bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents
Authors: Ngo Um Suzanne Sap , Betoko Ritha Mbono , Mekone Isabelle , Chetcha Adèle Bodieu , Tardy Veronique , Dahoun Sophie , Mure Pierre Yves , Plotton Ingrid , Morel Yves , Etoga Martine Etoa , Nengom Jocelyn Tony , Moifo Boniface , Tambo Faustin Mouafo , Sobngwi Eugène , Ndombo Paul Koki 
Published: May 2022

Abstract

Objectives
Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients.

Methods
We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH.

Results
We consecutively included 31 patients aged less than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08–2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous.

Conclusions
11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.
Kefir protects the liver against high fructose corn syrup induced phosphodiesterase hyperactivity
Authors: Pektaş Mehmet Bilgehan , Aslan Esra , Güzel Hilal , Korkmaz Ömer Adil , Çeleğen Kübra , Pektaş Ayhan , Bostanci Aykut , Sadi Gökhan 
Published: May 2022

Abstract

Objectives
Phosphodiesterases (PDEs) mediate several physiological activities, and alterations in PDE expressions might cause conflicts between functional and clinical effects. This study clarifies the eventual relationship between the hepatic insulin resistance-associated signaling elements and PDEs together with inflammatory markers and investigates the role of kefir in the treatment.

Methods
Male Wistar rats were grouped as Control, Kefir, HFCS (high-fructose corn syrup), and HFCS + Kefir. Daily HFCS (20% w/v) and kefir (1 mL/100 g weight) were given for 8-weeks. Hepatic expressions of PDE isoforms and insulin signaling elements were determined with qPCR and Western blot. The changes in hepatic phospholipase A2 (cPLA2) and insulin-like growth factor 1 receptor-α (IGF-1Rα) were investigated histologically.

Results
HFCS upregulated hepatic PDEs while repressed primary insulin signaling elements at gene and protein levels. It also augmented cPLA2 and IGF-1Rα expression. Kefir suppressed the PDEs and normalized the insulin signaling, and down-regulated cPLA2 and IGF-1Rα in the liver of HFCS-fed rats.

Conclusions
The disruption of the insulin signaling pathway and activation of PDEs were negatively correlated in liver tissues of the HFCS-fed rats. Kefir treatment achieved a remarkable improvement in HFCS-dependent modifications, and it could be an excellent functional food against HFCS-induced insulin resistance, PDE hyperactivity, and inflammation.
Metabolomic Profiling of the Blood of Patients with Chronic Consciousness Disorders
Authors: Orlova A. A. , Kondrat'eva E. A. , Dubrovskii Ya. A. , Dryagina N. V. , Verbitskaya E. V. , Kondratev S. A. , Kostareva A. A. , Kondratev A. N. 
Published: May 2022

