Lower plasma melatonin levels in non-hypoxic premature newborns associated with neonatal pain.

We analyzed plasma melatonin levels in different groups of preterm newborns without hypoxia and their relationship with several perinatal variables like gestational age or neonatal pain. Prospective cohort study of preterm newborns (PTNB) without perinatal hypoxia, Apgar > 6 at 5 min, and oxygen needs on the third day of life. We compared melatonin levels at day 3 of life in different groups of non-hypoxic preterm infants (Student's t-tests, Mann-Whitney U, and chi2) and analyzed the relationship of melatonin with GA, birth weight, neonatal pain (Premature Infant Pain Profile (PIPP) scale), caffeine treatment, parenteral nutrition, or the development of free radical diseases (correlation study, linear regression) and factors associated with moderate/intense pain and free radical diseases (logistic regression analysis). Sixty-one preterm infants with gestational age (GA) of 30.7 ± 2.0 weeks with no oxygen requirements at day 3 of life were studied with plasma melatonin levels of 33.8 ± 12.01 pg/ml. Preterm infants weighing < 1250 g at birth had lower plasma melatonin levels (p = 0.05). Preterm infants with moderate or severe pain (PPIPP > 5) have lower melatonin levels (p = 0.01), and being preterm with PIPP > 5 is associated with lower plasma melatonin levels (p = 0.03). Being very preterm (GA < 32 GS), having low weight for gestational age (LWGA), receiving caffeine treatment, or requiring parenteral nutrition did not modify melatonin levels in non-hypoxic preterm infants (p = NS). Melatonin on day 3 of life in non-hypoxic preterm infants is not associated with later development of free radical diseases (BPD, sepsis, ROP, HIV, NEC). CONCLUSION: We observed that preterm infants with moderate to severe pain have lower melatonin levels. These findings are relevant because they reinforce the findings of other authors that melatonin supplementation decreases pain and oxidative stress in painful procedures in premature infants. Further studies are needed to evaluate whether melatonin could be used as an analgesic in painful procedures in preterm infants. TRIAL REGISTRATION: Trial registration was not required since this was an observational study. WHAT IS KNOWN: • Melatonin is a potent antioxidant and free radical scavenger in newborns under stress conditions: hypoxia, acidosis, hypotension, painful procedures, or parenteral nutrition. • Pain stimulates the production of melatonin. • Various studies conclude that melatonin administration decreases pain during the neonatal period. WHAT IS NEW: • Non-hypoxic preterm infants with moderate to severe pain (PIPP>5) have lower levels of melatonin. • Administration of caffeine and treatment with parenteral nutrition do not modify melatonin levels in non-hypoxic preterm infants.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects. In this enlarged collection, novelties include a wider range of cognitive dysfunction, with some individuals exhibiting normal development despite early psychomotor delay. Communication challenges, particularly in expressive language, are prevalent, necessitating alternative communication methods. Autistic traits, notably rigidity, are observed in the cohort. Also, worth highlighting are hearing loss, sleep disturbances, and endocrine anomalies, including growth deficiency. Cardiac defects, frequently severe, pose early-life complications. Facial features, including arched eyebrows, contribute to the distinct gestalt. A novel missense variant, p.(Arg653Leu), further underscores the complex relationship between germline TRAF7 variants and somatic changes linked to meningiomas. CONCLUSIONS: Our comprehensive analysis expands the phenotypic spectrum, emphasizing the need for oncological evaluations and proposing an evidence-based schedule for clinical management. This study contributes to a better understanding of TRAF7-related CAFDADD, offering insights for improved diagnosis, intervention, and patient care.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investigated ten cases with early-onset cerebellar involvement with and without ataxia by exome sequencing or by a targeted panel with 363 genes involved in ataxia or spastic paraplegia. Novel variants were investigated by in silico or experimental approaches. Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD. The remaining three cases deserve special attention; they harbour variants in MAST1, PI4KA and CLK2 genes. MAST1 is responsible for an ultrarare condition characterised by global developmental delay and cognitive decline; our index case added ataxia to the list of concomitant associated symptoms. PIK4A is mainly related to hypomyelinating leukodystrophy; our proband presented with pure spastic paraplegia and normal intellectual capacity. Finally, in a patient who suffers from mild ataxia with oculomotor apraxia, the de novo novel CLK2 c.1120T>C variant was found. The protein expression of the mutated protein was reduced, which may indicate instability that would affect its kinase activity.

