Dynamics of microsatellite divergence under stepwise mutation and proportional slippage/point mutation models.

Recently Kruglyak, Durrett, Schug, and Aquadro showed that microsatellite equilibrium distributions can result from a balance between polymerase slippage and point mutations. Here, we introduce an elaboration of their model that keeps track of all parts of a perfect repeat and a simplification that ignores point mutations. We develop a detailed mathematical theory for these models that exhibits properties of microsatellite distributions, such as positive skewness of allele lengths, that are consistent with data but are inconsistent with the predictions of the stepwise mutation model.

[Word generation in bilinguals--fMRI study with implications for language and memory processes].

For over a century the cerebral representation of language functions is a matter of debate. In Neuroscience language is regarded as one of the most lateralized cognitive functions. Thus, while the language which is acquired first in most cases is processed by the left hemisphere some studies in brain damaged but also experimental investigations propose a pivotal role of the right hemisphere in second language processing.

Cardiorespiratory interactions during resistive load breathing.

The addition to the respiratory system of a resistive load results in breathing pattern changes and in negative intrathoracic pressure increases. The aim of this study was to use resistive load breathing as a stimulus to the cardiorespiratory interaction and to examine the extent of the changes in heart rate variability (HRV) and respiratory sinus arrhythmia (RSA) in relation to the breathing pattern changes. HRV and RSA were studied in seven healthy subjects where four resistive loads were applied in a random order during the breath and 8-min recording made in each condition.

High efficacy of paclitaxel and doxorubicin as first-line therapy in advanced breast cancer: a phase I-II study.

The aim of this study was to define the maximum tolerated dose (MTD) of paclitaxel (TAX) in combination with doxorubicin (ADM). To evaluate the efficacy and tolerability of this combination, TAX was administered in escalating doses of 30 mg/m2, starting from 120 mg/m2, by 1 hour continuous infusion, per group of three patients; ADM was administered at a fixed dose of 50 mg/m2, 24 hours before administering TAX (phase 1). The combination was recycled every 3 weeks.

Postural breathing pattern changes in patients with myotonic dystrophy.

We recorded by pneumotachography the breathing in nine patients with myotonic dystrophy (MD), both seated and supine and with eyes open in both positions. Irregular breathing (coefficient of variation >20% for VT and TTOT) was observed in six of the patients, two of whom showed irregularity in both positions whilst the remaining four had irregular breathing only when supine. In addition, in this latter group, irregularities first appeared in VT and only after a few minutes in TTOT.

[Appendiceal oxyuriasis: a case report and review of the literature].

The authors describe a case of appendicular oxyuriasis and then go on to review the international literature on this condition. Nothing in the case report provides the surgeon with useful pointers which may help him distinguish between appendicular oxyuriasis and common appendicitis. This is in line with all the existing literature which yields no elements capable of suggesting an accurate preoperative diagnosis.

[Unusual cause of upper digestive hemorrhage: gastric lipoma. Report of a case].

Lipomas are benign tumors that are common in other sites but rare in the stomach. They are usually submucosal and, when symptomatic, are most often accompanied by gastrointestinal bleeding from ulceration of gastric mucosa overlying the mass or by symptoms of obstruction. A 55-year-old male with epigastric abdominal pain and upper gastrointestinal hemorrhage due to a gastric lipoma is presented; endoscopic and x-ray examinations revealed a submucosal tumor on the posterior wall of the gastric corpus, with ulceration in the mucosa covering it.

[CADASIL. Clinical aspects, neuroradiology, genetics and diagnosis].

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral vasculopathy progressing to subcortical dementia, caused by multiple lacunar infarcts and ischemic white matter degeneration. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. The causative mutations of the Notch3 gene are located on chromosome 19p13.

New statistical method for detection and quantification of respiratory sinus arrhythmia.

A statistical method with the advantages of 1) enabling graphical representation of within-respiratory cycle heart rate variations, 2) detecting the presence of respiratory sinus arrhythmia (RSA) in a moving window, and 3) providing breath-by-breath RSA amplitude and phase obtained from the fitting of a sinusoid to the instantaneous relative heart rate is presented.

Retrograde amnesia for world knowledge and preserved memory for autobiographic events. A case report.

A patient (PC) with severe and chronic retrograde amnesia for world knowledge (tested with famous events and famous faces), but unimpaired autobiographical memory is described. The 64-year-old man had traumatic brain injury four years prior to the present evaluation. Current brain imaging showed principally damage involving the infero-lateral prefrontal and the lateral temporal regions of the left-hemisphere.

Effects of resistive loading on the pattern of breathing.

In order to determine changes in breathing patterns brought about by resistive loading, ventilation was recorded in 11 healthy subjects with four linear resistances (3.57, 5.75, 8.

[Esophageal achalasia: etiopathogenesis and possibility of treatment. Review of the literature and presentation of a clinical case].

The Authors report a particular case and make a careful international literature regarding etiopathogenesis and surgical treatment of oesophageal achalasia. First they consider the infection mechanisms as the cause of underlying motor disturbances of the oesophagus. Afterwards holding as parameters of reference for the evaluation of effectiveness of the therapy both the relief of dysphagia and the appearance of postoperative RGE, the various surgical options are then examined: pneumatic dilatation as opposed to surgery; the approach to thoracic and abdominal surgery and the possible assembly of a reflux protection mechanism.

