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Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
No full textOBJECTIVES
Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy), mimic the presentation. Here we describe learning points identified from review of four patients with LGMD 2 l who were initially incorrectly diagnosed with IIM. Our aim is to provide clinicians working in adult rheumatology services with a toolkit to help identify non-inflammatory presentations of myopathy.
METHODS
We performed retrospective review of medical notes, laboratory results, muscle imaging and histological findings of four patients with LGMD 2 l who were previously misdiagnosed with IIM. We focused on clinical presentation and progression, therapeutic agents used, and events leading to revision of the diagnosis.
RESULTS
Three males and one female patients with a mean age of 51 years at presentation were reviewed. In each case treatment with immunosuppressants, in one case for >15 years, was observed without a clear therapeutic response. All patients were negative for anti-nuclear antibodies and available myositis-associated/specific autoantibodies and associated connective tissue disease features were absent. Prominent fatty infiltration and selective muscle involvement on thigh muscle magnetic resonance imaging was a common.
CONCLUSIONS
Adult-onset genetic myopathies, particularly LGMD R12, can mimic IIM. Accurate diagnosis is crucial to avoid use of potentially harmful immunosuppressive therapies, allow appropriate genetic counselling, and facilitate involvement in research studies
Colonic Squamous Cell Carcinoma in a Patient With Lynch Syndrome: Case Report and Highlights on the Role of Biomarker-Led Management.
No full textHyperkalemia in Chronic Kidney Disease in the New Era of Kidney Protection Therapies.
No full textDespite recent therapeutic advances, chronic kidney disease (CKD) is one of the fastest growing global causes of death. This illustrates limitations of current therapeutic approaches and, potentially, unidentified knowledge gaps. For decades, renin-angiotensin-aldosterone system (RAAS) blockers have been the mainstay of therapy for CKD. However, they favor the development of hyperkalemia, which is already common in CKD patients due to the CKD-associated decrease in urinary potassium (K) excretion and metabolic acidosis. Hyperkalemia may itself be life-threatening as it may trigger potentially lethal arrhythmia, and additionally may limit the prescription of RAAS blockers and lead to low-K diets associated to low dietary fiber intake. Indeed, hyperkalemia is associated with adverse kidney, cardiovascular, and survival outcomes. Recently, novel kidney protective therapies, ranging from sodium/glucose cotransporter 2 (SGLT2) inhibitors to new mineralocorticoid receptor antagonists have shown efficacy in clinical trials. Herein, we review K pathophysiology and the clinical impact and management of hyperkalemia considering these developments and the availability of the novel K binders patiromer and sodium zirconium cyclosilicate, recent results from clinical trials targeting metabolic acidosis (sodium bicarbonate, veverimer), and an increasing understanding of the role of the gut microbiota in health and disease
Arthroscopically assisted coraco-clavicular ligament reconstruction in treatment of acute displaced distal clavicle fractures provides good to excellent shoulder function despite low union rates and high complication rates. A systematic review.
No full textPURPOSE
The aim of this systematic review was to assess the clinical outcome of arthroscopically assisted coraco-clavicular ligament (AACCL) reconstruction for treatment of displaced distal clavicle fractures in terms of union rate, complications and shoulder function.
METHODS
A review of the online databases MEDLINE and Embase was conducted on 1 January 2021 according to PRISMA guidelines. The review was registered prospectively in the PROSPERO database. Clinical studies reporting union rate, complications and shoulder function were included. The studies were appraised using the Methodological Index for Non-Randomized Studies (MINORS) tool.
RESULTS
The search strategy identified 14 studies eligible for inclusion, 12 retrospective case series and 2 nonrandomized retrospective comparative studies. All studies reported on shoulder function, union rate and complications. The overall shoulder function was good to excellent according to Constant-Murley score with mean scores ranging from 81.8 to 96.2 [I (inconsistency) = 0% (95% CI = 0% to 61%)]. The mean union rate ranging from 70% to 100% [I (inconsistency) = 32.6% (95% CI = 0% to 63.4%)] and the mean complication rate ranging from 0 to 28.6% [I (inconsistency) = 43.4% (95% CI = 0% to 68.4%)]. The commonest complications were hardware related (3.1%), wound related (2.7%) and post-operative shoulder stiffness (2.2%).
CONCLUSION
This systematic review has analysed clinical studies that evaluated the outcome of AACCL reconstruction in displaced distal clavicle fractures. The overall findings of this SR are that the union rate can be as low as 70% with this technique and complication rate as high as 28.6%. The overall shoulder function was good to excellent according to Constant-Murley score. As the literature surrounding this topic is heterogenous, further comparative clinical studies are required to assess superiority compared to other traditional techniques LEVEL OF EVIDENCE: Systematic review of Level III and IV studies
SARS-CoV-2-specific IgG1/IgG3 but not IgM in children with Pediatric Inflammatory Multi-System Syndrome.
No full textHypothalamo-Pituitary axis and puberty.