Respiratory Center Function and Its Impact in Obesity Hypoventilation Syndrome Treatment.

INTRODUCTION: Patients with obesity hypoventilation syndrome (OHS) need treatment with positive pressure either with continuous (CPAP) or double pressure (NIV). The apnea-hypopnea index (AHI) is considered a key data for making therapeutic decisions. We hypothesized that HR may be an useful tool to establish different phenotypes and individualize treatment in patients with OHS. Our objective was to analyze the role of the respiratory center response to hypercapnia (HR) in the adequacy of positive airway pressure therapy. METHOD: We included subjects with OHS treated with CPAP or NIV according to AHI and baseline pCO2. We analyzed therapeutic effectiveness and treatment changes prioritizing CPAP if AHI>30/h. Therapy was considered adequate if it was effective after two years. HR was measured with the p0.1/pEtCO2 ratio and its capability to select therapy was analyzed. The statistical study was performed by means comparison (Student's t) and multivariate analysis (logistic regression). RESULTS: 67 subjects were included of 68(11) years old, 37 (55%) males, initially 45 (67%) treated with NIV and 22 (33%) with CPAP, one case was excluded and in 25 (38%) the treatment was changed. Finally, CPAP was adequate for 29 subjects (44%) and NIV for 37 (56%). The CPAP group showed AHI 57/h (24) and p0.1/pEtCO2 0.37cmH2O/mmHg (0.23), NIV group AHI 43/h (35) and p0.1/pEtCO2 0.24 (0.15) with p=0.049 and 0.006. In multivariate analysis, p0.1/pEtCO2 (p=0.033) and AHI>30 (p=0.001) were predictors of adequate therapy. CONCLUSION: Measuring the RH of the respiratory center helps to select the most appropriate treatment for patients with OHS.

Chorioamnionitis secondary to Ureaplasma parvum infection: a case report.

Objectives: Ureaplasma species are the most frequently isolated microorganisms in cases of spontaneous preterm labor, premature rupture of the membranes, or chorioamnionitis. Case presentation: A woman at 28+6 weeks of gestation with no apparent history of interest presented at the hospital with contractions. Upon suspicion of chorioamnionitis, the patient was admitted for a low segment transverse cesarean section, which was completed without any complications. The patient was discharged at 7 days. The newborn remained stable and showed no clinical signs of infection. However, on suspicion of chorioamnionitis, empirical treatment with intravenous ampicillin (2 g every 6 h) and gentamicin (5 mg/kg once daily) was initiated. Samples of pharyngeal/tonsillar, ear, and anal/rectal exudates were collected. At 24 h, all samples were positive for Ureaplasma parvum. Empirical treatment was suspended, and treatment with intravenous azithromycin was initiated (12 mg once daily). Endocervical and placental exudates were also positive for U. parvum. Fifty-two days after birth, the newborn was discharged. Conclusions: The relationship between Ureaplasma spp. colonization and perinatal disease seem to be clear. However, the high frequency of vaginal Ureaplasma spp. colonization and high rates of term labor among pregnant women with this colonization make further studies necessary.

Needs Assessment in Parents of Children Affected by Cancer: A Qualitative Perspective.

BACKGROUND: Childhood cancer is a "stressful experience" for parents in their role as caregivers. The aim of this study is to analyze the needs of a group of parents who have children diagnosed with cancer. The assessment looks at all areas of their daily life using a qualitative content analysis approach. METHODS: This study uses open questions designed to investigate the main problems faced by the parents of children with cancer. All the answers were analyzed using MAXQDA 20 software. The study was conducted according to the Consolidated Criteria for Reporting Qualitative Research (COREQ). RESULTS: The content analysis of the answers from 13 mothers and 7 fathers is presented. The main themes as priority areas of need were: "informal social support", "coping", "stressors/imbalances" and "health problems". Dissatisfaction with the support provided from the informal network was detected. Although the participants expressed active coping, they also exhibited helplessness, as well as concerns regarding possible sequelae and the impact of this situation on the family's economic/work context. Conciliation problems were a source of stress. All this is consistent with the participants suffering from a variety of health issues. CONCLUSIONS: the results show the effect of childhood cancer on different aspects of family life. They provide essential information for designing psychosocial interventions.

Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.

