Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear. Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation. Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (r = 0.539, p = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (r = 0.361) or the time of first nusinersen dose (r = 0.39) was not significant (p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores. Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

Unseen Threefold Mortality After the First Ten Days in Hemodialysis Patients Following Joint Arthroplasty: A Nationwide Retrospective Cohort Study of 1,287 Arthroplasty Patients on Hemodialysis.

BACKGROUND: The study addresses the growing number of hemodialysis (HD) patients undergoing joint arthroplasty, who are at higher risk of complications and mortality. Previous research has often overlooked deaths after discharge. This study aimed to examine early outcomes in a large nationwide cohort of patients who underwent arthroplasty for elective and fracture-related reasons. METHODS: Between 2016 and 2022, a study was conducted using the e-Nabiz database of the Türkiye Ministry of Health, focusing on patients aged 18 years and above who underwent elective or fracture-related arthroplasty. This study included 1,287 patients reliant on dialysis who underwent total hip arthroplasty, total knee arthroplasty, or hemiarthroplasty (HA), with 7.7% of them receiving dialysis for the first time. Propensity score matching was used to create an equally sized group of non-dialysis-dependent patients, ensuring demographic balance in terms of age, sex, a comorbidity index, and surgery type. The primary objective was to compare mortality rates 10, 30, and 90 days after arthroplasty. RESULTS: The first-time dialysis patients who underwent HA had significantly higher 30- and 90-day mortality rates compared to the chronic dialysis group (P = .040 and P < .001, respectively). Also, the HD patients consistently exhibited higher 90-day mortality rates across all surgery types. With total knee arthroplasty, HD patients had a mortality rate of 8.7%, in stark contrast to 0% among non-HD patients (P < .001). Similarly, with total hip arthroplasty, HD patients had a 12% mortality rate, while non-HD patients had a markedly lower rate of 2.7% (P = .008). In the case of HA, HD patients had a significantly elevated 90-day mortality rate of 31.9%, in contrast to 17.1% among non-HD patients (P < .001). CONCLUSIONS: Joint arthroplasty has higher rates of mortality and complications among HD patients. Surgical decisions must be based on patients' overall health, necessitating collaboration among specialists. These patients should be closely monitored.

Prevalence of the hematopoietic rare genetic diseases in Türkiye: A retrospective study.

BACKGROUND: Rare genetic diseases are an important global public health problem. At present there are defined approximately 8120 genetic diseases in 15,465 epidemiological datasets and 70% of them start in childhood. Hematopoiesis is the production of all cellular components of blood and continues throughout life. OBJECTIVE: This study aims to present prevalence of hematopoietic rare genetic diseases recorden in Turkey. METHODS: The population of study consist of 84.680.273 people who received healthcare from the Turkish National Health Service (49.9% female, 50.1% male). TNHS collects and records electronic data which relates with illness or health information of Turkish population since 2018. All healthcare facilities utilize the Personal Electronic Health Record System (PHR), aligning with standards outlined in the Turkish National Health Data Dictionary and the Health Coding Reference Server (HCRS) established by the Ministry of Health in 2007. The data dictionary comprises essential packages such as patient application and examination records. RESULTS: Diagnosed female population (53.04%) were higher than male (46.96%). Data shows that most of the people with rare genetic diseases were diagnosed in Marmara Region. The overall prevalence of Hematopoietic Rare Genetic Diseases higher in the years of 2021 and 2022. CONCLUSION: The prevalence increased gradually from 2018 to 2022. The consanguinity marriage seems to be the main problem which resulted higher rate of rare genetic diseases in Türkiye.

Comparison of computing capability and information system abilities of state hospitals owned by Ministry of Labor and Social Security and Ministry of Health.

The main purpose of this study is to give an idea to the readers about how big and important the computing and information problems that hospital managers as well as policy makers will face with after collecting the Ministry of Labor and Social Security (MoLSS) and Ministry of Health (MoH) hospitals under single structure in Turkey by comparing the current level of computing capability of hospitals owned by two ministries. The data used in this study were obtained from 729 hospitals that belong to both ministries by using a data collection tool. The results indicate that there have been considerable differences among the hospitals owned by the two ministries in terms of human resources and information systems. The hospital managers and decision makers making their decisions based on the data produced by current hospital information system (HIS) would more likely face very important difficulties after merging MoH and MoLSS hospitals in Turkey. It is also possible to claim that the level and adequacy of computing abilities and devices do not allow the managers of public hospitals to use computer technology effectively in their information management practices. Lack of technical information, undeveloped information culture, inappropriate management styles, and being inexperienced are the main reasons of why HIS does not run properly and effectively in Turkish hospitals.