Overdrive atrial stimulation during transesophageal electrophysiological study: usefulness of post-pacing VA interval analysis in differentiating supraventricular tachycardias with 1:1 atrio-ventricular relationship.

We evaluated the feasibility and usefulness of overdrive atrial pacing to identify the relationship between atrial and ventricular activation in supraventricular tachycardias with a stable 1:1 atrio-ventricular (AV) conduction ratio during a transesophageal electrophysiological investigation. Overdrive atrial stimulation was performed in 42 consecutive patients (11 males and 31 females; mean age 49 +/- 17 years) during AV junctional reentrant tachycardia, orthodromic AV reentrant tachycardia and ectopic atrial tachycardia (22, 13 and seven subjects, respectively). Trains of 12 stimuli at a constant rate were introduced starting at a cycle length 10 ms shorter than the tachycardia cycle length; stimulation was repeated with a 10-ms decrement in pacing cycle length at each step until tachycardia terminated and/or second-degree AV block occurred.

Impaired episodic memory retrieval in a case of probable psychogenic amnesia.

A patient with severe, selective retrograde amnesia for personal material diagnosed as probable psychogenic amnesia, was investigated intensively neuropsychologically with cranial computed tomography (CCT), magnetic resonance imaging (MRI), and single photon emission tomography (SPECT). The patient was of average intelligence and memory with no anterograde amnesia. No evidence for structural brain damage was detected in CCT and MRI.

["Double nodal pathway" as a common electrogenic pathway at the base of first and second degree paroxysmal atrioventricular node and nodal reentrant tachycardia].

The combined occurrence of conduction disturbances and reentry in subjects with a dual atrioventricular nodal pathway is extremely rare and poorly documented, only by means of short electrocardiographic strips. This case report deals with a young woman with frequent episodes of paroxysmal first- and second-degree type I atrioventricular block due to a dual atrioventricular nodal pathway at Holter monitoring, and atrioventricular nodal reentrant tachycardia inducible at transesophageal electrophysiologic study. This case confirms that some paroxysmal first- and second-degree atrioventricular block and the atrioventricular nodal reentrant tachycardia may share the same electrogenetic substrate represented by a dual atrioventricular nodal pathway.

Right temporofrontal cortex as critical locus for the ecphory of old episodic memories.

A 54 year old patient of average intelligence with a severe and enduring loss of old autobiographical memories after herpes simplex type 1 infection is described. She was tested with a comprehensive neuropsychological battery two years after the infection. Special emphasis was laid on examining different aspects of retrograde memory.

Unusual resetting patterns in response to single atrial extrastimuli during AV junctional reentrant tachycardia.

Introduction: Two unusual resetting patterns were observed in two patients with slow-fast AV junctional reentrant tachycardia (AVJRT) submitted to an electrophysiologic study.

Methods And Results: After AVJRT induction, resetting was evaluated by introducing single extrastimuli at progressively shorter coupling intervals from the high right atrium (HRA) and the proximal coronary sinus (CS). An alteration in the return cycle length duration allowed demonstration of resetting.

Commonalities and discrepancies in the relationships between behavioural outcome and the results of neuroimaging in brain-damaged patients.

Variables which are of influence in establishing clear predictions of neuropsychological alterations from neuroradiological data (and vice versa) are documented and discussed. It is concluded that personality factors and the kind and locus of brain lesions are the most crucial determinants. The locus of the brain damage may have cumulative effects either when it is situated in a strategic place (usually within the white matter, affecting interneuronal communication) or when various types of lesions appear superimposed (combination of focal and diffuse lesions).

Radiation-induced heart disease.

The recent improvement in radiation techniques and the associated significant prolongation of survival have resulted in a widespread utilization of mediastinal irradiation in patients with various neoplasms. However, a large number of experimental and clinical studies have clearly demonstrated that high-dose therapeutic mediastinal irradiation can produce delayed, severe cardiovascular disease. This review presents the data from the Literature regarding the pathogenesis, pathology, prevalence and clinical manifestation of the radiation-related heart disease.

Fornix damage and memory. A case report.

The role of the fornix for episodic memory processing is still a matter of controversy. A juvenile patient of average post-surgical intelligence with fornical damage due to tumor removal is described. The fornix was damaged bilaterally at the level of the fornical columns.

[Neuropsychological aspects in idiopathic Parkinson disease].

Patients with Parkinson's disease can suffer from neuropsychological deficits which, in most cases, are already demonstrated at the very beginning (53). Primarily, they are characterized by impairments associated with frontal lobe function affecting psychomotor speed and mental flexibility. Furthermore they show circumscribed impairment of memory functions as well as deficits of visuospatial information processing.

Everyday memory impairment, neuroradiological findings and physical disability in multiple sclerosis.

Thirty-five multiple sclerosis (MS) patients diagnosed according to the Poser criteria were examined in a variety of cognition and memory tasks. Their performance was compared to age- and gender-matched healthy individuals. While there was no difference in overall intellectual performance and short-term memory between the MS group and control subjects, the patient group showed significant deficits in several everyday memory tasks including story recall, object and face recognition, procedural, topographical and prospective memory tasks.