BACKGROUND AND OBJECTIVES: To investigate whether children receiving immunosuppressive therapies for neuroimmunologic disorders had (1) increased susceptibility to SARS-CoV2 infection or to develop more severe forms of COVID-19; (2) increased relapses or autoimmune complications if infected; and (3) changes in health care delivery during the pandemic. METHODS: Patients with and without immunosuppressive treatment were recruited to participate in a retrospective survey evaluating the period from March 14, 2020, to March 30, 2021. Demographics, clinical features, type of immunosuppressive treatment, suspected or confirmed COVID-19 in the patients or cohabitants, and changes in care delivery were recorded. RESULTS: One hundred fifty-three children were included: 84 (55%) female, median age 13 years (interquartile range [8-16] years), 79 (52%) on immunosuppressive treatment. COVID-19 was suspected or confirmed in 17 (11%) (all mild), with a frequency similar in patients with and without immunosuppressive treatment (11/79 [14%] vs 6/74 [8%], p = 0.3085). The frequency of neurologic relapses was similar in patients with (18%) and without (21%) COVID-19. Factors associated with COVID-19 included having cohabitants with COVID-19 (p < 0.001) and lower blood levels of vitamin D (p = 0.039). Return to face-to-face schooling or mask type did not influence the risk of infection, although 43(28%) children had contact with a classmate with COVID-19. Clinic visits changed from face to face to remote for 120 (79%) patients; 110 (92%) were satisfied with the change. DISCUSSION: In this cohort of children with neuroimmunologic disorders, the frequency of COVID-19 was low and not affected by immunosuppressive therapies. The main risk factors for developing COVID-19 were having cohabitants with COVID-19 and low vitamin D levels.

When Your Child Has Cancer: A Path-Analysis Model to Show the Relationships between Flourishing and Health in Parents of Children with Cancer.

BACKGROUND: Childhood cancer is a disease with a psychosocial impact on parents who experience health problems and distress. Their reactions depend on the relationship of multiple factors. The objective of this paper is to evaluate the interrelationships between flourishing and the variables linked to the health and wellbeing of parents of children with cancer. METHODS: Mothers/fathers of children with cancer participated in an exploratory study in response to a series of questionnaires. Likert-type scales were used to measure perceived health, wellbeing, flourishing, stress, coping, and social support. RESULTS: Out of a total of 94 children, 138 parents (60 men/78 women) are represented. Participants show physical symptoms and an unstable coping pattern. A path analysis model is presented. As to the goodness of adjustment of the statistics used, good results were obtained. Flourishing tends to coexist with wellbeing, while flourishing coexists negatively with symptoms. There is an indirect relationship between flourishing and poor health. There is a positive relationship between flourishing and coping, as well as between flourishing and satisfaction with the support received (especially from sons/daughters). This support was negatively related to the subjective health report. CONCLUSIONS: Flourishing is shown as a healthy coping strategy. The results can enrich the development of psychosocial interventions aimed at promoting adequate adaptation.

Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method.

BACKGROUND: Preterm children obtain worse scores in tests that evaluate visuospatial functions. Pascual's graphomotor test (PGMt) assesses maturity in copying drawings in childhood, quickly evaluating the graphomotor aptitude that is a partial aspect of non-verbal intelligence. AIMS: To evaluate visuospatial functions in preterm children compared to full-term children. To assess the capacity of the Pascual graphomotor test (PGMt) to detect visuospatial disorders more specifically than non-verbal intelligence quotient (IQ). STUDY DESIGN AND SUBJECTS: case and control study. CASES: preterm children between 5 and 11 years of age without cognitive delay; controls: full-term children with the same characteristics. For each child clinical history, neurological examination, language-free intelligence test Toni 2 (IQ) and Pascual's graphomotor test (PGMt) were carried out. RESULTS: 135 children were enrolled (59 cases vs. 79 controls). The mean age was 7.4 years. 55% were male. The mean gestational age of cases was 30.5 weeks with 34% extremely preterm. Cases obtained worse mean scores in both tests. The mean IQ scores were: cases 117.4, controls 125.0 (p = 0.004). The mean graphomotor quotient (GQ) scores were statistically and clinically significant (cases 76.8; controls 98.3, p = 0.001). Although we have found a positive correlation between IQ and GQ scores (cc = 0.31 p = 0.01), the differences found in the GQ between groups have been maintained regardless of the IQ in the multivariate analysis (GQ: cases 78.3 (SD 14.8), controls 98.3 (SD 12.5), p = 0.04). CONCLUSIONS: GQ is a useful tool for screening for visuospatial anomalies. GQ more specifically measures the visuoperceptive disorder regardless of non-verbal cognitive level.

