Is Raman Spectroscopy of Fingernails a Promising Tool for Diagnosing Systemic and Dermatological Diseases in Adult and Pediatric Populations?

Background: Raman spectroscopy is a well-known tool used in criminology, molecular biology, and histology. It is also applied to diagnose bone mineral disorders by taking advantage of the similarity of the structure of keratin and bone collagen. Raman spectroscopy can also be used in dermatology and diabetology. The purpose of the present review is to critically evaluate the available research about the use of Raman spectroscopy in the mentioned areas of medicine. Methodology: PubMed was searched for peer-reviewed articles on the subject of use of Raman spectroscopy in bone mineral disorders, dermatology, and diabetes mellitus. Results: Nail keratin and bone collagen are related structural proteins that require disulfide bond for structural stability. Therefore, Raman spectroscopy of keratin may have potential as a diagnostic tool for screening bone quality and distinguishing patients at risk of fracture for reasons different from low bone mineral density (BMD) in the adult women population. Raman spectroscopy can also investigate the changes in keratin's structure in nails affected by onychomycosis and distinguish between healthy and onychomycosis nail samples. It could also reduce the need for nail biopsy by distinguishing between dermatophytic and non-dermatophytic agents of onychomycosis. Additionally, Raman spectroscopy could expedite the diagnostic process in psoriasis (by assessing the secondary structure of keratin) and in diabetes mellitus (by examining the protein glycation level). Conclusions: In adult populations, Raman spectroscopy is a promising and safe method for assessing the structure of fingernails. However, data are scarce in the pediatric population; therefore, more studies are required in children.

No association between Helicobacter pylori infection and gastrointestinal complaints in a large cohort of symptomatic children.

AIM: This Polish study estimated the prevalence of the Helicobacter pylori infection in symptomatic children aged 3-18 and investigated its association with gastrointestinal complaints. METHODS: We prospectively enrolled 1984 children (54% female) with a mean age of 9.5 ± 4.1 years, from Silesia, Poland, for the Good Diagnosis Treatment Life screening programme from 2009 to 2016. They underwent a 13 C-isotope-labelled urea breath test (UBT) to assess their Helicobacter pylori status, making this the biggest Polish study to use this approach. Further analysis included parental-reported gastrointestinal symptoms and standard deviation scores (SDS) of anthropometric measurements. RESULTS: The Helicobacter pylori infection was identified in 220 (11%) children (48% female) and was independent of age and sex. The frequency of symptoms did not differ between Helicobacter positive and negative children (all p > 0.05). Children with a positive UBT result had a lower body mass SDS (-0.41 ± 0.98 versus -0.26 ± 1.01, p = 0.04) and height SDS (-0.45 ± 1.34 versus -0.23 ± 1.27, p = 0.02), but similar body mass index SDS. CONCLUSION: We found a low prevalence of Helicobacter pylori in symptomatic children, and positive UBT results were not associated with symptoms that suggested Helicobacter pylori infections. Our findings support the 2017 European and North American guidelines for Helicobacter infections in children.

Helicobacter pylori infection in type 1 diabetes children and adolescents using 13C urea breath test.

There is a 10-30% prevalence of HP infection in the general pediatric population in Poland. This study aimed to determine its prevalence in T1DM children in Upper Silesia, Poland and estimate its influence on metabolic control of patients. We studied 149 (82 female) children with T1DM (duration > 12 months, mean HbA1c) and 298 (164 female) age-matched controls. In all cases height and weight z-scores and Cole's index were assessed. In T1DM patients additionally glycated hemoglobin A1c and T1DM duration were analyzed. Presence of HP infection was determined using 13C-isotope-labeled urea breath test (UBT) (fasting and 30 min after ingestion 75 mg of 13C urea). HP infection was present in 17 (11.4%) T1DM patients and in 49 (16.4%) controls (p > 0.05). T1DM patients presented higher values of anthropometric parameters than healthy controls (weight SDS 0.25[-0.46 divided by 0.84] vs. -0.25 [-1.06 divided by 0.26], height SDS 0.09 [-0.60 divided by 0.69] vs. -0.31[-1.17 divided by 0.48] and Cole's index 103% [93 divided by 111%] vs. 97% [86 divided by 106%]; for all p < 0001). Within both groups--T1DM children and controls--no differences regarding sex, age and any of the anthropometric parameters were determined. T1DM duration and HbA1c showed no relation to prevalence of HP infection. Prevalence of HP infection in pediatric T1DM patients is similar to that of healthy peers and shows no relation to glycemic control.

