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C Roig

Publications and source records attributed to C Roig.

At least 19 recordsLinked to original sources
PubMed2003

Integration of a barley (Hordeum vulgare) molecular linkage map with the position of genetic loci hosting 29 developmental mutants.

The first step in positional gene cloning is the integration into available molecular maps of genetic loci for which mutant alleles exist. We report the placement of 29 barley developmental mutants on a restriction fragment length polymorphism-amplified fragment length polymorphism (RFLP-AFLP) map. The mapping procedure used homozygous mutant F(2) plants in an iterative process: once a mutant linked AFLP was found, primer combinations were successively selected to generate AFLP fragments more tightly linked to the mutant locus. The mutants considered were adp, als, aur-a1, aur-a2, br1, br2, bra-d7, cul3, cul5, cul15, cul16, den6, den8, dub1, hex-v3, hex-v4, int-c5, K, li, lig-a2, lk2, lk5, sld1, sld4, tr, trd, unc, uc2 and uz. The 29 mutant loci were linked to the closest molecular markers by distances ranging from 0 to 23 cM, with an average value of 3.8 cM away. Since the efficiency of the mapping procedure is a function of the density of molecular markers, the RFLP-AFLP map of Castiglioni et al was further integrated with new AFLPs using 87 doubled haploid lines derived from the barley cross Igri x Danilo. A total of 819 mapped AFLP marker loci are now available in the combined map.

Chromosome Mapping↗
PubMed2002

[Satisfaction and recovery of normal activity with rizatriptan 10 mg. Results from the open, prospective, observational 4M study].

BACKGROUND: To evaluate the impact of the treatment with rizatriptan 10 mg (Maxalt) on the return to normal activity and satisfaction with treatment in the general population with migraine. PATIENTS AND METHOD: We conducted an open, prospective study in patients with migraine (International Headache Society [IHS] criteria) who were followed for up to 3 migraine attacks. We measured the degree of functional disability at 0 and 2 hours after treatment, and satisfaction at 24 hours. Other domains of satisfaction were evaluated after three migraine attacks. The relationship between baseline pain severity, satisfaction after 24 hours and functional disability was analyzed. RESULTS: 2,469 patients were enrolled who experienced 6,323 migraine attacks. A return to normal activity was achieved two hours after treatment in 67% of all attacks treated with rizatriptan 10 mg. The percentage of attacks causing severe functional disability decreased from 39% before therapy to 3.6% two hours after treatment. In more than 90% of moderate or severe attacks, a normal or slightly impaired functional capacity was restored two hours after treatment. In 76.3% of the attacks the patients were fully or very satisfied 24 hours after treatment with rizatriptan 10 mg. After treating three migraine attacks, the proportion of patients fully or very satisfied with rizatriptan was over 79% for all the domains explored. CONCLUSIONS: The patients were highly satisfied after 24 hours and following three migraine attacks treated with rizatriptan 10 mg. In more than two-thirds of the attacks treated with rizatriptan 10 mg, the patients returned to normal activity two hours after treatment.

Adult↗
PubMed2001

[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].

BACKGROUND: To study the presence of anti-GQ1b antibodies as a tool for the diagnosis of Miller-Fisher syndrome (MFS). PATIENTS AND METHOD: We studied 54 patients with probable diagnosis of MFS and 10 patients diagnosed as Guillain-Barré syndrome plus ophthalmoplegia (1 case), Bickerstaff's encephalitis (1 case), relapsing ophthalmoplegia (7 cases) and relapsing diplopia (1 case). Results were compared with 130 patients with other disimmune neuropathies. Antibodies were detected by ELISA and checked by thin layer chromatography. Campylobacter jejuni serology was studied using a complement fixation test. RESULTS: Diagnosis of MFS was confirmed in 38 patients. A 97.3% were positive for GQ1b, being all negative for Campylobacter jejuni serology. A second test after 4-5 weeks of nadir was negative in 84.2% (16/19), concomitant with clinical recovery. CONCLUSIONS: Anti-GQ1b antibodies are useful markers for the differential diagnosis of MFS, specially with some acute brainstem disorders. Testing must be performed during the first four weeks of clinical course. This correlation between the triad ataxia, arreflexia and ophthalmoplegia and anti-GQ1b antibodies confirms that they are highly specific of MFS.

