furthermore, weight at birth showed inverse correlations with 2-h postglucose insulin concentrations (p = 0.008) whereas it was not correlated with fasting insulin and homeostasis model assessment-insulin resistance. In a multiple regression analysis, which included anthropometric and biochemical variables as independent variables, appendicular muscle mass (standardized ß 0.394, p < 0.001) emerged as a single determinant of birth weight (R 2 = 0.15). In a model which included gluteofemoral fat mass and 2-h postglucose insulin, birth weight was associated with gluteofemoral fat mass (standardized ß 0.240, p = 0.003) and 2-h postglucose insulin concentrations (standardized ß - 0.217, p = 0.007) (R 2 = 0.09). Conclusions: Birth weight was associated positively with gluteofemoral fat mass and inversely with 2-h postglucose insulin concentrations, a marker of insulin resistance.

15.
Ann Clin Transl Neurol ; 9(5): 747-755, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35482004

RESUMO

BACKGROUND: Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predominantly demyelinating sensorimotor peripheral neuropathy. METHODS: We performed whole-exome sequencing (WES) of DNA samples from 804 Charcot-Marie-Tooth (CMT) cases that could not be genetically diagnosed by DNA-targeted resequencing microarray using next-generation sequencers. Using WES data, we analyzed the POLR3B mutations and confirmed their clinical features. RESULTS: We identified de novo POLR3B heterozygous missense mutations in two patients. These patients presented with early-onset demyelinating sensorimotor neuropathy without ataxia, spasticity, or cognitive impairment. Patient 1 showed mild cerebellar atrophy and spinal cord atrophy on magnetic resonance imaging and eventually died of respiratory failure in her 50s. We classified these mutations as pathogenic based on segregation studies, comparison with control database, and in silico analysis. CONCLUSION: Our study is the third report on patients with demyelinating CMT harboring heterozygous POLR3B mutations and verifies the pathogenicity of POLR3B mutations in CMT. Although extremely rare in our large Japanese case series, POLR3B mutations should be added to the CMT-related gene panel for comprehensive genetic screening, particularly for patients with early-onset demyelinating CMT.


Assuntos
Doença de Charcot-Marie-Tooth , Ataxia , Atrofia , Doença de Charcot-Marie-Tooth/genética , Feminino , Humanos , Japão , Mutação , Fenótipo , RNA Polimerase III/genética
16.
Womens Health Rep (New Rochelle) ; 3(1): 215-221, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35262059

RESUMO

Introduction: We studied weight trajectory since birth and dietary intake in Japanese female students majoring in nutrition sciences. Materials and Methods: Birth weight, adolescent height and weight, current body composition by whole-body dual-energy X-ray absorptiometry, dietary intake, glucose tolerance, lipid profile, and adipokines were cross-sectionally compared between young underweight (body mass index [BMI] <18.5) and normal-weight (BMI ≥18.5 and <25.0) women with overweight (BMI ≥25.0) women as an internal reference. Results: Serum adiponectin (leptin) was the highest (lowest) in 42 underweight women, intermediate levels in 251 normal-weight women, and the lowest (highest) levels in 14 overweight women. Compared with normal-weight women, underweight women had lower weight at birth, at age 12, 15, and 20 years, but comparable height, and hence lower BMI at three time points. Underweight women had higher gluteofemoral fat adjusted for total body fat and weight-adjusted skeletal muscle mass, although absolute and height-adjusted fat mass and skeletal muscle mass were lower. Glucose tolerance assessed by oral glucose testing, serum triglycerides, and high-density lipoprotein cholesterol did not differ between the two groups. Daily intake expressed per kg of body mass of energy and protein was the highest in underweight women, intermediate levels in normal-weight women, and the lowest levels in overweight women. Conclusions: Some young Japanese women are underweight not because of a strong drive for thinness, but because they were born lighter and remained lean until young adults. Underweight was associated with higher gluteofemoral fat adjusted for total body fat and relative skeletal muscle mass.

