Non-invasive assessment of hepatic steatosis by ultrasound-derived fat fraction in individuals at high-risk for metabolic dysfunction-associated steatotic liver disease.

AIMS: Given the increasing number of individuals developing metabolic dysfunction-associated steatotic liver disease (MASLD) and the low rate of those with progressive liver disease, there is a pressing need to conceive affordable biomarkers to assess MASLD in general population settings. Herein, we aimed to investigate the performance of the ultrasound-derived fat fraction (UDFF) for hepatic steatosis in high-risk individuals. METHODS: A total of 302 Europeans with obesity, type 2 diabetes, or a clinical history of hepatic steatosis were included in the analyses. Clinical, laboratory, and imaging data were collected using standardized procedures during a single screening visit in Rome, Italy. Hepatic steatosis was defined by controlled attenuation parameter (CAP) or ultrasound-based Hamaguchi's score. UDFF performance for hepatic steatosis was estimated by the area under the receiver operating characteristic curve (AUC). RESULTS: Overall, median (IQR) UDFF was 12% (7-20). UDFF was positively correlated with CAP (ρ = 0.73, p < 0.0001) and Hamaguchi's score (ρ = 0.79, p < 0.0001). Independent predictors of UDFF were circulating triglycerides, alanine aminotransferase (ALT), and ultrasound-measured visceral adipose tissue (VAT). UDFF AUC was 0.89 (0.85-0.93) and 0.92 (0.88-0.95) for CAP- and ultrasound-diagnosed hepatic steatosis, respectively. UDFF AUC for hepatic steatosis was higher than those of fatty liver index (FLI), hepatic steatosis index (HSI), CAP-score (CAPS), and ALT (p < 0.0001). Lower age, ALT, and VAT were associated with discordance between UDFF and ultrasound. CONCLUSIONS: UDFF may be a simple and accurate imaging biomarker to assess hepatic steatosis and monitor changes in hepatic fat content over time or in response to therapeutic interventions beyond clinical trials.

Short- and long-term effects of very low- and low-calorie ketogenic diets on metabolism and cardiometabolic risk factors: a narrative review.

Worldwide obesity and cardiovascular diseases have encouraged the adoption of new and efficient dietary strategies. Among various proposed diets, ketogenic diets, both the very-low-calorie ketogenic diet (VLCKD) and the low-calorie ketogenic diet (LCKD), have been suggested in recent years as an effective nutritional approach for obesity management. The VLCKD and the LCKD are characterized by a low carbohydrate content (<50 g/day), 1-1.5 g of protein/kg of ideal body weight, less than 20-30 g of lipids, and a daily intake of about 800 calories for VLCKD and about 1200-1400 calories for LCKD. The purpose of our narrative review is to offer an overview of the most impactful studies in the scientific literature regarding VLCKD and LCKD to discuss their short- and long-term effects (less than 12 months and more than 12 months respectively) on weight loss, metabolic and cardiovascular aspects. Articles we focused on were cohort studies, case-control studies, cross-sectional studies, randomized controlled trials, and meta-analyses. Results indicate that VLCKD and LCKD could be helpful to ameliorate metabolic and cardiovascular risk factors such as weight loss, glucose, and cholesterol levels, both in the short and long term. Further research in this area may include more randomized controlled trials to gather more data.

Optical vortex beam controlling based on fork grating stored in a dye-doped liquid crystal cell.