Antibodies↗
PubMed1999

Epidermal nevi and localized cranial defects.

We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.

Female↗
PubMed1999

Value of clinical, functional, and oximetric data for the prediction of obstructive sleep apnea in obese patients.

OBJECTIVE: To evaluate the diagnostic value of clinical features, pulmonary function testing, blood gas tensions, and oximetric data for case finding of obstructive sleep apnea (OSA) before polysomnography (PSG) in a series of consecutive overweight patients. METHODS: We studied a population of 102 consecutive patients referred by an obesity clinic for suspected OSA, in whom body mass index was > or = 25 kg/m(2). The following tests were performed: clinical score (CS), pulmonary function tests (PFTs), measurement of arterial blood gas tensions, nocturnal oximetry, and full-night PSG. RESULTS: Six of 34 women and 34 of 68 men had OSA, defined by an apnea-hypopnea index > or = 15. CS and the cumulative time spent below 80% arterial oxygen saturation (SaO(2)) were higher, and PaO(2), minimal SaO(2), and mean nocturnal SaO(2) (mSaO(2)) were lower in OSA patients than in non-OSA patients. Logistic regression showed that sex, CS, and the ratio of FEV(1) over forced expiratory volume in 0.5 s (an index of upper airway obstruction on flow-volume curves) and mSaO(2), expressed as categorical variables, were independent predictors of OSA. None of these individual variables had a satisfactory diagnostic value for the diagnosis of OSA. A logistic regression model including sex and all continuous variables would have allowed us to predict the presence or absence of OSA confidently in 72.5% of the population, in whom the positive predictive value of the model was 94% and the negative predictive value was 90%. CONCLUSION: In obese patients referred to a respiratory sleep laboratory and evaluated by CS, PFTs, arterial blood gases, and oximetry, no individual sign or symptom may accurately predict the presence or absence of OSA. Provided that it is validated in prospective studies, a logistic regression model using these variables may be useful for the prediction of OSA.

Adult↗
PubMed1999

[Evaluation of the polymerase chain reaction technique for the diagnosis of meningitis caused by Neisseria meningitidis and Haemophilus influenzae].

BACKGROUND: Bacterial meningitis is a severe infection of the central nervous system (CNS), most frequently caused by Neisseria meningitidis in our setting. Microbiologic diagnosis of bacterial meningitis is not enough sensitive because its efficiency can be affected by the therapeutic regimen given to the patient. Polymerase chain reaction (PCR) can provide a more sensitive diagnosis and allow us to get an earlier result. OBJECTIVES: To assess the sensitivity and specificity of a PCR technique for the diagnosis of meningitis caused by N. meningitidis and Haemophilus influenzae. MATERIAL AND METHODS: Ninety-six patients who were attended because of suspected bacterial meningitis on the Hospital de Sant Joan de Déu, Corporació Sanitària Parc Taulí and Hospital de la Santa Creu i Sant Pau, and had negative results by conventional laboratory methods, were selected for the study. A total of 99 cerebrospinal fluid samples (CSF) were obtained and evaluated for PCR. DNA extracts of the CSF samples were amplified by universal primers. Amplification products were hybridized with specific probes for Haemophilus genus and N. meningitidis. Positive and negative controls were included to asses the reliability of PCR. RESULTS: Eight of the 99 CSF samples (8%) were positive by PCR and subsequent hybridization with the specific probe of N. meningitidis. None of the amplicons hybridized with the probe of Haemophilus genus. Thirteen percent of the patients (8/59) with clinical suspicious of non-neonatal sepsis or meningitis were diagnosed by PCR, amongst them, 36% of the cases (4/11) with initial diagnosis of meningococcal sepsis or meningitis. CONCLUSIONS: The sensitivity and the specificity of the PCR technique afford a complementary method to conventional ones, in special for the diagnosis of meningococcal meningitis in the group of pediatric patients.

