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Nutritional and Metabolic Diseases - Top 30 Publications

Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.

Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias. We aimed to investigate whether mtDNA haplogroup influences LHON clinical expression in Indian patients harboring the m.11778G>A mutation.

Xanthomas in Familial Hypercholesterolemia.

Modifications in Retinal Mitochondrial Respiration Precede Type 2 Diabetes and Protracted Microvascular Retinopathy.

To characterize retinal mitochondrial respiration associated with type 2 diabetes (T2D) progression in a cone-rich diurnal rodent, the Nile rat (genus Arvicanthis, species niloticus).


Osteoporosis is a common systemic skeletal disorder resulting in bone fragility and increased fracture risk. However, management of osteoporosis and fracture prevention strategies are often not addressed by primary care clinicians, even in older patients with recent fractures. Evidence-based screening strategies will improve identification of patients who are most likely to benefit from drug treatment to prevent fracture. In addition, careful consideration of when pharmacotherapy should be started and choice of medication and duration of treatment will maximize the benefits of fracture prevention while minimizing potential harms of long-term drug exposure.

Original Research: The Effects of Red Yeast Rice Supplementation on Cholesterol Levels in Adults.

: Purpose: Red yeast rice (RYR) supplementation has become a popular alternative to statin therapy in treating hypercholesterolemia. This state-of-the-science review seeks to explore the most recent evidence on the effectiveness and safety of RYR supplementation in treating dyslipidemic adults.

More on Intralymphatic Injection of Autoantigen in Type 1 Diabetes.

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC).

Localized nasopharyngeal amyloidosis mimicking malignancy: A case report.

Nasopharyngeal amyloidosis is a benign, slowly progressive disease that is characterized by extracellular eosinophilic deposition.

A rare case of iron-pill induced gastritis in a female teenager: A case report and a review of the literature.

The treatment of iron-deficiency anemia with oral iron supplements can present side-effects on the GI tract mucosa including necrosis, ulceration, or ischemia. The particular endoscopic findings and the histopathological exam will establish the diagnosis of erosive gastritis with iron deposits in the gastric mucosa.

Serum vaspin level as a predictive indicator in the amelioration of fatty liver and metabolic disturbance in patients with severe obesity after laparoscopic vertical banded gastroplasty.

This study is all about predicting the value of serum vaspin level in the amelioration of fatty liver and metabolic disturbance in patients with severe obesity after laparoscopic vertical banded gastroplasty (LVBG).

Clinical significance of delta neutrophil index in the differential diagnosis between septic arthritis and acute gout attack within 24 hours after hospitalization.

The most important differential diagnoses of acute monoarticular arthritis are septic arthritis and acute gout attack. Identifying infection is crucial in preventing the devastating outcome of septic arthritis. The delta neutrophil index (DNI) is a value that corresponds to the fraction of circulating immature granulocytes. As DNI reflects the burden of infection, we evaluated this index as a differentiating marker between septic arthritis and acute gout attack.The medical records of 149 patients with septic arthritis and 194 patients with acute gout attack were reviewed. A specific cell analyzer, ADVIA 2120, was used to measure DNI. Clinical and laboratory markers associated with predicting septic arthritis were assessed by using logistic regression.Patients with septic arthritis showed higher levels of DNI than those with acute gout attack (3.3 vs 0.6%, P < .001). Similar results were observed in patients without monosodium urate (MSU) crystal confirmation or those with normouricemia (3.3 vs 0.5 and 3.1 vs 0.7%, respectively; P < .001 for both). A DNI level of 1.9% was determined as the cutoff value for predicting septic arthritis. In the multivariate analysis, DNI was the most powerful independent value for predicting septic arthritis (odds ratio 14.003).This study showed the possibility of using DNI as a differentiating marker between septic arthritis and acute gout attack at the crucial early phase. DNI showed its relevance regardless of confirmation of MSU crystal deposition or serum level of uric acid.

Nystagmus from Wernicke's Encephalopathy.

More on Intralymphatic Injection of Autoantigen in Type 1 Diabetes.

Macular Vascular Fractal Dimension in the Deep Capillary Layer as an Early Indicator of Microvascular Loss for Retinopathy in Type 2 Diabetic Patients.

To determine the ability of fractal dimension to detect early changes in the retinal microvascular network imaged by optical coherence tomography angiography (OCT-A) in type 2 diabetic patients.


Whole body vibration exercises (WBVE) improve the quality of life (QoL) of different populations. Metabolic syndrome patients (MetS) may be favored by physical activity. Questionnaires are used to assess the QoL. The aim was to evaluate the QoL of patients with MetS that have undergone WBVE with a brief WHOQOL (WHOQOL-BREF).

