Neuromuscular features in Marfan syndrome.

Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography (EMG), muscle ultrasound, laboratory investigation, and muscle biopsy. Existing neuroimages were screened for dural ectasia and spinal meningeal cysts. Twenty healthy controls with similar age distribution completed the questionnaire. The results showed that various neuromuscular symptoms occur more frequently in the patients. Four older patients reported muscle weakness, five patients had a mild-to-moderate reduction in vibration sense, and all older patients mentioned mild functional impairments. NCS showed axonal polyneuropathy in four and EMG myopathic and neurogenic changes in all patients. Increased echo intensity and atrophy on muscle ultrasound was found in more than half of the patients. Muscle biopsies obtained in two patients showed myopathic changes in the older, female patient. In conclusion, the majority of Marfan patients exhibited neuromuscular symptoms characterized as myopathy or polyneuropathy or both, and signs of lumbosacral radiculopathy, with symptoms being most pronounced in the older patients. Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population.

Diagnostic and therapeutic approach of congenital solitary coronary artery fistulas in adults: Dutch case series and review of literature.

BACKGROUND: Coronary artery fistulas (CAFs) are infrequent anomalies, coincidentally detected during coronary angiography (CAG). AIM: To elucidate the currently used diagnostic imaging modalities and applied therapeutic approaches. MATERIALS AND METHODS: Five Dutch patients were found to have CAFs. A total of 170 reviewed subjects were subdivided into two comparable groups of 85 each, treated with either percutaneous 'therapeutic' embolisation (PTE group) or surgical ligation (SL group). RESULTS: In our series, the fistulas were visualised with several diagnostic imaging tests using echocardiography, multidetector computed tomography, and CAG. Four fistulas were unilateral and one was bilateral; five originated from the left and one originated from the right coronary artery. Among the reviewed subjects, high success rates were found in both treatment groups (SL: 97% and PTE: 93%). Associated congenital or acquired cardiovascular disorders were frequently present in the SL group (23%). Bilateral fistulas were present in 11% of the SL group versus 1% of the PTE group. The fistula was ligated surgically in one and abolished percutaneously in another. Medical treatment including metoprolol was conducted in two, and watchful waiting follow-up was performed in one. CONCLUSIONS: Several diagnostic imaging techniques are available for assessment of the anatomical and functional characteristics of CAFs.

Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.

Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in the lower lumbar and sacral region and occurs in over 90% of Marfan patients. We here report three patients with lumbar and/or sacral radiculopathy due to (kypho)scoliosis and dural ectasia with spinal meningeal cysts. The pain, muscle weakness, muscle atrophy, and sensory disturbances illustrate the severe neurological complications which may occur in Marfan syndrome, especially at later age. Awareness of these complications and development of management protocols is essential since life expectancy of Marfan patients has increased. Marfan syndrome might gradually become recognized as an inherited connective tissue disorder with potentially severe neurological complications during ageing.

Surfer wipe out by predator fish.

Needlefish injuries, commonly reported in the Indo-Pacific region, have not been previously reported along the European coastlines. This case report describes a penetrating injury to the heel of a professional surfer during competition off the Portuguese coast. Diagnostic as well as therapeutic recommendations are made.

Giving color to a new curriculum: bodypaint as a tool in medical education.

We describe a new method, bodypainting, to enhance courses in living anatomy. This novel approach was fully integrated in a course that comprised gross anatomy, living anatomy, and physical examination of the major abdominal and thoracic organs. We designed a course in which the students familiarized themselves with the surface markings and subsequently painted the full organ at the site of its projection on the body surface. Based on our first experiences, we conclude that the course is a successful and enjoyable means of teaching various aspects of anatomy in relation to physical examination. This was confirmed by an evaluation among the first groups of students.