Trichobezoar Found Accidently while Diagnosing Resistance to Thyroid Hormone.

Introduction: Bezoars are masses of indigestible foreign material in the gastrointestinal tract, usually in the stomach. These materials could be indigestible fruits, hair, milk products, or tablets. In children, the most common type of bezoar is trichobezoar (formed from hair). Case Presentation: We describe a female patient who has been complaining about deterioration of mood, collapse without losing consciousness, scotomas, and cardiac arrhythmia for 2 years. Based on the results of thyroid hormone, resistance to thyroid hormone (RTH) was suspected. Physical examination during hospitalization revealed a palpable upper abdominal mass. Several diagnostic examinations were performed. The abdominal ultrasound showed acoustic shadowing caused by a pathological structure in the upper abdomen. Therefore, the contrast X-ray of the digestive tract revealed a deficit of contrast with an irregular shape in the stomach body and the pylorus region. Due to these results, a gastroscopy was performed, which revealed a large trichobezoar of the stomach. The trichobezoar was surgically removed without complications. Conclusion: The case presented shows that these nonspecific symptoms and laboratory test suggesting RTH require multi-path diagnostics and the cooperation of many specialists, ultimately giving a surprising diagnosis. It is crucial to interpret diagnostic examinations with regard to the patient's physical condition. Diagnosis of trichobezoar requires a detailed search of causes to avoid another incident.

SARS-CoV-2 Infection as a Possible Trigger for IgA-Associated Vasculitis: A Case Report.

BACKGROUND: IgA-associated vasculitis (IgAV), formerly known as Henoch-Schönlein purpura (HSP) disease, is the most common type of systemic vasculitis observed during developmental age. Available published studies associate the outbreak of the disease with streptococci, adenovirus, parvovirus, mycoplasma, respiratory syncytial virus (RSV), and influenza infection in approximately 50% of patients with HSP, while some emerging reports have described a few cases of COVID-19 infection being associated with HSP in both adults and children. CASE PRESENTATION: a 7-year-old girl was diagnosed with HSP, fulfilling the four required clinical criteria (palpable purpura and abdominal pain, arthralgia and edema, and periodic renal involvement). Infection with SARS-CoV-2 was confirmed via the presence of IgM and IgG antibodies. The disclosure of the Henoch-Schönlein purpura (HSP) disease was preceded by a mild, symptomatically treated infection of the upper respiratory tract. High levels of inflammatory markers were observed during hospitalization, including leukocytosis, an increased neutrophil count and a high neutrophil-to-lymphocyte ratio (NLR). All of these markers are associated with IgAV gastrointestinal bleeding, which was also associated with rotavirus diarrhea observed in the patient. CONCLUSIONS: This case presented by us and similar cases presented by other authors indicate the possible role of SARS-CoV-2 in the development of HSP, but this assumption requires further research and evidence-based verification.

Pulmonary Function in Paediatric Patients with Inflammatory Bowel Disease.