The main variants of chronic consciousness disorder (CCD) developing in adverse coma outcome are vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimal consciousness state (MCS). The aim of the study was to investigate the main differences in metabolomic abnormalities in patients with VS / UWS and MCS, as well as to identify changes in metabolomics depending on sleep or wakefulness phase. Materials and Methods. Untargeted metabolome analysis of blood plasma of 10 patients in VS / UWS (group 1) and 6 patients in MCS (group 2) was performed using reversed-phase and hydrophilic chromatography methods. The underlying conditions of brain injury were TBI (2 in group 1 and 5 in group 2) and hypoxia (8 in group 1 and 1 in group 2). The internal jugular vein was catheterized in all patients, and blood was collected while awake during the daytime for 2 days. Aliquots of pooled plasma samples were purified from protein components and analyzed by high-performance liquid chromatography in two modes: reversed-phase and hydrophilic ones. Mass-spectrometric detection was performed in full ion current scanning mode: registration of positively charged ions in the m/z range from 50 to 1300 a.u. Data were adjusted and normalized using MS-DIAL software ver. 4.70 software; differences were identified using analysis of variance, discriminant and cluster analysis. The data were analyzed and visualized using MetaboAnalyst 5.0 software (https://www.metaboanalyst.ca). Results. Four major metabolites (at VIP > 0.5), which content was most modulated depending on the study group, were identified including 4 (m/z 124.0867, Rt = 17.67, p < 0.01), 33 (m/z 782.5722, Rt = 17.69, p < 0.01), 6 (m/z 125.0904, Rt = 18.43, p < 0.01) and 1 (m/z 463.2304, Rt = 15.78, p < 0.01), with no significant differences between daytime and nighttime blood samples. Significant quantitative differences were shown for three metabolites in the groups, 14 (m/z 162.1126, Rt = 10.28, p < 0.01), 35 (m/z 780.5483, Rt = 7.65, p < 0.01), and 41 (m/z 806.5649, Rt = 7.58, p < 0.01), and four metabolites when comparing the daytime and nighttime samples: 14 (m/z 162.1126, Rt = 10.28, p = 0.0201), 35 (m/z 780.5483, Rt = 7.65, p < 0.01), 41 (m/z 806.5649, Rt = 7.58, p < 0.01), and 48 (m/z 848.5354, Rt = 7.65, p < 0.01). Conclusion. Untargeted metabolomic analysis confirmed the hypothesis of likely significant quantitative and qualitative differences in metabolite composition depending on the type of CCD and circadian rhythm. The study established a set of metabolites that are potential biomarkers for differential diagnosis of VS/UWS and MCS including 4, 33, 6, 1 (in the experiment on the reversed-phase column) and 14, 35, 41, 48 (in the experiment on the hydrophilic column), based on their significant contribution to intergroup and intragroup differences. Further studies will be aimed to characterize the identified metabolites.
Comorbidities Coma Scale (CoCoS): Linguistic and Cultural Adaptation of the Russian-Language Version
Authors: Suponeva N. A. , Piradov M. A. , Ryabinkina Yu. V. , Yusupova Dj. G. , Zimin A. A. , Kirichenko O. A. , Buzgan N. G. , Yatsko K. A. , Sergeev D. V. , Zaytsev A. B. , Legostayeva L. A. , Yazeva E. G. , Shcherbakova E. S. , Bundhun P. , Ramchandani N. M. , Pistoia F. 
Published: May 2022

Identification of complications and control of comorbidities are essential in monitoring the patients with chronic disorders of consciousness and predicting their outcomes. The researchers of the Department of Biotechnological and Applied Clinical Sciences of the University of L'Aquila (Italy) developed the Comorbidities Coma Scale (CoCoS) for a comprehensive assessment of such patients. Lack of an officially validated version of the scale hampers its use in Russia, while using versions which have not been completely validated prevents clinicians from obtaining reliable results when examining patients with chronic disorders of consciousness. Aim. To develop the official Russian language version of the Comorbidities Coma Scale, considering various linguistic and cultural parameters, as a part of the 1st stage of the validation study. Material and methods. The first stage of validation was completed: direct and reverse translation of the scale was performed by two independent medical translators. The translated version was assessed by an expert board including an expert translator, neurologists, and critical care specialists. Pilot test and two meetings of the expert board, before and after testing, were arranged to assess the results and approve the final Russian version of the scale. Results. During the first meeting of the expert board, corrections were made in the Russian language version of the scale in terms of language and cultural adaptation. Pilot testing was carried out based on the inclusion and exclusion criteria. The researchers had no difficulties in understanding and interpreting the instructions for the scale. The second meeting of the expert board was held thereupon, and the final version of the Russian language version of the scale was adopted, which is available on the website of the Center for Validation of Health Status Questionnaires and Scales of the Research Center of Neurology. Conclusion. The first stage of validation, i. e., linguistic and cultural adaptation, was carried out at the Research Center of Neurology (Moscow, Russia). For the first time, the Russian version of the scale for assessing comorbidities in patients with chronic disorders of consciousness was presented and approved for the practical use. The future publications will address the psychometric results of the scale such as sensitivity, validity, reliability.
Family Health Development in Life Course Research: A Scoping Review of Family Functioning Measures
Authors: Ramaswami Saswati B. , Jensen Todd , Berghaus Mary , De-Oliveira Sophia , Russ Shirley A. , Weiss-Laxer Nomi , Verbiest Sarah , Barkin Shari 
Published: May 2022