Clinical Characteristics and Prognosis of Elderly Small Cell Lung Cancer Patients Complicated with Hyponatremia: A Retrospective Analysis.

This study was designed to evaluate the clinical characteristics and prognosis of elderly small cell lung cancer (SCLC) patients complicated with hyponatremia, thus providing increased attention for appropriate intervention and improving outcomes in symptomatic subjects.

Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study.

We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

Impact of Amyotrophic Lateral Sclerosis on Slow Tonic Myofiber Composition in Human Extraocular Muscles.

To analyze the proportion and cross-sectional area of myofibers containing myosin heavy chain slow-twitch (MyHCI) and myosin heavy chain slow tonic (MyHCsto) in extraocular muscles of autopsied amyotrophic lateral sclerosis (ALS) patients with either spinal or bulbar site of disease onset.

A Bone Health Intervention for Chinese Immigrants in Santa Clara County.

Among Chinese immigrants, osteoporosis is undertreated, misdiagnosed, and a leading cause of fragility fractures. In orthopaedic surgery departments, prevention education and health behavior change programs are necessary to improve their bone health.

Transgender Individuals and Osteoporosis Prevention.

Risk behaviors and hormone use place transgender individuals (TIs) in jeopardy for osteoporosis.

First in the Nation: One Unit's Journey to Achieving Fragility Fracture Certification.

Osteoporosis is related to more than 2 million fractures and $19 billion in healthcare costs each year (). A fragility fracture (FF) is a low-energy fracture of the distal radius, proximal humerus, ankle, or proximal femur (hip) from minimal trauma such as a fall from a standing height. In addition to cost, FFs often result in the loss of independence and productivity (). In 2015, our orthopaedic unit received the first certification ever awarded for FFs. Fragility fracture certification is a new certification demonstrating that a healthcare facility complies with national patient care standards and uses evidence-based practice guidelines to deliver quality outcomes. Orthopaedic nurses have a critical role in optimizing future bone health and fracture prevention. Our story describes the process and challenges faced becoming the first organization in the nation to be successfully surveyed for The Joint Commission's Fragility Fracture Certification.

Assessing and Improving Childhood Nutrition and Growth Globally.

Improving maternal and child nutrition is central to global development goals and reducing the noncommunicable disease burden. Although the process of becoming malnourished starts in utero, the consequences of poor nutrition extend across the life cycle and into future generations. The global nutrition targets for 2025 include reducing infant and young child growth faltering, halting the increase of overweight children, improving breastfeeding practices, and reducing maternal anemia. In this review, we address nutritional assessment, discuss nonnutritive factors that affect growth, and endorse the evidence-based interventions that should be scaled up to improve maternal and child nutrition.

Incidence Trends of Type 1 and Type 2 Diabetes among Youths, 2002-2012.

Mortality and Cardiovascular Disease in Type 1 and Type 2 Diabetes.

Effect of diet and physical activity based interventions in pregnancy on gestational weight gain and pregnancy outcomes: meta-analysis of individual participant data from randomised trials.

Objective To synthesise the evidence on the overall and differential effects of interventions based on diet and physical activity during pregnancy, primarily on gestational weight gain and maternal and offspring composite outcomes, according to women's body mass index, age, parity, ethnicity, and pre-existing medical condition; and secondarily on individual complications.Design Systematic review and meta-analysis of individual participant data (IPD). Data sources Major electronic databases from inception to February 2017 without language restrictions.Eligibility criteria for selecting studies Randomised trials on diet and physical activity based interventions in pregnancy.Data synthesis Statistical models accounted for clustering of participants within trials and heterogeneity across trials leading to summary mean differences or odds ratios with 95% confidence intervals for the effects overall, and in subgroups (interactions).Results IPD were obtained from 36 randomised trials (12 526 women). Less weight gain occurred in the intervention group than control group (mean difference -0.70 kg, 95% confidence interval -0.92 to -0.48 kg, I(2)=14.1%; 33 studies, 9320 women). Although summary effect estimates favoured the intervention, the reductions in maternal (odds ratio 0.90, 95% confidence interval 0.79 to 1.03, I(2)=26.7%; 24 studies, 8852 women) and offspring (0.94, 0.83 to 1.08, I(2)=0%; 18 studies, 7981 women) composite outcomes were not statistically significant. No evidence was found of differential intervention effects across subgroups, for either gestational weight gain or composite outcomes. There was strong evidence that interventions reduced the odds of caesarean section (0.91, 0.83 to 0.99, I(2)=0%; 32 studies, 11 410 women), but not for other individual complications in IPD meta-analysis. When IPD were supplemented with study level data from studies that did not provide IPD, the overall effect was similar, with stronger evidence of benefit for gestational diabetes (0.76, 0.65 to 0.89, I(2)=36.8%; 59 studies, 16 885 women).Conclusion Diet and physical activity based interventions during pregnancy reduce gestational weight gain and lower the odds of caesarean section. There is no evidence that effects differ across subgroups of women.

