Use of Prophylactic Inferior Vena Cava Filters in Trauma

Venous thromboembolisms, specifically pulmonary embolisms (PEs), represent a significant burden on healthcare systems worldwide, particularly within the setting of trauma. According to the literature, PEs are the most common cause of in-hospital death; however, this condition can be prevented with a variety of prophylactic and therapeutic measures. This article aimed to examine current evidence on the use, indications for prophylaxis, outcomes and complications of prophylactic inferior vena cava filters in trauma patients

Submyomatous Cornual Pregnancy : Managed surgically after failed medical management

Cornual pregnancy constitutes an emergency while its diagnosis and management remain a challenge. Anatomical abnormalities in the uterus, such as fibroids in the cornual region, make the management even more difficult. A nulliparous patient presented with an ectopic pregnancy at the right cornua under a huge fibroid. Despite multiple doses of methotrexate for a cornual ectopic gestation, the serum beta human chorionic gonadotropin (β-hcG) levels doubled on the fifth day and a viable fetus was demonstrated on imaging. Thus surgical intervention in the form of laparoscopy followed by laparotomy, myomectomy of a large cornual fibroid and cornuostomy was performed. The serum beta human chorionic gonadotropin result was negative three weeks later. Surgical intervention in the form of myomectomy and cornuostomy was necessary to preserve fertility in this unusual presentation of cornual ectopic pregnancy.

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Twin Pregnancy with a Complete Hydatidiform Mole and a Coexisting Live Fetus : Rare entity

A hydatidiform mole with a coexisting live fetus is a rare occurrence and the optimal management for this condition is not yet known. We report the case of a 32-year-old woman (gravida 3, para 2) who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in March 2012 at 13 gestational weeks with abdominal pain and vaginal bleeding. An ultrasound examination revealed a hydatidiform mole pregnancy coexisting with a live fetus. After extensive counselling, the patient and her husband opted for a conservative management approach. Unfortunately, a hysterotomy had to be performed at 17 gestational weeks due to severe haemorrhage. The postoperative period was uneventful and histopathology results confirmed one complete mole with a coexisting fetus and normal placenta. The patient’s serum β-human chorionic gonadotropin level remained normal for 18 months following her surgery

A Massive Tuberculosis Abscess at the Erector Spinae Muscles and Subcutaneous Tissues in a Young Man

Tuberculosis (TB) is a chronic granulomatous infection which can present in an atypical form. Isolated muscle involvement is very rare. We report a 25-year-old man who presented with a massive cystic swelling on the right side of his back, extending from the lower thoracic to the gluteal region. He had a history of contact with a friend who was suspected of having TB. Magnetic resonance imaging (MRI) showed that the origin of the cyst was from the erector spinae muscles. The result of a fluid aspirate showed acid fast bacilli. The swelling disappeared after treatment with anti-tuberculous medications. Muscular involvement in TB is very rare. In our patient, the reports of an ultrasound and MRI confirmed isolated muscle and subcutaneous involvement without bony lesions. This case is reported to increase physician awareness regarding soft tissue TB. Although it is rare, similar cases may be seen in the future

Hepatic or Cystic Artery Pseudoaneurysms Following a Laparoscopic Cholecystectomy : Literature review of aetiopathogenesis, presentation, diagnosis and management

Pseudoaneurysms (PSAs) of the hepatic and/or cystic artery are a rare complication following a laparoscopic cholecystectomy (LC). Generally, PSA cases present with haemobilia several weeks following the procedure. Transarterial embolisation (TAE) is considered the optimal management approach. We report a 70-year-old woman who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2016 with massive hemoperitoneum two weeks after undergoing a LC procedure in another hospital. She was successfully managed using coil TAE. An extensive literature review revealed 101 cases of hepatic or cystic artery PSAs following a LC procedure. Haemobilia was the main presentation (85.1%) and the mean time of postoperative presentation was 36 days. The hepatic artery was involved in most cases (88.1%), followed by the cystic artery (7.9%) and a combination of both (4.0%). Most cases were managed with TAE (72.3%), with a 94.5% success rate. The overall mortality rate was 2.0%

Safety and Complications of Double-Lumen Tunnelled Cuffed Central Venous Dialysis Catheters : Clinical and radiological perspective from a tertiary centre in Oman

