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Objective: We present the case of a 26-year-old male with severe spinal tuberculosis of the thoracolumbar region. The patient suffered from worsening back pain over five years, initially responding to over-the-counter analgesics. Despite being proposed surgery in 2019, the patient refused the intervention and subsequently experienced significant disease progression. Methods: Upon re-presentation in 2022, mild involvement of the T12-L1 vertebrae was recorded by imaging, leading to a percutaneous needle biopsy which confirmed tuberculosis. Despite undergoing anti-tuberculous therapy for one year, the follow-up in 2024 revealed extensive infection from T10 to S1, with large psoas abscesses and a pseudo-tumoral mass of the right thigh. The patient was ultimately submitted to a two-stage surgical intervention: anterior resection and reconstruction of T11-L1 with an expandable cage, followed by posterior stabilization from T8-S1. Results: Postoperative recovery was uneventful, with significant pain relief and no neurological deficits. The patient was discharged on a continued anti-tuberculous regimen and remains under close surveillance. Conclusions: This paper presents details on the challenges of diagnosis and management of severe spinal tuberculosis, with emphasis on the importance of timely intervention and multidisciplinary care. [ABSTRACT FROM AUTHOR]

DNA analysis plays a crucial role in forensic investigations, helping in criminal cases, missing persons inquiries, and archaeological research. This study focuses on the DNA concentration in different skeletal elements to improve human identification efforts. Ten cases of unidentified skeletal remains brought to the Institute of Forensic Medicine in Timisoara, Romania, underwent DNA analysis between 2019 and 2023. The results showed that teeth are the best source for DNA extraction as they contain the highest concentration of genetic material, at 3.68 ng/µL, compared to the petrous temporal bone (0.936 ng/µL) and femur bone (0.633 ng/µL). These findings highlight the significance of teeth in forensic contexts due to their abundant genetic material. Combining anthropological examination with DNA analysis enhances the understanding and precision of identifying human skeletal remains, thus advancing forensic science. Selecting specific skeletal elements, such as the cochlea or teeth, emerges as crucial for reliable genetic analyses, emphasizing the importance of careful consideration in forensic identification procedures. Our study concludes that automated DNA extraction protocols without liquid nitrogen represent a significant advancement in DNA extraction technology, providing a faster, more efficient, and less labor-intensive method for extracting high-quality DNA from damaged bone and tooth samples. [ABSTRACT FROM AUTHOR]

Background: Allogeneic hematopoietic stem cell transplantation (HSCT) is the treatment of choice in patients with Fanconi anemia (FA). The aim of our study is to evaluate the impact and benefits of allogenic matched donor HSCT in a case of a 12 year-old girl with FA, who displayed good clinical evolution following 2 months post-transplantation. Methods: In the pre-transplant phase, reference blood samples from the donor and recipient were collected on EDTA. The DNA from blood samples was extracted using an automated Maxwell® 48 RSC instrument (Promega, USA) with the Maxwell® RSC Whole blood DNA kit (Promega, USA). For DNA quantification, the PowerQuant System kit (Promega, USA) was used with the ABI 7500 Real-time PCR system (Applied Biosystems, USA). The amplification of the short tandem repeat markers was performed using the 24plex Investigator QS kit (Qiagen, Germany) on a ProFlex PCR System. Furthermore, the PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). Results: Thirty days post transplantation, a complete chimerism (CC) was achieved with a full replacement by donor derived hematopoietic cells. Sixty days post transplantation, the CC status was maintained with improvement of hematological findings. Conclusions: In FA, chimerism monitoring after HSCT provides useful information regarding engraftment or possibility of post-transplantation complications such as graft versus host disease. [ABSTRACT FROM AUTHOR]

With the onset of the COVID-19 pandemic, enormous efforts have been made to understand the genus SARS-CoV-2. Due to the high rate of global transmission, mutations in the viral genome were inevitable. A full understanding of the viral genome and its possible changes represents one of the crucial aspects of pandemic management. Structural protein S plays an important role in the pathogenicity of SARS-CoV-2, mutations occurring at this level leading to viral forms with increased affinity for ACE2 receptors, higher transmissibility and infectivity, resistance to neutralizing antibodies and immune escape, increasing the risk of infection and disease severity. Thus, five variants of concern are currently being discussed, Alpha, Beta, Gamma, Delta and Omicron. In the present review, a comprehensive summary of the following critical aspects regarding SARS-CoV-2 has been made: (i) the genomic characteristics of SARS-CoV-2; (ii) the pathological mechanism of transmission, penetration into the cell and action on specific receptors; (iii) mutations in the SARS-CoV-2 genome; and (iv) possible implications of mutations in diagnosis, treatment, and vaccination. [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]

The physiopathology of SARS-CoV-2 infection, during pregnancy and in early childhood, is poorly understood. Unfavorable maternal outcomes, the risk of vertical/postpartum transmission, and severe, multisystem involvement in infants and children highlight the importance of developing a cohesive treatment and nuanced prophylaxis strategy. In this study, we evaluate autopsy reports, pathological findings, and SARS-CoV-2 genome expression in three distinct clinical scenarios: maternal death due to severe COVID-19 with in utero fetal demise (27 weeks); mother with moderate COVID-19 and in utero fetal demise (29 weeks); and 2-month-old infant death with confirmed COVID-19 caregivers. We report the presence of the SARS-CoV-2 genome in amniotic fluid and placental tissue in the context of in utero transmission of SARS-CoV-2, but also in postmortem infant pulmonary tissue samples in a case of late postpartum SARS-CoV-2 transmission with asymptomatic, rapidly progressive disease, resulting in infant death. Key pathological findings offer a descriptive portrayal of maternal, in utero, and infantile COVID-19 pathogenesis. Further investigations are necessary to fully comprehend the clinical implications of SARS-CoV-2 infection during pregnancy, a prerequisite for adequate therapeutic management and harm reduction. [ABSTRACT FROM AUTHOR]

