Frequency of molecular alterations in heterozygous beta-thalassemia in southern Spain and their relation to the hematologic phenotype

INTRODUCTION: Heterozygous beta-thalassemia manifests hematologically with microcytosis, reduced red blood cell hemoglobin concentration and high hemoglobin A2 levels. Almost all molecular alterations are due to point mutations. We attempt to determinate the frequency of that mutations in the Oriental Andalusia Area, and its relationship with the hematological phenotype. PATIENTS AND METHODS: We have studied 45 heterozygous patients. DNA samples were amplified by PCR, using the printers CD7 and HI1. A 16 Kb fragment corresponding to beta globin gene was obtained and analyzed by Dot Blot assay and hybridized with allelic specific oligonucleotide (ASO) probes to detect the 6 more frequent mutations found in the South of Spain. RESULTS: Codon 39 nonsense mutation (31.1%) was the most frequent finding followed by IVS-1 NT 110 (26.7%). The relationship between hematological parameters and molecular mutations concluded that IVS-I NT 6 mutation developed a minimal anemia. DISCUSSION: From the practical point of view, this study indicates that we were able to detect more than 90% of heterozygous beta-tal. with 5 out of 6 ASO probes used in this work. Thus, our data also provides a further implication in prenatal diagnosis.     

Cardiac tamponade as a presentation of primary hypothyroidism in a young woman

Pericardial effusion (PE) as a hypothyroidism associated sign, is something that can be found with relative frequency; nevertheless, cardiac tamponade (CT) as the first sign of this disease may be considered exceptional especially in young patients. We report a 31 years old woman with clinical symptoms and signs of CT that in the forward workshop was diagnosed of primary hypothyroidism as cause of the CT. We shortly describe the case and review the literature, emphasizing the importance of the knowledge of CT trigger factors in myxedematous PE, as well as its usual benign evolution with hormonal treatment, without recurrences of the CT after pericardiocentesis is performed. This justify a conservative approach, in spite of the slow resolution of the PE what can take as long as 1.5 years.     

Abnormal sensory nerve conduction in multifocal demyelinating neuropathy with persistent conduction block

Two patients exhibited chronic, slightly asymmetric weakness and wasting with fasciculations of the upper limb and hand muscles. Motor nerve conduction studies showed features of multifocal conduction block in nerve segments other than those usually involved in entrapment syndromes. The F wave was markedly delayed in the median and ulnar nerves. Transcranial cortical and cervical root magnetic stimulation showed bilaterally delayed thenar responses with normal central conduction time. Needle electromyography demonstrated a chronic denervation pattern with large polyphasic motor units in several muscles of the upper limbs. Sensory symptoms were mild and limited to paresthesias in the fingertips. Sensory nerve conduction velocity and sensory nerve action potential amplitudes were normal in elbow-to-wrist and wrist-to-finger segments of the median and ulnar nerves, but there was a delayed cortical response and unrecognizable Erb's point and cervical responses in the somatosensory evoked potentials to median nerve electrical stimulation. Electrophysiologic examination was normal in most nerves of the lower limbs. These two patients, meeting clinical and electrophysiologic criteria of multifocal neuropathy with conduction block, demonstrate that sensory fibers may also be involved in this syndrome.     

Task-relevant late positive component in rats: is it related to hippocampal theta rhythm?

In the last 2 years (1994-95), two symposium volumes and three reviews have been published that were fully devoted to peptide antibiotics (antibacterial peptides or antimicrobial peptides). Since the field has been growing rapidly, this review is largely a follow-up of new results published in the last 2 years. Sequencing of the 16S RNA of the small ribosomal subunit indicate that the microbial world is much larger than generally appreciated. The importance of the natural flora is stressed and its effect on the evolution of peptide antibiotics and immunity in general is discussed.     

Decision by the Principle Board of the Polish Allergy Society

A review of isolates of Neisseria meningitidis and other laboratory evidence of meningococcal infection was carried out for the period 1990-1995. Thirty-three patients with evidence of meningococcal disease were identified over the six year period. Group B organisms were the most commonly identified, but an increase in Group C has occurred and is almost equal in number. Data from clinical, laboratory and public health sources should be centralized in a National Surveillance Centre.     

Patient characteristics, MRI examination, and dopaminergic drug response in clinical possible Parkinson''s disease

As hypersensitivity to natural rubber latex (NRL) has become an increasingly recognized problem in children, identification of all groups at risk seems important. In this study hypersensitivity to NRL was evaluated in 337 children with potential risk factors. We identified by questionnaire children's underlying diseases, history of surgical procedures, evidence of atopy and patient's history of NRL-specific reactions. Hypersensitivity to NRL and other allergens relevant in the Düsseldorf area was evaluated by skin prick test and specific IgE. In 9.2% of all children hypersensitivity to NRL was observed. Significant risk factors for hypersensitivity to NRL were, among the underlying diseases, spina bifida (odds ratio 29.2), hydrocephalus internus (10.1), gastrointestinal malformation (5.2) and atopy (2.2). Surgical procedures with significant risk were the implantation of a ventriculo-peritoneal shunt (15.7) and surgery of the gastrointestinal tract (3.1). Frequency of surgical procedures correlated (p < 0.001) with risk of hypersensitivity. Frequent surgery and atopy were found to have an additional effect on the risk of hypersensitivity. Information about previous NRL-specific reactions obtained by questionnaire was of little predictive value when performing multivariate analysis. For children at high risk for hypersensitivity to NRL preoperative evaluation and, in case of hypersensitivity, preventive measures seem to be advised.