Objective To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders. Methods Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 αB-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients. Results In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (>50 years) with distal weakness was more often present in myotilinopathy. Conclusions Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis.

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Iliac arteries in children with a single umbilical artery: structure, calcifications, and early atherosclerotic lesions. With a single umbilical artery a unique haemodynamic situation arises during fetal development, resulting in a different calibre and structure of the iliac arteries on the two sides of the body. On the side of the single umbilical artery, the enlarged iliac arteries have the structure of elastic arteries, whereas the smaller and thin-walled iliac arteries, which do not participate in the placental circuit, show the typical structure of muscular arteries. These differences of the arterial structure determine the morphological pattern of early calcifications which are regularly present in the iliac arteries on both sides of the body, but are usually more conspicuous in the large iliac arteries on the side of the single umbilical artery. In 2 children, aged 18 months and 4 years, atherosclerotic lesions were present in the wide common iliac artery on the side of the obliterated single umbilical artery. These lesions represent the earliest atherosclerotic changes to be found in the human. They are probably related to the remodelling of these arteries, beginning after birth as an adaptation to decreased blood flow.Aplasia of one umbilical artery occurs in 0 75-1 1% of consecutive deliveries and is frequently associated with congenital malformations

Stones of the salivary glands may cause recurrent swelling, ascending inflammation, and colic-like pain. Previously, in order to get rid of these stones, the gland usually had to be removed surgically in spite of the associated risks to adjacent structures, especially the facial nerve. We treated 104 salivary gland stones in patients 14 to 78 years old using the Storz Modulith SL 10 lithotripter. Each session (average 3.6 per patient) consisted of 1000 impulses at 2 Hz and 16 to 18 kV. No anesthesia was required. Earplugs were applied to patients being treated for parotid gland stones. With the aid of SWL and drug-induced salivation, 17 (59%) of the patients with parotid gland stones and 42 (56%) of those with submandibular gland stones obtained either total stone clearance or sufficient fragmentation to permit spontaneous passage. Four patients required surgery. The remaining patients are still being treated. The noninvasive SWL for salivary gland stones is noninvasive and painless and has a considerable success rate. It can be performed on an outpatient basis.