PubMed Health⌕ Search

Biomedical subjects

C Franco Carcedo

Publications and source records attributed to C Franco Carcedo.

3 recordsLinked to original sources
PubMed1988

[Rett's syndrome: study of 15 cases].

A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.

Ammonia↗
PubMedDate not supplied

[Diagnosis of peripheral neuropathies: a clinical and neurophysiological study].

INTRODUCTION: The diagnosis of peripheral neuropathy is based on clinical and neurophysiological features. This study aims to establish the diagnostic validity of different symptoms and clinical signs, as well as its correlation with electroneurography (ENG), to determine its sensitivity (SE), specificity (SP), positive (PLR) and negative likelihood ratio (NLR) for every peripheral neuropathies type. PATIENTS AND METHODS: A sample of 108 patients with clinical suspicion of peripheral neuropathy (pain, paresthesias, loss of strength, areflexia) was studied. ENG (nerve conduction velocity and response amplitude values in 208 nerves [Median and Posterior Tibial]) was used to confirm the diagnosis, classifying the sample in axonal group (A), demyelinating (D) and normal (N). It was made descriptive statistics of this sample, studies of SE, SP, PLR and NLR of symptoms, and association (contingency tables [Chi square] and Odds Ratio) between symptoms and clinical features. RESULTS: The patients with paresthesias, loss of strength or pathologic reflexes have larger motor latency (p< 0.01). Those with paresthesias, areflexia or pain have fewer sensitive conduction velocity (p< 0.05). Symptoms's value for sensory damage's diagnosis is (SE= 0.92, SP= 0.48, PLR= 1.78, NLR= 0.14). For motor damage (SE= 0.72, SP= 0.68, PLR= 2.25, NLR= 0.41). For axonal damage (SE= 0.83, SP= 0.44, PLR= 1.49, NLR= 0.37). And for demyelinating damage (SE= 0.92, SP= 0.44, PLR= 1.66, NLR= 0.16). CONCLUSIONS: The symptoms's combination is much more sensitive and has fewer NLR than each isolated symptom in all neuropathic damage's types. Paresthesias's presence is more indicative of sensory damage and loss of strength of motor damage. Pain is the only symptom that can aim for axonal damage than demyelinating.

Cross-Sectional Studies↗