Influence of Lumbar Lordosis Restoration on Clinical Outcome in Degenerative Lumbar Patients from the "Pre-Balance" Period: Ex Post Analysis of Spinal Parameters Restoration and Clinical Outcome in a Medium Follow-Up

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RNA analysis of consensus sequence splicing mutations: implications for thediagnosis of Wilson disease

Wilson disease (WD) is an autosomal recessive disorder caused by a defective function of the copper-transporting ATP7B protein. This results in progressive copper overload and consequent liver, brain, and kidney damage. Approximately 300 WD-causing mutations have been described to date. Missense mutations are largely prevalent, while splice-site mutations are rarer. Of these, only a minority are detected in splicing consensus sequences. Further, few splicing mutations have been studied at the RNA level. In this study we report the RNA molecular characterization of three consensus splice-site mutations identified by DNA analysis in WD patients. One of them, c.51 + 4 A --> T, resides in the consensus sequence of the donor splice site of intron 1; the second, c. 2121 + 3 A --> G, occurred in position + 3 of intron 7; and the c.2447 + 5 G --> A is localized in the consensus sequence of the donor splice site of intron 9. Analysis revealed predominantly abnormal splicing in the samples carrying mutations compared to the normal controls. These results strongly suggest that consensus sequence splice-site mutations result in disease by interfering with the production of the normal WD protein. Our data contribute to understanding the mutational spectrum that affect splicing and improve our capability in WD diagnosis

Maturation of SARS-CoV-2 Spike-specific memory B cells drives resilience to viral escape

SUMMARYMemory B cells (MBCs) generate rapid antibody responses upon secondary encounter with a pathogen. Here, we investigated the kinetics, avidity and cross-reactivity of serum antibodies and MBCs in 155 SARS-CoV-2 infected and vaccinated individuals over a 16-month timeframe. SARS-CoV-2-specific MBCs and serum antibodies reached steady-state titers with comparable kinetics in infected and vaccinated individuals. Whereas MBCs of infected individuals targeted both pre- and postfusion Spike (S), most vaccine-elicited MBCs were specific for prefusion S, consistent with the use of prefusion-stabilized S in mRNA vaccines. Furthermore, a large fraction of MBCs recognizing postfusion S cross-reacted with human betacoronaviruses. The avidity of MBC-derived and serum antibodies increased over time resulting in enhanced resilience to viral escape by SARS-CoV-2 variants, including Omicron BA.1 and BA.2 sub-lineages, albeit only partially for BA.4 and BA.5 sublineages. Overall, the maturation of high-affinity and broadly-reactive MBCs provides the basis for effective recall responses to future SARS-CoV-2 variants

Anterior cervical corpectomy for cervical spondylotic myelopathy: Reconstruction with expandable cylindrical cage versus iliac crest autograft. A retrospective study

Objectives To compare retrospectively the clinical and radiographic outcomes between cervical reconstruction with expandable cylindrical cage (ECC) and iliac crest autograft after one- or two-level anterior cervical corpectomy for spondylotic myelopathy. Patients and methods Forty-two patients underwent cervical reconstruction with either iliac crest autograft and plating (20 patients) or ECC and plating (22 patients). The average clinical and radiological follow-up period was 77.54 ± 44.28 months (range 14-155 months). The authors compared clinical parameters (Nurick Myelopathy Grade, modified Japanese Orthopedic Association (mJOA) scores), perioperative parameters (hospital stays, complications) and radiological parameters (Cobb's angles of the fused segments and C2-C7 segments, cervical subsidence, fusion rate). Fusion was assessed on flexion-extension X-ray films. Results No significant differences between the two groups were found in demographics, neurological presentation, preoperative sagittal alignment, clinical improvement and length of hospitalization. Patients of the autograft group experienced more postoperative complications, although the difference between the two treatment groups was not statistically significant (15 versus 4.5%, p = 0.232). The fusion rate was 100% in both groups. The average lordotic increase of the segmental angle was significantly greater in the ECC group (p < 0.05). Other radiological parameters were not significantly different in the two groups. Conclusion Cervical reconstruction either with iliac crest autograft and plating or ECC and plating provides good clinical results and similar fusion rates after one- or two-level corpectomy for spondylotic myelopathy. However, the use of ECC obviates donor site complications and provides a more significant increase of lordosis in segmental angle

Influence of Lumbar Lordosis Restoration on Clinical Outcome in Degenerative Lumbar Patients from the “Pre-Balance” Period: Ex Post Analysis of Spinal Parameters Restoration and Clinical Outcome in a Medium Follow-Up

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Group Contributions To the Thermodynamic Properties of Non-ionic Organic Solutes In Dilute Aqueous-solution

The thermodynamic properties ΔG°h, ΔH°h, and ΔCp°h associated with the transfer of non-ionic organic compounds from gas to dilute aqueous solution and the limiting partial molar properties Cp°2 and V2° of these compounds in water are described through a simple scheme of group contributions. A distinction is made between groups made only of carbon and hydrogen, and functional groups i.e. groups containing at least one atom different from carbon and hydrogen. Each group is assigned a contribution, for each property, through a least squares procedure which utilizes only molecules containing at most one functional group. Finally, for compounds containing more than one functional group, correction parameters are evaluated as the differences between the experimental values and those calculated by means of the group contributions. The different behavior of hydrophilic compared with hydrophobic groups is discussed for the various properties. A rationale for the correction parameters, i.e. for the effects of the interactions among hydrophilic groups on the thermodynamic properties, is attempted

Age-Dependency of Cardiometabolic Risk and Protective Factors in Females Living in a Countryside Area of Switzerland.

We investigated the effect of age on cardiometabolic risk and protective factors in females living in a countryside area of Switzerland. For this cross-sectional analysis, data from 268 female adults, who live in two neighboring countryside villages in Italian-speaking Switzerland were retained. 89 study participants were premenopausal, 82 climacteric and 97 postmenopausal. Television viewing time, short duration of sleep, overweight, blood pressure, levels of atherogenic lipids and glycated hemoglobin significantly increased with age. Walking time also significantly increased with age. Tobacco smoking was more common among premenopausal women. It is concluded that in these countryside villages climacteric and postmenopausal women generally have an unfavorable cardiometabolic risk profile. On the other side, low physical activity and smoking are, compared to premenopausal and climacteric women, less prevalent in postmenopausal women