In this paper, we investigate the generation and controlling of the optical vortex beam using a dye-doped liquid crystal (DDLC) cell. The spatial distribution of the quasi-sinusoidal orientation of the liquid crystal molecules creates a quasi-sinusoidal phase grating (PG) in the DDLC cell. Depending on the incident light pattern, Trans to Cis photoisomerization of the dye molecules affects the orientation of the liquid crystal molecules. To do so, an amplitude fork grating (FG) is used as a mask, and its pattern is stored in the cell by a pattern printing method as the PG. One of the particular features of the stored grating in the cell is its capability in the diffraction efficiency controlled by the applied electric field. The results show, based on the central defect in the FG pattern, the diffracted probe beam in different orders is optical vortices. As a new technique, this type of stored pattern acts like an amplitude grating but according to the results, its structure is in fact a PG. This technique leads to the vortex beam switching capability by applying an electric field to the cell. The results show that by applying 22 V, all the diffraction orders vanish. Meanwhile, the vortex beams reappear by removing the applied voltage. The diffraction efficiency of the vortex beams as well as its generation dependency on the polarization of the incident beam studied. The maximum efficiency of the first diffraction order for linear polarized incident beam was obtained at 0 V, about 8%. Based on the presented theory, a simulation has been done which shows the Cis form of the dye molecules has been able to change the angle of LC molecules on average about 12.7°. The study of diffracted beam profiles proves that they are electrically controllable vortex beams.

Technical report: an online international weight control registry to inform precision approaches to healthy weight management.

BACKGROUND: Personalizing approaches to prevention and treatment of obesity will be a crucial aspect of precision health initiatives. However, in considering individual susceptibility to obesity, much remains to be learned about how to support healthy weight management in different population subgroups, environments and geographical locations. SUBJECTS/METHODS: The International Weight Control Registry (IWCR) has been launched to facilitate a deeper and broader understanding of the spectrum of factors contributing to success and challenges in weight loss and weight loss maintenance in individuals and across population groups. The IWCR registry aims to recruit, enroll and follow a diverse cohort of adults with varying rates of success in weight management. Data collection methods include questionnaires of demographic variables, weight history, and behavioral, cultural, economic, psychological, and environmental domains. A subset of participants will provide objective measures of physical activity, weight, and body composition along with detailed reports of dietary intake. Lastly, participants will be able to provide qualitative information in an unstructured format on additional topics they feel are relevant, and environmental data will be obtained from public sources based on participant zip code. CONCLUSIONS: The IWCR will be a resource for researchers to inform improvements in interventions for weight loss and weight loss maintenance in different countries, and to examine environmental and policy-level factors that affect weight management in different population groups. This large scale, multi-level approach aims to inform efforts to reduce the prevalence of obesity worldwide and its associated comorbidities and economic impacts. TRIAL REGISTRATION: NCT04907396 (clinicaltrials.gov) sponsor SB Roberts; Tufts University IRB #13075.

The safety of continued low dose aspirin therapy during Complete Supine Percutaneous Nephrolithotomy (csPCNL).

OBJECTIVE: Using anticoagulants and antiplatelet drugs in patients with cardiovascular and medical comorbidities is prevalent. Because of hyper vascular nature of kidney, physicians tend to stop using aspirin before percutaneous nephrolithotomy (PCNL). We have shown the effects of remaining on low dose aspirin in complete supine PCNL (csPCNL). MATERIAL AND METHODS: The records of 643 patients who underwent csPCNL between 2012 and 2018 were analyzed. Surgical outcomes and complications of patients who were on aspirin therapy and continued it daily (group A) were compared with those not taking aspirin (group B). RESULTS: Of the 643 csPCNLs, 40 (6%) were performed in patients of group A and the rest of 603 (94%) cases were in group B. The differences between the mean age of groups were statistically significant (60.08±9.45, group A and 48.66±12.32, group B) (P<0.001). Thirty-nine (97.5%) of patients in group A and 548 (90.9%) of group B were stone free by the end of the study which was not statistically significant (P=0.118). The mean operative time between groups A and B (43.20±21.37 and 44.83±16.83, respectively) was not considered significant (P=0.561). There was also no significant difference between 2 groups in any types of complications. Multivariate analysis showed that, perioperative aspirin use was not a significant predictor of transfusion, Hb drop, operative time and other complications. CONCLUSIONS: Remaining on aspirin does not increase the risk of bleeding, transfusionand other complications. Consequently, continuing aspirin prioperatively in csPCNL appears safe. There is no fear for continuing aspirin in csPCNL.

The Mediterranean diet increases glucagon-like peptide 1 and oxyntomodulin compared with a vegetarian diet in patients with type 2 diabetes: A randomized controlled cross-over trial.

