Surgical treatment of scoliosis in patients with osteogenesis imperfecta: a single institution case series.

BACKGROUND: Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by skeletal deformities, bone fragility, and spinal complications. Various studies' insights underscored the impact of scoliosis on pulmonary function, positive outcomes with spinal fusion, and improved functional abilities post-surgery. However, partial loss of correction remains inevitable. METHODS: This study examines six surgically treated OI patients with scoliosis. Surgical intervention using a posterior approach with pedicle screws and hooks aimed to correct spinal deformities. Preoperative, postoperative, and follow-up radiological assessments were conducted, revealing significant reductions in scoliotic angles post-surgery. RESULTS: Complications included infections and proximal junctional kyphosis requiring revision surgeries. Despite the challenges posed by poor bone quality and implant stability, no implant failures occurred in this series. Ponte osteotomies at the apex of deformity aided in corrective maneuvers. CONCLUSION: Surgical treatment of scoliosis in patients affected by OI is challenging and may be associated with perioperative and postoperative complications. Ponte osteotomy may improve the correction and reduce necessary force at the time of correction.

Prevalence of HBV and HCV infection in beta-thalassemia major patients of Tabriz city, Iran.

People with beta-thalassemia major are more likely to acquire blood-borne viral infections due to the need for frequent blood transfusions. Of these viruses, hepatitis B virus (HBV) and hepatitis C virus (HCV) are of particular importance. In this study, the prevalence of HBV, HCV and their risk factors in beta-thalassemia major patients in East Azerbaijan province was investigated. The study was descriptive cross-sectional, and 116 beta-thalassemia major patients who received blood in Shahid Ghazi hospital and Children's hospital in Tabriz city were studied. Data were collected by a questionnaire, and blood samples of patients in terms of serum markers HCV-Ab, HBsAg and HBs-Ab were analyzed by ELISA, and positive HCV-Ab results were confirmed by Real Time-PCR. Then using SPSS software version 22 and with the help of t-tests including Anova T-test, Man-Whitney U test, Independent sample t-test, chi-square and Fisher exact test, Statistical studies were performed. Of the 116 patients studied, no HBsAg positive cases were found. Four patients (3.4%) were positive for HCV-Ab, of which two patients (1.7%) became HCV-RNA positive after Real Time-PCR. There was a significant relationship between HCV-Ab positive and HCV-RNA positive (P = 0.000), blood transfusion intervals (P = 0.043), number of injected blood units (P = 0.001) and duration of blood transfusion (P = 0.006). The prevalence of HCV was lower in patients who started receiving blood after a blood donor screening program. HCV is less prevalent in thalassemia patients in East Azerbaijan province than in some studies in the country and various global statistics. After 1996, the prevalence of HCV in the thalassemia patient population has decreased significantly, and it seems that HCV infections since 1996 have been associated with various factors such as people's jobs, position, behaviour in society, etc.

Effect of Carum copticum nano-essence against Saprolegnia and Fusarium, and the Use of Multiplex PCR Assay for the Detection of These Organisms in Rainbow trout Oncorhynchus mykiss.

This study aimed to investigate the fungal species isolation and confirmation by the Multiplex PCR method in aquatic fish. Evaluation of the inhibitory effect of nano-essential oils of Carum copticum on isolated fungal species was also conducted in this study. The PCR results showed that 3 out of 5 samples were diagnosed with Fusarium solani, and two of them were positive for Saprolegnia. Moreover, in 0.1% of the females' nanoparticles, one peak appeared that showed a particle with an average diameter of 360 nm, and two nanoparticles showed a peak with a mean diameter of 242 nm. The results of minimum inhibitory concentrations (MIC) and minimum fungicidal concentrations (MFC) showed that 0.01% nano essential oil had 0.08 and 0.07 mg/ml MIC values against Fusarium solani and Saprolegnia, respectively. Gram/ml was on the growth of Fusarium solani species. The essential oils of female plants had an MIC of 0.07 in 0.1% essential oil and 0.03 mg/ml in 0.01% essential oil in Saprolegnia. Furthermore, in the case of 0.1% nano essential oil, the results showed the MIC values of 0.04 and 0.03 mg/ml against Fusarium solani and Saprolegnia, respectively. The MFC values of 0.1% nano essential oil were 0.1 and 0.07 mg/ml against Fusarium solani and Saprolegnia,respectively. It was not found on Fusarium and Saprolegnia. Overall, the results of this study using PCR for direct detection showed that 70% and 50% of the samples were Fusarium solani and Saprolegnia positive, respectively; therefore, the PCR was an efficient method for the detection of fungi. According to the results of nano-essential oil (0.1%) of females, this nano-essence had a strong inhibitory effect on Fusarium solani and Saprolegnia.

