Aminoacyl-tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids to cognate tRNA that are required for the first step of protein synthesis. Genetic mutations that cause dysfunction or absence of ARSs result in various neurodevelopmental disorders. The human phenylalanine-tRNA synthetase (PheRS) is a tetrameric protein made of two subunits coded by FARSA gene and two subunits coded by FARSB gene. We describe eight affected individuals from an extended family with a multisystemic recessive disease manifest as a significant growth restriction, brain calcifications, and interstitial lung disease. Genome-wide linkage analysis and whole exome sequencing identified homozygosity for a FARSB mutation (NM_005687.4:c.853G > A:p.Glu285Lys) that co-segregate with the disease and likely cause loss-of-function. This study further implicates FARSB mutations in a multisystem, recessive, neurodevelopmental phenotype that share clinical features with the previously known aminoacyl-tRNA synthetase-related diseases.

Sarcoidosis, a systemic granulomatous disease of unknown cause, has been described worldwide and in all populations with notable differences in clinical characteristics, organ involvement, disease severity, and prognosis among different ethnic and racial groups. While the exact prevalence of sarcoidosis in the Middle East is unknown, studies from various countries in the region have reported the clinical characteristics of affected patients, along with a few anecdotal reports. A search of the MEDLINE and Google Scholar databases was conducted for relevant English-language articles using the terms “sarcoidosis” and “Middle East” or “sarcoidosis” and “Arabs.” Subsequently, the names of individual countries were used as search terms, replacing “Middle East.” Overall, the clinical picture of patients with sarcoidosis in the Middle East is similar to that reported elsewhere; for example, the disease was more frequent among females and respiratory complaints were the predominant symptoms. Within the region, most patients from Oman were older and female, with arthralgia, hypercalcemia, and eye involvement being more common. Constitutional symptoms were frequent, especially among patients from Iran. Cough was more common among patients from Kuwait and Iran, while dyspnea was the predominant symptom for Saudi patients. Erythema nodosum was more common in the Turkish population. Clustering was seen in patients with Stage I and II of the disease in all countries except Oman. Apart from those in Iran, the prognosis of most patients from the Middle East was excellent.

In spite of guidelines on the use of antibiotics in Community acquired pneumonia (CAP), very often the antibiotics are prescribed for longer than necessary. Of the 37 in-patients with CAP over a 25-month period,12 had reasons for a longer antibiotic course. In the remaining 25, ten received antibiotics for ≤ 7 and 15 for more than 7 days. Respiratory rate (23.53± 4.32; p=0.039) and albumin levels (37.73±5.27; p=0.001) were higher in patients who received the longer course. Extent of opacities (p=0.690); single lobe 9 (60%). > 1 lobe unilateral 1 (100%) and bilateral 5 (55.6%) or the pattern; lobar 10(83.3%), segmental 1(20%) or interstitial 4 (50%); > 65 years 7 (53.8%); male 9 (60%), prior antibiotics 4 (57.1%), co-morbidities 11 (61.1%), Diabetes 8 (57.1%), aspiration risk 3 (42.9%) or higher CURB score 7(63.3%) did not influence the prescription. We find that physicians use their instinct rather than scientific backing in this decision. Often antibiotics are continued on discharge possibly due to a feeling of protection.

Objectives: Small-bore pigtail catheters are now being used more frequently for draining pleural effusions. This study aimed to measure the efficacy, safety, and tolerability of these devices in different clinical conditions. Methods: We retrospectively collected data from 141 patients with pleural effusions of various etiologies who underwent ultrasound-guided pigtail catheter insertion at Sultan Qaboos University Hospital, Muscat, Oman. Results: The majority 109 (77.3%) of patients had exudates. The mean age was 50.0±18.6 years in patients with exudates and 67.3±15.5 in patients with transudates (p < 0.001). There was no significant difference (p = 0.232) in the median drainage duration between exudates (6.0 days) and transudates (4.5 days). The incidence of pain requiring regular analgesics, pneumothorax, and blockage were 36.2% (n = 51), 2.8% (n = 4), and 0.7% (n = 1), respectively. The overall success rate of pleural effusion drainage was 90.1%. Among the 109 cases of exudative pleural effusion, 89.0% were successful compared to a 93.8% success rate among patients with transudative effusion (p = 0.737). Short-term success rates were high in all causes of effusions: lung cancer (100%), metastasis (90.0%), pleural infections (83.3%), cardiac failure (94.7%), renal disease (85.7%), and liver disease (100%). Conclusions: Ultrasound-guided pigtail catheter insertion is an effective, comfortable, and safe method of draining pleural fluid. It should be considered as the first intervention if drainage of a pleural effusion is clinically indicated.

Al-Kindi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.