17.
Plast Reconstr Surg Glob Open ; 10(2): e4110, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35198345

RESUMO

For large lower lip defects, a thin flap combined with a tendon is the standard reconstructive option. However, this method can result in flap ptosis, which occurred in two of our patients. To correct the ptosis, we transplanted costal cartilage into the reconstructed lower lips, which produced good or moderate results. We report our experience based on long-term follow-up. In case 1, reconstruction was performed with a latissimus dorsi myocutaneous flap. Within 10 years of the first cartilage transplant, two additional surgeries were required due to cartilage/screw breakage. These problems may have been triggered by the bulkiness of the flap and/or the angle at which the cartilage was anchored in place. There have not been any further problems for 3 years. In case 2, reconstruction was performed with a free anterolateral thigh flap. The skin around the flap had poor extensibility, and the patient had marked Class II occlusion. We grafted cartilage without fixing it to the mandible. However, temporary interference with the maxillary dentition was observed. In conclusion, costal cartilage grafts are effective against flap ptosis after free flap reconstruction of the lower lip in patients without Class II occlusion. To achieve long-term stability, the optimal angle and positioning of the cartilage and the extensibility of the skin must be thoroughly investigated before surgery, and a thick piece of cartilage must be firmly fixed in place.

18.
J Womens Health (Larchmt) ; 31(9): 1358-1363, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35180359

RESUMO

Background: We assessed the association of infant feeding with body composition and cardiometabolic health at 20 years in a setting where infant feeding is not associated with socioeconomic status. Materials and methods: Body size trajectory since birth, current body composition measured using whole-body dual-energy X-ray absorptiometry, and a broad range of cardiometabolic risk factors were compared cross-sectionally among young female university students who were ever breastfed (n = 158, 120 exclusively, and 38 mainly), mixed fed (n = 124), and formula fed (n = 15, 10 mainly, and 5 exclusively) Results: Compared with breastfed and mixed fed women, formula fed women had higher serum total and low-density lipoprotein (LDL) cholesterol although fat mass, fat distribution, fasting glucose, and insulin and high-density lipoprotein cholesterol did not differ. In addition, resting heart rates were higher in formula fed women compared with the other two groups of women although systolic and diastolic blood pressure did not differ. Further, formula fed women had higher adiponectin while serum leptin did not differ. There was no difference in birthweight, weight and height in childhood and adolescence, and glucose tolerance. On multivariate logistic regression analysis, formula feeding was associated with resting heart rates (odds ratio [OR]: 1.06, confidence interval [95% CI]; 1.01-1.12, p = 0.01) and adiponectin (OR: 1.3, 95% CI; 1.1-1.5, p < 0.001) independently of serum total and LDL cholesterol. Conclusions: Breastfeeding may be associated with favorable lipid profile and autonomic nervous function in young adults through mechanisms unrelated to adiposity, implicating potential long-term benefits of breastfeeding for cardiovascular health. Higher adiponectin in nonbreastfed women warrants further studies.


Assuntos
Doenças Cardiovasculares , Leptina , Adiponectina , Adolescente , Composição Corporal , Aleitamento Materno , Colesterol , HDL-Colesterol , LDL-Colesterol , Feminino , Glucose , Humanos , Lactente , Insulina , Estudantes , Universidades , Adulto Jovem
19.
J Diabetes Res ; 2022: 7153238, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35103244

