Need of nutritional assessment and monitoring in a population with acquired brain injury: an analytical cross-sectional study.

INTRODUCTION: Patients with acquired brain injury (ABI) may be at an increased risk of malnutrition due to the pathophysiology of their condition, which can affect their anthropometrical profile and therefore their quality of life. The present study analyzes the anthropometrical profile of these individuals, describes their dietary habits and nutrients intake and identifies the related risk factors influencing health status and quality of life. METHODS: Twenty-three volunteers with ABI from the province of Granada (Spain) were recruited for this cross-sectional study. Nutritional assessment was quantitatively and qualitatively performed using a 72-h dietary record and a food frequency questionnaire, respectively. Body composition parameters were evaluated by bioelectrical impedance. RESULTS: Low intakes of minerals related to bone health, extra virgin olive oil (EVOO) and fruits were reported. Moreover, women presented a poorer anthropometrical profile compared to men. With reference to age, a significant inverse correlation was observed with sarcopenic obesity, appendicular muscle mass index and Vitamin B6 intake [(r = -0.617, p < 0.01), (r = -0.475, p < 0.05) and (r = -0.498, p < 0.05), respectively]. Intake of EVOO was inversely correlated to body mass index (r = -0.767, p < 0.001). Lastly, a direct correlation was observed between the consumption of alcohol and sweets and snacks (r = 0.608, p < 0.01). CONCLUSION: The main findings support the existence of poor dietary quality and anthropometrical profile. Interdisciplinary team assessment would be beneficial to enhance the quality of life and attenuate the development of comorbidities in subjects with ABI.

Imbalanced dietary patterns, anthropometric, and body composition profiles amongst adults with Down syndrome.

Introduction: We aimed to analyze the anthropometric and body composition profiles of Down syndrome (DS) adults; to describe their dietary habits, nutrient intake, and physical activity patterns; and to identify the related risk factors which may influence their health status and quality of life.Methods: A cross-sectional study was conducted on a cohort of 23 DS adults (45% women) aged 21-44 years. Anthropometry and body composition were assessed by bioelectrical impedance. Dietary nutrient intake was assessed quantitatively using a 72-h recall. A food frequency questionnaire and the prevention with Mediterranean diet-PREDIMED questionnaire were used for qualitative rating.Results: Higher fat mass (FM) and lower lean mass (LM), bone mass (BM), and waist to hip ratio (WHR) were observed in women compared to men. LM and BM decreased, and body mass index (BMI), FM, and WHR increased with aging (all P < 0.05). Vitamin D and iodine intakes were not met by 70% and 60% of the studied participants, respectively. A total of 82% of the participants consumed less than 5 portions of fruits and vegetables per day and overconsumed food groups such as sweets and snacks and red meat (> 2 times per week). Protein intake showed a significant positive correlation with height (r = 0.489, P < 0.05), whereas fat intake was positively correlated with sweets and snacks (r = 0.521, P < 0.05).Conclusion: The present findings support the existence of poor anthropometric and body composition profiles, and diet quality, underscoring the need for an interdisciplinary team assessment to enhance health and quality of life in DS adults.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update disease-causing mutations and current clinical knowledge of the disease. MATERIALS AND METHODS: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. RESULTS: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. CONCLUSIONS: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.

Breastfeeding during the first 6 months of life, adiposity rebound and overweight/obesity at 8 years of age.

BACKGROUND: The question of whether breastfeeding protects the child from obesity is a still debated issue; however, the relationship between early adiposity rebound and higher risk of obesity is well known. This study was aimed at evaluating whether breastfeeding (without formula supplement) during the first 6 months of life delays the time of adiposity rebound and consequently reduces the rates of obesity at the age of 8. METHODS: This retrospective cohort study included 1812 children born in Gran Canaria in 2004, with follow-up until they were 8 years of age. Anthropometrical data had been taken during routine visits to the doctor and were extracted from medical record databases. Only children with breastfeeding for the first 6 months of life (173 children) and children without breastfeeding (192 children) were included. Children with mixed feeding and children whose data were not available were excluded. RESULTS: No body mass index (BMI) differences were found between children with breastfeeding (17.7) or without breastfeeding (17.3) during the first 6 months of life. The percentages of children with normal weight, overweight and obesity were similar in both groups, as well as the age of adiposity rebound breastfeeding 3.61 years; formula 3.64 years). Early adiposity rebound was associated with increased BMI at the age of 8, both in male and female children. CONCLUSIONS: Breastfeeding during the first 6 months of life was not demonstrated to delay the age of the adiposity rebound, in our study.