BACKGROUND AND OBJECTIVESOur objective is to identify common family functioning measurement tools and assess their compatibility with family-health development and life-course perspectives.METHODSData sources include PubMed, ERIC, CINAHL, Families and Societies Worldwide, PsychInfo, Web of Science, PsychNet, and Health and Psychosocial Instruments. Title and abstract screening and full-text review of articles were conducted by multiple reviewers based on prespecified inclusion criteria. Data extraction focused on features of identified measurements tools, including: (1) name (2) domains of family functioning measured, (3) established psychometric properties, and (4) original context of psychometric evaluation (eg, details about the study sample).RESULTSOf the 50 measurement tools identified, 94% measured organizational patterns (eg, flexibility, connectedness, or resources), 46% measured belief systems (eg, making meaning of adversity, or positive outlook), and 54% measured communication processes (eg, open emotional sharing, or collaborative problem-solving).CONCLUSIONSExisting measures of family functioning can aid life-course researchers in understanding family processes as contexts for health and well-being. There also remain opportunities to refine or develop measures of family functioning more compatible with a life-course perspective that assess family processes (1) at various life stages; (2) with various backgrounds, identities, structures, and experiences; and (3) embedded in or impacted by various contexts that may facilitate or hinder family functioning.
Applying a Health Development Lens to Canada’s Youth Justice Minimum Age Law
Authors: Barnert Elizabeth S. , Gallagher Devan , Lei Haoyi , Abrams Laura S. 
Published: May 2022

OBJECTIVES
We applied a Life Course Health Development (LCHD) framework to examine experts’ views on Canada’s youth justice minimum age law of 12, which excludes children aged 11 and under from the youth justice system.

METHODS
We interviewed 21 experts across Canada to understand their views on Canada’s youth justice minimum age of 12. The 7 principles of the LCHD model (health development, unfolding, complexity, timing, plasticity, thriving, harmony) were used as a guiding framework for qualitative data analysis to understand the extent to which Canada’s approach aligns with developmental science.

RESULTS
Although the LCHD framework was not directly discussed in the interviews, the 7 LCHD framework concepts emerged in the analyses and correlated with 7 justice principles, which we refer to as “LCHD Child Justice Principles.” Child involvement in the youth justice system was considered to be developmentally inappropriate, with alternative systems and approaches regarded as better suited to support children and address root causes of disruptive behaviors, so that all children could reach their potential and thrive.

CONCLUSIONS
Canada’s approach to its minimum age law aligns with the LCHD framework, indicating that Canada’s approach adheres to concepts of developmental science. Intentionally applying LCHD-based interventions may be useful in reducing law enforcement contact of adolescents in Canada, and of children and adolescents in the United States, which currently lacks a minimum age law.
Traditional knowledge applied to hunting and breeding of the vulnerable Yellow-footed Tortoise (Chelonoidis denticulatus) in the Cazumbá-Iracema Extractive Reserve, Acre, Brazil
Authors: Oliveira Marcela Álvares , Costa-Rodrigues Ana Paula Vitoria , Muniz Calouro Armando 
Published: May 2022

Hunting is intensely practiced in the Amazon and is related to the survival of riverside communities as a source of income and food. This study was conducted at Resex Cazumbá-Iracema between June and November, in the dry season and the beginning of the flood period. Twenty-one families were monitored, six hunting events were followed, and 23 C. denticulatus individuals were recorded, all of which were categorized as opportunistic. Among the studied individuals, 11 were males and 12 females, and those with a carapace over 40 cm were considered adults. The tortoise is captured mainly for food, but there are beliefs concerning its medicinal use in treating inflammatory diseases. Reptiles, in general, are among the least hunted species for food in the Amazon. This preference may be related to the higher mammals’ biomass and the birds’ species richness. However, its importance for consumption may vary according to the location.
Serodiagnostic difficulties and possibilities of heartworm disease in regions where both Dirofilaria immitis and Dirofilaria repens infections occur
Authors: Becker Zsolt , Holló Noémi , Farkas Róbert , Gyurkovszky Mónika , Reiczigel Jenő , Olaszy Krisztián , Vári Zoltán , Vörös Károly 
Published: May 2022

