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Chronic myeloid leukemia patients call for quality and consistency when generics are introduced to treat their cancer

Bifid median nerve is an anatomic variation that occurs in about 18% of patients with symptoms suggestive of carpal tunnel syndrome and in about 15% of symptom-free subjects. Reversed palmaris longus is a rare anatomic muscular variation. The simultaneous presence of a bifid median nerve and a reversed palmaris longus has been very rarely described, usually during surgical exploration or in cadavers. We present two cases where ultrasound showed the presence of both abnormalities, allowing a correct diagnosis and influencing the treatment plan.

In lumbar stenosis (LS) patients, clinical, neuroradiological and neurophysiological findings were not related to validated measurements of the outcomes that are more relevant to patients such as functional status and symptoms.We have retrospectively studied 30 patients surgically treated for LS. We have evaluated the patients by means of self-administered questionnaires (SF-36), clinical examination, and neuroradiological and neurophysiological measurements and we have registered preoperative and follow-up clinical and neurophysiological findings. Finally we evaluated the relations between patient-oriented data and validated conventional clinical and neurophysiological measurements.The comparison between pre- and post-operative clinical picture showed an improvement of most parameters tested. The comparison between pre- and post-operative neurophysiological picture revealed worsening of most tested parameters. The comparison between the current sample and the Italian normative data for the SF-36 showed a worsening of physical aspects of health related quality of life; conversely there was an improvement of some mental domains.In our sample of LS patients the most compromised SF-36 domain was Role-Physical that measures the difficulty in every-day activities due to physical problems. Conversely, the clinical findings showed a significant improvement after surgery: patients reported in particular lower sciatica after surgical treatment, but the neurophysiological evaluation did not show any improvement.

With the advances in diagnostic and surgical procedures, for degenerative disease of the lumbar spine an aggressive therapeutic approach is more frequently indicated. The available surgical procedures are numerous and in continuing evolution. Most common surgical procedures used in major degenerative disease of the lumbar spine as disk herniation and stenosis are described. Indications, results and complications associated to these procedures are also illustrated.

In September 1996, during a carpal tunnel syndrome (CTS) symposium, the Italian CTS Study Group was funded. The group designed a strict clinical and neurophysiological protocol for performing a wide multicentre study on idiopathic CTS in hands. In addition to the traditional evaluations, the group also adopted a validated patient-oriented measurement in order to obtain comprehensive and reliable data for the clinical picture. The study was designed to: (1) better assess the clinical picture of the CTS population, especially using new measurement tools (patient-oriented); (2) evaluate the sensitivity of an electrodiagnostic protocol; (3) re-evaluate the validity of a neurophysiological classification; and (4) evaluate the influence of social status and quantify some of the aspects regarding economic and social costs. The study design is described.

Although many studies on carpal tunnel syndrome (CTS) have been reported, few data on the natural history of CTS are available. Knowledge of the natural course of the disease has significant clinical and therapeutic value. We prospectively followed up 80 cases of untreated CTS. The evaluation was based on self-administered questionnaires and on neurophysiological investigation. According to the neurophysiological classification, cases of CTS were divided into six groups on the basis of impairment severity: negative, minimal, mild, moderate, severe, and extreme. Disease worsening was inversely related to severity of nerve entrapment. On the contrary, improvement was proportionally related to nerve function impairment (except for extreme cases that never improved), and about one-third of mild and moderate cases improved. Most minimally cases remained neurophysiologically unchanged. We hypothesize that in a good percentage of CTS cases, nerve impairment is self-limited. Our data suggest the utility of further studies on the natural course of this common disease.

To assess the clinical and neurophysiologic dissociation often observed in clinical practice, and to improve patient evaluation for diagnosis of carpal tunnel syndrome (CTS).The Italian CTS Study Group studied 1,123 idiopathic CTS hands with multiple measurements-clinical, neurophysiologic, and patient-oriented-of CTS.Clinical and neurophysiologic relationships were very strong when the clinical picture was evaluated by the hand functional measurements, with an exponential increase in functional impairment as the classification of neurophysiologic severity progressed. Conversely, symptoms and pain did not increase as the classification of neurophysiologic severity progressed: 1) A large part of the CTS population complained of severe symptoms, although minimal functional impairment and minimal or no electrophysiologic abnormalities were observed; and 2) symptoms improved in the patients with more severe neurophysiologic and clinical examination scenarios.Multiperspective and multimeasurement assessment, even when using a validated patient-oriented tool, provided interesting information that confirmed and clarified the clinical neurophysiologic dissociation often observed in carpal tunnel syndrome (CTS) patients. Furthermore, CTS appeared to be an ideal model for evaluating the importance of patient-oriented measurement.

