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Psychotic disorders in youth pose significant challenges for mental health services, necessitating a detailed understanding of the interplay between risk factors and resilience. This systematic review aimed to assess how resilience factors might buffer the adverse effects of risk factors on the development of psychosis among youth, thereby informing targeted interventions. Studies were selected based on criteria including a focus on individuals aged up to 25 years old at risk for psychosis, the examination of both risk factors and resilience, and the use of validated instruments for measuring outcomes. Literature searches were conducted across several databases, such as PubMed, Scopus, and Web of Science. Data extraction emphasized odds ratios (ORs) and hazard ratios (HRs) for risk factors, including familial, developmental, and socio-environmental influences. The review included and analyzed nine studies, encompassing a diverse sample of 140,972 participants. Significant findings indicate that highly supportive familial and community environments significantly reduce the risk of psychosis onset. For instance, children with strong family support and engagement in structured activities demonstrated a 40% lower incidence of developing psychotic symptoms [p < 0.05]. Furthermore, the presence of neurobehavioral deficits, such as impaired verbal memory and attention, emerged as significant predictors of psychosis, with these children exhibiting a threefold increase in risk compared to their peers [OR = 3.2, 95% CI: 2.1–4.8, p < 0.01]. Resilience factors play a critical role in mitigating the impact of psychosocial and neurobiological risks in the development of psychosis among youths. Interventions enhancing resilience could potentially alter the trajectory of psychosis development, emphasizing the need for early and targeted psychosocial interventions to support at-risk populations. This study underscores the importance of fostering resilience through both individual-focused and community-based strategies to prevent the onset of psychotic disorders in vulnerable young populations. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the responsible genetic mutations and the variability in its manifestations make it a significant research focus. This prospective cross-sectional descriptive study evaluated health-related quality of life (HRQoL) across eight health domains in 43 Romanian SMA patients treated with nusinersen, using the SF-36 questionnaire to analyze influencing factors. The survey was conducted online with informed consent, and the data were analyzed using MedCalc software, employing both parametric and non-parametric statistical tests for accurate interpretation. The results revealed significant variations in HRQoL. Most patients were non-ambulatory (74.4%), reflecting SMA's impact on mobility. Urban residents reported better outcomes, particularly in physical functioning (p = 0.014), which may be attributed to improved access to healthcare services. Younger participants (under 14), represented by proxy responses, noted better general health (p = 0.0072) and emotional well-being (p = 0.0217) compared to older participants. These findings suggest that younger patients or their proxies perceive a better health status, highlighting the need for age-specific approaches in SMA management and the potential optimistic bias associated with proxy reporting on perceived health outcomes. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is a genetic disorder primarily caused by mutations in the SMN1 gene, leading to motor neuron degeneration and muscle atrophy, affecting multiple organ systems. Nusinersen treatment targets gene expression and is expected to enhance the motor function of voluntary muscles in the limbs and trunk. Motor skills can be assessed through specific scales like the Revised Upper Limb Module Scale (RULM) and Hammersmith Functional Motor Scale Expanded (HFMSE). This study aims to evaluate the influence of nusinersen on the motor skills of patients with SMA Type 2 and 3 using real-world data collected over 54 months. A prospective longitudinal study was conducted on 37 SMA patients treated with nusinersen, analyzing data with R statistical software. The outcomes revealed significant improvements in motor functions, particularly in SMA Type 3 patients with higher RULM and HFSME scores. Additionally, GEE analysis identified time, type, age, and exon deletions as essential predictors of motor score improvements. The extended observation period is both a major strength and a limitation of this research, as the dropout rates could present challenges in interpretation. Variability in responses, influenced by genetic background, SMA type, and onset age, highlights the need for personalized treatment approaches. [ABSTRACT FROM AUTHOR]

Background and Objectives: The goal of this study was to assess the impact of supplementation with a combination of nutrients on metabolic-dysfunction-associated steatotic liver disease (MASLD)-related liver parameters, and other parameters related to metabolic syndrome in adults with obesity. These measurements included anthropometric and lipid profiling, and FibroScan technology (controlled attenuation parameter (CAP) and transient elastography (TE) values). Materials and Methods: A double-blind, placebo-controlled pilot clinical trial was conducted over a three-month treatment period. Adults with metabolic syndrome and obesity were allocated to receive either a cocktail of nutrients with defined daily dosages (5-MTHF, betaine, alpha-linolenic acid, eicosapentaenoic acid, choline bitartrate, docosahexaenoic acid, and vitamin B12) or a placebo. The participants were evaluated at the start and the end of the three-month treatment period. Results: A total of 155 participants entered the study, comprising 84 in the treatment group and 71 in the placebo group. The administration of the nutritional supplement resulted in a notable reduction in both CAP and TE scores when compared to the placebo group. The treatment group exhibited a mean reduction in CAP of 4% (p < 0.05) and a mean reduction in TE of 7.8% (p < 0.05), indicative of a decline in liver fat content and fibrosis. Conclusions: The supplementation over a period of three months led to a significant amelioration of liver fibrosis and steatosis parameters in adults with metabolic syndrome and obesity. These findings suggest that this supplementation regimen could be a beneficial adjunct therapy for improving liver health in adults with obesity-induced MASLD. [ABSTRACT FROM AUTHOR]

Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment. [ABSTRACT FROM AUTHOR]

Dilated cardiomyopathy (DCM) represents a group of disorders affecting the structure and function of the heart muscle, leading to a high risk of heart failure and sudden cardiac death (SCD). DCM frequently involves an underlying genetic etiology. Genetic testing is valuable for risk stratification, treatment decisions, and family screening. Romanian population data on the genetic etiology of DCM are lacking. We aimed to investigate the genetic causes for DCM among Romanian adult patients at tertiary referral centers across the country. Clinical and genetic investigations were performed on adult patients presenting to tertiary hospitals in Romania. The genetic investigations used next-generation sequencing panels of disease-associated DCM genes. A total of 122 patients with DCM underwent genetic testing. The mean age at DCM diagnosis was 41.6 ± 12.4 years. The genetic investigations identified pathogenic or likely pathogenic variants in 50.8% of participants, while 25.4% had variants of unknown significance. Disease-causing variants in 15 genes were identified in people with DCM, with 31 previously unreported variants. Variants in TTN, LMNA, and DSP explained 75% of genetic causes for DCM. In total, 52.4% of patients had a family history of DCM/SCD. Left ventricular ejection fraction of <35% was observed in 41.9% of patients with disease-causing variants and 55% with negative or uncertain findings. Further genotype-phenotype correlations were explored in this study population. The substantial percentage (50.8%) of disease-causing variants identified in patients with DCM acknowledges the importance of genetic investigations. This study highlights the genetic landscape in genes associated with DCM in the Romanian population. [ABSTRACT FROM AUTHOR]