AIM: To compare a Mediterranean diet (MED) with a high-fibre vegetarian diet (HFV) in terms of hunger-satiety perception through post-prandial assessment of appetite-related hormones glucagon-like peptide 1 (GLP-1) and oxyntomodulin, as well as self-rated visual analogue scale (VAS) quantification, in overweight/obese subjects with type 2 diabetes (T2D). MATERIALS AND METHODS: Twelve T2D subjects (Male to female ratio = 7:5), mean age 63 ± 8.5 years, were enrolled in a randomized, controlled, crossover study. Participants consumed an MED meal as well as an isocaloric meal rich in complex carbohydrate as well as an isocaloric MED meal in two different visits with a 1-week washout period between the two visits. Appetite ratings, glucose/insulin, and gastrointestinal hormone concentrations were measured at fasting and every 30' until 210' following meal consumption. RESULTS: GLP-1 and oxyntomodulin levels were significantly higher following MED meal compared with HFV meals (210' area under the curve, p < 0.022 and p < 0.023, respectively). Both MED and HFV meal resulted in a biphasic pattern of GLP-1 and oxyntomodulin, although MED meal was related to a delayed, significantly higher second GLP-1 peak at 150' compared with that of HFV meal (p < 0.05). MED meal was related to lower glucose profile compared with HFV meal (p < 0.039), whereas we did not observe significant changes in terms of self-reported VAS scores and insulin trend. CONCLUSIONS: In T2D overweight/obese subjects, an MED meal is more effective than a HFV meal in terms of post-prandial plasma glucose homoeostasis and GLP-1 and oxyntomodulin release. These changes were not confirmed by VAS appetite self-assessment over a 210' period.

Food security and the nutritional status of children in foster care: new horizons in the protection of a fragile population.

BACKGROUND: The nutritional status of foster children, the quality of daily menus in group homes and the Food Security inside these organizations have been poorly studied and this study means to investigate them. METHODS: A sample of 125 children, ranging in age from 0-17 years, among seven group homes (group A) was compared with 121 children of the general population we (group B). To evaluate nutritional status, BMI percentiles were used. Mean percentiles of both groups were compared through statistical analysis. Both nutritional and caloric daily distributions in each organization were obtained using the 24-hour recall method. A specific questionnaire was administered to evaluate Food Security. RESULTS: From the analysis of mean BMI-for-age (or height-for-length) percentiles, did not observe statistically significant differences between group A and group B. The average daily nutrient and calorie distribution in group homes proves to be nearly optimal with the exception of a slight excess in proteins and a slight deficiency in PUFAs. Moreover, a low intake of iron and calcium was revealed. All organizations obtained a "High Food Security" profile. CONCLUSIONS: Nutritional conditions of foster children are no worse than that of children of the general population. Foster care provides the necessary conditions to support their growth.

An Event-Driven AR-Process Model for EEG-Based BCIs With Rapid Trial Sequences.

Electroencephalography (EEG) is an effective non-invasive measurement method to infer user intent in brain-computer interface (BCI) systems for control and communication, however, these systems often lack sufficient accuracy and speed due to low separability of class-conditional EEG feature distributions. Many factors impact system performance, including inadequate training datasets and models' ignorance of the temporal dependency of brain responses to serial stimuli. Here, we propose a signal model for event-related responses in the EEG evoked with a rapid sequence of stimuli in BCI applications. The model describes the EEG as a superposition of impulse responses time-locked to stimuli corrupted with an autoregressive noise process. The performance of the signal model is assessed in the context of RSVP keyboard, a language-model-assisted EEG-based BCI for typing. EEG data obtained for model calibration from 10 healthy participants are used to fit and compare two models: the proposed sequence-based EEG model and the trial-based feature-class-conditional distribution model that ignores temporal dependencies, which has been used in the previous work. The simulation studies indicate that the earlier model that ignores temporal dependencies may be causing drastic reductions in achievable information transfer rate (ITR). Furthermore, the proposed model, with better regularization, may achieve improved accuracy with fewer calibration data samples, potentially helping to reduce calibration time. Specifically, results show an average 8.6% increase in (cross-validated) calibration AUC for a single channel of EEG, and 54% increase in the ITR in a typing task.