Child↗
PubMed1999

[Peritoneal fistulization in pleural aspergillosis associated with skin lesions].

This report describes the development of a pleuroperitoneal fistula complicating pleural aspergillosis in a 63-year old non-immunocompromised man treated with itraconazole. The patient presented a confluent granuloma of the abdomen while an abscess of the abdominal wall was disclosed. Skin involvement, usually described in disseminated aspergillosis, has not been reported in pleuropulmonary aspergillosis.

Abdominal Muscles↗
PubMed1998

The distinctive headache of the occipital condyle syndrome: a report of four cases.

Four examples of occipital condyle syndrome, that is, unilateral occipital pain and ipsilateral tongue paralysis due to selective erosion of the occipital condyle, are reported. The four patients complained of a continuous, severe, unilateral, occipital pain which kept them with the head rotated to the side of the pain and held with their hands. The pain became unbearable with head rotation to the nonpainful side and with unilateral suboccipital palpation. The onset of this very characteristic unilateral headache antedated by as long as 2 1/2 months the ipsilateral hypoglossal paralysis. The occipital condyle syndrome may be the first manifestation of cancer or of chronic inflammatory lesions; recognition of this distinctive headache enables the clinical diagnosis to be made.

Aged↗
PubMed1997

[Fragile X syndrome and mental retardation].

INTRODUCTION: Fragile-X syndrome is characterized by the presence of a fragile site (gap) on Xq 27.3 and the transcriptional inhibition of a mRNA protein-binding gene called FMR-1. Neuropsychological features include cognitive impairment, attention deficit disorder with and without hyperactivity, and impairment of visuospatial functions, language and frontal executive functions. In the present paper, other cytogenetic and phenotype characteristics, associate disorders, neurological and neuroimaging studies are revised. CLINICAL CASES: We describe two siblings that illustrate the pattern of neurocognitive and behavioural trends of the Fragile X syndrome, and sex differences. DISCUSSION AND CONCLUSIONS: These two cases emphasize the need for performing a cytogenetic diagnostic in patients with mental retardation, of unknown etiology, and with a familiar history of mental retardation.

Adult↗
PubMed1997

[Ophthalmoplegic and retinal migraines].

The incidence, pathophysiology, symptoms, differential diagnosis and treatment of ophthalmoplegic and retinal migraines are reviewed. We describe three cases: one recurrent, painful ophthalmoplegia alternating between the III and VI nerves, one recurrent migraine associated with internal ophthalmoplegia, and one migraine with visual aura and retinal infarction. In our review we emphasize their infrequency (ophthalmoplegic migraine, 0.7 per million; retinal migraine 0.5-7% of migraines with aura), their uncertain pathophysiology and the possibility of causing permanent oculomotor or visual deficits. Differential diagnoses, including all causes of painful ophthalmoplegia and amaurosis fugax are discussed, with special attention to the difficulty of differentiating Tolosa-Hunt syndrome and forms without headache.

Adolescent↗
PubMed1996

Abnormal, ubiquitinated cortical neurites in patients with diffuse Lewy body disease.

Although it is known that the severity of dementia in patients with diffuse Lewy body disease is related to cortical Lewy body density, the morphological substrate of dementia in these patients is poorly understood. Vibratome sections processed free-floating for ubiquitin immunohistochemistry in three patients with the common form and one patient with the pure form has shown the presence of large numbers of abnormal, ubiquitinated neurites in the cerebral cortex, mainly cingulate cortex, entorhinal cortex and temporal lobe, and hippocampal complex, regions in which, precisely, Lewy bodies are most abundant. Abnormal neurites are a consistent change which results in abnormal neuronal connectivity. Abnormal cortical neurites, rather than cortical Lewy bodies, may play a significant role in the development and progression of cognitive deficits in patients with diffuse Lewy body disease.

Adult↗