No full textPuberty is a complex process that culminates in the acquisition of psychophysical maturity and reproductive capacity. This elaborate and fascinating process marks the end of childhood. Behind it lies a complex, genetically mediated neuroendocrine mechanism through which the gonads are activated thanks to the fine balance between central inhibitory and stimulating neuromodulators and hormones with both central and peripheral action. The onset of puberty involves the reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, supported by the initial "kiss" between kisspeptin and the hypothalamic neurons that secrete GnRH (the GnRH "pulse generator"). This pulsatile production of GnRH is followed by a rise in LH and, consequently, in gonadal steroids. The onset of puberty varies naturally between individuals, and especially between males and females, in the latter of whom it is typically earlier. However, pathological variations, namely precocious and delayed puberty, are also possible. This article reviews the scientific literature on the physiological mechanisms of puberty and the main pathophysiological aspects of its onset
Cerebral venous thrombosis after vaccination against COVID-19 in the UK: a multicentre cohort study.
No full textBACKGROUND
A new syndrome of vaccine-induced immune thrombotic thrombocytopenia (VITT) has emerged as a rare side-effect of vaccination against COVID-19. Cerebral venous thrombosis is the most common manifestation of this syndrome but, to our knowledge, has not previously been described in detail. We aimed to document the features of post-vaccination cerebral venous thrombosis with and without VITT and to assess whether VITT is associated with poorer outcomes.
METHODS
For this multicentre cohort study, clinicians were asked to submit all cases in which COVID-19 vaccination preceded the onset of cerebral venous thrombosis, regardless of the type of vaccine, interval between vaccine and onset of cerebral venous thrombosis symptoms, or blood test results. We collected clinical characteristics, laboratory results (including the results of tests for anti-platelet factor 4 antibodies where available), and radiological features at hospital admission of patients with cerebral venous thrombosis after vaccination against COVID-19, with no exclusion criteria. We defined cerebral venous thrombosis cases as VITT-associated if the lowest platelet count recorded during admission was below 150 × 10 per L and, if the D-dimer was measured, the highest value recorded was greater than 2000 μg/L. We compared the VITT and non-VITT groups for the proportion of patients who had died or were dependent on others to help them with their activities of daily living (modified Rankin score 3-6) at the end of hospital admission (the primary outcome of the study). The VITT group were also compared with a large cohort of patients with cerebral venous thrombosis described in the International Study on Cerebral Vein and Dural Sinus Thrombosis.
FINDINGS
Between April 1 and May 20, 2021, we received data on 99 patients from collaborators in 43 hospitals across the UK. Four patients were excluded because they did not have definitive evidence of cerebral venous thrombosis on imaging. Of the remaining 95 patients, 70 had VITT and 25 did not. The median age of the VITT group (47 years, IQR 32-55) was lower than in the non-VITT group (57 years; 41-62; p=0·0045). Patients with VITT-associated cerebral venous thrombosis had more intracranial veins thrombosed (median three, IQR 2-4) than non-VITT patients (two, 2-3; p=0·041) and more frequently had extracranial thrombosis (31 [44%] of 70 patients) compared with non-VITT patients (one [4%] of 25 patients; p=0·0003). The primary outcome of death or dependency occurred more frequently in patients with VITT-associated cerebral venous thrombosis (33 [47%] of 70 patients) compared with the non-VITT control group (four [16%] of 25 patients; p=0·0061). This adverse outcome was less frequent in patients with VITT who received non-heparin anticoagulants (18 [36%] of 50 patients) compared with those who did not (15 [75%] of 20 patients; p=0·0031), and in those who received intravenous immunoglobulin (22 [40%] of 55 patients) compared with those who did not (11 [73%] of 15 patients; p=0·022).
INTERPRETATION
Cerebral venous thrombosis is more severe in the context of VITT. Non-heparin anticoagulants and immunoglobulin treatment might improve outcomes of VITT-associated cerebral venous thrombosis. Since existing criteria excluded some patients with otherwise typical VITT-associated cerebral venous thrombosis, we propose new diagnostic criteria that are more appropriate.
FUNDING
None
The role of cervical collars and verbal instructions in minimising spinal movement during self-extrication following a motor vehicle collision - a biomechanical study using healthy volunteers.
No full textBACKGROUND
Motor vehicle collisions account for 1.3 million deaths and 50 million serious injuries worldwide each year. However, the majority of people involved in such incidents are uninjured or have injuries which do not prevent them exiting the vehicle. Self-extrication is the process by which a casualty is instructed to leave their vehicle and completes this with minimal or no assistance. Self-extrication may offer a number of patient and system-wide benefits. The efficacy of routine cervical collar application for this group is unclear and previous studies have demonstrated inconsistent results. It is unknown whether scripted instructions given to casualties on how to exit the vehicle would offer any additional utility. The aim of this study was to evaluate the effect of cervical collars and instructions on spinal movements during self-extrication from a vehicle, using novel motion tracking technology.