Effect of Zinc Intake on Growth in Infants: A Meta-analysis.

A systematic review and meta-analysis of available randomized controlled trials (RCTs) was conducted to evaluate the effect of zinc (Zn) intake on growth in infants. Out of 5500 studies identified through electronic searches and reference lists, 19 RCTs were selected after applying the exclusion/inclusion criteria. The influence of Zn intake on growth was considered in the overall meta-analysis. Other variables were also taken into account as possible effect modifiers: doses of Zn intake, intervention duration, nutritional status, and risk of bias. From each select growth study, final measures of weight, length, mid upper arm circumference (MUAC), head circumference, weight for age z-score (WAZ), length for age z-score (LAZ), and weight for length z-score (WLZ) were assessed. Pooled ß and 95% confidence interval (CI) were calculated. Additionally, we carried out a sensitivity analysis. Zn intake was not associated with weight, length, MUAC, head circumference, and LAZ in the pooled analyses. However, Zn intake had a positive and statistically effect on WAZ (ß = 0.06; 95%CI 0.02 to 0.10) and WLZ (ß = 0.05; 95%CI 0.01 to 0.08). The dose-response relationship between Zn intake and these parameters indicated that a doubling of Zn intake increased WAZ and WLZ by approximately 4%. Substantial heterogeneity was present only in length analyses (I(2) = 45%; p = 0.03). Zn intake was positively associated with length values at short time (four to 20 weeks) (ß = 0.01; CI 95% 0 to 0.02) and at medium doses of Zn (4.1 to 8 mg/day) (ß = 0.003; CI 95% 0 to 0.01). Nevertheless, the effect magnitude was small. Our results indicate that Zn intake increases growth parameters of infants. Nonetheless, interpretation of these results should be carefully considered.

Second-trimester fetal aberrant right subclavian artery: original study, systematic review and meta-analysis of performance in detection of Down syndrome.

OBJECTIVES: First, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the feasibility of ultrasound to visualize ARSA in the three planes. Finally, to carry out a systematic review of the literature on the performance of second-trimester ARSA to identify fetuses with Down syndrome. METHODS: ARSA was assessed by ultrasound in the axial plane and confirmed in the longitudinal and coronal planes during the second half of pregnancy in women attending our unit (from February 2011 to December 2012). A search of diagnostic tests for the assessment of ARSA was carried out in international databases. Relevant studies were subjected to a critical reading, and meta-analysis was performed with Meta-DiSc. RESULTS: Of the 8781 fetuses in our population (mean gestational age: 24 ± 5.4 weeks), 22 had Down syndrome. ARSA was detected in the axial view in 60 cases (0.7%) and confirmed in the coronal view in 96.7% and in the longitudinal view in 6.7% (P < 0.001). Seven cases with ARSA had Down syndrome and all were in the non-isolated-ARSA group. The estimates of positive likelihood ratio (LR) were 0 for isolated ARSA and 199 (95% CI, 88.9-445.2) for non-isolated ARSA. In the systematic review, six studies were selected for quantitative synthesis. The pooled estimates of positive and negative LRs for global ARSA were, respectively, 35.3 (95% CI, 24.4-51.1) and 0.75 (95% CI, 0.64-0.87). For isolated ARSA, the positive and negative LRs were 0 (95% CI, 0.0-14.7) and 0.98 (95% CI, 0.94-1.02), respectively. CONCLUSIONS: The prevalence of ARSA seems close to 1%. The coronal plane is the most suitable for its confirmation after detection in the axial plane. Detection of isolated or non-isolated ARSA should guide decisions about karyotyping given that isolated ARSA shows a weak association with Down syndrome.

Study of nsLTPs in Lotus japonicus genome reveal a specific epidermal cell member (LjLTP10) regulated by drought stress in aerial organs with a putative role in cutin formation.

