Genotypic and Phenotypic Composition of Sickle Cell Disease in the Arab Population - A Systematic Review.

Sickle cell disease (SCD) is a genetic disease influenced by ethnicity and regional differences in its clinical course. Recent advances in the management of SCD with newer therapies are being introduced to the Western population. However, many of these treatments are yet to be used in the Arabic SCD population. Understanding the genetic variations of SCD regionally is essential to anticipate the utilization of new treatments. This systematic review's main objective is to pool the available data on the genetic composition of SCD in the Arabic population. Data for 44,034 patients was extracted from 184 studies (11 case reports, 8 case series, 56 retrospectives, 107 prospective observational studies, and 2 clinical trials) using PubMed, Scopus, and Google Scholar. Male (49%) and female (51%) patients were equally reported wherever gender was available (N=13105). Various SCD genotypes were reported in a total of 14,257 patients, including Hb SS (77%) Hb Sß0 (9.9%), and Hb Sß+ (7.2%), while the rest of the genotypes, including HbSC, HbSD, HbSE, HbSO Arab, Hb S/α-Thal, Hb Sß0 + α-Thal, and HBS Oman were individually reported in <4% of the cases. Major SCD complications in the Arab population included pain crises (48.25%) followed by neurological complications (33.46%), hepatobiliary complications (25.53%), musculoskeletal complications (24.73%), and hemolytic anemia (23.57%). The treatments reported for SCD included hydroxyurea (20%), blood transfusion (14.32%), and Deferasirox (3.03%). We did not find the use of stem cell transplantation or newer treatments such as L-Glutamine, Voxelotor, Crizanlizumab, or gene therapy reported in any of the studies included in our review. This review highlights the genetic makeup of SCD in Arab countries and its common phenotypic manifestations and will help direct further research on SCD in this region, especially concerning genetic therapy. Systematic Review Registration: The protocol has been registered in the International Prospective Register of Systematic Reviews(PROSPERO):CRD42020218,666. https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=218666.

Demographics, clinical characteristics, and recurrence rate of patients with primary spontaneous pneumothorax at a tertiary care center in Qatar.

INTRODUCTION: Primary spontaneous pneumothorax (PSP) is a common medical emergency. Its treatment includes simple observation, needle thoracentesis, pleural catheter, video-assisted thoracoscopy (VATS), and open surgery. We aimed to establish the demographic, clinical characteristics, and 12-month recurrence rate of patients with PSP in four hospitals of the Hamad Medical Corporation, Qatar. MATERIALS AND METHODS: We conducted a retrospective analysis of patients >14 years old who were admitted with PSP from January 1, 2017 to December 31, 2019. The patients were followed up for 12 months for the recurrence of PSP. RESULTS: Out of 246 patients enrolled in this study, 223 (90.7%) were males and 23 (9.3%) were females. Their mean age was 29.1 ± 9.59 years and their mean body mass index (BMI) was 21.7 ± 4.22 kg/m2. Of these, 123 (51.2%) patients were smokers. Chest pain was the most common presenting complaint (82.5%). A total of 59 (23.98%) patients had a small pneumothorax, whereas 187 (76.01%) patients had a large pneumothorax. Among the patients with small pneumothorax, 16 (28.33%) were managed through observation alone, 2 (3.33%) required needle aspiration, 15 (25%) required pleural catheter insertion, and 26 (44.06%) underwent surgical intervention for management. Out of 187 patients with large pneumothorax, 16 (8.6%) were managed through observation, 7 (3.76%) required needle aspiration, 73 (38.1%) required pleural catheter insertion, and 91 (48.6%) underwent surgery. During the 12-month follow-up, 58 patients were lost to follow-up and 5 patients (5/188; 2.66%) presented with a recurrence of PSP. Out of 108 patients who underwent VATS, 2 (1.85%) had a recurrence of PSP. CONCLUSION: PSP is more common in males than in females, with a tendency for younger age onset. The recurrence rate of PSP in our study was 2.66%. Furthermore, the recurrence rate in our patients who underwent VATS was 1.85%. Prospective studies are warranted to compare the success rates of different treatment interventions.

Patients' experience and satisfaction using telemedicine for outpatient services in a Tertiary Cancer Center in Qatar during COVID-19: A cross-sectional study.