Abstract
This retrospective study was performed on 71 dogs which had been admitted for heartworm screening or with clinical suspicion of heartworm disease. The examination methods included polymerase chain reaction (PCR) to identify Dirofilaria immitis and/or Dirofilaria repens infections and a heartworm antigen (Ag) test (VetScan). By using PCR, 26 dogs were found positive only for Dirofilaria
immitis (Group 1), while 21 dogs for both D. immitis and D. repens (Group 2). Group 3 included 24 dogs with D. repens infection only according to the PCR results. The sensitivity of the VetScan Ag test for the Group 1 and 2 animals proved to be 97.7% (95% Blaker confidence interval; CI 89.0%–99.9%). The specificity of the VetScan Ag test, calculated from the results of Group 3, was found to be 66.7% (95% CI 45.6%–83.1%), which was lower than that reported from the USA, where D. repens does not occur. In cases when PCR results were positive for D. repens but negative for D. immitis, the occult dirofilariosis was the likely explanation for the positive D. immitis Ag tests. These observations highlight the importance of performing more Ag tests simultaneously in those areas where both Dirofilaria species are present.
Primary care experience on Stimunex® gocce in children with recurrent respiratory infections: a real-world study during the COVID-19 pandemic era
Authors: Giannattasio Alessandro , Poggi Elena , Trapani Gianfranco , Muia Cosimo , Zanino Luisella , Landi Massimo , Ciprandi Giorgio 
Published: May 2022

Background: Respiratory infections (RI) significantly burden society, mainly when there are recurrent respiratory infections (RRI). Thus, there is a need to prevent RI in clinical practice. In this regard, the modulation of the immune system and resolution of the inflammatory cascade could represent an ideal way to prevent RI. Stimunex® gocce, a multicomponent food supplement, contains Sambucus nigra extract, β-glucan, Zinc, and Vitamin D3. This study investigated its ability to prevent RRI in children using a real-world setting: the pediatric primary care.
Materials and methods: Two hundred and ninety-eight children with RRI were enrolled in the current study. The food supplement was randomly prescribed to 160 children with RRI daily for 4 months (Active group); the remaining 138 children with RRI were treated only with standard therapy for RI (Control group). The number and duration of RI, parental perception of symptom severity and treatment efficacy, use of medications, and school and working absence were evaluated.
Results: Children treated with Stimunex® gocce had significantly less RI than the Control group, both concerning upper and lower RI (p˂0.001 and 0.003, respectively) during the follow-up period. Moreover, children in the Active group experienced shorter RI duration during the treatment and follow-up phases (p˂0.001 for both). In addition, parents of treated children perceived less severe symptoms and better treatment efficacy during the first and follow-up phases (p˂0.001 for all). The food supplement was well tolerated and there was no adverse event.
Conclusions: The current real-world study demonstrated that Stimunex® gocce supplementation in children with RRI might safely prevent RI episodes and reduce RI duration. These outcomes should be highlighted as obtained during the COVID-19 pandemic era, characterized by a dramatic reduction of RI.
Easy approach to detect cell immunity to COVID vaccines in common variable immunodeficiency patients
Authors: Barrios Yvelise , Franco Andrés , Alava-Cruz Cristina , Cuesta-Martin Ricardo , Camara Carmen , Matheu Victor 
Published: May 2022

Background: Patients with primary antibody deficiencies, such as Common Variable Immunodeficiency (CVID), have some problems to assess immune response after coronavirus disease (COVID) vaccination. Cutaneous delayed-type hypersensitivity (DTH) has the potential to be used as a useful, simple, and cheaper tool to assess T-cell (T lymphocyte) function.
Methods: Seventeen patients with CVID, a rare disease, received two doses of the mRNA-based Pfizer-BioNTech COVID-19 vaccine. Humoral Immune Response (HIR) was determined by measuring specific immunoglobulin G (IgG) antibodies, and Cellular Immune Response (CIR) was evaluated using an ex vivo interferon-gamma release assay (IGRA) and in vivo by DTH skin test.
Results: Two weeks after the second dose of the vaccine, 12 out of 17 CVID patients have high optical density (OD) ratios of specific anti-spike protein (S) IgG whereas five patients were negative or low. Ex vivo CIR was considered positive in 14 out of 17 S1-stimulated patients. Unspecific stimulation was positive in all 17 patients showing no T-cell defect. A positive DTH skin test was observed in 16 CVID patients. The only patient with negative DTH also had negative ex vivo CIR.
Conclusions: The use of DTH to evaluate CIR was validated with an optimal correlation with the ex vivo CIR. The CIR after vaccination in patients with antibody deficiencies seems to have high precision and more sensitivity to antibodies-based methods in CVID.
Clinical Implications: There is a remarkable correlation between cutaneous DTH and ex vivo IGRA after COVID vaccination. A COVID-specific skin DTH test could be implemented in large populations.
Capsule Summary: Cutaneous delayed-type hypersensitivity has the potential to be used as a useful, simple, and cheaper tool to assess T-cell functioning.
“Tobacco epidemic” in the North-East of Russia
Authors: Barbaruk Yu. V. 
Published: May 2022