Prevalence and associated factors of iron deficiency in Spanish children aged 1 to 11 years.

Iron deficiency (ID) is the most common nutritional deficiency affecting children worldwide. Most traditional laboratory parameters to assess ID can be altered by infections or other inflammatory states, including obesity. The aims of this study were to determine the prevalence of ID in healthy children and to analyse associated factors, avoiding potential confounding factors through the use of serum transferrin receptor (sTfR), reticulocyte haemoglobin content and sTfR/log ferritin index. A cross-sectional population-based study was conducted on 951 children aged 1 to 11 years in Almería (Spain). ID was detected in 7.7% of children and iron deficiency anaemia in 0.9%. Multivariate analysis identified the following as independent risk factors: age under 5 years (OR: 2.2, 95% CI: 1.35-3.6); excessive consumption of cow's milk and dairy products (OR: 1.87, 95% CI: 1.13-3.1); and insufficient consumption of vegetables (OR: 2.7, 95% CI: 1.2-6.1).Conclusions: Using a combination of iron status parameters with greater discriminatory power than classical measures, this study detected a considerable iron deficiency prevalence in Spanish children. Younger children and specific dietary habits exhibit a particular risk for ID, so special attention should be paid to this population. What is Known: • Iron deficiency remains the most prevalent nutritional deficit worldwide, and children aged under 3 years are the most vulnerable to this condition. • Accurate assessment of iron status, based on a combination of biochemical indicators, can often be complicated. What is New: • Iron deficiency continues to present a health problem in Spanish children aged 1 to 11 years, considering the serum transferrin receptor and reticulocyte haemoglobin content for diagnosis. • Excessive consumption of dairy products and low consumption of vegetables are independent risk factors for iron deficiency.

Mifepristone Repurposing in Treatment of High-Grade Gliomas.

Glioma is the most common and aggressive primary tumor of the central nervous system. The standard treatment for malignant gliomas is surgery followed by chemoradiotherapy. Unfortunately, this treatment has not produced an adequate patient response, resulting in a median survival time of 12-15 months and a 5-year overall survival of <5%. Although new strategies have been sought to enhance patient response, no significant increase in the global survival of glioma patients has been achieved. The option of developing new drugs implies a long and costly process, making drug repurposing a more practical alternative for improving glioma treatment. In the last few years, researchers seeking more effective cancer therapy have pursued the possibility of using anti-hormonal agents, such as mifepristone. The latter drug, an antagonist for progesterone and glucocorticoid receptors, has several attractive features: anti-tumor activity, low cytotoxicity to healthy cells, and modulation of the chemosensitivity of several cancer cell lines in vitro. Hence, the addition of mifepristone to temozolomide-based glioblastoma chemotherapy may lead to a better patient response. The mechanisms by which mifepristone enhances glioma treatment are not yet known. The current review aims to discuss the potential role of mifepristone as an adjuvant drug for the treatment of high-grade gliomas.

Blood Lead Level in a Paediatric Population of South-Eastern Spain and Associated Risk Factors.

OBJECTIVE: To determine blood lead levels (BLL) in a healthy paediatric population and to analyse related sociodemographic, dietary and haematological factors. METHODS: A cross-sectional study was made of 1427 healthy subjects aged 1-16 years from the city of Almería (south-eastern Spain). BLL, iron parameters and erythropoietin were determined, and sociodemographic and dietary data obtained. The study paramateters was analyses in BLL toxic and BLL no toxic group by multiple logistic regression. RESULTS: The mean BLL was 1.98 ± 1.1 µg/dL (95% CI:1.91-2.04). For 5.7% of the population, mean BLL was 2-5 µg/dL, for 2.1% it was >5 µg/dL and for 0.15% it was >10 µg/dL. Multivariate analysis showed that immigrant origin (OR:11.9; p < 0.0001), low level of parental education (OR:4.6; p < 0.02) and low dietary iron bioavailability (OR: 3.2; p < 0.02) were all risk factors for toxic BLL. Subjects with toxic and non-toxic BLL presented similar iron and erythropoiesis-related parameters, except erythrocyte protoporphyrin, which was significantly higher in the BLL >5 µg/dL group. CONCLUSIONS: BLL and the prevalence of toxic BLL in healthy subjects aged 1-16 years living in south-eastern Spain are low and similar to those found in other developed countries. The factors associated with toxic BLL are immigrant origin, low level of parental education and dietary iron deficiency. The toxicity of BLL was not related to changes in the analytical parameters studied.