A Parametric EEG Signal Model for BCIs with Rapid-Trial Sequences.

Electroencephalogram (EEG) signals have been shown very effective for inferring user intents in brain-computer interface (BCI) applications. However, existing EEG-based BCIs, in many cases, lack sufficient performance due to utilizing classifiers that operate on EEG signals induced by individual trials. While many factors influence the classification performance, an important aspect that is often ignored is the temporal dependency of these trial-EEG signals, in some cases impacted by interference of brain responses to consecutive target and non-target trials. In this study, the EEG signals are analyzed in a parametric sequence-based fashion, which considers all trials that induce brain responses in a rapid-sequence fashion, including a mixture of consecutive target and non-target trials. EEG signals are described as a linear combination of time-shifted cortical source activities plus measurement noise. Using a superposition of time invariant with an auto-regressive (AR) process, EEG signals are treated as a linear combination of a stationary Gaussian process and time-locked impulse responses to the stimulus (input events) onsets. The model performance is assessed in the framework of a rapid serial visualization presentation (RSVP) based typing task for three healthy subjects across two sessions. Signal modeling in this fashion yields promising performance outcomes considering a single EEG channel to estimate the user intent.

Optimal Query Selection Using Multi-Armed Bandits.

Query selection for latent variable estimation is conventionally performed by opting for observations with low noise or optimizing information theoretic objectives related to reducing the level of estimated uncertainty based on the current best estimate. In these approaches, typically the system makes a decision by leveraging the current available information about the state. However, trusting the current best estimate results in poor query selection when truth is far from the current estimate, and this negatively impacts the speed and accuracy of the latent variable estimation procedure. We introduce a novel sequential adaptive action value function for query selection using the multi-armed bandit (MAB) framework which allows us to find a tractable solution. For this adaptive-sequential query selection method, we analytically show: (i) performance improvement in the query selection for a dynamical system, (ii) the conditions where the model outperforms competitors. We also present favorable empirical assessments of the performance for this method, compared to alternative methods, both using Monte Carlo simulations and human-in-the-loop experiments with a brain computer interface (BCI) typing system where the language model provides the prior information.

EEG-guided robotic mirror therapy system for lower limb rehabilitation.

Lower extremity function recovery is one of the most important goals in stroke rehabilitation. Many paradigms and technologies have been introduced for the lower limb rehabilitation over the past decades, but their outcomes indicate a need to develop a complementary approach. One attempt to accomplish a better functional recovery is to combine bottom-up and top-down approaches by means of brain-computer interfaces (BCIs). In this study, a BCI-controlled robotic mirror therapy system is proposed for lower limb recovery following stroke. An experimental paradigm including four states is introduced to combine robotic training (bottom-up) and mirror therapy (top-down) approaches. A BCI system is presented to classify the electroencephalography (EEG) evidence. In addition, a probabilistic model is presented to assist patients in transition across the experiment states based on their intent. To demonstrate the feasibility of the system, both offline and online analyses are performed for five healthy subjects. The experiment results show a promising performance for the system, with average accuracy of 94% in offline and 75% in online sessions.

Exacerbation of allopurinol-induced drug reaction with eosinophilia and systemic symptoms by teicoplanin: A case report.

