The cervical spine involvement in patients with psoriatic arthritis

Psoriatic arthritis (PsA) is a systemic disease and cervical spine can be affected. The data regarding cervical spondylitis are very rare and diverse in literarture. The aim of study was to assess the prevalence of cervical spine involvement in patients with PsA. Between totally 41 patients with PsA we confirmed the incidence of 68% (29 patients) with symptomatic cervical spine disease and 29% (12 patients) with radiological evidence of inflammatory involvement. The most frequent radiological findings were apophyseal joint changes, rarely ligamentous calcification and syndesmophytes. Only one patient had subaxial subluxation. The most common type of PsA was axial disease with or without peripheral arthritis (46%) and the least common was oligoarthritis (22%). There was no statistically significant difference between any type of PsA and cervical involvement. CONCLUSION: inflammatory cervical spine changes are not common radiographic finding in patients with PsA and apophyseal joint affection is the most common radiologic sign.     

Schwangerschaftsassoziierte transiente Osteoporose der Hüfte

Transient osteoporosis of the hip is a rare clinical disorder of unknown etiology, characterized by hip pain and functional disability that resolves spontaneously in 6-24 months. Despite a benign prognosis, the long clinical course causes prolonged disability. We report on a case of transient osteoporosis of the hip during pregnancy that was rapidly resolved with the use of calcitonin. An accurate diagnosis was made 2 months after the onset of symptoms (4 weeks postpartum) based on findings in the form of bone marrow edema of the right hip by magnetic resonance imaging. The patient received calcitonin for 8 weeks and the beneficial effect was observed after 3 weeks of therapy with full resolution of symptoms after 8 weeks of therapy (4 months after onset of symptoms). We suggest that the use of calcitonin may be considered as a therapeutic intervention to shorten the disease duration.     

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)

Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abnormalities in patients with Smith-Magenis syndrome with defined chromosomal rearrangements and to describe the spectrum of abnormal EEG patterns. Prolonged video-EEGs were obtained in 60 patients. Eighteen percent of patients reported a seizure history; however, abnormal EEGs were identified in 31 of the 60 subjects and 27 of 31 were epileptiform. Generalized epileptiform patterns were the most common (73%). Most patients with either small or large deletions had an abnormal EEG (83%; 75%) in contrast to those with a common deletion (49%). Our results indicate that epileptiform EEG abnormalities are frequent in patients with Smith-Magenis syndrome. Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical seizures, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype.     

Progressive form of pulmonary Langenharns' cell histiocytosis in a female adult non-smoker

Little is known about the cause, nature, treatment and prognosis of pulmonary Langerhans' cell histiocytosis (LCH) in adults. We report the case of a 44-year-old female non-smoker suffering from pulmonary histiocytosis who after a 7-year remission period relapsed with both lung and bone disease. Using a combination of corticosteroids, methotrexate and bone irradiation treatment, the patient achieved total disease remission. The patient was a non-smoking female who has had long-term and swift remission of the disease on two occasions.     

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.