Background: The plasma level of antipsychotics and their metabolites depends on the activity of the cytochrome P450 (CYP) system in the liver. This research aims to test the individual response variability to atypical antipsychotic drugs, depending on the activity of the CYP2D6 enzyme. Methods: In a prospective, noninterventional study, we included 56 adolescents, 51.79% male, diagnosed with schizophrenia. The patients underwent DNA sampling for genotyping SNP by RT-PCR and CYP* allelic variants using Applied Bio-systems™ TaqMan® Assays Foster City, CA, USA). and clinical and paraclinical assessments. The effectiveness of the therapy was evaluated with the PANSS scores at baseline and 3, 6, and 12 months after the initiation of an atypical antipsychotic treatment. Results: Based on the genotyping results, the patients were divided into slow metabolizers (Group 1), extensive metabolizers (Group 2), and intermediate metabolizers (Group 3). The PANSS score showed a significant decrease in Group 2, compared to Group 3 after 3 (p = 0.02), 6 (p = 0.0009), and 12 months (p < 0.0001). The patients in Group 1 showed high PANSS scores, and those in Group 2 had fewer adverse reactions than the other groups. Conclusions: Assessing the CYP2D6 polymorphism may be useful in clinical pediatric psychiatric practice towards improving clinical results and patients' quality of life. [ABSTRACT FROM AUTHOR]

Background and Objectives: Nucleotide delivery has emerged as a noteworthy research trend in recent years because of its potential utility in addressing a range of genetic defects resulting in the presence of incorrect nucleotides. The primary goals of this research were to create and to characterize polyurethane microstructures, with the aim of utilizing them for nucleotide transport. Materials and Methods: Two samples were prepared using an aliphatic diisocyanate in reaction with a mixture of polyethylene glycol and polycaprolactone diol, where 2′-deoxycytidinic acid was used as the active agent and glycerol 1,2-diacetate was used as an enhancer of the aqueous solubility. The solubility, pH, size distribution, and surface charge of the samples were measured, and encapsulation efficacy and release, cell proliferation, and irritation tests on mouse skin were conducted. Results: The results showed almost neutral acidic–basic structures with a high heterogeneity, and a medium tendency to form clusters with non-cytotoxic and non-irritative potentials. Conclusions: Future research could explore the efficacy of this carrier in delivering other nucleotides, as well as investigating the long-term effects and safety of these microstructures in vivo. [ABSTRACT FROM AUTHOR]

Neonatal diffuse cutaneous mastocytosis (NDCM) is defined as the infiltration of the epidermis by a clonal proliferation of mast cells, observed at birth, without initial signs of systemic involvement. The typical driver mutation is in the KIT gene. We report a rare case of a boy, born at term, already presenting at birth with generalized subcutaneous nodules on the face, scalp, trunk, back, hands, and feet. The spleen, liver, and inflammatory markers were normal at birth. Tryptase was significantly elevated. A bone marrow biopsy showed no mast cell involvement at age 2 months. A punch biopsy at age 2 months revealed CD117-positive cells diffusely infiltrating the skin, with subsequent DNA NGS sequencing for the formalin-fixed paraffin embedded tissue (FFPE) identifying the pathogenic NM_000222.3:c.1504_1509dup; p.(Ala502_Tyr503dup) variant in the KIT gene previously associated with cutaneous mastocytosis. At 2 years follow-up, he had splenomegaly and multiple cervical and inguinal adenopathy, while the skin nodules persisted, especially on the scalp with accompanying pruritus. He received oral and local sodium cromoglycate, oral antihistamines, antibiotic cream for skin infection, and iron supplementation; however, compliance to treatment was relatively low. The prognosis is difficult to predict, as he developed systemic involvement, failure to thrive, and mild psychomotor delay. A case aggregation of NDCM reported in the literature was performed to provide a comprehensive overview of this rare pathology, to better understand the prognosis. NDCM is a life-threatening disease with severe complications. Almost half had severe complications, such as mast hepatosplenomegaly, adenopathy, bacterial infections, mast cell leukaemia, and systemic involvement. [ABSTRACT FROM AUTHOR]

Background: High empathy levels in health professionals represent an important factor in patient satisfaction and compliance, reducing patient anxiety and pain, enhancing diagnostic and clinical results and strengthening patient empowerment. Our purpose was to determine empathy level and to identify which of the socioeconomic status (SES) and psychological factors were able to predict highest empathy levels in a Romanian sample of community nurses. Methods: Community nurses were invited in January-February 2023 to provide an answer to an online survey, using an advertisement in a professional network. 1580 participants voluntarily agreed to take part in this study, with a response rate of 85.8%. The survey included the Toronto Empathy Questionnaire, the Reading the Mind in the Eyes Test and socio-economic status items. A multivariate model for the prediction of belonging to the highest quartile of empathy as opposed to lowest quartile was constructed using SES and psychological variables as factors. Results: The mean (SD) empathy level was 49.1 (6.7), with 74.7% of participants over the threshold of high empathy level. In the multivariate analysis, predictors of belonging to the highest quartile of TEQ, as opposed to the lowest quartile were: low self-perceived stress level (OR = 2.098, 95%CI 1.362–3.231), higher experience as a community nurse (OR = 1.561, 95%CI 1.120–2.175) and higher levels of the theory of mind (OR = 1.158, 95%CI 1.118–1.199), when controlling for gender, age, relationship status, presence of children in families, education, and income. Conclusions: Training programs targeting to increase emotional competences, reduce levels of stress and encourage personnel retention have the potential to increase the quality of community nursing in Romania. [ABSTRACT FROM AUTHOR]

Major depressive disorder (MDD) is one of the leading causes of disease burden worldwide and affected patients frequently report impairments in quality of life (QoL). Therefore, the present research aimed to identify predictors of domain-specific QoL changes in MDD patients following the acute phase of pharmacological treatment (3-month). This study is a prospective, naturalistic, and observational analysis on 150 patients. Depressive symptoms, QoL, overall pain intensity, and functionality were assessed using Hamilton Depression Rating Scale, World Health Organization Quality of Life scale—abbreviated version, Visual Analog Scale, and Sheehan Disability Scale, respectively. Reductions in symptom severity and disability were predictors of improvement across all domains of QoL. Pain intensity reduction was a predictor of increases in the physical aspect of QoL. A reduced number of psychiatric hospitalizations and being in a relationship predicted an improvement of QoL in the psychological domain whereas a positive history of suicidal attempts was associated with better social relationships QoL. The predictive models explained 41.2% and 54.7% of the variance in psychological and physical health domains of QoL, respectively. Awareness of sociodemographic and changes in clinical factors that impact the change in domain-specific QoL might help in shaping personalized treatment. [ABSTRACT FROM AUTHOR]