Status of folate in healthy children in Almeria.

The objective of this study is to establish reference values for folic acid in a healthy population of children aged 4-11 years and to examine related epidemiological, dietary and analytical factors. A cross-sectional study of 658 healthy children aged 4-11 years was made. Epidemiological, socioeconomic and dietary variables were analysed, the BMI Z-score was obtained, levels of serum folate and serum vitamin B12 were determined and haematological, iron status and erythropoietic activity parameters were examined. The study data were analysed by non-parametric tests and linear multiple regression. The mean folate value was 8.6 ± 4.6 ng/mL (95% reference interval: 2.8-20 ng/mL). A level < 3 ng/mL (5th percentile) was considered as folate deficiency (4.6% of subjects). No child reported symptoms related to this deficiency. Folate values were significantly lower with age (p < 0.01), low NSE and low parental educational level (p: 0.0001). No relationship was found between folates and the analytical variables. According to multivariate linear regression, the variables significantly associated with serum folate were age, socioeconomic level and vitamin B12.Conclusions: Serum folate levels in healthy school children are described. Age, socioeconomic level and serum vitamin B12 are factors associated with folate status. Specific cut-off values for a paediatric population should be defined. What is Known: • Folic acid is an essential micronutrient for optimal growth and development; its deficit is associated with adverse health effects. • The studies on their status and deficit are not comparable due to a lack of agreement on appropriate indicators and reference values. What is New: • This study reports the levels of serum folate in a large population of healthy schoolchildren, with strict inclusion criteria in a developed country and identifies the associated sociodemographic, dietary and analytical (vitamin B12, iron parameters and erythropoietic activity) factors, avoiding potential confusion.

Relationship between Obesity and Iron Deficiency in Healthy Adolescents.

The relationship between overweight/obesity (excess of weight [EW]) and iron deficiency (ID) is not well defined. Objective: To analyze the relationship between EW and ID in healthy adolescents, assessing the contribution of new diagnostic measures of iron status and erythropoietic activity. Method: A cross-sectional study was made of 405 healthy adolescents, 12-16 years of age. A total of 289 were normal weight (NW) and 116 were otherwise healthy EW. Epidemiological, socioeconomic, diet, BMI Z-score, CRP (C-reactive protein), hematological, iron status, and erythropoietic activity parameters were measured. Statistical tests were Student's, analysis of variance (ANOVA), Chi-square, Pearson's correlation, and odds ratio. Results: ID prevalence in the EW group was 22.6% vs. 29.5% in the NW group (p: 0.3). Greater body weight was associated with lower reticulocyte hemoglobin content (CHr) (NW: 31.3 ± 1.7 pg vs. OW: 30.2 ± 1.7 pg, p: 0.007) and greater CRP (NW: 0.1 ± 0.2 mg/dL vs. OW: 0.2 ± 0.18 mg/dL, p < 0.001), leukocytes (NW: 6.69 ± 1.57 × 103/L vs. OW: 7.43 ± 1.63 × 103/L, p < 0.02), platelets (NW: 265.6 ± 58.9 × 103/L vs. OW: 291.8 ± 54.4 × 103/L, p < 0.002), ferritin (NW: 32.1 ± 17.9 ng/mL vs. OW: 42.8 ± 20.3 ng/mL, p: 0.01), serum transferrin receptor (sTfR) (NW: 1.39 ± 0.4 mg/L vs. OW: 1.73 ± 0.45 mg/L, p: 0.008), sTfR-F index (sTfR/log Ferritin) (NW: 1.06 ± 0.7 vs. OW: 1.33 ± 0.85, p: 0.036) and reticulocyte count (NW: 54.2 ± 18 × 103/L vs. OW: 65.4 ± 24.2 × 103/L, p: 0.003). A positive correlation was observed between the BMI Z-score and CRP, ferritin, sTfR, leukocytes, platelets, and reticulocyte count, and a negative one between the BMI Z-score and CHr and medium corpuscular volume. Conclusions: The prevalence of ID in otherwise healthy EW adolescents was no higher than in NW. The effect of obesity on iron status was low. The findings reveal the concomitant low-grade inflammation, and probably the effect of adiposity on erythropoietic activity. Specific cutoff values for ID in adolescents with OW need to be defined.