WHAT IS KNOWN AND OBJECTIVE: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially life-threatening drug reaction. Allopurinol is one of the most frequently reported drugs accounting for DRESS syndrome development. In contrast to allopurinol, DRESS syndrome induced by teicoplanin has not been reported frequently. CASE DESCRIPTION: A 50-year-old woman was admitted to receive FLAG chemotherapy regimen (fludarabine, cytarabine (high-dose Ara-C), granulocyte colony-stimulating factor) for relapsed acute lymphoblastic leukaemia (ALL) treatment. Allopurinol was initiated at a dose of 300 mg per day 48 hours before chemotherapy regimen initiation, for tumour lysis syndrome prophylaxis. Seven days after allopurinol initiation, the patient presented with fever, dyspnoea, shortening of breath, facial oedema, generalized pruritus, erythema and macular rash affecting the face, abdomen, trunk, upper and lower limbs and an elevation in hepatic enzymes. Allopurinol was immediately discontinued and intravenous hydrocortisone was started concomitantly alongside other supportive measures. About 72 hours later, pruritus, erythema and rash were ameliorated and abnormalities in liver tests were improved. Afterwards, teicoplanin administration led to severe deterioration of pruritus, erythema and rash; subsequently, serum alanine aminotransferase increased again and episodes of worsening dyspnea occurred. Signs of hypersensitivity reaction were reduced by discontinuation of teicoplanin and supportive care. WHAT IS NEW AND CONCLUSION: We report a case of allopurinol-induced DRESS syndrome, which was exacerbated by administration of teicoplanin. It can be suggested that the administration of drugs with high possibility of hypersensitivity reactions should be avoided during the acute phase of DRESS syndrome.

Suppressor of cytokine signaling 1-dependent regulation of the expression and oncogenic functions of p21(CIP1/WAF1) in the liver.

The SOCS1 gene coding for suppressor of cytokine signaling 1 is frequently repressed in hepatocellular carcinoma (HCC), and hence SOCS1 is considered a tumor suppressor in the liver. However, the tumor-suppressor mechanisms of SOCS1 are not yet well understood. SOCS1 is known to inhibit pro-inflammatory cytokine production and signaling and to promote activation of the p53 tumor suppressor. However, we observed that SOCS1-deficient mice developed numerous and large liver tumor nodules following treatment with the hepatocarcinogen diethylnitrosamine (DEN) without showing increased interleukin-6 production or activation of p53. On the other hand, the livers of DEN-treated Socs1-null mice showed elevated levels of p21(CIP1/WAF1) protein (p21). Even though p21 generally functions as a tumor suppressor, paradoxically many cancers, including HCC, are known to express elevated levels of p21 that correlate with poor prognosis. We observed elevated p21 expression also in the regenerating livers of SOCS1-deficient mice and in cisplatin-treated Socs1-null hepatocytes, wherein the p21 protein showed increased stability. We show that SOCS1 interacts with p21 and promotes its ubiquitination and proteasomal degradation. Besides, the DEN-treated livers of Socs1-null mice showed increased nuclear and cytosolic p21 staining, and the latter was associated with growth factor-induced, phosphatidylinositol 3-kinase-dependent phosphorylation of p21 in SOCS1-deficient hepatocytes. Cytosolic p21 is often associated with malignancy and chemo-resistance in many cancers. Accordingly, SOCS1-deficient hepatocytes showed increased resistance to apoptosis that was reversed by shRNA-mediated p21 knockdown. In the regenerating livers of Socs1-null mice, increased p21 expression coincided with elevated cyclinD levels. Correspondingly, SOCS1-deficient hepatocytes showed increased proliferation to growth factor stimulation that was reversed by p21 knockdown. Overall, our findings indicate that the tumor-suppressor functions of SOCS1 in the liver could be mediated, at least partly, via regulation of the expression, stability and subcellular distribution of p21 and its paradoxical oncogenic functions, namely, resistance to apoptosis and increased proliferation.

Regulation of MET receptor tyrosine kinase signaling by suppressor of cytokine signaling 1 in hepatocellular carcinoma.

