33 research outputs found
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
No full textStaretz-Chacham O, Schlotawa L, Wormser O, et al. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine. 2020;8(9): e1167.BACKGROUND: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents.; METHODS: We collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model.; RESULTS: We report on two MSD patients-the first neonatal type reported in Israel-both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C>T, p.A348V). Functional analysis revealed that the SUMF1-encoded variant of formylglycine-generating enzyme is highly instable and lacks catalytic function.; CONCLUSION: The obtained results confirm genotype-phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc
Determination of elevated eosinophil to lymphocyte ratio, eosinophil to neutrophil ratio, eosinophil to monocyte ratio and its association with severe vitiligo: A retrospective cohort study.
No full textBackgroundHematological markers such as eosinophil-to-lymphocyte (ELR), eosinophil-to-neutrophil (ENR), and eosinophil-to-monocyte (EMR) ratios may be used in the assessment of skin diseases. However, the relationship with vitiligo remains unclear.ObjectivesWe investigated ELR, ENR, and EMR in vitiligo patients and the association with severe vitiligo.MethodsThis study included patients of all ages diagnosed with vitiligo between 2005-2020. ELR, EMR, and ENR were calculated from complete blood counts within 30 days of the first recorded vitiligo diagnosis and 12-18 months before the vitiligo diagnosis. We evaluated the associations between ELR, ENR, and EMR and vitiligo.Results9,826 vitiligo patients (8,398 adults and 1,428 children) and 8,951 age and sex-matched controls were included in this study. We found that ELR, EMR, and ENR were higher in children than in adults. Patients with vitiligo had higher ENR and EMR than their matched controls. Patients with severe vitiligo had higher ELR, ENR, and EMR compared to patients with mild vitiligo. Patients with increased ENR and EMR 12-18 months before the vitiligo diagnosis had a higher chance of having severe vitiligo (ENR: OR = 7.40, pConclusionELR, ENR, and EMR may be used in the assessment and prognosis of vitiligo, especially in severe cases
Acute liver failure in a pediatric patient with congenital dyserythropoietic anemia type I treated with deferasirox
No full textCongenital dyserythropoietic anemias (CDA) represent a heterogeneous group of disorders characterized by morphological abnormalities of erythroid precursor cells and various degrees of hemolysis. Iron overload is a result of continuous hemolysis and recurrent transfusions. It is treated with iron chelators, including deferasirox. We present here a case of acute liver failure in a 12 years old girl with CDA type I treated with deferasirox and discuss the approach to treatment
Israeli pediatricians’ confidence level in diagnosing and treating children with skin disorders: a cross-sectional questionnaire pilot study
No full textBackgroundPediatricians daily see large numbers of patients with skin disorders. However, they encounter limited guidance as a result of a marked deficiency in pediatric dermatologists. Hence, reevaluation of training opportunities during pediatric residency has become essential. Our aim was to evaluate the confidence level of pediatric residents and specialists in diagnosing and treating skin disorders in children and to determine career and training-related characteristics that influence it.MethodsConducted as a cross-sectional study, we administered a questionnaire to 171 pediatricians across Israel. We assessed respondents’ self-efficacy about their ability to diagnose and treat skin disorders and collected data regarding their previous dermatology training and preferred training methods.Results77.8% of respondents reported below or average self-efficacy scores in diagnosing and managing children with skin disorders. Older age (>40 years old; OR = 5.51, p = 0.019), treating a higher number of patients with skin disorders (OR = 2.96, p = 0.032), and having any training in dermatology, either during medical school or residency (OR = 7.16, p = 0.031, OR = 11.14, p = 0.003 respectively), were all significant parameters involved in pediatricians reporting high self-efficacy in skin disorder management.ConclusionMost pediatric residents and pediatricians have average or below-average confidence in managing pediatric skin disorders. We suggest incorporating dermatology rotations during pediatric residency to improve young pediatricians’ self-efficacy in managing skin disorders and ultimately help pediatricians provide better care for patients presenting with dermatological conditions. These findings can ultimately help refine a pilot program in dermatology that might be implemented during pediatric residency
Clinical and demographic characteristics of patients with chronic vitligo, stratified by age group.
No full textClinical and demographic characteristics of patients with chronic vitligo, stratified by age group.</p
Hematologic ratios of patients with chronic vitligo, stratified by age group.
No full textHematologic ratios of patients with chronic vitligo, stratified by age group.</p
Elevated Neutrophil-to-Lymphocyte Ratio Is Associated with Severe Asthma Exacerbation in Children
No full textAsthma is the most common chronic respiratory disease in children. The neutrophil-to-lymphocyte ratio (NLR) is a marker of a chronic inflammatory state; however, data on the association of NLR with acute asthma exacerbations in children is lacking. In this cross-sectional study, between 2016 and 2021, children aged 2–18 years who were referred to the emergency department (ED) due to asthma exacerbation, were included. NLR, calculated from complete blood count upon arrival, was assessed as a continuous variable and was classified into four groups according to quartiles. The association between severity parameters and NLR quartiles was examined. A total of 831 ED visits for asthma exacerbation were included in the study. The median NLR was 1.6, 3.8, 6.7, and 12.9 in quartiles 1–4, respectively (p < 0.001). Demographic parameters, background diseases, and chronic medications were similar between the quartiles. Higher heart rate, body temperature, systolic blood pressure, and respiratory rate were observed in the higher NLR quartiles, as well as lower oxygen saturation. Higher urgency scale and higher rates of intravenous magnesium sulfate were observed in the higher NLR quartiles, with higher admission rates and prolonged hospitalizations. In summary, NLR upon admission is associated with the severity of asthma exacerbation and higher chances of hospitalization among children in the ED
Hematological parameters of mild vitiligo patients compared to healthy controls.
No full textHematological parameters of mild vitiligo patients compared to healthy controls.</p
Demographics of children vs adults.
No full textBackgroundHematological markers such as eosinophil-to-lymphocyte (ELR), eosinophil-to-neutrophil (ENR), and eosinophil-to-monocyte (EMR) ratios may be used in the assessment of skin diseases. However, the relationship with vitiligo remains unclear.ObjectivesWe investigated ELR, ENR, and EMR in vitiligo patients and the association with severe vitiligo.MethodsThis study included patients of all ages diagnosed with vitiligo between 2005–2020. ELR, EMR, and ENR were calculated from complete blood counts within 30 days of the first recorded vitiligo diagnosis and 12–18 months before the vitiligo diagnosis. We evaluated the associations between ELR, ENR, and EMR and vitiligo.Results9,826 vitiligo patients (8,398 adults and 1,428 children) and 8,951 age and sex-matched controls were included in this study. We found that ELR, EMR, and ENR were higher in children than in adults. Patients with vitiligo had higher ENR and EMR than their matched controls. Patients with severe vitiligo had higher ELR, ENR, and EMR compared to patients with mild vitiligo. Patients with increased ENR and EMR 12–18 months before the vitiligo diagnosis had a higher chance of having severe vitiligo (ENR: OR = 7.40, pConclusionELR, ENR, and EMR may be used in the assessment and prognosis of vitiligo, especially in severe cases.</div
