Mutations in TTN are a cause of MFM, and titinopathy is more common than previously thought. The finding of the p.C30071R mutation in 3.9% of our study population is likely due to a British founder effect. The occurrence of novel FN3 domain variants, although still of uncertain pathogenicity, suggests that other mutations in this domain may cause MFM, and that the disease is likely to be globally distributed. We suggest that HMERF due to mutations in the TTN gene be nosologically classified as MFM-titinopathy.
Although there are several accepted methods of surgical treatment for single-level cervical radiculopathy, the choice depend on the surgeon's preference. The techniques may vary in peri-operative morbidity, short- and long-term outcome, but no study so far has analyzed their cost-effectiveness. This study might give some insight in balancing cost and effectiveness and deciding the right technique. Sixty consecutive patients (15 each group), mean age 36 (range 24-76 years) with single-level cervical disc disease underwent surgical treatment with four different techniques in two centers over the period of 1999-2005. The four groups were--(1) plate and tricortical autograft, (2) plate, cage, and bone substitute, (3) cage only, and (4) disc arthroplasty. The data was collected prospectively according to our protocol and subsequently analyzed. The clinical outcome was assessed comparing visual analog scale (VAS) of neck pain and, short form 12 (SF12) questionnaire both pre- and postoperatively. The radiological assessment was done for fusion rate and postoperative related possible complications at 3 months, 6 months, 1 year, and final follow-up. The cost analysis was done calculating the operative time, hospital stay, implant cost together. The mean follow-up period was 31 months (range 28-43 months). The clinical outcome in terms of VAS of neck and arm pain and SF12 physical and mental score improvement (P=0.001) were comparable with all four techniques. The radiological fusion rate was comparable to current available data. As the hospital stay was longer (average 5 days) with plate and autograft group, the total cost was maximum (average 2,920 pound sterling) with this group. There was satisfactory clinical and radiological outcome with all four techniques. Using the cage alone was the most cost-effective technique, but the disc arthroplasty was comparable to the use of cage and plate. Anterior cervical discectomy and fusion is an established surgical treatment for cervical radiculopathy. Single-level cervical radiculopathy was treated with four different techniques. The clinical outcome and cost-effectiveness were compared in this study.
Idiopathic intracranial hypertension (IIH) is defined as increased intracranial pressure in the absence of intracranial mass or obstructive hydrocephalus. Over 80% of patients are overweight women. IIH is usually encountered in the neurology and ophthalmology practise as headaches, visual disturbance and papilloedema are the characteristic features of this syndrome. Patients with IIH also experience tinnitus, hearing loss, balance disturbance, cerebrospinal fluid (CSF) otorrhoea or rhinorrhoea and in some cases these otorhinological symptoms can be presenting features of this syndrome. IIH is also associated with obstructive sleep apnoea. Otolaryngologists should be familiar with this important condition as it can manifest a variety of symptoms that are more frequently seen in their clinics. Sometimes otolaryngologists may be involved in the surgical management of this condition, such as repair of CSF rhinorrhoea or otorrhoea or endoscopic optic nerve decompression. The aim of this review article is to familiarise the otolaryngologists with the important features of this unusual syndrome which may remain unrecognised in the otolaryngology practice.
Normal pressure hydrocephalus is characterised by the triad of gait disturbance, dementia and urinary incontinence. Although our understanding of the condition has considerably improved since it was initially described over years ago, its pathophysiology is still a matter of debate. We provide an overview of the current concepts in pathophysiology and discuss the clinical features, diagnosis and treatment of this cause of dementia.
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