Suppressor of cytokine signaling 1 (SOCS1) is considered as a tumor suppressor protein in hepatocellular carcinoma (HCC), but the underlying mechanisms remain unclear. Previously, we have shown that SOCS1-deficient hepatocytes displayed increased responsiveness to hepatocyte growth factor (HGF) due to enhanced signaling via the MET receptor tyrosine kinase. As aberrant MET activation occurs in many tumors including HCC, here we elucidated the mechanisms of SOCS1-mediated regulation. SOCS1 attenuated HGF-induced proliferation of human and mouse HCC cell lines and their growth as tumors in NOD.scid.gamma mice. Tumors formed by SOCS1 expressing HCC cells showed significantly reduced MET expression, indicating that SOCS1 not only attenuates MET signaling but also regulates MET expression. Mechanistically, SOCS1 interacted with MET via the Src homology 2 domain and this interaction was promoted by MET tyrosine kinase activity. The SOCS1-mediated reduction in MET expression does not require the juxtamembrane Y1003 residue implicated in Cbl-mediated downmodulation. Moreover, the proteasome inhibitor MG-132, but not the inhibitors of lysosomal degradation bafilomycin and chloroquine, reversed the SOCS1-mediated reduction in MET expression, indicating that this process is distinct from Cbl-mediated downmodulation. Accordingly, SOCS1 promoted polyubiquitination of MET via K48-dependent but not K63-mediated ubiquitin chain elongation. Furthermore, siRNA-mediated downmodulation of Cbl did not abolish SOCS1-mediated reduction in MET expression in HCC cells. SOCS1-dependent ubiquitination of endogenous MET receptor occurred rapidly following HGF stimulation in HCC cells, leading to proteasomal degradation of phosphorylated MET receptor. These findings indicate that SOCS1 mediates its tumor suppressor functions, at least partly, by binding to MET and interfering with downstream signaling pathways as well as by promoting the turnover of the activated MET receptor. We propose that loss of this control mechanism due to epigenetic repression of SOCS1 could contribute to oncogenic MET signaling in HCC and other cancers, and that MET inhibitors might be useful in treating these patients.

The effect of dietary intake changes on nutritional status in acute leukaemia patients after first induction chemotherapy.

This study aimed to evaluate how changes in dietary intake among acute lymphoblastic and acute myeloid leukaemia (ALL and AML) patients affect nutritional status after the first induction chemotherapy. Dietary intake was assessed using 24-h recall and a 136-item food frequency questionnaire. Nutritional status was assessed by Patients Subjective Global Assessment questionnaire before starting induction therapy and again after 1 month. All newly diagnosed acute leukaemia patients aged 15 years old and older who attended three referral hospitals for initiation of their induction chemotherapy were included in the sample selection provided that they gave informed consent. A total of 30 AML and 33 ALL patients participated in the study. Dietary intake and nutritional status worsened after the chemotherapy treatment. Dietary intake in terms of macronutrients, micronutrients, food variety and diet diversity score changed significantly after the induction chemotherapy. No significant relationship was found between the changes in dietary indices and nutritional status. Chemotherapy-related side effects as an additional factor to cancer itself could affect dietary intake of leukaemia patients. The effectiveness of an early assessment of nutritional status and dietary intake should be further investigated in order to deter further deterioration.

The effect of the macrobiotic Ma-Pi 2 diet vs. the recommended diet in the management of type 2 diabetes: the randomized controlled MADIAB trial.

BACKGROUND: Diet is an important component of type 2 diabetes therapy. Low adherence to current therapeutic diets points out to the need for alternative dietary approaches. This study evaluated the effect of a different dietary approach, the macrobiotic Ma-Pi 2 diet, and compared it with standard diets recommended for patients with type 2 diabetes. METHODS: A randomized, controlled, open-label, 21-day trial was undertaken in patients with type 2 diabetes comparing the Ma-Pi 2 diet with standard (control) diet recommended by professional societies for treatment of type 2 diabetes. Changes in fasting blood glucose (FBG) and post-prandial blood glucose (PPBG) were primary outcomes. HbA1c, insulin resistance (IR), lipid panel and anthropometrics were secondary outcomes. RESULTS: After correcting for age, gender, BMI at baseline, and physical activity, there was a significantly greater reduction in the primary outcomes FBG (95% CI: 1.79; 13.46) and PPBG (95% CI: 5.39; 31.44) in those patients receiving the Ma-Pi 2 diet compared with those receiving the control diet. Statistically significantly greater reductions in the secondary outcomes, HbA1c (95% CI: 1.28; 5.46), insulin resistance, total cholesterol, LDL cholesterol and LDL/HDL ratio, BMI, body weight, waist and hip circumference were also found in the Ma-Pi 2 diet group compared with the control diet group. The latter group had a significantly greater reduction of triglycerides compared with the Ma-Pi 2 diet group. CONCLUSIONS: Intervention with a short-term Ma-Pi 2 diet resulted in significantly greater improvements in metabolic control in patients with type 2 diabetes compared with intervention with standard diets recommended for these patients. TRIAL REGISTRATION: Current Controlled Trials ISRCTN10467793.

