Recent research on the treatment of spinal muscular atrophy. / è„Šé«“æ€§è‚ŒèŽç¼©ç—‡æ²»ç–—ç ”ç©¶è¿›å±•.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy. SMA, as an inherited disease, is the leading cause of death in infants and young children. Rapid progress has been made in the research field of SMA in recent years, and some related treatment drugs have been successfully approved for marketing. This article reviews the recent research advances in the treatment of SMA.

Conditioning Regimen of 5-Day Decitabine Administration for Allogeneic Stem Cell Transplantation in Patients with Myelodysplastic Syndrome and Myeloproliferative Neoplasms.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment for patients with myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). However, post-HSCT relapse remains a major cause of treatment failure. Here we assessed the efficacy of a new conditioning regimen comprising decitabine (Dec), busulfan (Bu), cyclophosphamide (Cy), fludarabine (Flu), and cytarabine (Ara-c) for allo-HSCT in patients with MDS and MDS/MPN. A total of 48 patients were enrolled, including 44 with MDS and 4 with chronic myelomonocytic leukemia (CMML). Patients received Dec 20 mg/m2/day on days -9 to -5, combined with a Bu/Cy/Flu/Ara-c-modified preparative regimen. At a median follow-up of 522 days (range, 15 to 1313 days), the overall survival (OS) was 86%, relapse incidence was 12%, and nonrelapse mortality was 12%. The incidence of severe acute (grade III-IV) graft-versus-host disease (GVHD) was 23% and that of chronic GVHD was 15%. At 2 years, OS was 74% and 86%, respectively for high-risk and very-high-risk patients with MDS. Survival was promising in patients with poor-risk gene mutations, such as TP53 and ASXL1 (88%), and in those with ≥3 gene mutations (79%). Results of immunomonitoring studies revealed that proper natural killer cells made essential contributions to these favorable clinical outcomes. Overall, this new regimen was associated with a low relapse rate, low incidence and severity of GVHD, and satisfactory survival in allo-HSCT recipients with MDS and MDS/MPN.

The Relationship Between Prognostic Nutritional Indexes and the Clinical Outcomes of Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease.

Purpose: Nutritional status is related to the clinical outcomes of patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). The aim of this study was to investigate the association between nutritional status, measured by the prognostic nutritional index (PNI), and adverse hospitalization outcomes in patients with AECOPD. Methods: Consecutive AECOPD patients admitted to the First Affiliated Hospital of Sun Yat-sen University between January 1, 2015 to October 31, 2021 were enrolled. We collected the clinical characteristics and laboratory data of patients. Multivariable logistic regression models were developed to assess the relationship between the baseline PNI and adverse hospitalization outcomes. A generalized additive model (GAM) was used to identify any non-linear relationship. In addition, we performed a subgroup analysis to tested the robustness of the results. Results: A total of 385 AECOPD patients were involved in this retrospective cohort study. Based on the tertiles of PNI, patients in the lower tertiles of PNI showed more worse outcome incidence (30 [23.6%] versus 17 [13.2%] versus 8 [6.2%]; p < 0.001). Multivariable logistic regression analysis revealed that the PNI were independently associated with adverse hospitalization outcomes after adjustment for confounding factors (Odds ratio [OR] = 0.94, 95% CI: 0.91 to 0.97, P < 0.0001). After adjusting for confounders, smooth curve fitting showed a saturation effect, suggesting that the relationship between the PNI and adverse hospitalization outcomes was nonlinear. Two-piecewise linear regression model suggested that the incidence of adverse hospitalization outcomes significantly decreased with PNI level up to the inflection point (PNI = 42), and PNI was not associated with adverse hospitalization outcome after that point. Conclusion: Decreased PNI levels at admission were determined to be associated with adverse hospitalization outcomes in patients with AECOPD. The results obtained in this study may potentially assist clinicians optimize risk evaluations and clinical management processes.

Methyl 4-(4-fluoro-phen-yl)-6-isopropyl-2-[N-methyl-N-(methylsulfonyl)amino]-pyrimidine-5-carboxyl-ate.

In the mol-ecule of the title compound, C(17)H(20)FN(3)O(4)S, the pyrimidine and benzene rings are oriented at a dihedral angle of 35.59 (3)°. Intra-molecular C-H⋯N and C-H⋯O hydrogen bonds result in the formation of one five- and two six-membered non-planar rings. One of the six-membered rings adopts a chair conformation, while the other six-membered ring and the five-membered ring exhibit envelope conformations with O and N atoms displaced by 0.837 (3) and 0.152 (3) Å, respectively from the planes of the other ring atoms. In the crystal structure, inter-molecular C-H⋯F hydrogen bonds link the mol-ecules into infinite chains.

Methyl 4-(4-fluoro-phen-yl)-6-isopropyl-2-(methylsulfonyl)pyrimidine-5-carbox-ylate.

The asymmetric unit of the title compound, C(16)H(17)FN(2)O(4)S, contains three independent mol-ecules, in which the pyrimidine and benzene rings are oriented at dihedral angles of 41.72 (3)°, 26.21 (3)° and 36.49 (3)°. Intra-molecular C-H⋯O hydrogen bonds result in the formation of two six- and one seven-membered non-planar rings, which have have twist conformations. In the crystal structure, inter-molecular C-H⋯O hydrogen bonds link the mol-ecules.

(2S,3R)-2-[(4-Ethyl-2,3-dioxopiperazin-1-yl)carbonyl-amino]-3-hydroxy-butyric acid monohydrate.

In the title compound, C(11)H(17)N(3)O(6)·H(2)O, an important building block of the medicine cefbuperazone sodium, the piperazine ring adopts a screw-boat conformation. Inter-molecular O-H⋯O and intra-molecular N-H⋯O hydrogen bonds are observed. The water mol-ecule participates as both donor and acceptor in this framework.