Drug use represents an increasing health problem worldwide. Cannabis and tobacco use are particularly prevalent and are responsible for many kinds of negative consequences on physical and mental health. Some of these consequences are related to oral health and contribute to the effect produced by socio-economic status and other manifestations associated with drug consumption that led to oral health often being neglected. In this context the present review aims to briefly summarize some of the literature data on the subject. [ABSTRACT FROM AUTHOR]

Background: Depression is one of the most common psychiatric disorders and sleep disturbances are often described by patients suffering from depressive disorders. Objective: The aim of our research was to analyses the relationship between depression and sleep quality in a group of inpatients diagnosed with depressive disorder. Materials and methods: We conducted an observational, cross-sectional study on 45 adult inpatients suffering from depressive disorder. Patient Health Questionnaire -9 (PHQ-9) and Sleep Quality Scale (SQS) were used to assess level of depression and quality of sleep, respectively. Bivariate Pearson correlations were used to test the relationship between PHQ total scores and on SQS Factors and total scores. Results: Positive and statistically significant correlations were found between total score of PHQ-9 and total score of SQS (r=0.77, p< .0001), Factor 1 Daytime dysfunction (r= 0.73, p< .0001), Factor 2 Restoration after sleep (r= 0.73, p< .0001), Factor 3 Difficulty in falling asleep (r= 0.48, p< .001). Conclusion: Our findings are in accordance with other reports emphasizing the relationship between sleep and depressive symptoms. Also, our results point out to the importance of a thorough sleep assessment and proper treatment in patients with depressive disorders. [ABSTRACT FROM AUTHOR]

Alcohol use disorders (AUDs) are associated with many co-morbidities, generating increased costs for healthcare systems worldwide. Part of these costs are due to hospital admissions necessary for treatment. Objectives: Our research aimed to assess the prevalence and characteristics of cases with AUDs as a primary or secondary diagnosis over a three-month period in a general psychiatric ward of the Clinical Psychiatric Hospital "Prof. Dr. Alexandru Obregia". Methods: We conducted an observational, cross-sectional and retrospective study. Only admissions of adult male patients with a primary or secondary diagnosis at discharge of AUDs were included. Data collected from the hospital's database included: age, gender, primary and secondary diagnoses at discharge, length of stay, type admission (voluntary/non voluntary) and character of admissions (emergency or non-emergency), health insurance and employment status. Results: 99 admissions of male patients, with a primary or secondary diagnosis related to alcohol use were identified from a total of 252 admissions. The mean age ± SD of the patients was 48.04 (±11,93). AUDs were present in 8 (8.08%) cases as a primary diagnosis and in 91 (91.92%) as a secondary diagnosis. For the admissions in which AUDs were present as a secondary diagnosis, the most frequent primary diagnosis was represented by different types of 'depressive disorders' 44 (48.35%) and 'personality disorders' 19 (20.88%). Other important findings show a high percent of involuntary admission 45 (45.45%) and a low percent of patients with health insurance 44 (44.44%). Conclusions: Findings in our study show a high number of AUDs as a secondary diagnosis suggesting a need for further, more extensive research to provide a more accurate picture of the real prevalence and consequences of AUDs in Romanian psychiatric hospitals. [ABSTRACT FROM AUTHOR]

Multisubunit RNA polymerases (RNAPs) associate with initiation factors (σ in bacteria) to start transcription. The σ factors are responsible for recognizing and unwinding promoter DNA in all bacterial RNAPs. Here, we report two cryo-EM structures of cyanobacterial transcription initiation complexes at near-atomic resolutions. The structures show that cyanobacterial RNAP forms an “SI3-σ” arch interaction between domain 2 of σA (σ2) and sequence insertion 3 (SI3) in the mobile catalytic domain Trigger Loop (TL). The “SI3-σ” arch facilitates transcription initiation from promoters of different classes through sealing the main cleft and thereby stabilizing the RNAP-promoter DNA open complex. Disruption of the “SI3-σ” arch disturbs cyanobacteria growth and stress response. Our study reports the structure of cyanobacterial RNAP and a unique mechanism for its transcription initiation. Our data suggest functional plasticity of SI3 and provide the foundation for further research into cyanobacterial and chloroplast transcription. [ABSTRACT FROM AUTHOR]

Alcohol use disorders are common in the global population. The consequences of these disorders manifest themselves at both personal and societal levels. Among the most important consequences are increased levels of somatic and psychiatric co-morbidities, accidents, legal problems, marital and family difficulties, and impaired work performance. Thus, disability resulting from alcohol use disorders can be measured by a whole variety of parameters. Objectives: Our research aims to assess some aspects of disability in a group of male patients diagnosed with alcohol use disorders. Methods: For this purpose, a descriptive cross-sectional study was conducted on male patients admitted to the hospital "Prof. Dr. Al. Obregia" and meeting ICD-10 criteria for alcohol use disorders. In addition to socio-demographic and clinical information, data regarding the number of missed working days and less productive working days due to alcohol use disorders and the number of psychiatric and non-psychiatric admissions in the year prior to current hospital admission were collected. Results: 50 subjects met the criteria and participated in the study. The mean number of psychiatric and non-psychiatric hospitalizations was 1.58 and 2.68 respectively. The number of missed working days and less productive working days was 2.6 and 3.68 respectively. Conclusions: Findings in our study show decrease work productivity and increase use of hospital services for psychiatric and non-psychiatric disorders as part of disabling effect of alcohol use disorders. [ABSTRACT FROM AUTHOR]

Background: In the context of various changes in people's lives due to COVID-19 pandemic it is of interest to evaluate possible consequences on oral health. Objective: The aim of our research was to identify the main beliefs and habits related to oral health in a group of university students and to determine whether and how they have changed during COVID-19 pandemic. Materials and Methods: A cross- sectional study on university students from Bucharest Universities was conducted in 2021 using an online distributed questionnaire that was developed by the authors of the study in accordance with the aims of the research. Results: The survey was completed by 70 university students most of them (85.7%) from medical faculties. 82.9% of subjects declared no increase in their fast-food consumption and 37.1 % declared an increase in their sweets consumption since the beginning of the pandemic. Changings in smoking and alcohol consumptions happened in a similar extent in both directions. Most subjects perceived no change in their preoccupation with oral health and declared no change in their habits of visiting the dentistry. Conclusions: Overall the results of our study showed no change in the oral health of the subjects since the beginning of pandemic with a limited negative change in their habits regarding sweets consumption. Changings in both directions were noticed for alcohol consumption and smoking habits. [ABSTRACT FROM AUTHOR]

