Search

Spinal muscular atrophy (SMA) is an inherited progressive neuromuscular disorder characterized by generalized hypotonia, respiratory failure and early death. The introduction of gene replacement therapy (GRT) modified the natural history of the disease. However, more data is needed to understand the long-term effect of GRT on measurable respiratory outcomes. We report the respiratory outcomes in our cohort of patients with SMA post-GRT in 2-year period.A retrospective chart-review of genetically confirmed children with SMA who received GRT between 2019 and 2021 in Qatar. The evaluated respiratory outcomes were chronic respiratory support, respiratory hospitalizations, escalation of respiratory support and polysomnography results before and after GRT. Nonrespiratory outcomes; nutritional status, swallowing, and motor functions; were also assessed.A total of 11 patients (9 patients with SMA-1 and 2 patients with SMA-2) received GRT at a median age of 12 months and 22 months in patients with SMA-1 and SMA-2, respectively. All patients were successfully weaned off Noninvasive ventilation (NIV) except one patient who remained on mechanical ventilation through tracheostomy tube. The annualized hospitalization rate dropped by half after GRT. The average length of stay (LOS) in intensive care unit (ICU) decreased by 17.32 days/patient/year after GRT. Duration of required escalation of respiratory support during acute hospitalizations has dropped by 18.56 days/patient/year post-GRT.We report favorable respiratory outcomes of GRT in our cohort. GRT resulted in discontinuation of chronic respiratory support in majority of ventilated patients. GRT also resulted in decreased respiratory hospitalization rate, hospital-LOS, ICU-LOS, and need for escalation of ventilatory support.

Background: Peritrochanteric fractures are frequent of the proximal femur and represents about half of all proximal femur fractures. They are associated with disability, mainly in elder patients. Its management aiming to achieve immediate ambulation and to regain the pre-operative ambulation. Aim and objectives; to evaluate and assess the functional and radiological outcomes of primary prosthetic replacement in old age cases of unstable per-trochanteric femur fractures, Subjects and methods: The current work was an interrupted time series clinical trial (quasi experimental), included 15 patients suffering from unstable per-trochanteric fracture presented to us within a week of sustaining injury. They were clinically assessed and checked for fitness for surgery. Then and after surgery, they were followed by for functional outcome by Harris Hip Scale and any complications were recorded. Results: Patients age ranged between 61 and 94 years. Females were more affected than males (80.0% vs 20.0%). Associated comorbidities were hypertension, diabetes and both conditions among 33.3%, 6.7% and 33.3%, successively. Falling was the commonest mode of injury (60.0%), and the left side was more affected than the right (60.0% vs 40.0%). Associated injuries were 1(6.7%) fracture surgical neck hummers, 1(6.7%) contralateral both bone leg fracture, 1(6.7%) had fracture mid shaft ulna. Regarding outcome, all cases were free from postoperative complications. However, blood loss was reported among 11(73.3%). Twelve (80%) patients had an excellent, 2 (13.3%) had good and 1(6.7%) had fair functional outcome. There was significant association between functional outcome and patients, gender, associated comorbid medical conditions, mode of trauma, side of trauma, or blood loss. Conclusion: Primary prosthetic replacement is a valid surgical option in management of unstable trochanteric fractures in elderly. The main advantages are the safety, effectiveness and early full weight bearing.

Background: Posterior tibial plateau fracture (PTPF) is a relatively uncommon injury. This kind of fracture appears confusing on initial radiographs because of the small displacement, so it is a special injury pattern. Aim and objectives: the aim of the study was to evaluate the safety and efficacy via a posterior approach in the posterior shearing tibial plateau fracture. Subjects and methods: The study was prospective study carried out in the Department of Orthopaedic surgery, Al-azhar university Hospital in Damietta. This study had been carried out on 24 patients. Results: there is statistically significant difference between immediate post-operative reduction and other post-operative reduction after 6 weeks, 3 months and 5 months. Conclusion: Posterior tibial plateau fracture is relatively rare in tibial plateau fractures. Our study highlights the importance of posterior tibial plateau fracture which was deemed unimportant in the past. Our results highlight the importance of fixation of PTPF and achieving an early and satisfactory functional outcome.

