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G de Blas

Publications and source records attributed to G de Blas.

15 recordsLinked to original sources
PubMed2002

Event-related evoked potential P300 in frontotemporal dementia.

There are no studies on event-related cognitive potentials in frontotemporal dementia (FTD). In order to evaluate the aptitude and usefulness of the event-related P300 potential in this disease, we prospectively examined 60 cases: 11 patients with FTD diagnosed according to the Lund and Manchester criteria and Neary consensus criteria, 33 patients with a probable Alzheimer's disease diagnosis following NINCDS-ADRDA criteria, and 16 normal controls. P300 latency, amplitude and reaction time were recorded using an auditory oddball paradigm. In this sample, P300 potential could be reliably performed by 10/11 FTD patients, notwithstanding their language or executive function deficiencies. The FTD group P300 mean latency was midway between the normal controls and the Alzheimer's disease group (ANOVA F(2, 74199) = 16.5; p = 0.00003). The latency range of the FTD patients were within normal values (average plus 1.96 standard deviation of the values of the control group), except for one case with a latency of 448 ms. Post hoc Newman-Keuls analysis showed that the P300 latencies of the control and FTD groups did not differ significantly (p = 0.15) and that the Alzheimer's disease group had a delayed P300 latency that differed significantly from that of the FTD (p = 0.002) and control group (p = 0.0002). However, there was overlapping in P300 latency values of the three groups. Despite these differences in latencies, the reaction time was significantly increased in the FTD and the Alzheimer's disease groups. These findings indicate that the P300 potential is less affected in patients with FTD than those with Alzheimer's disease. This fact could aid in FTD diagnosis, differential diagnosis with Alzheimer's disease and possibly its clinical management.

Aged↗
PubMed2000

Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy.

UNLABELLED: In children, anal abnormalities due to various causes may be confused with sexual abuse. We present the case of a child in whom the suspicion of abuse due to anal dilatation led to the previously unknown diagnosis of myotonic dystrophy. Myopathic involvement of the perianal musculature is a known feature of congenital myotonic dystrophy that usually appears in late childhood or adolescence. CONCLUSION: We stress the importance of considering an underlying myopathic condition in the differential diagnosis of anal laxity. Further studies, such as anal ultrasonography, may help when the diagnosis of abuse is not clear.

Child↗
PubMed2000

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.

We report the clinical features of, and the molecular study performed on, a Spanish family with essential tremor (ET), late onset epilepsy and autosomal dominant hypokalemic periodic paralysis (hypoPP). The presence of hypoPP in this kindred suggested an ion channel as a candidate gene for ET. Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred.

Adult↗
PubMed1998

Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are scarce, and usually come from isolated case reports or tables. The Tyr77 mutation is not as well characterized as the Met30 mutation, especially with respect to such aspects as prognosis or possible treatment by liver transplantation. We therefore present the clinical and pathological features of an extensive family with the Tyr77 TTR mutation, comprising 12 affected individuals over four generations. Six living individuals were followed over a 10-year period. Retrospective data were obtained with regard to the deceased family members. We found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the 6th and 7th decades, characterizes the Tyr77 mutation. In most cases this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsortion. Although survival is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment has developed.

Aged↗
PubMed1995

[Demyelinating polyradiculitis in neuro borreliosis].

Demyelinating neuropathy is considered a rare complication of Lyme borreliosis. We report a case of meningoradiculitis due to Borrelia burgdorferi in which the neurophysiological analysis showed evidence of restricted demyelinating involvement of the nerve roots and plexus, with no peripheral involvement or signs of distal axonal lesions. Lyme disease, therefore, can in fact be associated with demyelinating polyradiculitis with no peripheral nerve damage.

Aged↗
PubMed1992

Total fecal incontinence--a new method of gluteus maximus transposition: preliminary results and report of previous experience with similar procedures.

Since 1986, different procedures of gluteus maximus transposition have been performed, by one of the authors, in 10 patients with total anal incontinence not amenable to sphincter repair, due to congenital anomalies (four), sphincteric denervation (three) or after severe trauma (three). Variable degrees of long-lasting fecal control were obtained in all but one patient, with great improvement in six. Difficulties for achieving a closed anus without muscular tension of the neosphincter, together with the morbidity associated with anal wound infection, determined the reasons for the successive use of different techniques (Biström, Hentz, Schoamaker) until the authors, in 1990, designed a new procedure (Devesa). Although the reported experience with this technique described here is limited to only four patients, our impression is that the method is easier, has less morbidity, and achieves better short-term functional results, derived from a thick, tension-free neosphincter.

Adolescent↗
PubMedDate not supplied

[Automatic methods of measurement of motor potential units].

INTRODUCTION: The study of motor unit potentials (MUP) may be carried out using qualitative or quantitative methods. The considerable usefulness of quantitative methods in the diagnosis of neuromuscular disorders has led to development of new automatic techniques which permit greater speed and accuracy of clinical investigation. In this review we consider traditional electromyographic techniques and describe some automatic methods. DEVELOPMENT: Qualitative techniques are simpler but give limited information since they only permit recording of very marked alterations. The introduction of trigger and averaging permit quantitative analysis and thus the evaluation of less obvious changes. Although they do not identify all the potentials of an electromyographic signal, the new automatic techniques using partial decomposition avoid the loss of time occurring with earlier techniques, give reliable objective measurements of the MUP and also the possibility of measuring new parameters, such as the area or frequency of discharge. CONCLUSIONS: New methods of evaluation of the MUP have significant advantages over traditional methods, namely increased speed and objectivity. However, this makes it necessary to redefine normal values since different methods are used for obtaining and processing the signals, otherwise the results may not be strictly comparable.

Electromyography↗