Background: Depression is one of the most common psychiatric disorders frequently associated with other serious chronic medical diseases. This association is considered to contribute to decreased life expectancy and quality of life in the affected people. Even though oral health represents an important part of the general health and has a significant role in peoples' quality of life, data regarding the relationship between depression and oral health are still insufficient. Objective: The aim of our research was to identify oral care habits and perceived oral health status in a group of subjects suffering from depressive disorder. Materials and Methods: A cross-sectional descriptive study was designed and subjects with a primary diagnostic of depressive disorder formulated according to ICD-10 were included. The subjects were evaluated using a questionnaire that was especially developed by the authors for the purpose of the study. Results: 45 subjects aged between 25 and 81 years, mostly women (86.67%), were enrolled in the study. Only 40% of the participants in the study were brushing their teeth daily, once or twice, while 20% of them declared that they have never brushed their teeth. Cleaning habits after eating were absent in 64.4% of the subjects. The time since last visit in a dental office was of at least 12 months for the large majority of the subjects (75.55%) and the first two reasons for visiting the dental office were pain (71.11 %) and chewing inability (13.33%). Oral health status was perceived as being unacceptable by more than a half (55.56%) of the subjects. Conclusions: Patients with depressive disorder enrolled in the study had, in a large proportion, poor oral care habits and poor reported oral health status. [ABSTRACT FROM AUTHOR]

Even though since the beginning of the COVID-19 pandemic, the literature became more and more abundant on data and hypotheses about the various consequences on people's lives, more clarity needs to be added to the existing information. Besides the stressful experiences related to the COVID-19 pandemic, SARS-CoV-2 infection has been proven to impact brain functioning through direct and indirect pathogenic mechanisms. In this context, we report a case of a patient presenting with a first episode of psychosis following COVID-19. In our case, a 28-year-old male patient with no personal or family psychiatric history developed psychotic symptoms (delusions, hallucinations, and disorganized behaviour) that required antipsychotic treatment and inpatient hospitalization one week after he was discharged from the hospital after COVID-19. At the six-month and one-year follow-up, the patient was in remission without any psychotic signs or symptoms. A brief review of the literature is also provided. The case presented in this article outlines the possibility that the post-COVD-19 recovery period might be a crucial time for the onset of acute psychotic disorder, and therefore, routine psychiatric assessments should be carried out during all phases of the disease. A clearer picture of the impact of the COVID-19 pandemic on mental health will most likely be revealed in the future as many consequences need long-term evaluation. [ABSTRACT FROM AUTHOR]

This research aimed to investigate the relationship between quality of life and level of functioning in a group of Romanian patients with schizophrenia. A cross-sectional, observational, prospective study on 47 patients with schizophrenia was conducted. Socio-demographic and clinical data were documented and WHOQOL-BREF and Life Skills Profile-16 instruments were further administered. To examine the correlation between variables, Person correlation test was employed. The mean age of the sample was 38.32±12.32 years and 66% of the patients were males. Significant correlations were found between all aspects of the quality of life (physical health, psychological, social relationships and environmental health) and total score of LSP-16 (r=-0.426, p<0.01; r=- 0.396, p<0.01; r=-0.452, p<0.01; r=-0.470, p<0.001, respectively). Our research revealed that lower overall functionality in patients with schizophrenia was associated with a decreased quality of life. The development and implementation of new psychological and pharmacological tools in clinical practice to improve these outcomes appears to be critically needed. [ABSTRACT FROM AUTHOR]

Background: Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the chromosomal microarray analysis. Methods: We analyzed 189 patients diagnosed with global developmental delay/intellectual disability, presented in Clinical Emergency Hospital for Children, Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic and internal malformations evaluation, psychiatric, neuropsychological and metabolic evaluation, standard karyotyping. Genomic analysis was done using chromosomal microarray analysis. Results: Pathogenic findings (including uniparental disomy) and variants of unknown significance were detected in 53 of 189 patients (28.04%). Pathogenic copy number variants and uniparental disomy were observed in 35 of 189 patients (18.51%). Two patients presented uniparental disomy for chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. Within the category of pathogenic findings, the recurrent copy number variants were seen in 21 of 35 patients (60%). Conclusions: The increased percentage of pathogenic structural variants observed in patients with global developmental delay/intellectual disability analyzed by chromosomal microarray technique supports its use in patients with a non-specific phenotype such as these neurodevelopmental disorders. The high percentage of recurrent pathogenic variants between these findings is a finding that support their initial evaluation when a genetic testing algorithm could be a useful option. [ABSTRACT FROM AUTHOR]

Glycosphingolipids (GSLs) play numerous roles in cellular processes, including cell proliferation, apoptosis, inflammation, and cell signaling. Alteration of the GSLs metabolism leads to the accumulation of particular species of GSLs, which can lead to various pathologies, including carcinogenesis and metastasis; in essence, all neoplasms are characterized by the synthesis and aberrant organization of GSLs expressed on the cell surface. Secondary brain tumors make up the majority of intracranial cancers and generally present an unfavorable prognosis. In the present work, a native GSL mixture extracted and purified from a secondary brain tumor with primary pulmonary origin was obtained through extraction and purification and analyzed by MALDI TOF mass spectrometry. Research in the field of lipidomics could offer new data for the understanding of brain tropism and metastatic pathways, by studying the glycolipid molecules involved in the process of metastasis in general and in the production of brain metastases in particular. This could shed new light on the pattern of lipid glycosylation in secondary brain tumors, with a great impact on the effectiveness of cancer therapies, which could be adapted to the specific molecular pattern of the tumor. [ABSTRACT FROM AUTHOR]