Evaluating the antimicrobial resistance patterns and molecular frequency of bla oxa-48 and bla GES-2 genes in Pseudomonas aeruginosa and Acinetobacter baumannii strains isolated from burn wound infection in Tehran, Iran.

The aim of this study is to evaluate the antimicrobial resistance patterns and molecular frequency of bla GES-2 and bla oxa-48 genes in Pseudomonas aeruginosa and Acinetobacter baumannii strains isolated from burn wound infection in Tehran, Iran. In this study, 50 isolates of A. baumannii and 48 isolates of P. aeruginosa were collected from the Burn Unit of Shahid Motahari Hospital at Tehran, Iran. Antibiotic susceptibility tests of all isolates were carried out using the disc diffusion method, and the production of extended-spectrum ß-lactamases (ESBLs) in isolates was surveyed by the double disc synergy method and based on CLSI (2019 AST M100) criteria. Finally, the frequency of bla GES-2 and bla oxa-48 genes was surveyed by PCR. Antibiotic susceptibility tests showed that 48/48 (100%) of P. aeruginosa isolates and 49/50 (98%) of A. baumannii isolates were resistant to ceftriaxone and cefotaxime, respectively. Ceftazidime exhibited the lowest (26/48; 54.1%) resistance rates against P. aeruginosa isolates. The production of ESBLs was seen in 8/48 (16.6%) and 3/50 (6%) of P. aeruginosa and A. baumannii isolates, respectively. On the basis of conventional PCR and sequencing, the frequencies of the bla GES-2 gene among P. aeruginosa and A. baumannii was 87.5% and 58%, respectively. Moreover, bla oxa-48 gene was detected in 70.83% and 92% of P. aeruginosa and A. baumannii isolates, respectively. Results suggest that antibiotic-resistant A. baumannii and P. aeruginosa strains isolated from burn patients are frequently found; therefore, it is absolutely necessary to implement continuous screening and follow-up programmes for detecting antimicrobial resistance.

The experimental and theoretical QM/MM study of interaction of chloridazon herbicide with ds-DNA.

We report a multispectroscopic, voltammetric and theoretical hybrid of QM/MM study of the interaction between double-stranded DNA containing both adenine-thymine and guanine-cytosine alternating sequences and chloridazon (CHL) herbicide. The electrochemical behavior of CHL was studied by cyclic voltammetry on HMDE, and the interaction of ds-DNA with CHL was investigated by both cathodic differential pulse voltammetry (CDPV) at a hanging mercury drop electrode (HMDE) and anodic differential pulse voltammetry (ADPV) at a glassy carbon electrode (GCE). The constant bonding of CHL-DNA complex that was obtained by UV/vis, CDPV and ADPV was 2.1×10(4), 5.1×10(4) and 2.6×10(4), respectively. The competition fluorescence studies revealed that the CHL quenches the fluorescence of DNA-ethidium bromide complex significantly and the apparent Stern-Volmer quenching constant has been estimated to be 1.71×10(4). Thermal denaturation study of DNA with CHL revealed the ΔTm of 8.0±0.2°C. Thermodynamic parameters, i.e., enthalpy (ΔH), entropy (ΔS°), and Gibbs free energy (ΔG) were 98.45 kJ mol(-1), 406.3 J mol(-1) and -22.627 kJ mol(-1), respectively. The ONIOM, based on the hybridization of QM/MM (DFT, 6.31++G(d,p)/UFF) methodology, was also performed using Gaussian 2003 package. The results revealed that the interaction is base sequence dependent, and the CHL has more interaction with ds-DNA via the GC base sequence. The results revealed that CHL may have an interaction with ds-DNA via the intercalation mode.

Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.