RESUMO

INTRODUCTION: Adipose tissue (AT) expandability may be facilitated by adiponectin and suppressed by orosomucoid, and reduced AT expandability may be associated with first-degree relatives of type 2 diabetes. We tested the hypothesis that orosomucoid may be associated not only with adiponectin and adipose tissue insulin resistance but also with a family history of type 2 diabetes (FHD). Research Design and Methods. Anthropometric and metabolic variables, adipokines, and measures of inflammatory and insulin resistance were cross-sectionally investigated in 153 young normal weight Japanese women. Stepwise multivariate linear regression analyses were used to identify the most important determinants of orosomucoid. RESULTS: Orosomucoid was higher in women with positive (n = 57) compared to women with negative FHD and was associated positively with FHD (both p = 0.01). Orosomucoid also showed positive associations with fasting glucose (p < 0.001), free fatty acids (p = 0.001), and HbA1c (p = 0.007), whereas there was no association with fasting insulin and serum lipids. In addition, orosomucoid was associated inversely with adiponectin (p = 0.02) and positively with adipose tissue-insulin resistance index (AT-IR, the product of fasting insulin and free fatty acids; p = 0.001) but not with homeostasis model assessment-insulin resistance, leptin, and high-sensitivity C-reactive protein. In multivariate analyses, AT-IR (standardized ß, 0.22; p = 0.003), serum adiponectin (standardized ß, -0.163; p = 0.032), FHD+ (standardized ß, 0.178; p = 0.029), and HbA1c (standardized ß, 0.213; p = 0.005) emerged as independent determinants of orosomucoid and explained 15.2% of its variability. CONCLUSIONS: These results are the first to demonstrate that orosomucoid is associated not only with adipose tissue-insulin resistance and adiponectin but also with FHD.


Assuntos
Adiponectina/análise , Diabetes Mellitus Tipo 2/diagnóstico , Resistência à Insulina/fisiologia , Orosomucoide/análise , Adiponectina/sangue , Tecido Adiposo/metabolismo , Tecido Adiposo/fisiopatologia , Adulto , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Humanos , Insulina/análise , Insulina/biossíntese , Insulina/sangue , Japão/epidemiologia , Masculino , Anamnese/métodos , Anamnese/estatística & dados numéricos , Pessoa de Meia-Idade , Orosomucoide/metabolismo
20.
Metab Syndr Relat Disord ; 20(2): 88-93, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34978864

RESUMO

Objective: We examined whether elevated blood pressure (BP) (≥120/80 mmHg) was associated with several anthropometric, metabolic, and clinical variables, including the family history of type 2 diabetes (FHD) and low birth weight, in young normal weight Japanese women. Methods: BP, body composition, and fasting glucose, insulin, lipids, lipoproteins, apolipoproteins, and adipokines were measured in 332 young Japanese women. They received a questionnaire on birth weight and FHD. Results: The prevalence of low birth weight was 2.4% and that of positive FHD was 22.9%. Homeostasis model assessment-insulin resistance averaged <1.5 and did not differ cross-sectionally between 32 women with elevated BP and 300 women with normal BP although mean body mass index was higher in the former than in the latter (21.7 ± 2.9 kg/m2 vs. 20.8 ± 2.2 kg/m2, P = 0.02). Women with elevated BP had higher fat mass index (P = 0.02) and trunk fat percentage (P = 0.04). They had lower high-density lipoprotein (HDL) cholesterol and apolipoprotein A1 (both P = 0.01) while fasting triglycerides and apolipoprotein B did not differ. In addition, they had higher plasminogen activator inhibitor-1 (PAI-1) (P = 0.001). Furthermore, the prevalence of low birth weight (9.4% vs. 1.7%, P = 0.03) and positive FHD (40.6% vs. 20.0%, P = 0.01) was higher in women with elevated BP. Multivariable logistic regression analyses revealed that elevated BP was independently associated with PAI-1 [odds ratio (OR); 1.05, 95% confidence interval (CI): 1.02-1.08, P = 0.001], low birth weight (OR: 12.3, 95% CI: 2.3-67.3, P = 0.04), and FHD (OR: 3.0, 95% CI: 1.3-7.9, P = 0.01). Conclusion: Elevated BP was associated with positive FHD, low birth weight, and elevated serum PAI-1 in young normal weight Japanese women.


Assuntos
Diabetes Mellitus Tipo 2 , Hipertensão , Inibidor 1 de Ativador de Plasminogênio , Glicemia/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , HDL-Colesterol , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Recém-Nascido de Baixo Peso , Recém-Nascido , Japão/epidemiologia , Inibidor 1 de Ativador de Plasminogênio/sangue
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