Since depression remains a major public health issue there is a constant need for new and more efficient therapeutic strategies based on the mechanisms involved in the aetiology of depression. Thus, the pathogenic link between depression and inflammation is considered to play a potential key role in the development of such therapies. This review summarizes the results of various pharmacological (non-steroidal anti-inflammatory drugs, aspirin, cyclooxygenase inhibitors, cytokine inhibitors, corticosteroids, statins, minocycline, N-acetyl cysteine, omega-3 fatty acids and probiotics) and non-pharmacological interventions (electroconvulsive therapy, physical exercise and psychological therapy) and outlines their efficacy and discusses potential challenges. Both conventional and non-conventional anti-inflammatory drugs showed promising results according to the specific group of patients. The pre-existing pro-inflammatory status was, in most cases, a predictor for clinical efficacy and, in some cases, a correlation between clinical improvement and changes in various biomarkers was found. Some of the non-pharmacological interventions (physical exercise and electroconvulsive therapy) have also showed beneficial effects for depressive patients with elevated inflammatory markers. Treatments with anti-inflammatory action may improve clinical outcomes in depression, at least for some categories of patients, thus opening the way for a future personalised approach to patients with unipolar depression regarding the inflammation-related mechanism. [ABSTRACT FROM AUTHOR]

Objectives: In this study, we set three significant objectives: the first examines possible differences in personal and environmental factors that influence the quality of life experienced by patients with Alzheimer's disease dementia; the second examines differences in quality of life from the patient's and their relatives' perspectives. The third goal is to determine whether personal and socio-demographic characteristics have an impact on the quality of life experienced by Alzheimer's disease dementia patients. Materials and methods: Between March 2018 and April 2019, data were taken from the caregivers of 145 beneficiaries institutionalized in centers for the elderly in Arad County. Assessment tools such as MMSE, Reisberg, Cornell, GAFS, and QOL-AD scales were used. IBM SPSS Statistics Version 22 software (IBM Corp for Windows, Armonk, NY), JASP, and JAMOVI software were used to analyze statistical data. Results: Exact Fisher test results revealed statistical significance for: level of functionality, level of depression, number of interactions, visits, type of institutionalization and fee (F level of functionality = 10,280, F depression in dementia = 18,804, F visits = 16,858, F type institutionalization = 14,496, F tax = 11,136, F interactions = 19,768, p <0.05). The verification of statistically significant differences in the quality of life according to the perspective of the patient and his relatives revealed that this hypothesis is supported by statistical data (U = 5622, p <0.0001). Alzheimer's patients' perceived quality of life is influenced by personal and sociodemographic characteristics. We employed the ordinal form of the research variables for this, and the regression model we developed turned out to be statistically significant (R2 = 0.65, p 0.001). Conclusions: The level of functionality, type of institutionalization, fee, and interactions influence the quality of life. [ABSTRACT FROM AUTHOR]

Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case. [ABSTRACT FROM AUTHOR]

Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the DNAJC21 gene were recently discovered to cause bone marrow failure syndrome type 3, having phenotypic overlap with Fanconi anemia, dyskeratosis congenita, Shwachman–Diamond syndrome, and Diamond–Blackfan anemia. Herein, we report an 8-year-old boy, with normal intellect, presenting bone marrow failure; growth retardation; failure to thrive; recurrent infections (including sepsis); cryptorchidia; skeletal, skin, teeth, and hair abnormalities; joint hypermobility; eczema; palpebral ptosis; high myopia; rod–cone retinal dystrophy; and short telomeres. He underwent several tests and evaluations, including genetic investigations (panel and exome sequencing), before the DNAJC21 gene was known to cause disease. Whole-genome sequencing performed at the age of 7 years, identified two novel, pathogenic, and compound heterozygous variants in the DNAJC21 gene: NM_001012339.3:c.148C>T (stopgain-maternal origin), p.Gln50∗ and c.643_644delinsTTT (frameshift paternal origin), and p.Lys215Phefs∗71. He received aggressive treatments for his multisystem disease: blood cell transfusions, high-dose corticosteroids, immunoglobulins, multiple antibiotics, vitamins, growth hormone, and others. However, allogeneic hematopoietic stem cell transplantation was avoided. The clinical evolution of bone marrow failure and recurrent infections stabilized with age, yet the myopia progressed. Exocrine pancreatic insufficiency was not detected. This report widens the molecular and clinical understanding of bone marrow failure syndrome type 3. Genome sequencing directed a precise diagnosis that improved patient management and enabled family genetic counseling. [ABSTRACT FROM AUTHOR]

In depth understanding of the dietary patterns of individuals with obesity is needed in practice and research, in order to support dietitians and physicians in the design and implementation of nutritional management. We aimed to analyze the consistency of energy, macro-, and micronutrient reported intakes in four non-consecutive 24-h dietary recalls from 388 adults with obesity using information collected in the NutriGen Study (ClinicalTrials.gov, NCT02837367). Significant decreases were identified for reported energy and several, macro- and micronutrient intakes, between the first and subsequent 24-h recalls. Significant differences of reported intakes were identified in sensitivity analyses, suggesting that the first recall (also the only one performed on site, face-to-face) might be a point of bias. A comparison of the differences in intakes between weekend and weekday, after adjustment for false discovery rate were non-statistically significant either in male, females, or in total. To overcome this potential bias, studies should be carefully conducted, starting from the design phase, through to the analysis and interpretation phases of the study. Prior to averaging specific intakes across all sessions of reporting, a preliminary analysis must be conducted to identify if a certain time point had significant differences from all other time points and overview potential sources of bias: reporting bias, training bias, or behavioral changes could be responsible for such differences. [ABSTRACT FROM AUTHOR]

Polyunsaturated fatty acids are involved in a wide variety of biological functions. Linoleic acid and alpha-linolenic acid are two essential fatty acids that the body cannot synthesize. The conversion rates in the body depend on FADS2 genetic variants. Certain variations in this gene are directly responsible for the low levels and poor conversion efficiency of the delta-6 desaturase enzyme, resulting in low circulating levels of docosahexaenoic acid. In this study, we evaluated the impact of the rs526126 FADS2 gene polymorphism on fatty acid levels in a group of two hundred children (n = 95 males, n = 105 females) aged 7–18 years, with obesity defined by BMI > +2 SD. Fatty acid quantification was performed by LC-MS/MS while genotyping for genetic variants was performed using a custom-made hotspot sequencing panel of 55 SNPs. Our results suggest that rs526126 FADS2 gene polymorphism specifically impacts the plasma levels of free n-3 polyunsaturated fatty acids. Finally, the presence of the minor allele G of rs526126 could have beneficial effects, as it was associated with higher levels of free docosahexaenoic acid in plasma, especially in children with low n-3 intakes. [ABSTRACT FROM AUTHOR]