Objectives: This study aimed to assess the technical success, safety and immediate and delayed complications of double-lumen tunnelled cuffed central venous catheters (TVCs) at the Sultan Qaboos University Hospital (SQUH), Muscat, Oman. Methods: This retrospective study took place between January 2012 and October 2013. The clinical records and radiological data of all patients who underwent ultrasound- and fluoroscopy-guided TVC placement at SQUH during the study period were reviewed. Demographic data and information regarding catheter placement, technical success and peri- and post-procedure complications (such as catheter-related infections or thrombosis) were collected. Results: A total of 204 TVCs were placed in 161 patients. Of these, 68 were female (42.2%) and 93 were male (57.8%). The mean age of the patients was 54.4 ± 17.3 years. The most common reason for catheter placement was the initiation of dialysis (63.4%). A total of 203 procedures were technically successful (99.5%). The right internal jugular vein was the most common site of catheter placement (74.9%). Mild haemorrhage which resolved spontaneously occurred in 11 cases (5.4%). No other complications were observed. Subsequent follow-up data was available for 132 catheters (65.0%); of these, thrombosis-related catheter malfunction was observed in 22 cases (16.7%) and catheter-related infection in 29 cases (22.0%). Conclusion: Radiological-guided placement of tunnelled haemodialysis catheters can be performed safely with excellent technical success. The success rate of catheter insertion at SQUH was favourable in comparison with other studies reported in the literature

Recurrent miscalling of missense variation from short-read genome sequence data

Background: Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels of undetected variant miscalling will have a systematic and disproportionate impact on the interpretation of individual genome sequence information, especially should these also be carried through into in reference databases ofgenomic variation. Results: We find that sequence variation from short-read sequence data is subject to recurrent-yet-intermittent miscalling that occurs in a sequence intrinsic manner and is very sensitive to sequence read length. The miscalls arise from difficulties aligning short reads to redundant genomic regions, where the rate of sequencing error approaches the sequence diversity between redundant regions. We find the resultant miscalled variants to be sensitive to small sequence variations between genomes, and thereby are often intrinsic to an individual, pedigree, strain or human ethnic group. In human exome sequences, we identify 2–300 recurrent false positive variants per individual, almost all of which are present in public databases of human genomic variation. From the exomes of non-reference strains of inbred mice, we identify 3–5000 recurrent false positive variants per mouse – the number of which increasing with greater distance between an individual mouse strain and the reference C57BL6 mouse genome. We show that recurrently miscalled variants may be reproduced for a given genome from repeated simulation rounds of read resampling, realignment and recalling. As such, it is possible to identify more than two-thirds of false positive variation from only ten rounds of simulation. Conclusion: Identification and removal of recurrent false positive variants from specific individual variant sets will improve overall data quality. Variant miscalls arising are highly sequence intrinsic and are often specific to an individual, pedigree or ethnicity. Further, read length is a strong determinant of whether given false variants will be called for any given genome – which has profound significance for cohort studies that pool datasets collected and sequenced at different points in time

Agammaglobulinaemia despite terminal B-celldifferentiation in a patient with a novel LRBA mutation

Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months. He developed complete IgG deficiency, but remarkably, histological examination revealed germinal centres and plasma cells in lymphoid and inflamed lung tissue. Further charatecterisation showed these cells to express IgM but not IgG. This ex vivo analysis suggests that LRBA mutation confers a defect in class switching despite plasma cell formation

Recurrent miscalling of missense variation from short-read genome sequence data

Background Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels of undetected variant miscalling will have a systematic and disproportionate impact on the interpretation of individual genome sequence information, especially should these also be carried through into in reference databases of genomic variation. Results We find that sequence variation from short-read sequence data is subject to recurrent-yet-intermittent miscalling that occurs in a sequence intrinsic manner and is very sensitive to sequence read length. The miscalls arise from difficulties aligning short reads to redundant genomic regions, where the rate of sequencing error approaches the sequence diversity between redundant regions. We find the resultant miscalled variants to be sensitive to small sequence variations between genomes, and thereby are often intrinsic to an individual, pedigree, strain or human ethnic group. In human exome sequences, we identify 2–300 recurrent false positive variants per individual, almost all of which are present in public databases of human genomic variation. From the exomes of non-reference strains of inbred mice, we identify 3–5000 recurrent false positive variants per mouse – the number of which increasing with greater distance between an individual mouse strain and the reference C57BL6 mouse genome. We show that recurrently miscalled variants may be reproduced for a given genome from repeated simulation rounds of read resampling, realignment and recalling. As such, it is possible to identify more than two-thirds of false positive variation from only ten rounds of simulation. Conclusion Identification and removal of recurrent false positive variants from specific individual variant sets will improve overall data quality. Variant miscalls arising are highly sequence intrinsic and are often specific to an individual, pedigree or ethnicity. Further, read length is a strong determinant of whether given false variants will be called for any given genome – which has profound significance for cohort studies that pool datasets collected and sequenced at different points in time.This work has been funded by National Institutes of Health Grant AI100627 and the National Collaborative Research Infrastructure Strategy (Australia). Publication costs are funded by National Institutes of Health Grant AI100627 and the National Collaborative Research Infrastructure Strategy (Australia)