The cuticle is the first defense against pathogens and the second way water is lost in plants. Hydrophobic layers covering aerial plant organs from primary stages of development form cuticle, including major classes of aliphatic wax components and cutin. Extensive research has been conducted to understand cuticle formation mechanisms in plants. However, many questions remain unresolved in the transport of lipid components to form cuticle. Database studies of the Lotus japonicus genome have revealed the presence of 24 sequences classified as putative non-specific lipid transfer proteins (nsLTPs), which were classified in seven groups; four groups were selected because of their expression in aerial organs. LjLTP8 forms a cluster with DIR1 in Arabidopsis thaliana while LjLTP6, LjLTP9, and LjLTP10 were grouped as type I LTPs. In silico studies showed a high level of structural conservation, and substrate affinity studies revealed palmitoyl-CoA as the most likely ligand for these LTPs, although the Lyso-Myristoyl Phosphatidyl Choline, Lyso-myristoyl phosphatidyl glycerol, and Lyso-stearyl phosphatidyl choline ligands also showed a high affinity with the proteins. The LjLTP6 and LjLTP10 genes were expressed in both the stems and the leaves under normal conditions and were highly induced during drought stress. LjLTP10 was the most induced gene in shoots during drought. The gene was only expressed in the epidermal cells of stems, primordial leaves, and young leaflets. LjLTP10 was positively regulated by MeJA but repressed by abscisic acid (ABA), ethylene, and H2O2, while LjLTP6 was weakly induced by MeJA, repressed by H2O2, and not affected by ABA and ethylene. We suggest that LjLTP10 is involved in plant development of stem and leaf cuticle, but also in acclimation to tolerate drought stress in L. japonicus.

Numerical aberrations of chromosome 17 and TP53 in brain metastases derived from breast cancer.

Breast cancer is the second most common origin of brain metastases, after lung cancer, and represents 14-20% of all cases. Abnormalities of chromosome 17 are important molecular genetic events in human breast cancer, and several oncogenes and tumor suppressor genes are located on this chromosome. In about half of all human cancers, the tumor suppressor gene TP53, located at 17p13.1, is either lost or mutated. Loss of p53 protein function influences not only cell cycle checkpoint controls and apoptosis, but also the regulation of other important stages of metastatic progression, such as cell migration and tissue invasion. The aim of our study was to identify numerical aberrations of chromosome 17 and TP53 in 5 subjects with brain metastasis from breast cancer using dual-color fluorescence in situ hybridization experiments. Deletion of TP53 was the most frequent alteration observed, suggesting that if this alteration is present in the primary tumors, breast tumors with loss of TP53 copies have a poorer prognosis and a higher chance for metastasis. If this is true, the analyses of chromosome 17 and TP53 in primary breast cancer could be important for predicting its metastatic potential.

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes. Within this region, we have identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations. One of these is predicted to inactivate this class of proteins and was found homozygous in 83% of 178 patients. A role of this gene in haemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism.

Physical workloads of the upper-extremity among workers of the Colombian flower industry.

BACKGROUND: We report the prevalence of symptoms of common upper-limb disorders and describe comprehensively mechanical workloads in a sample of workers of the Colombian flower industry. METHODS: One hundred fifty eight workers from eight flower manufacturers were assessed. Assessments included Borg self-reported exertion and working practices, medical examinations, video-based observations and kinematic and surface muscular activity assessments of upper-limb. RESULTS: Point prevalence of signs and symptoms of CTS, epicondylitis, and De Quervain's disease was 32.9%, 15.2%, and 13.3%, respectively. All tasks are executed on average in wrist extension, ulnar deviation, and high elbow flexion. Average median muscle activity across tasks ranged between 3.6% and 27.3%. Forearm muscles were mainly active. CONCLUSIONS: The occurrence of signs and symptoms of upper-extremity musculoskeletal disorders was high among the sample. The classification and cutting task showed the highest mechanical demands. Interventions in this working population are required and should be directed to allow for muscular rest on regular basis.

Scleritis and sclerokeratitis associated with IgA vasculitis: A case series.