Purpose Patellofemoral (PF) joint osteoarthritis (OA) is a major cause of anterior knee pain. Combined PF and medial tibiofemoral (TF) OA is common in older adults. We evaluated the effect of arthroscopic patellar denervation (PD) in patients with combined TF and PFOA after malalignment correction. Methods Forty-five patients [females/males, 27/18; age, 30–59 years (45.5 ± 8.50); mean body mass index, 25.15 ± 3.04 kg/m2] were treated in our department from March 2017 to March 2019. The patients were randomised into 2 groups: group A included 22 patients who underwent open-wedge high tibial osteotomy (OWHTO) and arthroscopic PD and group B included 23 patients who underwent OWHTO without denervation. The effect of denervation was statistically and clinically evaluated using the Knee injury and Osteoarthritis Outcome Score (KOOS) and Kujala (anterior knee pain score) score. Results After 24 months, 40 patients were available for the final follow-up. The final values of KOOS and the Kujala score were significantly different between the groups (p p p p p Conclusion Adding arthroscopic PD to OWHTO relieves anterior knee pain in patients with combined TF and PFOA and improves knee joint function and quality of life. Level of evidence Level I prospective randomised control clinical trial.

Background: A leiomyoma is a benign tumor of smooth-muscle cells that can arise from the genitourinary or gastrointestinal systems. Leiomyomas arising from the urethra or paraurethral area...

Objective: This study aimed to investigate the adverse effects of linezolid (LZD) on biochemical and hematological parameters and some organsincluding bone marrow, brain, and kidneys and to investigate the possibility of methanolic extract of Phoenix dactylifera (MEPD) to counteract theadverse effects of LZD.Methods: Forty-eight adult male albino rats were allocated into four equal groups (each of 12 animals). The first group received Tween 80 orally. Thesecond group received was given 0.5 ml of LZD suspension 4% in Tween 80 (100 mg/kg body weight) orally. The third group received the same doseof LZD suspension followed by 1 ml of MEPD orally. The rats in the last group were given 1 ml of MEPD (1000 mg/kg body weight) orally. Rats weresacrificed and blood samples were collected for hematological and biochemical study. Femur bones, brain, and kidneys were dissected and kept in ajar containing 10% formalin to perform the histopathological investigation.Results: The dose of LZD administered for 14 successive days induced a mild-to-moderate hematological abnormalities including decrease inhemoglobin content (7.88±0.18 g/L) on day-1 post-treatment. Significant increase in serum urea (59.75±0.85) and serum creatinine was observed(1.89±0.04). On day-14 post-treatment, LZD induced mild-to-moderate cellular abnormalities in bone marrow, brain, and kidneys. The concurrentoral administration of MEPD and LZD for the same period corrected the hematological, biochemical, and histopathological alterations induced by LZD. Conclusion: It was concluded that MEPD clearly ameliorated these damaging effects induced by LZD.

Background: Colorectal cancer is increasing worldwide, especially in young populations. Objective: In this minireview, we discussed the different methods used in the screening of colorectal cancer in the general population. Conclusions: screening of colorectal cancer by different methods is an effective way to diagnose colorectal cancer in the early stages. Keywords: screening, colorectal cancer, minireview

Neonatal meningitis is responsible for thousands of neonatal deaths annually all over the world. Our study was conducted to determine the epidemiology, management and best preventive measures for neonatal meningitis in Qatar.A retrospective study reviewed the records of bacterial meningitis patients under the age of one month. The study was carried out at Hamad Medical Hospital, the only hospital that provides health care at Qatar and the study period was between January 1998 to December 2000.Thirteen patients were included. Sixty percent of patients had early onset meningitis. Causative organisms were group B Streptococcus pneumoniae, Klebsiella pneumonia, Pseudomonas species, Neisseria meningitidis, Staphylococcus epidermidis and Flavibacterium meningococcus septicum. A bacterial resistance to the usual combination of ampicillin and gentamicin were noticed (as initial treatment before culture sensitivity results), which affected negatively on some patients. Complications of cerebral palsy, mental retardation and epilepsy occurred in 3 patients (23%). None of the patients died during the study period.Emphasis is placed on the importance of correct early diagnosis and appropriate antibiotic therapy. It is suggested that the identification and appropriate treatment of any maternal bacterial infection is an important measure in preventing neonatal sepsis and meningitis.