BACKGROUND: Among the extraintestinal manifestations of inflammatory bowel disease (IBD), those involving the lungs are relatively rare and often overlooked. There are only scarce data on the prevalence of IBD-associated lung involvement in children. OBJECTIVES: The aim of our study was to assess pulmonary function in IBD children by different methods and to evaluate the influence of immunosuppressive therapy on disease severity. METHODS: Seventy-two children with IBD (mean age of 14.45 ± 2.27 years) and 40 age-matched healthy controls (mean age of 14.17 ± 2.82) were included in the study. Pulmonary function tests (PFTs) were carried out by means of spirometry, oscillometry (IOS) and fractional exhaled nitric oxide (FeNO) to assess the pulmonary involvement. RESULTS: Certain differences were observed between the study group and the control group, regarding the spirometric and oscillometry parameters. The fractions of exhaled nitric oxide did not differ between the group with IBD patients and the control group with regards to disease activity, the duration of illness and the administered immunosuppressive treatment. CONCLUSIONS: The mean spirometry results were significantly different in the study group compared to the controls, although they were still within the normal limits. The pulmonary function abnormalities did not depend on either the disease activity or the immunosuppressive therapy. Oscillometry could be a supplementary method to assess pulmonary resistance. In turn, FeNO does not appear to be useful either in screening IBD children for pulmonary involvement or for the evaluation of disease activity. It appears then that only general screening of asymptomatic patients is a suitable method and a necessary recommendation in this population, prompting a revision of the current diagnostic approach.

Usefulness of Measuring Thiopurine Metabolites in Children with Inflammatory Bowel Disease and Autoimmunological Hepatitis, Treated with Azathioprine.

INTRODUCTION: Thiopurines, such as azathioprine (AZA) and 6-mercaptopurine (6-MP), are immunomodulatory agents, used for the maintenance of remission in children with inflammatory bowel disease (IBD)-Crohn's disease (CD) and ulcerative colitis (UC), as well as with autoimmunological hepatitis (AIH). Measurements of thiopurine metabolites may allow identifying patients at risk for toxicity and nonadherence. It can also provide an explanation for the ineffectiveness of the treatment, observed in some patients. Patients and Methods. A retrospective analysis was carried out of sixty-eight patients (thirty-six patients with CD, eighteen with UC, and fourteen with AIH), treated with AZA. Thiopurine metabolites, 6-thioguanine nucleotide (6-TGN) and 6-methylmercaptopurine (6-MMP), were assayed by high-performance liquid chromatography (HPLC), and the AZA dose was adjusted when 6-TGN concentration was known. RESULT: Only twenty-five (41%) children had therapeutic 6-TGN concentrations, ten (16%) subjects had suboptimal 6-TGN concentrations, and twenty-six subjects (43%) had 6-TGN concentrations above the recommended therapeutic range. 6-MMP was not above the therapeutic range in any case. Seven subjects revealed undetectable 6-TGN and 6-MMP levels, indicating nonadherence. The mean AZA dose after the 6-TGN concentration-related adjustment did not differ, in comparison to the initial dose, either in IBD or AIH groups. The mean AZA dose was lower in AIH than in IBD. The subjects with an optimal 6-TGN level presented with a higher ratio of remission (88%) than the under- or overdosed patients (60% and 69%), respectively (Chi - square test = 3.87, p < 0.05). CONCLUSION: Timely measurements of thiopurine metabolites can be a useful tool to identify nonadherent patients before a decision is taken to switch to another drug. We may also spot the patients who receive either too low or too high doses, compensating dose deviations in an appropriate way. The patients with optimal 6-TGN levels presented a higher percentage of remission than the under- or overdosed patients. In most patients, both initial and adjusted AZA doses, lower than suggested in guidelines, appeared to be sufficient to maintain remission.

[The impact of socioeconomic status on the quality of life in patients with chronic obstructive pulmonary disease]. / Wptyw statusu socjoekonomicznego na jakosc zycia chorych na przewlekta obturacyjna ptuc.