Prevalence of iron deficiency and related factors in Spanish adolescents.

Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in adolescent population of high-income countries. The present study ascertains the prevalence of iron deficiency and its related factors in adolescents, using the serum transferrin receptor and the reticulocyte haemoglobin content, in order to avoid this confusing effect of classical parameters. A cross-sectional study was conducted on a population-based representative sample for teenagers in Almería (Spain), of 405 subjects aged 12 to 16 years. Iron deficiency was present in 13.3% of adolescents, but iron deficiency anaemia only in 1.2%. Multivariate logistic regression analyses showed that being part of an immigrant family, a low iron bioavailability diet, meat consumption below four times a week and fish consumption below twice a week, were independent risk factors for iron deficiency.Conclusion: This study provides an estimate iron deficiency prevalence of 13.3% in Spanish healthy adolescents, avoiding potential confounding factors through the use of new iron status parameters, based on a wide representative sample of adolescents from the city of Almería. What is Known: • For children and adolescents, iron deficiency anaemia continues to be the world's most important cause of years lived with disability. • Assessment of iron deficiency has traditionally depended on laboratory parameters that may be modified by inflammatory states, including obesity. What is New: • Iron deficiency prevalence and their related factors were analysed in Spanish adolescents, avoiding potential confounding factors through the use of sTfR and CHr. • Being part of an immigrant family and consuming a low iron bioavailability diet are independent risk factors for iron deficiency.

Obesity-Hypoventilation Syndrome: Baseline Hemodynamic Status and Impact of non-Invasive Ventilation. / Síndrome de obesidad-hipoventilación: situación hemodinámica basal e impacto de la ventilación no invasiva.

INTRODUCTION: Obesity-hypoventilation syndrome (OHS) is a risk factor for heart failure (HF). Some studies associate the use of non-invasive ventilation (NIV) with changes in hemodynamic parameters. Our objective was to describe the hemodynamic status of a group of patients with OHS and to study the effect of NIV. PATIENTS AND METHODS: Patients with stable OHS treated with NIV were included in this cross-sectional repeated measurements study. Hemodynamics were measured by bioimpedance: 30minutes at baseline and another 30minutes on NIV. Cardiac output (CO), cardiac index, and systolic volume were measured. The CO calculated for each patient expressed as a percentage of the lower limit of normal (LLN) was taken as reference, and 2 groups were formed: patients without HF and normal CO (≥ 100% of LLN) and patients with HF and low CO (< 100% of LLN). The Mann-Whitney U test was used to compare independent variables and the Wilcoxon test was used for paired variables, with significance set at P<.05. RESULTS: The final sample comprised 36 patients, aged 66 (± 8) years, 19 (52%) men. In 17 (46%) patients, HF was detected with a CO of 3.7 l/min (66%) compared to the group without HF, whose CO was 7 l/min (107%). After NIV, patients with HF showed improvement in CO (4.5 l/min (77%), P=.009, while the non-HF group remained unchanged, with CO 6.8 l/min (104%), P=.2. CONCLUSION: A total of 46% of patients with stable OHS present HF; NIV improves hemodynamics and does not affect patients with normal CO.

[Continuous spike-waves during slow-wave sleep: Experience during 20 years]. / Patrón punta-onda continua en el sueño lento: nuestra experiencia durante 20 años.

INTRODUCTION: Continuous spikes and waves during slow sleep (CSWS) is an EEG pattern that appears during childhood, and is often associated with cognitive impairment. It can appear in the course of epileptic syndromes, as well as in benign epilepsy. The aim of this study is to analyse epidemiological and clinical characteristic of patients with CSWS, in order to describe possible predictive factors in their outcome. METHODS: A retrospective study was conducted on paediatric patients with CSWS treated in a third-level hospital from November 1997 to November 2017. RESULTS: The study included 25 patients (68% male), of whom 76% had abnormalities in the neuroimaging or suffered from psychomotor development disorder (secondary CSWS). The rest were healthy, or diagnosed with idiopathic epilepsy. The mean age of onset of CSWS was 6.7 years, but earlier in the secondary CSWS cases. Symptoms were present during the CSWS episode in 72% of cases. All of them were treated with antiepileptic drugs, which were effective in 36%. CSWS stopped in 72%, and remission was longer if the CSWS onset occurred at an older age. One-third (33%) presented with sequelae, mostly cognitive and behavioural alterations. Outcome was poorer in those with secondary CSWS and, in those whose CSWS started at an earlier age and lasted longer. CONCLUSION: The CSWS pattern, although rare, is still a therapeutic challenge. A close follow-up of the patients with epilepsy is important, especially if associated with cognitive impairment, in order to establish an early diagnosis and treatment.