Since 2004, the Russian Federation has been taking more and more active steps to reduce tobacco consumption, but the epidemiological situation still indicates a low effectiveness of tobacco control measures in several regions of the country. Magadan Region is one of the worst in Russia on the epidemiology of tobacco; its example can show gaps in the state’s tobacco control policy and help work out measures to improve the situation.Aim. Analysis of the tobacco epidemiology in Magadan Region.Methods. A wide survey of the population of the region aged over 15 was performed. A total of 341 people were involved in the survey. The collected data included general information about the respondent, information on tobacco use, tobacco cessation, secondhand smoke, the economy, the media, knowledge, attitudes and perceptions related to tobacco use. The type of the sample was quota based on gender, age and geographical distribution of the population.Results. The study showed that 42% of the population of the region over 15 years old used tobacco regularly. About 90% of the respondents became addicted between 13 and 22 years. The modal consumption values are 10 or 20 cigarettes per day. The average spending on tobacco is about 42 thousand Rubles per year per smoker. Up to a 1/3 of smokers have tried but failed to give up their addiction over the previous year. At the same time, an extremely poor knowledge of the methods of anti-smoking therapy was observed. About 80% of the tobacco users would like to quit smoking in the future.Conclusion. The relatively small costs of tobacco expenses in regions with a high level of income hinder the most effective method of tobacco control – raising taxes on tobacco products.
A comparison of informative between 6-minute walking test and sit-to-stand test in patients with fibrosing interstitial lung diseases
Authors: Chikina S. Yu. , Ataman K. S. , Trushenko N. V. , Avdeev S. N. 
Published: May 2022

Physical intolerance is an important sign of many chronic respiratory diseases. The most useful tool for clinical evaluation of physical status is six-minute walking test (6-MWT), but sometimes its technical requirements are not feasible. By this reason, a search for alternative field tests have being going on in the last years, but the diagnostic yield of the new exercise tests for most chronic bronchopulmonary diseases is not clear.The aim of this study was to compare results of 6-MWT and 30-seconds sit-to-stand (30-s-STS) test in patients with fibrosing interstitial lung diseases (ILDs) and restrictive abnormalities of lung function.Methods. This was a cross-sectional non-randomized open comparative study. Patients with ILDs were asked to perform 6-MWT and 30-s-STS test with 30 min interval. We also analyzed medical history, lung function, and dyspnea assessed with Medical Research Council (MRC).Results. The study included 25 ILD patients (11 males; 14 women); 75% of patients had restrictive lung function disorders. The mean distance walked in 6-MWT (6MD) was 380.4 ± 111.9 m (M ± SD), 14 (56%) patients desaturated during the test. The mean number of repetitions in 30-s-STS test was 12 (10 – 13) during 30 s; 5 (20%) patients desaturated during the test. 6MD showed moderate correlation with the number of repetitions in 30-s-STS test and to dyspnea on exertion. The number of repetitions in the 30-s-STS test was not associated with any clinical or functional parameters. To the end of exercise, the number of patients who desaturated increased, the desaturation was greater, and post-exercise SpO2 was lower in 6-MWT compared to 30-s-STS test.Conclusion. 30-s-STS test was less informative in terms of reduced physical tolerance and desaturation on exertion compared to 6-MWT in patients with fibrosing ILDs and restrictive abnormalities of lung function.