The Italian CTS Study Group performed a wide multicentric and multiparametric study to quantify the increase of electrodiagnostic sensitivity using an extended neurophysiological protocol and particularly segmental and comparative tests. The study also evaluated the clinical features of carpal tunnel syndrome (CTS) diagnosed by these tests, using validated physician- and patient-oriented measurements. The study group was composed of 740 patients for a total of 1123 idiopathic CTS hands. Overall, the sensitivity of standard tests (median digit-wrist sensory conduction velocity and wrist-thenar distal motor latency) was 83.5%. Comparative/segmental tests disclosed abnormal findings in a further 11.4% of cases, providing CTS electrodiagnosis in about 7 of 10 "standard negative" cases. The overall sensitivity of the electrodiagnostic protocol was 94.9%. The CTS population diagnosed by segmental/comparative tests had a clinical picture characterized by a high percentage of pain, and severe discomfort but no limitation in functional daily activity. Our data confirm the usefulness of a complete neurophysiological assessment by using segmental/comparative tests when standard tests yield normal results.

We read with interest the recent report by Padua et al 1 on a body building champion with an isolated mononeuropathy of a distal branch of the femoral nerve, having recently seen a similar patient, with a different cause. A 39 year old sports physiologist underwent a resting muscle biopsy using the Bergstrom technique, for research purposes. He had previously undergone eight of these biopsies on the other leg without adverse effect, and this biopsy was performed by an experienced operator. Under lignocaine anaesthesia the biopsy needle was inserted. As manual suction was applied followed immediately by closing the biopsy needle, the subject had an intense feeling of cramp (that had not been noticed with previous biopsies). The …

The myelodysplastic syndromes comprise a heterogeneous group of neoplastic disorders characterized by ineffective hematopoiesis with an increased tendency to evolve to acute leukemia. Clinically, the common manifestations include peripheral blood cytopenias of one or more lineages and a normal to hyperplastic marrow. MDS has been defined on the basis of morphological criteria, namely the percentage of blast cells in the bone marrow, by the French-American-British study group. Scoring systems have been developed to include such factors as hemoglobin, leukocyte count and age in the evaluation of MDS prognosis. Although useful in the prediction of clinical course and design of therapy regimens, our understanding of the basis of MDS has come from recent advances in molecular analysis of these disorders. This review describes some of the established and recent contributions to our understanding of the molecular basis of the myelodysplastic syndromes.The authors of the present review have been working in the field of myelodysplastic syndromes for several years and have contributed original papers on the molecular pathogenesis of these disorders. In addition, in the present review they have critically examined articles and abstracts published in journals covered by the Science Citation Index and Medline.Cytogenetic anomalies and proto-oncogene abnormalities point to new understanding of the pathogenesis of MDS as a sequence of DNA lesions leading to the evolution of the pre-malignant clone. The prognostic significance of these factors in predicting leukemic transformation and survival remains controversial. Characterization of MDS cells in vitro in response to combinations of exogenous growth factors have not only provided valuable information regarding ineffective hematopoiesis in MDS but have provided a new insight into treatment of MDS. One major development in our understanding of MDS is the possible explanation for the apparent paradox of a cellular marrow in combination with peripheral cytopenias. Extensive premature programmed cell death or apoptosis has been reported to be at least partly responsible. It will remain to be seen whether this fundamental characteristic of myelodysplastic hematopoiesis will play a central role in the drug or genetic based therapy in the myelodysplastic syndromes.

Wiskott-Aldrich syndrome (WAS) is one of the primary immunodeficiency diseases, that is inherited as an X-linked recessive trait. Since the responsible gene, the WASP gene, has been identified, various mutations for patients with WAS have been reported. We found a novel splice-site mutation in a patient with clinically diagnosed WAS. The mutation was a replacement of ag by aa in an acceptor site of intron 2 of the WASP gene. Sequencing studies of the WASP cDNA of the patient revealed that exon 3 of the WASP gene was abnormally missing due to a splicing defect.