BACKGROUND: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. METHODS: Clinical exams and paraclinical test were performed for all patients of the case family, also proband, her husband, and her parents. Pedigree chart was drawn too. We extracted the genomic DNA from the leukocytes of seven members of the family. Haplotype analysis at the TYR locus was done and informative microsatellite markers were employed. In order to amplify the entire coding region of the TYR gene, for bidirectional direct sequencing mutation analysis, eight sets of primers were used. RESULTS: Our patients were diagnosed as affected with Oculocutaneous albinism type1a. Analysis of pedigree pattern showed an autosomal recessive inheritance. Analysis with different markers in chromosomes 5, 6, 9, 11 and 15 showed that cause of albinism in our case family was on chromosome 11 (D11S1887 marker was informative). CONCLUSIONS: The results offered a more developed method of diagnosis for OCA1 carrier identification and genetic counseling for OCA1 affected families as well; also submit a sample of mutation involved with oculocutaneous albinism in Iran. Genetic analysis is necessary for determining the type of albinism in an individual patient.

Experimental and computational approach to the rational monitoring of hydrogen-bonding interaction of 2-Imidazolidinethione with DNA and guanine.

The hydrogen-bonding interaction of 2-Imidazolidinethione with DNA and guanine has been investigated using UV/vis, circular dichroism, differential pulse voltammetry and ab initio chemical mechanic quantum procedures. The bonding constant of 2-Imidazolidinethione with DNA was measured by UV/vis spectroscopy and is estimated to be 1.4x10(3). In order to prove of hydrogen-bonding formation, the bonding constants of 2-Imidazolidinethione with guanine in Tris-HCl buffer and binary mixture of buffer-acetonitrile were measured. In addition, density functional theory calculations, using ab initio methodology at the 6-31+G(d,p) level and simulating the effect of solvents on interaction by mean of the Cosmo Polarizable Continuum Model (CPCM), were performed on the single and complex of 2-Imidazolidinethione and guanine molecules. However, we concluded that 2-Imidazolidinethione interacted with N(3) of guanine in minor groove of DNA.

Presence of stable coal radicals in autopsied coal miners' lungs and its possible correlation to coal workers' pneumoconiosis.

Stable coal radicals (SCRs) were detected by electron spin resonance (ESR) spectroscopy in the lung tissue of autopsied coal miners. The SCR concentrations were measured in the lung tissues from 98 coal miners with and without (a) coal workers' pneumoconiosis (CWP), (b) cancer, and (c) a history of cigarette smoking. Concentrations of SCRs were also determined in the lungs of nonminer controls. The SCR concentration was related to longer mining tenure, CWP disease severity, lung cancer, and cigarette smoking. The mean concentration of SCRs in the lung tissues of miners with 30 +/- 1.4 y of coal mining exposure was 5.3 +/- 1.3 x 10(17) spins/g versus controls who had a nondetectable level (less than 10(15) spins/g). An increase in disease severity was accompanied by a progressive increase in SCR concentration. A SCR concentration of 4.8 +/- 0.7 x 10(17) spins/g was found for simple CWP (with moderate coal macules) versus 7.8 +/- 4.6 spins/g lung tissue for complicated CWP (with progressive massive fibrosis). Significantly higher (i.e., 10 x 10(17] concentrations of SCR in the coal miners' lung tissues were associated with an exposure history in the anthracite regions of northeastern Pennsylvania. These results indicate a possible role for SCRs in the disease process. Furthermore, ESR appears to be an adequate methodology for the quantitation of coal dust retained in the lung and for distinguishing exposures to anthracite and/or bituminous coal.

Detection of reactive free radicals in fresh coal mine dust and their implication for pulmonary injury.

Freshly ground and aged anthracite and bituminous coal samples were investigated by electron spin resonance (ESR) spectroscopy to detect the presence, concentration and reactivity of free radicals. Freshly ground anthracite coal produced greater concentration of free radicals than the bituminous coal, and the radical reactivity was also greater for the anthracite. The reactivity of the newly produced free radicals in the anthracite dust correlated with the dust's toxicity. Furthermore, similar coal-based free radicals were detected in the lung tissue of autopsied coal miners, suggestive of persistent reactivity by the embedded coal dust leading to the progressive disease process. Results of the studies on the severity of coal workers' pneumoconiosis (CWP) and free radical concentration in lung tissue support this hypothesis.