PURPOSE: To describe a case series of scleritis associated with IgA vasculitis (IgAV) at a tertiary referral center. OBSERVATIONS: Three men with scleritis associated with IgAV were identified: one with anterior scleritis alone, one with anterior scleritis and peripheral ulcerative keratitis (sclerokeratitis), and one with anterior and posterior scleritis. Visual acuity was preserved except from the patient who developed posterior scleritis. Ocular pain was the main symptom at presentation. All patients had a previous history of palpable purpura, but only one was aware of his underlying IgAV. Laboratory results revealed microhematuria and proteinuria with normal urinary ß2 microglobulin levels and negative serum ANCAs. Skin or kidney biopsy demonstrated leukocytoclastic vasculitis or glomerulonephritis with dominant IgA immune deposits. CONCLUSIONS AND IMPORTANCE: Although uncommon, IgAV should be included in the differential diagnosis of anterior scleritis alone or associated with peripheral ulcerative keratitis or posterior scleritis, even in systemically asymptomatic patients. Urinalysis should not be underestimated in assessment of scleritis to detect early stages of glomerular disease. Scleritis may be the first manifestation whose study may lead to the diagnosis of IgAV. Multidisciplinary approach is necessary to prevent irreversible organ damage such as renal failure.

Epidemiologic trend of pediatric inflammatory bowel disease in Latin America: The Latin American Society for Pediatric Gastroenterology, Hepatology and Nutrition (LASPGHAN) Working Group.

INTRODUCTION AND AIMS: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005-2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.

Fetal thymus size in uncomplicated twin and singleton pregnancies.

OBJECTIVES: The main objective of this study was to determine whether fetal thymic measurements could be obtained in twins, with a secondary goal to determine whether thymic measurements from uncomplicated singleton and twin pregnancies are comparable. METHODS: The transverse diameter and perimeter of the fetal thymus were measured prospectively in 678 singleton and 56 twin pregnancies, and their relationships with gestational age were determined and compared between groups. RESULTS: Thymic measurements were possible in 757 (95.8%) of the 790 fetuses. Measurements were not possible in 19 of 678 singletons (2.8%) and in 14 of the 112 (12.5%) twins (P < 0.001). After construction of nomograms for the transverse diameter and perimeter of the fetal thymus, similar measurements were noted for singletons and twins. CONCLUSIONS: These results suggest that sonographic measurements of the thymus are feasible in twin pregnancies and that, in uncomplicated pregnancies, these measurements are similar to those noted for singletons. These findings pave the way for future studies aimed at determining the clinical utility of thymic measurements in complicated singleton and twin pregnancies.

Magnetic resonance as imaging diagnostic tool in prostate cancer: New evidences-The EAU Section of Uro-Technology position. / La resonancia magnética como herramienta para el diagnóstico del cáncer de próstata: nuevas evidencias y posicionamiento de la ESUT (EAU Section of Uro-Technology).

Prostate cancer (PCa) is the second leading cause of cancer-related mortality and the most frequently diagnosed male malignant disease among men. The manifestation of PCa ranges from indolent to highly aggressive disease and due to this high variation in PCa progression, the diagnosis and subsequent treatment planning can be challenging. The current diagnostic approach with PSA testing and digital rectal examination followed by transrectal ultrasound biopsies lack in both sensitivity and specificity in PCa detection and offers limited information about the aggressiveness and stage of the cancer. Scientific work supports the rapidly growing use of multiparametric magnetic resonance imaging as the most sensitive and specific imaging tool for detection, lesion characterization and staging of PCa. Therefore, we carried out an updated review of magnetic resonance imaging in the diagnostic PCa reviewing the latest papers published in PubMed.

Initial experience with SelectMDx® in the diagnosis of prostate cancer in a real-world evidence clinical practice setting. / Experiencia inicial del uso de SelectMDx® en el diagnóstico de cáncer de próstata en un entorno de práctica clínica habitual «real-world evidence¼.

INTRODUCTION: The use of biomarkers in the detection of prostate cancer (PC) can decrease overdiagnosis and overtreatment of non-significant PC. We analyze the usefulness and applicability of the SelectMDx® marker in a routine clinical practice setting. MATERIAL AND METHODS: Retrospective study of 48 patients evaluated by the SelectMDx® test between July 2017 and April 2019. Patients were stratified into two groups according to the risk estimated by the clinically significant CP test (CS-PC): <2% or 'very low risk', and >2%. Results were expressed based on previous prostate biopsy (PB) and multi-parametric magnetic resonance imaging (mpMRI) outcomes. RESULTS: Patients with negative PB and normal/doubtful mpMRI had <2% risk in 7/9 cases. Patients without PB and normal/doubtful mpMRI had <2% risk in 12/18 cases, and 2/6 cases with a >2% risk presented CS-PC. Of the 14 patients with no previous PB or mpMRI, 9 had <2% risk, and 2 cases were diagnosed with PC from the group of patients (5) with risk >2%. The number of patients in the remaining subgroups is too small to draw any conclusions. In all cases with pathological digital rectal examination, the test showed a >2% PC risk. CONCLUSION: SelectMDx® is a promising test for detecting patients with a very low risk of CS-PC, especially in patients with suspected PC, with or without negative PB, with normal/doubtful mpMRI. The presence of a pathological digital rectal examination may condition the result of the test.

