[Diagnostic and clinical behaviour with Tarlov cyst in gynaecology practice].

The following presents cases from the gynaecological practice which resulted in a surgical intervention due to the detection of cystic formations of origin out of the reproductive system. Although rare, Tarlov cyst has its place in the differential diagnostic plan of ovarian formations. MRI scan remains an alternative to the ultrasound imagery and is the main diagnostic method for obtaining the right diagnosis. This further aids the set of actions appropriate with patients suffering from Tarlov cyst. Thus, unnecessary abdominal surgical interventions are not to be undertaken.

CT-guided infiltration of greater occipital nerve for refractory craniofacial pain syndromes other than occipital neuralgia.

PURPOSE: The purpose of this study was to evaluate the effectiveness of computed tomography (CT)-guided infiltration of greater occipital nerve (GON) for the treatment of refractory craniofacial pain syndromes other than occipital neuralgia. MATERIALS AND METHODS: Fifty-six patients suffering from refractory craniofacial pain syndromes were included between 2011 and 2017. There were 33 women and 23 men with a mean age of 50.7 years±13.1 (SD) (range: 27-74 years). CT-guided infiltration was performed at the intermediate site of the GON with local anesthetics and cortivazol. Twenty-six (26/56; 46%) patients suffered from chronic migraine, 14 (14/56; 25%) from trigeminal neuralgia and 16 (16/56; 29%) from cluster headaches. Clinical success at 1, 3, and 6 months was defined by a decrease of at least 50% of pain as assessed using visual analog scale (VAS). RESULTS: Mean overall VAS score before infiltration was 8.7±1.3 (SD) (range: 6 - 10). Mean overall VAS scores after infiltration were 2.3±3 (SD) (range: 0 - 10) (P<0.01) at one month, 3.5±3.3 (SD) (range: 0 - 10) (P<0.01) at three months and 7.6±1.3 (SD) (range: 1-10) (P<0.01) at six months. After infiltration, clinical success was achieved in 44 patients (44/56; 78.5%) at 1 month, 37 patients (37/56; 66%) at 3 months and 13 patients (13/56; 23%) at 6 months. Clinical success according to the clinical presentation were as follows: 88% (23/26) at one month, 73% (19/26) at 3 months, and 23% (6/26) at 6 months in patients with chronic migraine, 81% (13/16), 69% (11/16) and 31% (5/16) in those with cluster headaches and 57% (8/14), 50% (7/14) and 14% (2/14) in those with trigeminal neuralgia. No major complications due to CT-guided GON infiltration were reported in any patient. CONCLUSION: CT-guided infiltration at the intermediate site of the GON appears as an effective treatment of craniofacial pain syndromes especially in patients with chronic migraine and those with cluster headaches.

[Combined bipolar radiofrequency and cementoplasty of bone metastases]. / Radiofréquence bipolaire et cimentoplastie dans le traitement des métastases osseuses.

Bone metastases are the most common cause of pain in cancer patients. Pain management in cancer patients, often revealing the disease and always present at advanced stages, is an important and difficult task. Pain is not always properly controlled by high doses of specific medication, radiation therapy or chemotherapy. When these therapies do not provide adequate pain relief, percutaneous neurolysis, infiltrations, alcoholizations and cementoplasty may be considered. More recently RF ablation has been proposed. On weight-bearing bones, RF can be combined with acrylic cement injection. The authors present here this very effective new technique which is complementary to classical pain management techniques.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

OBJECTIVE: In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance. METHODS: We performed neurologic, electrophysiologic, radiologic, and histopathologic analyses of 13 patients and 13 at-risk but asymptomatic individuals from 3 generations. Genome-wide parametric linkage analysis was followed by bidirectional sequencing of the filamin C (FLNC) gene. We characterized the identified nonsense mutation at cDNA and protein level. RESULTS: Based on clinical findings, no known myopathy subtype was implicated in our distal myopathy patients. Light microscopic analysis of affected muscle tissue showed no specific hallmarks; however, the electron microscopy revealed changes compatible with myofibrillar myopathy. Linkage studies delineated a 9.76 Mb region on chromosome 7q22.1-q35 containing filamin C (FLNC), a gene previously associated with myofibrillar myopathy. Mutation analysis revealed a novel c.5160delC frameshift deletion in all patients of the 3 families. The mutation results in a premature stop codon (p.Phe1720LeufsX63) that triggers nonsense-mediated mRNA decay. FLNC transcript levels were reduced in muscle and lymphoblast cells from affected subjects and partial loss of FLNC in muscle tissue was confirmed by protein analysis. CONCLUSIONS: The FLNC mutation that we identified is distinct in terms of the associated phenotype, muscle morphology, and underlying molecular mechanism, thus extending the currently recognized clinical and genetic spectrum of filaminopathies. We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.