Examining specific patterns of major cranio-facial alterations through cephalometric measurements in order to improve the Prader–Willi (PWS) syndrome diagnostic poses a major challenge of identifying interlinkages between numerous credentials. These interactions can be captured through probabilistic models of conditional independence between heterogeneous variables. Our research included 18 subjects (aged 4 to 28 years) genetically diagnosed with Prader–Willi syndrome and a healthy control group (matched age and sex). A morphometric and cephalometric analysis was performed upon all the subjects in order to obtain the needed specific data. We have, therefore, firstly deployed several integrated Gaussian graphical models (GGMs) to capture the positive and negative partial correlations and the intensity of the connections between numerous credentials configured to determine specific cranio-facial characteristics of patients with PWS compared to others without this genetic disorder (case-control analysis). Afterwards, we applied structural equation modelling (SEM) with latent class analysis to assess the impact of these coordinates on the prevalence of the Prader–Willi diagnostic. We found that there are latent interactions of features affected by external variables, and the interlinkages are strapping particularly between cranial base (with an important role in craniofacial disharmonies) and facial heights, as important characteristic patterns in determining the Prader–Willi diagnostic, while the overall patterns are significantly different in PWS and the control group. These results impact the field by providing an enhanced comprehensive perspective on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome that can be used as benchmarks in determining the diagnostic of this rare genetic disorder. Furthermore, the two innovative exploratory research tools applied in this paper are very useful to the craniofacial field to infer the connections/dependencies between variables (particularly biological variables and genes) on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome. [ABSTRACT FROM AUTHOR]

Attention Deficit Hyperkinetic Disorder (ADHD) is a neurobiological behavioral disorder of the child, adolescent, and adult characterized by problems of concentration, hyperactivity, and impulsivity caused by an imbalance of chemical neurotransmitters in the brain—dopamine and noradrenaline. ADHD first-line drugs are divided in psychostimulant, as Methylphenidate and Amphetamines and non-psychostimulant medications-Atomoxetine (the only representative non-psychostimulant medication approved in our country in children and adolescents). The purpose of our research was to assess the clinical evolution of patients with ADHD based on the drug treatment that is administered: psychostimulant or non-psychostimulant. Both psychostimulant—Methylphenidate, and non-psychostimulant therapy—Atomoxetine, proved to significantly improve the symptoms of attention deficit hyperkinetic disorder. There was a significant reduction in the severity of ADHD symptoms at six months and at one year from the start of treatment in the case of the psychostimulant group, whereas in the non-psychostimulant group, the significant reduction in severity of symptomatology occurs only at six months after the start of treatment. We can conclude that both types of drugs are effective in reducing the severity of symptoms and in improving the clinical condition of patients with ADHD, but the comparative analysis of the two groups demonstrated that significantly better results are obtained with psychostimulant treatment. [ABSTRACT FROM AUTHOR]

Ketogenic Diet (KD) represents a specific type of diet which is based on the process of ketosis. Even since 1925, KD began to be used as a treatment for drug-resistant epilepsy but recently, KD has begun to take part in the treatment of many chronic diseases. In this review we look at the role and the implications of KD in some genetic disorders: pharmacoresistant epilepsy, Alzheimer's disease, Angelman syndrome, glucose transporter type 1 deficiency syndrome (Glut1-DS), glycogen storage diseases (GSDs) and pyruvate dehydrogenase complex deficiency (PDCD). The review aims to provide clinicians a snapshot of the genetic factors that could have an impact on the response to patient's response to KD. As genetic variants may influence the response to KD, the implementation of nutrigenomics in the personalized nutrition of the patient with KD would be the key for the best patient care. [ABSTRACT FROM AUTHOR]

Anorexia Nervosa (AN) in defined by restriction of energy intake leading to low body weight, an intense fear of gaining weight, as well as body image disturbance. AN has the highest mortality rate of any psychiatric disorder and unfortunately, treatment methods are often inefficient. Genetic factors have a substantial role in the etiology of AN. The purpose of this review is to make a brief synthesis of the current knowledge regarding the genetic factors involved in AN disorder. Several studies that have an impact in understanding the role of genetics in the AN architecture were discussed and chronologically presented. As AN represents a difficult treat-to treat illness, all the research that has been made until now was led by the motivation and goal of finding specific pharmaceutical targets for the treatment and prevention of AN. Although there has been made substantial progress in understanding the genetic architecture of AN and its relation to other disorders, further investigation still needs to be done with hope and determination. [ABSTRACT FROM AUTHOR]

Introduction: Insulin resistance plays a major role in metabolic syndrome and is recognized as the most common risk factor for non-alcoholic fatty liver disease (NAFLD). Identifying predictors for insulin resistance could optimize screening and prevention. Purpose: To evaluate the contribution of multiple single nucleotide polymorphisms across genes related to NAFLD and choline metabolism, in predicting insulin resistance in children with obesity. Methods: One hundred fifty-three children with obesity (73 girls), aged 7– 18 years, were evaluated within the NutriGen Study (ClinicalTrials.gov-NCT02837367). Insulin resistance was defined by Homeostatic Model Assessment for insulin-resistance cut-offs that accommodated pubertal and gender differences. Anthropometric, metabolic, intake-related variables, and 55 single nucleotide polymorphisms related to NAFLD and choline metabolism were evaluated. Gene–gene interaction effects were assessed using Multiple Data Reduction Software. Results: Sixty percent (93/153) of participants showed insulin resistance (58.7% of boys, 63% of girls). Children with insulin resistance presented significantly higher values for standardized body mass index, triglycerides, transaminases and plasma choline when compared to those without insulin resistance. Out of 52 single nucleotide polymorphisms analysed, the interaction between genotypes CHDH(rs12676) and PNPLA3(rs738409) predicted insulin resistance. The model presented a 6/10 cross-validation consistency and 0.58 testing accuracy. Plasma choline levels and alanine aminotransferase modulated the gene interaction effect, significantly improving the model. Conclusion: The interaction between genotypes in CHDH and PNPLA3 genes, modulated by choline and alanine aminotransferase levels, predicted insulin-resistance status in children with obesity. If replicated in larger cohorts, these findings could help identify metabolic risk in children with obesity. [ABSTRACT FROM AUTHOR]