Epidemiologic trend of pediatric inflammatory bowel disease in Latin America: The Latin American Society for Pediatric Gastroenterology, Hepatology and Nutrition (LASPGHAN) Working Group. / Tendencia epidemiológica de la enfermedad intestinal inflamatoria en pacientes pediátricos en América Latina: Grupo de Trabajo en Enfermedad Intestinal Inflamatoria, Sociedad Latinoamericana de Gastroenterología, Hepatología y Nutrición Pediátrica (SLAGHNP).

INTRODUCTION AND OBJECTIVES: The primary aim was to explore the epidemiologic trend of pediatric inflammatory bowel disease in Latin America, and the secondary aims were to obtain an overview of the diagnostic/therapeutic focus of the members of the LASPGHAN and examine the relation of case frequency to year, during the study period. MATERIALS AND METHODS: Latin American pediatric gastroenterologists participated in an online survey, conducted through the SurveyMonkey platform, that investigated the yearly frequency of new inflammatory bowel disease patients within the time frame of 2005 to 2016, their disease variety, the gastrointestinal segments affected, and the diagnostic and treatment methods utilized. The correlation of new case frequency with each study year was evaluated. RESULTS: A total of 607 patients were studied. The diagnoses were ulcerative colitis in 475 (78.3%) cases, Crohn's disease in 104 (17.1%), and inflammatory bowel disease D unclassified in 28 (4.6%). The trend in ulcerative colitis was a lineal increase in the frequency of new cases related to each study year, with a significant correlation coefficient. Pancolitis was found in 67.6% of the patients. The diagnostic methods included clinical data, endoscopy, and biopsies in more than 99% of the cases, and imaging studies were indicated selectively. Drug regimens were limited to 5-aminosalicylic acid derivatives, azathioprine, 6-mercaptopurine, infliximab, and adalimumab. CONCLUSIONS: Pediatric inflammatory bowel disease in Latin America appears to have increased during the years included in the study period, with a predominance of moderate or severe ulcerative colitis. That lineal trend suggests the predictive likelihood of a gradual increase in the coming years, with possible epidemiologic and clinical implications.

Iridium abundances across the ordovician-silurian stratotype.

Chemostratigraphic analyses in the Ordovician-Silurian boundary stratotype section, bracketing a major extinction event in the graptolitic shale section at Dob's Linn, Scotland, show persistently high iridium concentrations of 0.050 to 0.250 parts per billion. There is no iridiumn concentration spike in the boundary interval or elsewhere in the 13 graptolite zones examined encompassing about 20 million years. Iridium correlated with chromium, both elements showing a gradual decrease with time into the middle part of the Lower Silurian. The chromium-iridium ratio averages about 10(6). Paleogeographic and geologic reconstructions coupled with the occurrence of ophiolites and other deep crustal rocks in the source area suggest that the high iridium and chromium concentrations observed in the shales result from terrestrial erosion of exposed upper mantle ultramafic rocks rather than from a cataclysmic extraterrestrial event.

A search for iridium abundance anomalies at two late cambrian biomere boundaries in Western utah.

Iridium concentrations have been measured in samples taken across two Late Cambrian biomere boundaries (crisis zones) in search of evidence for possible elemental abundance anomalies similar to the one observed at the Cretaceous-Tertiary boundary. Sampling was performed in uplifted marine limestone deposits in the House Range of western Utah. Although the two trilobite-brachiopod extinction boundaries could be assigned to +/-4 millimeters of vertical section by laboratory examination of the rocks, only background amounts of iridium (2 x 10(-12) to 17 x 10(-12) gram per gram of whole rock) were observed.