Since the discovery of the dystrophin gene (DMD gene) thirty years ago, several therapeutic approaches have been investigated to treat Duchenne muscular dystrophy (DMD). This includes cell therapy, exon jumping, exonic knockout, and the CinDel method. In this article, we present the challenges of developping a treatment for DMD and the advances of these various approaches. We included the new CRISPR-Cas9 system, which permits not only major progress in the development of new treatments based on genome editing but also the production of new animal models.
Denise HM Bodden*, Yvonne Stikkelbroek, Daan Creemers, Sanne PA Rasing, Elien De Caluwe and Caroline Braet
Published on: 24th December, 2025
Objective: This study investigated the utility of the second version of the Children’s Depression Inventory (CDI-2) as a screening tool to identify children and adolescents aged 8-21 years suffering from depressive symptoms. Method: Data were collected by combining questionnaire data from multiple clinical and control subsamples in which the CDI-2 child and parent version were administered to clinically depressed children (n = 111), children with other psychiatric disorders (n = 74) and control children (n = 2246) as well as their parents (respectively n = 104, n = 112, n = 2130). Results: Results showed that the CDI-2 has good psychometric properties in terms of internal consistency, factor structure, parent-child agreement, convergent and divergent validity. However, the factor structure of the parent version was insufficient. The CDI-2 total score of the child version and parent version can differentiate between clinically depressed children, children with other psychiatric disorders, and control children. Further, reliable cut-off scores were established. There were also significant gender and age effects.Conclusion: The total score of the CDI-2 child and parent version can be used as a screening tool to detect clinically significant depressive symptoms in children and adolescents.
Background: Clinician managers can play a crucial role in healthcare organizations, including hospitals, by combining their clinical expertise with managerial responsibilities. They bring valuable insights and firsthand experience of patient care to managerial positions, contributing to improved patient outcomes and hospital performance. However, they face unique challenges that require careful attention and solutions. Aim: This review aims to critically discuss the role of clinicians as managers, the challenges that they face, and how they exercise their influence in hospital settings. Key findings: The role of clinicians as managers is critical for effective leadership and delivery of high-quality patient care. Described as a two-way window, clinician managers bridge the gap between medicine and management by combining clinical expertise with managerial skills in a hybrid leadership approach. Studies have shown a positive impact on hospital performance, including enhanced quality care, improved patient outcomes, and potentially better financial performance. In addition, they play a vital role in fostering interdisciplinary collaboration and boosting staff engagement. However, challenges such as identity conflicts, and limited formal training, are present, especially for first-time managers. Conclusion: Adapting to the dual role of clinician and manager demands a mindset shift and the development of new skills, necessitating strategic support. This includes leadership education, organizational support, mentoring, and collaborative models to empower clinician managers. Targeted training programs, formal mentoring, and peer support networks equip them with essential skills, while workload management, well-being initiatives, and a culture of balance foster success and growth.
Purpose: To evaluate changes in children with bilateral cleft lip and palate (BCLP) who premaxillary osteotomy and secondary alveolar bone grafting as compared to children with BCLP who are not indicated for surgery, and to determine variables that differentiate patients who do or do not require osteotomy.
Material and methods: Twenty-four children with BCLP were included in the study: 12 who underwent osteotomy (intervention group) and 12 who had no surgery (control group). Radiographic and model values of the intervention group were compared before (T1) and after (T2) premaxillary osteotomy, and measurements were compared with those from the control group at T1.
Results: Convexity, ANB (point A-nasion-point B), and maxillary depth was more diminished at T2 in children in the intervention group. Point A, anterior nasal spine, and pogonion were retroposed after surgery, and the anterior spine was higher. At T2, the upper incisors were proinclinated and intruded, and overbite was improved.
Models revealed increased intermolar intercanine width as well as intrusion of upper incisor after surgery. Premaxilla and upper molars were more extruded, had a higher total maxillary height and increased extrusion of upper incisor in children who underwent osteotomy.
