Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. The mutation explains up to 14 % of CMT2 in Finland, where most patients with axonal neuropathy have remained without molecular diagnosis. Only three families out of 28 were found to carry putative disease mutations in the MFN2 gene encoding mitofusin 2. In addition, the MFN2 variant p.V705I was commonly found in our patients, but we provide evidence that this previously described mutation is a common polymorphism and not pathogenic. GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype. Besides distal leg muscle weakness, most patients showed mild proximal weakness, often with asymmetry and pes cavus. Our findings broaden the understanding of GDAP1 mutations in CMT2 phenotypes and provide support for the use of whole-exome sequencing in CMT gene diagnostics.     

The evolution and refinement of traditional risk factors for cardiovascular disease

Traditional risk factors for cardiovascular disease such as systemic hypertension and hypercholesterolemia, all described more than half a century ago, are relatively few in number. Efforts to expand the epidemiologic canon have met with limited success because of the high hurdle of causality. Fortunately, another solution to current deficiencies in risk assessment-in particular, the underestimation of risk both before and after initiation of pharmacotherapy-may exist. Parallel to the investigation of novel biomarkers, such as high-sensitivity C-reactive protein, ongoing research has yielded improved metrics of known causative conditions. This evolution of traditional risk factors, heralded by measures such as ambulatory blood pressure, central hemodynamics, low density lipoprotein particle concentration, genetic testing, and "vascular age," may better address the detection gap in cardiovascular disease.     

Prospective study of an ultra-lightweight polypropylene Y mesh for robotic sacrocolpopexy

Introduction and hypothesis

To prospectively evaluate the use of a particular polypropylene Y mesh for robotic sacrocolpopexy.

Methods

This was a prospective study of 120 patients who underwent robotic sacrocolpopexy. We compared preoperative and 12-month postoperative objective and subjective assessments via the Pelvic Organ Prolapse Quantification (POP-Q), the Pelvic Floor Distress Inventory, Short Form 20 (PFDI-20); the Pelvic Floor Impact Questionnaire, Short Form 7 (PFIQ-7); and the Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire 12 (PISQ-12). Objective “anatomical success” was defined as POP-Q stage 0 or 1 at all postoperative intervals. We further defined “clinical cure” by simultaneously considering POP-Q points and subjective measures. To be considered a “clinical cure,” a given patient had to have all POP-Q points ≤0, apical POP-Q point C ≤5, no reported pelvic organ prolapse symptoms on the PFDI-20, and no reoperation for prolapse at all postoperative intervals.

Results

Of the 120 patients, 118 patients completed the 1-year follow-up. The objective “anatomical success” rate was 89 % and the “clinical cure” rate was 94 %. The PFDI-20 mean score improved from 100.4 at baseline to 21.0 at 12 months (p?<?0.0001); PFIQ-7 scores improved from 61.6 to 8.0 (p?<?0.0001); and PISQ-12 scores improved from 35.7 to 38.6 (p?<?0.0009). No mesh erosions or mesh-related complications occurred.

Conclusion

The use of this ultra-lightweight Y mesh for sacrocolpopexy, eliminated the mesh-related complications in the first postoperative year, and provided significant improvement in subjective and objective outcomes.     

Cauda Equina Intradural Extramedullary Cavernous Haemangioma: Case Report and Review of the Literature

Cavernous haemangioma (cavernoma) is a benign vascular lesion, exceptionally located in cauda equina. We report a case, diagnosed and operated in the Department of Neurosurgery from Pitesti County Emergency Hospital, of a 60-year-old woman with history of lumbar region distress, who presented with low back pain, paravertebral muscle contracture, and bilateral lumbar radiculopathy, with sudden onset after lifting effort. The preoperative diagnosis was done using computed tomography (CT) and magnetic resonance imaging (MRI), and the patient underwent surgery—two level laminectomy, dural incision, and tumor dissection from the cauda equina nerve roots under operatory microscope. Histopathological examination confirmed the positive diagnosis of cavernoma of cauda equina. The patient''s outcome was favorable, without postoperative neurological deficits.