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Background: In forensic genetics, mutation analysis for different short tandem repeat (STR) loci is important for paternity and maternity testing. The aim of this study is determining the most frequent loci with mutations in a population of 743 individuals in western Romania in 246 kinship cases. These include 240 paternity and 6 maternity tests analyzed at the Laboratory of Forensic Genetics, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. The study was conducted between January 1, 2017, to January 1, 2020. The study aims to analyze the mutation rates for 15 autosomal markers used in this type of testing. The following loci were included in our study: D3S1358, D8S1179, D18S51, D21S11, FGA, TH01, vWA, CSF1PO, D7S820, D13S317, D16S539, D2S1338, D19S433, TPOX, D5S818. Methods: For the reference samples, we used saliva collected on buccal swabs from all individuals. Salivary DNA was quantified on the 7500 real-time PCR equipment (Thermo Scientific, USA). Further, amplification of the DNA samples was performed on a ProFlex PCR System (Thermo Scientific, USA) using Identifiler Plus PCR Amplification kit (Thermo Scientific, USA). Fragment analysis was performed on the 3500 Genetic Analyzer (Thermo Scientific, USA). The genetic profiles were generated by GeneMapper ID-X software version 1.4 (Thermo Scientific, USA). Results: The mutation events in paternity testing were observed in 10 out of the 15 analyzed loci: D21S11, D18S51, D16S539, D8S1179, FGA, D2S441, D19S433, D2S1338, D3S1358, D5S818 and vWA. Paternal mutations were more frequent (63%) than maternal mutations (37%). Conclusions: The results confirm that the mutation rate in paternity tests are more frequent during paternal meiosis compared to maternal. [ABSTRACT FROM AUTHOR]

CHARGE syndrome is an autosomal dominant condition caused by mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene. The present study reported on the case of a 16-month-old female with plurimalformative syndrome, whose etiology was identified by clinical whole-exome sequencing (WES) analysis. Clinical and follow-up assessments identified multiple craniofacial dysmorphisms, congenital defects and functional symptoms, including dysphagia and Marcus Gunn jaw winking synkinesis. Trio-WES analysis was performed for the patient and their parents and the presence of CHARGE syndrome was further indicated using single-molecule real-time sequencing. A de novo pathogenic variant, c.4379_4380del (p.Ile1460Argfs*15), was identified in exon 19 of the CHD7 gene, which resulted in a premature translational stop signal. Trio-WES analysis was used for further investigation, indicating that neither of the patient's parents had the mutation and confirming its de novo nature. To the best of our knowledge, the case of the present study was the first reported case of CHARGE syndrome in Romania with congenital defects including an aberrant right subclavian artery and a horseshoe kidney. CHARGE syndrome was diagnosed in the patient based on the pathogenic mutation in the CHD7 gene. To the best of our knowledge, the present case report is the first to suggest that the CHD7 gene variant is associated with CHARGE syndrome. [ABSTRACT FROM AUTHOR]

Background: Treatment with atypical antipsychotics is today the election therapy for different types of psychosis, but there is a high incidence of endocrine and metabolic disturbances. One of the major enzymes involved in the metabolism of antipsychotics is CYP2D6. Depending on the existing CYP2D6 alleles, the metabolic capacity of the enzyme may vary from very low to very high, so that patients can be grouped into four phenotypic groups: slow, intermediate, extensive (normal), and fast metabolizers. Aim of the study: The aim of the study is to find a relationship between the individual intervariability of CYP2D6 and the incidence of hyperprolactinemia as side effect of atypical antipsychotics. Results: A total of 81 patients with schizophrenia or bipolar disorders, median age 15.74 ± 4 years, were enrolled in the study and prescribed the following atypical antipsychotics: risperidone, aripiprazole, and olanzapine. They were evaluated at 6, 12, and 18 months after the initiation of treatment. Using the TaqMan Genotyping Assay, it has been identified the presence of the CYP2D6*4 allele in 28 patients, representing 34.56% of the total of 81 patients in the study, and CYP2D6*3 allele was identified in 15 patients and the presence of CYP2D6*41 to 11 patients. The allele CYP2D6*5 has not been present to the study patients. The study group has 44 patients which are extensive metabolizers (54%), 34 intermediate metabolizers (42%), and 3 poor (slow) metabolizers (4%). Conclusions: For the slow and intermediate metabolizers, atypical antipsychotics determined a significant increase of prolactinemia with high risk of adverse events. [ABSTRACT FROM AUTHOR]

Background: Genetic markers are routinely used in human identification of paternity, maternity, and kinship cases. We describe a DNA paternity case with one mismatch on SE33 locus between the alleged father (AF) and the child (daughter). Because there was a father-daughter relationship to solve this case we used chromosome XSTRs markers too. Methods: As reference samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). The DNA samples were quantified on a 7500 ABI real-time PCR using the Investigator Quantiplex Pro Kit (Qiagen, Germany). Salivary DNA samples were amplified on a ProFlex PCR System (ThermoFischer, USA) using the multiplex STR markers from the AmpF/STR® NGM Select PCR Amplification Kit (Thermo- Fischer, USA) and Investigator® Argus X-12 QS kit markers (Qiagen, Germany). PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (ThermoFischer, USA). Results: The AF was excluded from paternity on STRs markers due to one mismatch on SE33 locus. To confirm or exclude the paternity, we used the chromosome X-STRs markers, obtaining a perfect match between the AF and his daughter. Conclusions: In paternity testing, where one or two mismatches are present between the child (daughter) and the AF on different loci on STR markers, the use of chromosome X-STRs is needed for the confirmation or exclusion of paternity. [ABSTRACT FROM AUTHOR]

Background: Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed the decipherment of disease aetiology, both in cases of syndromic obesity as well as in cases of isolated or syndromic DD/ID. However, more data are needed to further elucidate the link between the two. The aim of this pangenomic study was to use single nucleotide polymorphism (SNP) array technology to determine the copy number variant (CNV) type and frequency associated with both obesity and DD/ID. Methods: Thirty-six patients were recruited from the Clinical Emergency Hospital for Children, in Cluj-Napoca, Romania during the period 2015–2017. The main inclusion criterion was a diagnosis that included both obesity and DD/ID. Genomic analysis via SNP array technology was performed. Results: Out of the 36 patients, 12 (33%) presented CNVs with a higher degree of pathogenicity (A group) and 24 (66%) presented benign CNVs (B group). The SNP array results for the A group were as follows: pathogenic CNVs in 8/12 patients (67%); variants of unknown significance (VOUS) in 2/12 patients (16%); and uniparental disomy (UPD) in 2/12 patients (16%). Conclusions: Some of these CNVs have already been observed in patients with both obesity and DD/ID, but the others were noticed only in DD/ID patients and have not been described until now in association with obesity. [ABSTRACT FROM AUTHOR]

