Combined medical,surgical and endovascular treatment of a giant cell arteritis case manifesting as upper limbs acute ischemia

We report a case of giant cell arteritis manifesting as upper limbs ischemia due to a complete occlusion of the left subclavian artery and a high grade stenosis of the right subclavian artery. We decided to use a combined medical, surgical and endovascular treatment followed by long term treatment with methotrexate. After 4 years the patient had no signs or symptoms of relapse. In our personal experience long term treatment with Methotrexate demonstrated a certain efficacy in avoiding relapse of the inflammatory phase and in maintaining stability of results in this kind of disease.     

Long‐term follow‐up of interferon‐alpha induction and low‐dose maintenance therapy in hairy cell leukemia

Objective: Interferon‐α (IFNα) was the first effective pharmacologic treatment of hairy cell leukemia (HCL). Since 1990 purine analogs replaced IFNα because of higher rates of complete remission and an invariable disease recurrence after cessation of IFNα. However, there are only limited data about long‐term maintenance treatment with IFNα and none about dose finding in this phase. Patients and methods: Fifty‐two consecutive patients treated at our institution for HCL are included in this retrospective analysis. Forty (77%) patients received IFNα and 35 patients continue on long‐term IFNα maintenance therapy. The initial dose of IFNα was 3 Mio IU three times per week and was tapered 6 months after initiation to doses as low as 3 Mio IU/12 wk. Dose adaptation was performed by repeated measurement of soluble Interleukin 2 receptor (sIL2R) together with peripheral blood values. Results: The median follow‐up of patients in the long‐term IFNα group was 13.6 ± 7.5 yr. Long‐term IFNα was in general well tolerated and only in six (17%) patients the treatment had to be changed to purine analogs in the long‐term IFNα group because of side effects. There are no deaths directly related to HCL. Conclusions: IFNα is still an effective and well tolerated therapeutic option. By repeated measurements of sIL2R together with the peripheral blood values, IFNα doses can be tapered to the minimal effective dose. The advantages and disadvantage of IFNα in regards to the standard treatment in HCL patients are discussed.     

Non-linear EEG analysis in children with epilepsy and electrical status epilepticus during slow-wave sleep (ESES)

OBJECTIVE: The objective of this work was to study the non-linear aspects of electroencephalography (EEG) in children with epilepsy and electrical status epilepticus during slow-wave sleep (ESES). METHODS: In this study, we recorded the sleep EEG in 5 subjects with ESES (4 males and one female, aged 6.5-10 years) who were also mentally retarded and affected by cerebral palsy (3 subjects) and hydrocephalus (two subjects). The signals were sampled at 128Hz and stored on hard disk. All the subsequent computational steps were performed on EEG epochs (4096 data points) selected from wakefulness and non-rapid eye movement (non-REM) (with ESES) or REM sleep. The dynamic properties of the EEG were assessed by means of the non-linear cross prediction (NLCP) test which uses 3 different 'model' time series in order to predict non-linearly the original data set (Pred, Ama and Tir). Pred is a measure of the predictability of the time series and Ama and Tir are measures of asymmetry, indicating non-linear structure. Moreover, the correlation dimension (D2) was estimated by means of the algorithm by for the epochs showing non-linear nature. RESULTS: The NLCP test provided evidence of significant non-linear dynamics in all epochs of non-REM sleep, when ESES was evident. Only during this stage, the possible presence of low-dimensional chaos could also be suspected (average D2=4.02; range 3.16-6.21). EEG without ESES could not be distinguished from linearly filtered noise. CONCLUSIONS: The results of the present study seem to indicate that subjects with ESES show a profound modification of their EEG dynamics with the occurrence, during sleep, of long periods characterized by non-linear dynamics and, probably, low-dimensional chaotic structure able to modify in a substantial way their brain functioning during sleep.     

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls with RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified in females with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonstrated deceleration of head growth and the development of expressive language was prevented by the presence of the tracheostomy. The clinical impression of RTT was confirmed by the recent finding of a mutation in the MECP2 gene. This case report highlights the importance of considering the clinical diagnosis of RTT even in the presence of other conditions and emphasises that girls with RTT may not be normal from birth.