INTRODUCTION: In addition to the traditional biomedical parameters, quality of life (QoL) evaluation has found its well-deserved place in the overall assessment of patients with chronic obstructive pulmonary disease (COPD). The impact of socioeconomic status (SES) was rarely evaluated in QoL studies in such patients with no such studies having been conducted in Poland. The aim of our study was to compare QoL between COPD patients and the control group and to evaluate the impact of SES, selected demographic characteristics, smoking and bronchial tree obstruction on the QoL in COPD patients. MATERIAL AND METHODS: We enrolled 120 patients with COPD (98 men and 22 women; mean age: 62.3 years) with no comorbidities and 85 healthy individuals (39 men and 46 women; mean age: 56.0 years). All the COPD patients underwent spirometry. QoL was assessed with the SF-36 Health Survey and the St George's Respiratory Questionnaire. To assess SES, demographic variables and smoking we used a questionnaire of our own authorship. RESULTS: COPD patients showed a significantly lower QoL compared to controls. Univariate analysis demonstrated effects of educational background, income, occupation, employment status and bronchial obstruction on the individual QoL domains. Multivariate regression analysis revealed that the sociodemographic factors significantly affecting the overall QoL included: present occupation, employment status, monthly income, educational background and total exposure to cigarette smoke. No effects of age, sex or smoking status on the QoL in COPD were shown. CONCLUSIONS: The QoL in patients with COPD is affected by many factors. In addition to spirometric abnormalities the significant factors that modify QoL are: educational background, monthly income, present occupation and employment status, while sex, age and smoking status do not significantly affect QoL.

Skeletal status assessed by quantitative ultrasound and dual-energy X-ray absorptiometry in children with inflammatory bowel disease: A 2-year prospective study.

PURPOSE: To assess the bone status in children with inflammatory bowel diseases (IBD) using quantitative ultrasound (QUS) measurement and dual-energy X-ray absorptiometry (DXA) at baseline and after two years of adequate treatment of the IBD and bone protection medication. METHODS: Sixteen children (six boys) with IBD, aged 13.4±2.4 years, were examined at baseline and two years later. DXA was used to asses bone mineral density (BMD) and reference data were provided by the device's manufacturer (Hologic Explorer). QUS measurements were performed in patients and controls - 48 healthy children. RESULTS: Mean Z-scores for TB- and s-BMD were significantly below zero for both, baseline and follow-up (-2.61±0.99 and -2.48±0.88 for TB, and -1.83±1.33 and -1.61±1.19 for s-BMD, respectively), and did not differ significantly, as well as mean Ad-SoS Z-score. The changes in time of TB Z-score and body weight Z-score correlated positively (r=0.63; P<0.01). The QUS results did not differ between patients and controls. There was a negative correlation between the baseline nutritional status and the activity of the disease, as well as of the number of flares before the enrolment and Ad-SoS Z-score. CONCLUSIONS: BMD was found to be lowered both at baseline and follow-up. No further deterioration was observed during 2-year follow-up. Proper treatment, defined as treatment following ECCO Guidelines, may allow to keep a similar trend in the development of bone tissue as in healthy children. The bone properties assessed by QUS method did not differ between patients and controls. QUS at hand phalanges appears not to be proper diagnostic tool in IBD children.

Bone status in adolescents and young adults with type 1 diabetes: a 10-year longitudinal study.

INTRODUCTION: This study presents a 10-year longitudinal assessment of bone status in adolescents and young adults with type 1 diabetes (T1D). MATERIAL AND METHODS: Thirty-two patients (12 female, aged 20.5 ± 3.93 years, T1D duration 13.9 ± 1.97 years) were studied using quantitative ultrasound (QUS) and dual-energy X-ray absorptiometry (DXA). Standard deviation scores (SDS) for these results were calculated. The following clinical parameters were analysed: sex, age, T1D duration, anthropometric parameters, daily insulin requirement (DIR), mean glycated haemoglobin (HbA1c) in the year preceding the examination, medication other than insulin, history of bone fractures, and comorbidities. RESULTS: The current and past (measured 10 years earlier) QUS results did not differ and showed a significant correlation (r = 0.55, p = 0.001). We found no relation of QUS results and anthropometric parameters or gender. DXA parameters did not correlate with the present QUS measurement. DXA and QUS results were independent of HbA1c, co-morbidities, or intake of additional medicaments. CONCLUSIONS: Bone status parameters of the examined patients with currently suboptimal glycaemic control were found to be lowered in comparison to a normative reference population, both at baseline and follow-up, although no further deterioration was observed during the 10-year follow-up period.

Redefining the Practical Utility of Blood Transcriptome Biomarkers in Inflammatory Bowel Diseases.