The usefulness of reticulocyte haemoglobin content, serum transferrin receptor and the sTfR-ferritin index to identify iron deficiency in healthy children aged 1-16 years.

This cross-sectional study, conducted on a population-based representative sample, evaluates the usefulness of reticulocyte haemoglobin content (CHr), serum transferrin receptor (sTfR) and sTfR/log ferritin (sTfR-F index) to recognise iron deficiency (ID) without anaemia, provides specific cut-off points for age and gender, and proposes a new definition of ID. A total of 1239 healthy children and adolescents aged 1-16 years were included. Complete blood count, iron biomarkers, erythropoietin, C-reactive protein, CHr, sTfR, and sTfR-F index were determined. ROC curves were obtained and sensitivity, specificity, predictive values, likelihood ratios, and accuracy for each specific cut-off points were calculated. Seventy-three had ID without anaemia. Area under the curve for sTfR-F index, sTfR and CHr were 0.97 (CI95% 0.95-0.99), 0.87 (CI95% 0.82-0.92) and 0.68 (CI95% 0.61-0.74), respectively. The following cut-off points defined ID: sTfR-F Index > 1.5 (1-5 years and 12-16 years boys) and > 1.4 (6-11 years and 12-16 years girls); sTfR (mg/L) > 1.9 (1-5 years), > 1.8 (6-11 years), > 1.75 (12-16 years girls) and > 1.95 (12-16 years boys); and CHr (pg) < 27 (1-5 years) and < 28.5 (6-16 years).Conclusions: CHr, sTfR and the sTfR-F index are useful parameters to discriminate ID without anaemia in children and adolescents, and specific cut-off values have been established. The combination of these new markers offers an alternative definition of ID with suitable discriminatory power. What is Known: • In adults, reticulocyte haemoglobin content (CHr), serum transferrin receptor (sTfR) and sTfR/log ferritin index (sTfR-F index) have been evaluated and recognised as reliable indicators of iron deficiency (ID). • Clinical manifestations of ID may be present in stages prior to anaemia, and the diagnosis of ID without anaemia continues to pose problems. What is New: • CHr, sTfR and the sTfR-F index are useful parameters in diagnosis of ID in childhood and adolescence when anaemia is not present. • We propose a new strategy for the diagnosis of ID in childhood and adolescence, based on the combination of these measures, which offer greater discriminatory power than the classical parameters.

Alucinosis peduncular: descripción de un caso y revisión del tema / Peduncular hallucinosis: a case report and topic review / Alucinose peduncular: descrição de um caso e revisão do assunto

La alucinosis peduncular es el término utilizado para describir una forma rara de alucinaciones visuales complejas, vívidas, coloridas y generalmente recurrentes que ocurren en relación a lesiones del tronco encefálico y el tálamo. Es una patología infrecuente y su fisiopatología es controvertida. Describimos el caso de una mujer de 38 años con alucinosis peduncular asociada a compresión extrínseca del tronco encefálico secundaria a un schwannoma vestibular. Analizamos las características clínicas y los mecanismos fisiopatológicos subyacentes.

Peduncular hallucinosis is a clinical condition characterized by vivid, colorful, complex visual hallucinations that often recur in time and are described in association with midbrain and thalamic lesions. It is a rare phenomenon and its precise pathophysiology is unknown. We describe the case of a 38-year-old woman who developed peduncular hallucinosis in relation to extrinsic compression of the midbrain secondary to a vestibular schwannoma. Clinical features and underlying pathophysiological mechanisms are discussed.

A alucinose peduncular é o termo usado para descrever uma forma rara de alucinações visuais complexas, vívidas, coloridas e geralmente recorrentes que ocorrem em relação às lesões do tronco encefálico e do tálamo. É uma patologia infreqüente e sua fisiopatologia é controversa. Descrevemos o caso de uma mulher de 38 anos de idade com alucinose peduncular associada à compressão extrínseca do tronco encefálico secundária ao schwannoma vestibular. Analisamos as características clínicas e os mecanismos fisiopatológicos subjacentes.