Continuous use of metformin can improve survival in type 2 diabetic patients with ovarian cancer: A retrospective study.

Evidence indicates that type 2 diabetes may stimulate the initiation and progression of several types of cancer. Metformin, a drug most commonly used to treat type 2 diabetes, may inhibit cancer cell growth and reduce the risk of cancer. However, evidence of the antitumor effects of metformin on ovarian cancer is still limited.In this study, we retrospectively examined the effects of metformin on ovarian cancer patients with diabetes at our institution.We identified 568 consecutive patients who were newly diagnosed with ovarian cancer and treated between January 2011 and March 2014. Patients with International Federation of Gynecology and Obstetrics (FIGO) stage I to IV epithelial ovarian, fallopian, or peritoneal cancer were included. Patients with type 1 diabetes, incomplete records (including medication records) and any other cancer before their ovarian cancer diagnosis, as well as those diagnosed with diabetes more than 6 months after their ovarian cancer diagnosis, were excluded. Out of 568 patients, 48 (8.5%) patients with type 2 diabetes continuously used metformin, 34 (5.9%) patients with type 2 diabetes did not take metformin, 22 (3.9%) patients with type 2 diabetes discontinued metformin, and 464 (81.7%) ovarian cancer patients were nondiabetic controls. Longer progression-free survival (PFS) and overall survival (OS) were observed in ovarian cancer patients with diabetes who were taking metformin than in diabetic patients not taking metformin, diabetic patients who discontinued metformin, and nondiabetic ovarian cancer patients (P = .001). After adjusting for possible confounders, metformin use was associated with a lower risk for disease relapse [hazard ratio (HR) = 0.34; 95% confidence interval (CI): 0.27-0.67; P < .01] and disease-related death (HR = 0.29; 95% CI: 0.13-0.58, P = .03) among ovarian cancer patients with diabetes.Metformin use may decrease the risk for disease recurrence and death in patients with ovarian cancer, but the drug treatment must be continuous.

Leukoencephalopathy with calcifications and cysts: A case report.

Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. Due to its rarity, the clinical, radiological, and histopathological features have yet to be well elucidated.

Assessment of optic disc and ganglion cell layer in diabetes mellitus type 2.

The purpose of this study was to compare the optic disc parameters, retinal nerve fiber (RNFL), and macular ganglion cell layers between patients with diabetes mellitus (DM) type 2 and healthy controls.In this cross-sectional study, 69 eyes of 69 diabetic patients without diabetic retinopathy and 47 eyes of 47 healthy controls were included. Optic disc parameters (i.e., rim area, disc area, cup to disc ratio, cup volume), RNFL, and macular ganglion cell-inner plexiform layers (GCL + IPL) thickness were measured by means of spectral domain optical coherence tomography.There were not statistically significant differences between the diabetic patients and healthy controls in terms of RNFL thickness (P = .32), rim area (P = .20), disc area (P = .16), cup volume (P = .12), and average macular GCL + IPL thickness (P = .11). Nevertheless, binocular RNFL thickness symmetry percentage (P =.03), average cup to disc ratio (P = .02), and superior-nasal macular GCL + IPL thickness (P = .04) were statistically significantly different in the diabetic and control groups.Diabetic patients without retinopathy have more binocular RNFL thickness asymmetry, higher cup to disc ratio, and thinner sectoral macular GCL + IPL when compared to healthy controls. Our results may support the statement that DM causes inner retinal neurodegenerative changes.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ± 19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ± 3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.

Efficacy and safety of bivalirudin versus heparin in patients with diabetes mellitus undergoing percutaneous coronary intervention: A meta-analysis of randomized controlled trials.

The efficacy and safety of bivalirudin (Biva) versus heparin in patients with diabetes mellitus (DM) who undergo percutaneous coronary intervention (PCI) remain controversial. Our meta-analysis was undertaken to evaluate the efficacy and safety of Biva compared with those of heparin in patients with diabetes undergoing PCI.