Endovascular Management of Spontaneous Subclavian Artery Dissection.

Spontaneous subclavian artery dissection (SCAD) is a rare clinical observation with very few cases reported in the medical literature. We describe a rare case of a 50-year-old female patient who presented with symptoms of critical limb ischemia of the right upper extremity. A digital subtraction angiogram (DSA) revealed a dissection in the proximal course of the subclavian artery (SCA). Prompt recanalization with endovascular therapy produced an excellent result.

Role of Transluminal Balloon Angioplasty for the Treatment of Vasospasm Due to Aneurysmal Subarachnoid Haemorrhage: A Multicentric Indian Experience.

Background Aneurysmal Subarachnoid Haemorrhage (aSAH) is a complex and critical neurological condition associated with significant mortality and morbidity. Apart from the initial insult due to the aneurysmal rupture itself, re-bleeding and severe cerebral vasospasm are some of the complications of aSAH that result in overall poor outcomes. Cerebral vasospasm in post-aSAH can result in delayed ischaemic neurological deficits. In the absence of timely interventions, it can lead to grave consequences for the patient. Management of cerebral vasospasm has been evolving over the years to prevent mortality and morbidity in aSAH patients. Materials and methods During 36 months from January 2018 to December 2020, 164 patients were admitted with aSAH in multiple Indian centres. Endovascular methods were used to treat all the aneurysms. Patients were observed for clinically symptomatic cerebral vasospasm. Patients with suspected vasospasm were further evaluated with a transcranial Doppler (TCD), brain computed tomography (CT) or magnetic resonance imaging (MRI) scan. In addition, digital subtraction angiography (DSA) of cerebral vessels was performed to evaluate vasospasm further. Twenty-two patients had clinically and angiographically significant vasospasm, and 20 patients were treated with transluminal balloon angioplasty (TBA). Results Satisfactory lumen dilation was achieved in 79 out of the 91 (86.81%) vasospastic segments, namely, distal internal carotid arteries (ICAs) 100%; middle cerebral arteries (MCA) 97.56% (M1=100%, M2=100%, M3=87.5%); vertebral arteries-100%; basilar arteries-100%; anterior cerebral arteries (ACA) 67.64% (A1=75%, A2=57.14%). The mean Modified Rankin Scale (mRS) score at 90 days was 0.75. 17 patients (85%) had an overall good outcome with no new neurological deficits. There were no cases of vessel rupture, dissection or thromboembolic complications. Conclusion TBA is a valuable, safe and effective option for managing clinically significant vasospasm caused by aSAH, adjuvant to medical management.

A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India.

OBJECTIVE: In this prospective study conducted over 2 years, 300 nonconsecutive cases of autosomal recessive limb girdle muscular dystrophies (AR-LGMD) were characterized, based on phenotypic features, biochemical findings, electrophysiological studies, muscle immunohistochemistry (IHC), and western blot (WB) analysis. METHODS: Muscle biopsy was performed in 280 index cases. 226 biopsies were subjected for IHC, and, 176 of these for WB analysis. RESULTS: A total of 246 patients were finally analyzed. This figure included 20 affected siblings. LGMD2B was the most common form and comprised of 33.3% (n = 82) of the entire cohort. This was followed by alpha-dystroglycanopathies with 61 (24.79%) patients (LGMD2I in 15, 2K in 10 and combined deficiency of both in the remaining). LGMD 2C-F was present in 35 (14.23%) cases and LGMD2A in 22 (10.2%) cases, and were identified by routine WB, densitometry method and autocatalytic assay. LGMD2G was present in 8 patients (3.25%), and LGMD2H and 2J in 2 cases each, respectively. CONCLUSIONS: For the first time, we have identified patients with LGMD2G, 2H, 2I, and 2K by the WB technique. These may be the common forms of autosomal recessive (AR)-LGMD's among Indian patients and need identification for prognostication and appropriate counseling. Although not a nationwide study, our data is sufficient to provide information about the relative proportions of various LGMD2 subtypes in India. Diagnosing LGMD2 based on classical clinical features, IHC and WB is fairly sensitive and specific; however, further genetic studies are required to confirm the diagnosis.

Intravenous thrombolysis in a patient with left atrial myxoma with acute ischemic stroke.

Intravenous thrombolysis (IVT) is an accepted therapy in patients with acute ischemic stroke presenting within 3-4.5 hours of symptom onset. Selection of the patient for thrombolysis depends on the careful assessment for the risk of post thrombolysis symptomatic haemorrhage (6.2-8.9%) which may be fatal. Atrial myxomas which are the commonest tumors of the heart are associated with stroke due to tumor/clot embolism. There are very few case reports of IVT and its outcome in patients with atrial myxoma with stroke. Some have reported successful thrombolysis, while others have reported intracerebral bleeding. In this report we describe our experience of IVT in atrial myxoma patient with ischemic stroke and review the relevant literature.

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well characterised LGMD2G cases from 7 unrelated Dravidian families. Clinical examination revealed predominantly proximo-distal form of weakness, scapular winging, muscle atrophy, calf hypertrophy and foot drop, immunoblot showed either complete absence or severe reduction of telethonin. Genetic analysis revealed a novel nonsense homozygous mutation c.32C>A, p.(Ser11*) in three patients of a consanguineous family and an 8 bp homozygous duplication c.26_33dupAGGTGTCG, p.(Arg12fs31*) in another patient. Both mutations possibly lead to truncated protein or nonsense mediated decay. We could not find any functionally significant TCAP mutation in the remaining 6 samples, except for two other polymorphisms, c.453A>C, p.( = ) and c.-178G>T, which were found in cases and controls. This is the first report from India to demonstrate TCAP association with LGMD2G.