Tuberculosis (TB) is recognised as one of the most pressing global health threats among infectious diseases. Bacteriophages are adapted for killing of their host, and they were exploited in antibacterial therapy already before the discovery of antibiotics. Antibiotics as broadly active drugs overshadowed phage therapy for a long time. However, owing to the rapid spread of antibiotic resistance and the increasing complexity of treatment of drug-resistant TB, mycobacteriophages are being studied for their antimicrobial potential. Besides phage therapy, which is the administration of live phages to infected patients, the development of drugs of phage origin is gaining interest. This path of medical research might provide us with a new pool of previously undiscovered inhibition mechanisms and molecular interactions which are also of interest in basic research of cellular processes, such as transcription. The current state of research on mycobacteriophage-derived anti-TB treatment is reviewed in comparison with inhibitors from other phages, and with focus on transcription as the host target process. [ABSTRACT FROM AUTHOR]

2,5-Furandicarboxylic acid and itaconic acid are both important biobased platform chemicals and their terpolymer with 1,6-hexanediol (HDO) can be the starting point for a new class of reactive polyesters, with important applications. The green synthetic route developed in this study involves a biocatalytic condensation polymerization reaction of dimethyl furan-2,5-dicarboxylate (DMFDC) and dimethyl itaconate (DMI) with HDO in toluene at 80°C, using commercial immobilized lipases from Candida antarctica B. In the best conditions, the formed polymer product was isolated with more than 80% yield, containing about 85% terpolymer with average molecular mass of about 1200 (Mn, calculated from MALDI-TOF MS data) and 15% DMFDC_HDO copolymer. Considering the higher reactivity of DMFDC, the composition of the synthesized polymer can be directed by adjusting the molar ratio of DMFDC and DMI, as well as by extending the reaction time. Structural analysis by NMR demonstrated the regioselective preference for the carbonyl group from DMI adjacent to the methylene group. The biocatalyst was successfully reused in multiple reaction cycles. [ABSTRACT FROM AUTHOR]

Background: Previous genome-wide association studies (GWAS) identified IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 as candidate genes for insulin resistance and type 2 diabetes (T2D). We investigated the associations of these previously reported common variants in these genes with insulin resistance in overweight children from Romania and Moldova. Methods: Six single nucleotide polymorphisms (SNPs), IGF1 (rs35767), IRS1 (rs2943634), GCKR (rs780094), PPARG (rs1801282), GCK1 (rs1799884) and KCTD15 (rs29941), were genotyped in 100 overweight children along with clinical and metabolic parameters. Homeostatic model assessment of insulin resistance (HOMA-IR) above 3.4 (defining insulin resistance) was used as the outcome. Results: Children differed in insulin resistance status despite having similar body mass index (BMI) standard deviation scores (SDS) (World Health Organization, [WHO] reference). The identified predictors for altered insulin metabolism were higher cholesterol levels, higher diastolic blood pressure and higher waist-to-hip-ratio (as a marker for increased abdominal fat). None of the SNPs showed significant association with increase in the risk for insulin resistance in children (p range=0.478–0.724; odds ratio [OR] range=1.924–4.842); however, the risk allele in GCKR (rs780094, p=0.06, OR=6.871) demonstrated near statistical significance. Conclusions: The interrogated risk alleles did not show any significant association with insulin resistance in children in our cohort; however, the GCKR (rs780094) might be a viable candidate in larger cohorts. The lack of replication of the proposed association may point to differences in linkage disequilibrium or effect modifiers across studies. [ABSTRACT FROM AUTHOR]

Background: Genetic information is used very frequently in human identification in civil or judicial cases. Establishing the kinship relationship between a child and his biological father involves many ethical facts. We describe a DNA paternity case with two alleged fathers and an inconsistency between alleged father-2 and the child at D3S1358 locus. Methods: As biological samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). We collected the biological samples from each of person after each person gave the consent. In order to find the concentration of salivary DNA, the DNA samples were quantified by 7500 ABI Real-time PCR using the Quantifiler Human DNA kit (Applied Biosystems, USA). The next step was the amplification of the Salivary DNA samples by polymerase chain reaction (PCR). It was performed on a ProFlex PCR System (Applied Biosystems, USA) using the multiplex STR markers from the AmpFlSTR® Identifiler Plus Amplification Kit (Applied Biosystems, USA). After amplification, the PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (Applied Biosystems, USA). Results: AF-1 was excluded as biological father. The DNA profiles of AF-2 and the child had one mismatch at D3S1358 locus. Further, we amplified the Y-STR markers to confirm the mutation, obtaining a perfect match between the 2 persons. Conclusions: In paternity testing, where one or two inconsistencies are present between the child and the alleged father on autosomal STR markers, the use of haploid markers X-STR or Y-STRs is needed for the confirmation or exclusion of paternity. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: We aimed to assess the macular anatomy using spectral domain optical coherence tomography (SD‐OCT), in children born preterm who had laser‐treated retinopathy of prematurity (ROP), and to investigate the relationship between structural changes in macula and visual function. Methods: Thirty‐seven 3–8 years old children were included in the study in two groups: 20 children born preterm [(<34 weeks of gestation, birthweight (BW) <2000 g)] who had laser‐treated ROP in the Neonatology Department, Municipal Clinical Emergency Hospital of Timisoara, Romania; and 17 controls (children born at term, without eye disease, matched for age and gender). Spectral domain optical coherence tomography (SD‐OCT) imaging (Spectralis OCT) was performed at central fovea and 1 mm nasally. Results: In the ROP group (total 34 eyes), we included both eyes in 14 children, and on one eye in six other children. In the control group, both eyes for all 17 children were included. Central fovea thickness (CFT) was significantly higher in children born preterm and with laser‐treated ROP as compared to controls (275 ± 34.8 μm versus 224 ± 27.2 μm; p < 0.001). The laser‐treated eyes with ROP had mean best‐corrected visual acuity (BCVA) = 0.19 logMAR (20/31 Snellen); 35% had BCVA ≥0.3 logMAR (20/40 Snellen). In receiver operating characteristic curve (ROC) analysis, with BCVA as static variable (category 0 = BCVA ≤0.3 logMAR), the CFT cut‐off was 257 μm (sensitivity: 0.917; specificity: 0.661; area under the curve: 0.810, p = 0.001). Conclusion: Years after the laser intervention, central fovea was significantly thicker in ROP laser‐treated children born preterm when compared to controls. Central fovea thickness (CFT) correlated strongly and inversely with BW and gestational age (GA) at birth, while a CFT value above 257 μm was suggestive for suboptimal visual acuity. The proposed cut‐off value needs to be validated in future larger studies. [ABSTRACT FROM AUTHOR]