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Biomedical subjects

I Mongil Ruiz

Publications and source records attributed to I Mongil Ruiz.

9 recordsLinked to original sources
PubMed2002

[Periodic fever].

Periodic fever can be defined as recurrent episodes of fever lasting from a few days to several weeks separated by symptom-free intervals of variable duration, recurring throughout several months. Although these clinical pictures are unusual in clinical practice, in some instances the differential diagnosis with recurrent infections, malignancies and connective tissue diseases is difficult. The aim of this review is to group together these different clinical pictures, which are dispersed in the literature, to obtain an overall and detailed perspective.We classified these processes in two categories: hereditary (familial Mediterranean fever, hyper-IgD syndrome, tumor necrosis factor-receptor-associated periodic syndrome, Muckle-Wells syndrome and familial cold urticaria) and non-hereditary (periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA syndrome], cyclic neutropenia, chronic infantile neurological cutaneous and articular syndrome [CINCA syndrome], Castleman's disease, early onset sarcoidosis and Blau syndrome). Although diagnosis is essentially clinical, in recent years many advances have been made in the knowledge of the molecular and genetic bases of hereditary diseases, which may be of considerable help in establishing the diagnosis and improving treatment.

Castleman Disease↗
PubMed1990

[Homozygous familial hypercholesterolemia. Response to combined cholestyramine and lovastatin therapy].

Homozygous familiar hypercholesterolemia (FH) is a serious inherited disease caused by a genetic defect in the cell surface receptor that controls the degradation of low density lipoprotein (LDL). These patients often have myocardial infarction in their teens or early adulthood and are usually unresponsive to drugs. Recently it has been reported promising results using combined drugs regimens in patients with residual receptor activity. We report a new additional patient with receptor-defective homozygous FH treated with a combination of lovastatin and cholestyramine. The cholesterol levels were reduced in a 67% and there were adverse events related to treatment during a 7 month period of follow-up.

Child, Preschool↗
PubMedDate not supplied

[Program of hearing loss early detection in newborn infants in Cantabria. Results of the first year of activities].

AIMS: To report the findings in the first year of follow-up of the Cantabrian Program to screen newborn babies for congenital permanent hearing loss. METHODS: The study population consisted of infants born during a year period in Cantabria (Spain). Universal hearing screening by transient evoked otoacoustic emissions (TEOAE) in 2 stage protocol was performed. Infants with failure scores in these 2 stages and those with risk factors for hearing loss were referred for diagnostic evaluation with auditory brainstem response. Hearing aids were recommended for those infants who had bilateral hearing loss and referrals to infant speech and language rehabilitation. RESULTS: Out of the 4117 eligible babies, 3987 were studied. One hundred and ten (2.6) had risk factors for hearing loss, 3.5% were referred for audiological assessment and 1.2/1000 were diagnosed as having a permanent hearing loss. The false-positive rate was 0.72% after the two-stage screening procedure was performed. Positive predictive value for permanent hearing loss was 10%. CONCLUSIONS: During the first year working with the Cantabrian Screening Program for congenital permanent hearing loss in newborn babies, the most part of the proposed aims have been achieved.

Age Factors↗