BACKGROUND AND AIMS: The study investigates the practical utility of whole-blood gene expression profiling to diagnose inflammatory bowel diseases [IBDs]. METHODS: The discovery cohorts included 102 and 51 paediatric IBD patients and controls, and 95 and 46 adult IBD patients and controls, respectively. The replication cohorts included 447 and 76 paediatric IBD patients and controls, and 271 and 108 adult IBD patients and controls, respectively. In the discovery phase, RNA samples extracted from whole peripheral blood were analysed using RNA-Seq, and the predictive values of selected biomarkers were validated using quantitative polymerase chain reaction [qPCR]. RESULTS: In all, 15 differentially expressed transcripts [adjusted p ≤0.05] were selected from the discovery sequencing datasets. The receiver operating characteristic curves and area under the curve [ROC-AUC] in replication analyses showed high discriminative power [AUC range, 0.91-0.98] for 11 mRNAs in paediatric patients with active IBD. By contrast, the AUC-ROC values ranged from 0.63 to 0.75 in comparison among inactive paediatric IBDs and active/inactive adult IBDs, indicating a lack of discriminative power. The best multi-mRNA diagnostic classifier showed moderate discriminative power [AUC = 0.81] for paediatric inactive IBD, but was not able to discriminate active or inactive adult IBD patients from controls. The AUC-ROC values did not confirm an ability of the mRNAs abundances to discriminate between active ulcerative colitis and active Crohn's disease in paediatric or adult populations. CONCLUSIONS: This study identifies and validates blood transcriptional biomarkers that could be used in clinical settings as diagnostic predictors of IBD clinical activity in paediatric, but not adult, IBD patients.

Bone status assessed by quantitative ultrasound in children with inflammatory bowel disease: a comparison with DXA.

BACKGROUND: To determine the bone status in children with inflammatory bowel diseases (IBD) using quantitative ultrasound (QUS) measurement at hand phalanges and compare the obtained results with dual-energy X-ray absorptiometry (DXA). METHODS: Fifty-one children with IBD underwent DXA and QUS measurements at hand phalanges in the year 2013. The control group for the QUS consisted of 460 children. Reference data for DXA comes from Hologic Explorer. RESULTS: QUS measurements did not differ significantly between IBD patients and healthy controls. There was no difference between UC and CD subjects. DXA measurements in patients with IBD were lower than in the healthy population. Tanner stage and nutritional status correlated with bone status contrary to steroids therapy. CONCLUSION: Low bone mineral density often complicates IBD in children. QUS is not an appropriate method for the assessment of bone status in children. Nutritional status seems to have a greater impact on bone status than corticosteroids therapy.

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Most inflammatory bowel diseases (IBDs) are classic complex disorders represented by common alleles. Here we aimed to define the genetic architecture of pediatric and adult-onset IBDs for the Polish population. A total of 1495 patients were recruited, including 761 patients with Crohn's disease (CD; 424 pediatric), 734 patients with ulcerative colitis (UC; 390 pediatric), and 934 healthy controls. Allelotyping employed a pooled-DNA genome-wide association study (GWAS) and was validated by individual genotyping. Whole exome sequencing (WES) was performed on 44 IBD patients diagnosed before 6 years of age, 45 patients diagnosed after 40 years of age, and 18 healthy controls. Altogether, out of 88 selected SNPs, 31 SNPs were replicated for association with IBD. A novel BRD2 (rs1049526) association reached significance of P = 5.2 × 10-11 and odds ratio (OR) = 2.43. Twenty SNPs were shared between pediatric and adult patients; 1 and 7 were unique to adult-onset and pediatric-onset IBD, respectively. WES identified numerous rare and potentially deleterious variants in IBD-associated or innate immunity-associated genes. Deleterious alleles in both groups were over-represented among rare variants in affected children. Our GWAS revealed differences in the polygenic architecture of pediatric- and adult-onset IBD. A significant accumulation of rare and deleterious variants in affected children suggests a contribution by yet unexplained genetic components.