Background and Aim: The coronavirus-19 is an ongoing global pandemic resulting in millions of deaths worldwide. For a patient population at higher risk of infection, telemedicine is a promising means of providing safe and alternative care routes while minimizing their risk of exposure. This study gives insight into patients' experiences and satisfaction with telemedicine during this pandemic. Methods: We conducted a cross-sectional study on 297 patients (RR: 85%) at the National Center for Cancer Care and Research (NCCCR), Qatar. Data was collected through electronic medical records of the eligibe patient population, and phone calls were made whereby the physician read a standard introductory script followed by a survey questionnaire. We focused on patients' experience with telemedicine services amid the pandemic. This was done using a six-point Likert scoring system of seven questions that were scaled from 1 to 6. Results: More than 80% of patients somewhat to strongly agreed that telemedicine met their healthcare needs, improved their confidence in their healthcare system, and were generally satisfied with the quality of care provided. Nearly all patients (90%) understood their physicians' recommendations over the phone. In addition, more than half of the patients (89%) felt they could freely communicate their concerns. Patients also showed an inclination towards face-to-face consultations at 68%; however, 90% were willing to participate in future teleconsultations. Conclusion: Our study indicates an overall positive experience among patients towards the use of telemedicine. Telemedicine is a safe, futuristic approach toward patient care management and, thus, provides healthcare professionals a platform to implement further patient and physician education. Even though our data also showed that patients liked in-person visits to some degree, this needs to be looked into more in future studies.

Extramedullary haematopoiesis in patients with transfusion dependent ß-thalassaemia (TDT): a systematic review.

INTRODUCTION: Around 5% of the world's population is expected to have some degree and type of thalassaemia. Beta thalassaemia (BT) occurs due to a deficient production of the beta-globin chain of haemoglobin. Extramedullary haematopoiesis (EMH) is one of the complications of BT, mainly observed in minor/intermedia subtypes. EMH is the production of blood cells outside the marrow as a compensatory response to longstanding hypoxia. Due to chronic transfusions, it is not expected in patients with beta-thalassaemia major (BTM). However, there are increasingly reported cases of EMH in BTM. The incidence of EMH in BTM is thought to be <1%. We aim to pool the available data and provide cumulative evidence on the occurrence of EMH in BTM patients. METHODS: This is a systematic review of case reports, series, and retrospective studies that presented data on the occurrence of EMH in BTM patients. Data were recorded and analyzed in Microsoft Excel 2016 and SPSS 26. The protocol has been registered in PROSPERO: CRD42021242943. RESULTS: Data from 253 cases of EMH in BTM patients were extracted with a mean age of 35.3 years. Mean haemoglobin at presentation with EMH was 8.2 mg/dL. Lower limb weakness was the most common presenting feature (N = 23) (paraspinal EMH). Magnetic resonance imaging (MRI) was the most widely used diagnostic modality (226). Overall, blood transfusion was the commonest reported treatment (30), followed by radiotherapy (20), surgery (15), hydroxyurea (12), steroids (6), and exchange transfusion (2). An outcome was reported in 20% of patients, all recovered, except one who died as a result of nosocomial infection. CONCLUSION: EMH is rare in BTM and can occur in any organ system with varied clinical features. MRI can effectively diagnose EMH, and conservative management has similar results compared to invasive treatments. Larger studies, focussing on outcomes may enhance guidelines on preventive and therapeutic strategies for managing EMH in BTM.KEY MESSAGESExtramedullary haematopoiesis is a rare complication in beta thalassaemia. Although it is more common in non-transfusion dependent thalassaemia, increasingly reported cases suggest a higher prevalence of EMH in TDT than what is known before.There are no clear guidelines on the management of EMH in TDT, with reported patients showing similar outcomes with conservative invasive treatment modalities.More extensive and preferably prospectively designed studies are required focussing on the management of EMH and its outcomes in patients with TDT to formulate evidence-based guidelines.

Post COVID-19 fibrosis, an emerging complicationof SARS-CoV-2 infection.

SARS-COV-2 has created one of the most massive pandemics in modern history. There is a rapid accumulation of data on its epidemiology, clinical course, diagnosis, management, and complications. One of the sequelae of COVID-19 pneumonia and acute respiratory distress syndrome (ARDS) is pulmonary fibrosis. There is a dearth of accurate data on the prevalence of pulmonary fibrosis post-COVID-19. We report a patient who developed dyspnea secondary to pulmonary fibrosis after successful treatment of COVID-19 pneumonia.