FAM20A mutations associated with enamel renal syndrome.

We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The missense mutation is notable because D(403) is strictly conserved among FAM20A homologues, and the corresponding defect in FAM20C caused osteosclerotic bone dysplasia and a loss of kinase activity. The proband at age 12 yrs tested negative for nephrocalcinosis. The proband and her affected father in Family 2 were homozygous for a single nucleotide deletion that altered a splice junction in Intron 10 (g.66622del; c.1361+4del). Minigene analyses demonstrated that this alteration precluded normal splicing. Immunohistochemistry (IHC) of mouse maxillary first molars localized FAM20A in secretory-stage ameloblasts, in odontoblasts, and in the eruption pathway. IHC of kidneys localized FAM20A in the renal tubules. We conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis.

Nutritional status and quality of life in patients with acute leukaemia prior to and after induction chemotherapy in three hospitals in Tehran, Iran: a prospective study.

BACKGROUND: The primary objective of the present study was to assess changes in the nutritional status and quality of life in acute leukaemia patients, aged ≥15 years, who had undergone induction chemotherapy. METHODS: A preliminary and post-induction chemotherapy assessment of patients' nutritional status, quality of life, sociodemographic status and medical characteristics was conducted using the Patient Generated Subjective Global Assessment (PG-SGA) and the European Organization for Research and Treatment of Cancer quality of life (QOL-C30, version 3) questionnaires. The PG-SGA is a clinical nutrition assessment tool used to evaluate oncology patients. Patients with newly-diagnosed acute leukaemia, aged ≥15 years, at three hospitals in Tehran (from May 2009 to March 2010), were recruited for the present study. RESULTS: Sixty-three acute leukaemia patients [65% men and 35% women with a mean (SD) age of 33 (15.4) years] participated in the present study. A total of 19.4% were found to be malnourished prior to chemotherapy. After chemotherapy, 76.1% of patients were considered moderately malnourished, whereas 6.3% were severely malnourished. After induction chemotherapy, both the nutritional status and quality of life deteriorated in the majority of patients, as demonstrated by a paired t-test. CONCLUSIONS: A deteriorated nutritional status and quality of life was the result of the side effects posed by induction chemotherapy in the patients investigated in the present study. These findings highlight the need for an appropriate nutritional support programme to improve the nutritional status and quality of life in patients with leukaemia undergoing chemotherapy.

Association between TNF-α promoter G-308A and G-238A polymorphisms and obesity.

Tumor necrosis factor-α (TNF-α), an adipokine, is produced in adipocytes, and the elevation of its levels has been linked to obesity and insulin resistance in some population. In this study the relationship between TNF-α promoter gene polymorphism and obesity in an Iranian population has been studied. Subjects were randomly selected from Tehran Cohort Lipid and Glucose Study. Adult participants placed in three groups according to their body mass index (BMI): BMI < 25, 25 ≤ BMI < 30, BMI ≥ 30 and under-18 subjects placed in two groups, under 85th percentile BMI and above 85th percentile. Finally, 244 persons were selected for G-308A and G-238A polymorphisms analysis. The FBS, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglyceride, cholesterol levels and blood pressure and HOMA of all subjects were measured. The polymorphism -308 and -238 were revealed by restriction fragment length polymorphism (RFLP; NCOI and MSPI) after the promoter site was amplified by PCR. The allele frequency of TNF-α polymorphism was in the Hardy-Weinberg equilibrium. There was no relation between BMI and the frequency of this allele. The fact that there is no association between G-308A and G-238A TNF-α promoter polymorphisms and obesity probably shows that it is not an important risk factor for obesity and consequently for cardiovascular disease.