Conclusion: After surgery, children who undergo surgery have a premaxilla that is more normalized and more level with the occlusal plane, as well as improved dental inclination. Variables that differentiate children who require osteotomy from those who do not include more extrusion and protrusion of the premaxilla, and a greater extrusion of the upper incisors.
Michelle Nanni*, Vivian Hu, Swagata Patnaik, Alejandro Folch Sandoval and Johanna Contreras
Published on: 24th January, 2024
The incidence of heart failure with preserved ejection fraction (HFpEF) continues to rise, and obesity continues to be a predominant comorbid condition affecting patients with HFpEF. Recent research sheds light on the important pathophysiologic role that obesity plays in the development of HFpEF, with many areas of opportunity existing for future developments in understanding the etiology and management of the disease. Crucial in these pathophysiologic developments are studies that clearly characterize the obesity phenotype in HFpEF and compare it to presentations of HFpEF in patients without obesity. This paper reviews the existing literature on the obesity phenotype within HFpEF and discusses some of the prevailing ideas behind the pathophysiologic interplay between the conditions, as well as the existing treatments demonstrating improved outcomes in HFpEF.
Papillary thyroid cancer (PTC) is the most common subtype of thyroid cancer and a highly curable malignancy [1]. However, despite its excellent prognosis, cervical lymph node metastases (CLNMs) are present in a significant percentage of patients with papillary thyroid cancer (PTC) (upto 50% - 60%) [2].
Diarrheal diseases continue to be the major cause of morbidity and mortality among children under 5 years. This study aimed to isolate, identify and determining the prevalence, antimicrobial susceptibility profile of Shigella sp associated with acute diarrhea among children in Kano, Northern Nigeria. A cross sectional study was conducted among children less than 5 years diagnosed with acute diarrhea and admitted to paediatric ward of Murtala Muhammad Specialist Hospital Kano. Stool samples from a total of 37 (20 male and 17 female) subjects were used to isolate and identified the pathogen. Antimicrobial susceptibility test was conducted using disc diffusion method. The result showed 12 out of 37 samples were positive for Shigella sp which accounted for 32.4%. Higher incidence of Shigella sp was found among subjects of age between 2 – 3 years. The isolates were 100% resistant to Ampicillin. High resistance was also observed in Amoxicillin (83.33%), Chloramphenicol (58.33%) and Tetracycline (25%). The isolates are 100% sensitive to ciprofloxacin, 66.7% to Levofloxacin and Gentamicin each and 58.33% to Erythromycin. Three (3) isolates were resistance to Ampicillin and Amoxicillin, 5 isolates were resistance to Ampicillin, Chloramphenicol and Amoxicillin while 2 isolates were resistance to Ampicillin, Chloramphenicol, Tetracycline and Amoxicillin. It is concluded that Shigella sp is one of the etiological agent of diarrhea in children. Ciprofloxacin, levofloxacin and Gentamicin are drugs of choice for treating diarrhea caused by Shigella sp.
Rectourethral fistula (RUF) is a divesting complication after prostate cancer treatment. The RUF incidence after radical prostatectomy is about 0.5% to 2%, [1,2]. Radiotherapy, criotherapy and high intensity focused ultrasound are other more severe causes [3,4].
Repair of RUF is a challenging surgical procedure. There are some possible approaches but transperineal is the most utilized.
In cases of complex fistulas interposition of muscle flaps between the rectum and urethra is highly recommended. Gracilis muscle transposition (GMT) is the preferred, due to excellent mobility and vascularization for perineal reconstruction [5,6]. Dissection of the gracilis muscle is done using one, 2 or 3 large incisions in the medial border of the thigh.
The aim of this report is present a new minimally invasive access to obtain a pediculate flap of gracilis muscle to interposition between bladder and rectum to treat RUF.
23-year-old man had a 2-year history of ketamine abuse and presented intermittent abdominal pain, urinary urgency and dysuria for one year. Two weeks ago, laboratory analysis showed within normal limits. This time, he visited our emergency department due to hematuria and bilateral flank pain. CT scan and MRI revealed bilateral hydronephrosis, hydroureter, irregular thickened wall of urinary bladder, and fusiform common bile duct with distal stenosis
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