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]

There are complex interconnections between the nervous system and the skin highlighted by the impact of stress and neuroendocrine factors on various dermatological conditions. We investigated the influence of stress on skin neurogenic inflammation induced by capsaicin. A total of 31 healthy subjects were randomized into two groups: subjects in the stress group underwent a stress-inducing protocol and those in the control group were exposed to indifferent conditions. Subsequently, topical capsaicin cream was administered on the non-dominant anterior forearm of each subject from the two groups. The assessment of the local inflammatory reaction induced by capsaicin was performed by thermography at 25 and 40 min post-application. In both groups the inflammatory reaction induced by capsaicin was evidenced at 25 min and was maintained at 40 min post-application. However, at 40 min post-application the hyperthermal area was larger in subjects from the stress group, suggesting that stress exposure is associated with an amplification of the mechanisms involved in capsaicin-induced skin neurogenic inflammation. [ABSTRACT FROM AUTHOR]

Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition in red blood cells (RBCs) and genetic variations involved in PUFA metabolism has not been investigated in children with obesity. This study evaluated the association between several genetic variations and PUFA levels in RBCs in children with obesity. One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine N-methyltransferase (PEMT) rs1109859 and methylenetetrahydrofolate reductase gene (MTHFR) rs4846052 genotypes were associated with PUFA levels in RBCs. PUFA intake did not influence the RBC eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) levels. Higher RBC DHA and EPA levels were observed for PEMT rs1109859 GG and GA genotypes versus the AA genotype. Higher levels of RBC DHA, EPA, arachidonic acid (ARA), and linoleic acid (LA) and were observed for MTHFR rs4846052 TT genotype versus TC and CC genotypes. Genetic variations in PEMT rs1109859 and MTHFR rs4846052 were associated with different PUFA levels in RBC membranes and are estimators for PUFA species in RBCs. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children. [ABSTRACT FROM AUTHOR]

Few high-performance liquid chromatography–tandem mass spectrometry (LC-MS/MS) methods have been developed for the full quantitation of fatty acids from human plasma without derivatization. Therefore, we propose a method that requires fewer sample preparation steps, which can be used for the quantitation of several polyunsaturated fatty acids in human plasma. The method offers rapid, accurate, sensitive, and simultaneous quantification of omega 3 (α-linolenic, eicosapentaenoic, and docosahexaenoic acids) and omega 6 fatty acids (arachidonic and linoleic acids) using high-performance LC-MS/MS. The selected fatty acids were analysed in lipid extracts from both free and total forms. Chromatographic separation was achieved using a reversed phase C18 column with isocratic flow using ammonium acetate for improving negative electrospray ionization (ESI) response. Mass detection was performed in multiple reaction monitoring (MRM) mode, and deuterated internal standards were used for each target compound. The limits of quantification were situated in the low nanomolar range, excepting linoleic acid, for which the limit was in the high nanomolar range. The method was validated according to the U.S. Department of Health and Human Services guidelines, and offers a fast, sensitive, and reliable quantification of selected omega 3 and 6 fatty acids in human plasma. [ABSTRACT FROM AUTHOR]

Total knee arthroplasty (TKA) implant survival time is determined by various patient and implant-related factors and varies significantly in recent worldwide reports. In our study, we have included 247 TKA revisions in 203 patients performed in our hospital over the last 20 years. Multiple etiologies of revisions were identified and classified into 10 categories. Time to failure was analyzed with regard to etiology, patient demographics, and other relevant data. The overall average time to revision was 44.08 months (95% confidence interval (CI) between 33.34 and 49.82 months). Age at primary implant was negatively correlated with time to revision (hazard ratio (HR) = 1.0521 and 95% CI of HR = 1.0359 to 1.0685) and female patients showed a 1.59 times higher risk of implant failure than males. Periprosthetic joint infection was the cause of 46.56% (n=115) of revisions (out of which 12.55% (n=31) were early infections, diagnosed within the first three months), while aseptic loosening was found in 31.98% (n=79) of cases. Infection correlated with a shorter time to revision compared to aseptic loosening (p<0.05). These findings emphasize the need to intensify efforts to deliver the best patient care, select the best antibiotic regimen, and improve surgical techniques to decrease the incidence of infectious complications., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Dragosloveanu et al.)

Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its rarity, medical management and preventive screening measures are insufficiently understood. Here, we present nine individuals (one new and eight previously presented) with biallelic variants in BRCA1 gene, to delineate clinical features in comparison with other chromosome instability syndromes and understand the patients' health risk. Features seen in these 9 individuals (7 females/2 males) include prenatal and postnatal growth failure (9/9), microcephaly (9/9), hypo/hyperpigmented lesions (9/9), facial dysmorphism (9/9), mild developmental delay (8/9) and early-onset solid tumours (5/9). None presented bone marrow failure or immunodeficiency. Individuals with biallelic variants in BRCA1 also showed chromosomal instability by mitomycin and diepoxybutane test. The phenotype caused by biallelic BRCA1 variants is best framed between Fanconi anaemia and Nijmegen syndrome, yet distinct due to lack of bone marrow failure and immunodeficiency. We hypothesise that disease class should be reframed and medical management in people with biallelic variants in BRCA1 should emphasise on detection of solid tumour development and avoiding exposure to ionising radiation., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)