METHODS
Biomechanical data on extrications were collected using Inertial Measurement Units on 10 healthy volunteers. The different extrication types examined were: i) No instructions and no cervical collar, ii) No instructions, with cervical collar, iii) With instructions and no collar, and iv) With instructions and with collar. Measurements were recorded at the cervical and lumbar spine, and in the anteroposterior (AP) and lateral (LAT) planes. Total movement, mean, standard deviation and confidence intervals are reported for each extrication type.
RESULTS
Data were recorded for 392 extrications. The smallest cervical spine movements were recorded when a collar was applied and no instructions were given: mean 6.9 mm AP and 4.4 mm LAT. This also produced the smallest movements at the lumbar spine with a mean of 122 mm AP and 72.5 mm LAT. The largest overall movements were seen in the cervical spine AP when no instructions and no collar were used (28.3 mm). For cervical spine lateral movements, no collar but with instructions produced the greatest movement (18.5 mm). For the lumbar spine, the greatest movement was recorded when instructions were given and no collar was used (153.5 mm AP, 101.1 mm LAT).
CONCLUSIONS
Across all participants, the most frequently occurring extrication method associated with the least movement was no instructions, with a cervical collar in situ
Multicentre Outcomes of Redo Fenestrated/Branched Endovascular Aneurysm Repair to Rescue Failed Fenestrated Endografts.
No full textOBJECTIVE
To report the outcomes of redo fenestrated and/or branched endovascular aortic repair (F/BEVAR in FEVAR) to rescue previous failed FEVAR.
METHODS
Retrospective review of all consecutive patients undergoing F/BEVAR in FEVAR at eight aortic centres including pre-, intra-, and post-operative data according to a pre-established protocol. Follow up consisted of at least yearly computed tomography angiography. Values are presented as median and interquartile range, and survival as estimate ± standard error in percentage.
RESULTS
18 male patients (76 years old; range 69 - 78 years) receiving FEVAR involving two (two or three) target vessels between 2006 and 2016 underwent F/BEVAR in FEVAR between 2012 and 2019 (aneurysm diameter of 63 mm; range 56 - 69 mm). Median interval between the procedures was 53 (29 - 103) months. The indication for F/BEVAR in FEVAR was type Ia endoleak in 16 cases (eight isolated and eight combined with graft migration), one graft migration without endoleak and one migration with significant proximal aortic expansion. F/BEVAR in FEVAR involved all patent renovisceral arteries and had an operating time of 260 (204 - 344) minutes. Technical success was achieved in 15 (83%) cases. There was a failure to bridge one renal artery, one renal capsular bleed with the subsequent need for renal artery embolisation within 24 hours and one persistent type Ib endoleak despite iliac extension. There was no peri- or in hospital death. Two patients developed spinal cord ischaemia, one transient paraparesis and one permanent paraplegia. The latter occurred in a non-staged procedure where spinal drainage was used. During a follow up of 27 (7 - 39) months, three (17%) patients underwent late re-interventions. Overall survival at 24 months was 70 ± 11% with no aneurysm related death and a secondary clinical success at 24 months of 84 ± 11%.
CONCLUSION
F/BEVAR in FEVAR is a technically challenging but feasible solution to rescue failed FEVAR. The outcomes are promising in many aortic centres but need to be confirmed by further studies with longer follow up
A single-centre ten-year retrospective cohort study of malignant small bowel obstruction.
No full textINTRODUCTION
Management of malignant small bowel obstruction (mSBO) is challenging. The decision to perform an operation evaluates the perceived chance of success against a patient's fitness for operation. The aim of this study was to characterise the mSBO patient population in a tertiary UK centre and assess the patient's treatment pathway including use and effects of palliative surgery, total parenteral nutrition (TPN), Gastrografin and dexamethasone as well as preoperative stratification.
METHODS
Patients were included if they had mSBO confirmed on computed tomography imaging due to a primary or metastatic neoplasm. Data were collected on pathway and management, and Cox proportional hazard methods were utilised to observe effects on survival.
RESULTS
Ninety-four patients were included, with 104 inpatient episodes. Mean age was 67.4 (SD 13.7), with 57 (60.6%) females. Most (89.4%) had only one admission for mSBO. Eighty-four (89.4%) patients died over the ten-year period, 18 (17.3%) within 30 days of admission. Fifty patients (53.1%) underwent operative management: 70% bypass, 24% stoma formation and 6% open-close laparotomies. Log rank testing of survival probability analysis was significant (= 0.00018), with 50% survival probability at 107.32 days for operative management and 47.87 days for non-operative.
DISCUSSION AND CONCLUSION
Operative management forms part of the treatment pathway for a significant proportion of patients with mSBO, offering a survival benefit, though quality of survival is not known. Case selection is good, with few open-close laparotomies. Trials of non-operative interventions such as Gastrografin and dexamethasone are not utilised fully