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Biomedical subjects

L Lazaro

Publications and source records attributed to L Lazaro.

14 recordsLinked to original sources
PubMed2006

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction. The main clinical features are severe dwarfism (<-2 SD), microcephaly (<-3 SD), psychomotor delay, sensorial loss (cataracts, pigmentary retinopathy, and deafness), and cutaneous photosensitivity. Here, 13 new cases of Cockayne syndrome are reported, which have been clinically diagnosed and confirmed using a biochemical transcription assay. The wide clinical variability, ranging from prenatal features to normal psychomotor development, is emphasised. When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with growth retardation, microcephaly, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.

Abnormalities, Multiple↗
PubMed2001

Adolescent anorexia nervosa: the catch-up effect in bone mineral density after recovery.

OBJECTIVE: To determine whether bone mineral density (BMD) loss can be reversed in adolescent anorexic patients. METHOD: A prospective study with 108 anorexia nervosa patients (DSM-IV) from 12 to 17 years of age at the Eating Disorders Unit in the Hospital Clinic of Barcelona (Spain). They were first evaluated by dual-energy x-ray absorptiometry in lumbar spine and femoral neck consecutively from 1997 until 1999 and reexamined after 6 to 30 months. Results were compared with normative values of bone mass. RESULTS: Patients with poor outcome (n = 44) had a bone mass loss. Patients with good short-term outcome were divided in two groups. The group with normal BMD at first evaluation (n = 41) had a bone mass gain per year of 3.0% at lumbar spine and 0.5% at femoral neck. The group with low BMD at first evaluation (n = 23) had an increase per year of 9.1% at lumbar spine and 4.5% at femoral neck. In a multiple linear regression analysis with the variables body mass index, age, months with menstruation, and BMD zscore at first evaluation, the only predictor of BMD increase was the first z score both at the lumbar spine (coefficient R = 0.64; p < .001) and at the femoral neck (coefficient R = 0.5; p < .001). CONCLUSIONS: There is a catch-up effect in adolescent patients with low BMD but good short-term outcome.

Adolescent↗
PubMed2000

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, SIX3, which is considered to be the functional orthologue of Drosophila genes sine oculis (so) and optix, has been found to be mutated in the homeodomain, in some patients with HPE (HPE2 on chromosome 2p21). We report a new HPE family, presenting a wide spectrum of clinical features, ranging from cyclopia to hypotelorism, in which a mutation was found for the first time in the SIX domain of SIX3: a GG insertion creates a frameshift leading to a nonsense mutation downstream in the homeodomain region.

Chromosomes, Human, Pair 2↗
PubMed1999

First-trimester transcervical chorionic villus sampling by biopsy forceps versus mid-trimester amniocentesis: a randomized controlled trial project.

Up to now, no data are available comparing amniocentesis and chorionic villus sampling (CVS) using biopsy forceps. A series of 1313 consecutive women referred to our unit before 12 weeks of pregnancy for fetal cytogenetic analysis because of advanced maternal age, were randomized into CVS with the use of transcervical biopsy forceps or mid-trimester amniocentesis. The diagnostic success rates of the two groups were 98 per cent and 100 per cent, and a second procedure was needed in 4.1 per cent (13/314) and in 0. 3 per cent (1/358), respectively. Follow-up was achieved in 98.7 per cent of the pregnancies. Postprocedure spontaneous fetal losses, until the first week after birth, in the 672 pregnancies that completed the trial accounted for 2.2 per cent (7/314) in the CVS group and 2.8 per cent (10/358) in the amniocentesis group. Although the trial was prematurely discontinued, and therefore the sample size was smaller than initially planned, the results indicate that transcervical CVS was as safe as mid-trimester amniocentesis.

Adult↗
PubMed1994

Low back pain: how to make the diagnosis in the older patient.

Low back pain is a common complaint in primary care practice, particularly among older patients. The office-based workup starts with a careful history aimed at determining the onset, location, and severity of pain. A physical examination includes attention to gait, palpation, and some simple neurologic tests. Most patients require plain x-rays. Bone scans are useful for identifying suspected tumors and infections; CT and MRI are indicated in specific cases. Although the origin of most low back pain is indeterminate, the workup may uncover some important causes in older adults, including lumbar spinal stenosis, osteoporotic vertebral fractures, and metastatic disease to the spine.

Age Factors↗
PubMed1977

Ulnar nerve instability: ulnar nerve injury due to elbow flexion.

The term "ulnar nerve instability" describes the chronic conditions of subluxation and relocation of the ulnar nerve at the elbow with flexion and extension of the elbow, respectively. This condition is more common than generally thought. Recurrent subluxation of the nerve at the elbow results in a tractional and frictional neuritis. The nerve is vulnerable to trauma in its subluxed position, lying superficially on the medial humeral epicondyle. In certain cases of ulnar nerve instability associated with a tight overlying band bridging the heads of origin of the flexor carpi ulnaris, nerve injury can occur with flexion of the elbow. Thus, internal as well as external compressive factors as a cause of ulnar nerve neuropathy must be considered. Described is an elbow flexion test helpful in the diagnosis and prognosis of cases of ulnar nerve instability associated with the tight overlying band.

Adolescent↗
PubMed1975

Sensitivity of bhk-21 cells supplemented with diethylaminoethyl-dextran for detection of street rabies virus in saliva samples.

A tissue culture system for detecting rabies virus from saliva samples of suspected animals was developed and compared to suckling mouse inoculation. Swab samples were obtained from the mouth of the animal heads received for rabies diagnosis; these swabs were submerged in maintenance medium. The maintenance medium was inoculated intracerebrally into suckling mice and onto BHK-21 cells with diethylaminoethyl (DEAE)-dextran (BHK/DEAE) and without (BHK). Rabies immunofluorescence was performed on the brain of the mice dying during the observation period and also on both tissue culture systems every day after infection. The BHK-DEAE system detected 28 positive samples obtained from 48 rabid animals and the BHK system detected 18. By suckling mouse inoculation only 11 of the same positive samples were detected. A total of 90 samples was studied by the three methods. Rabies virus was detected by the tissue culture methods earlier than by suckling mouse inoculation. The BHK-DEAE method was an economic and fast method for rabies virus detection in saliva samples, which could be used for ecological and pathogenesis studies, as well for rabies diagnosis before the death of the suspected animal.

Animal Diseases↗
PubMed1975

Presence of rabies neutralizing antibodies in wild carnivores following an outbreak of bovine rabies.

In an outbreak of bovine rabies in Argentina, a study was made of vampire bats (Desmodus rotundus) and wild carnivores. Rabies antibody rates of high prevalence were found in the bats, foxes (Dusicyon gymnocercus) and skunks (Conepatus chinga). The outbreak was part of an extensive continuing epizootic of vampire transmitted bovine rabies which may have also involved other vectors in the area of this study. Consumption of dead and dying bats by the carnivores is the suggested means of passage of rabies virus from vampire bats to foxes and skunks. Given optimum conditions it is conceivable that some outbreaks in carnivores may begin in this way.

Animals↗
PubMedDate not supplied

[Genetic study of holoprosencephaly].

Holoprosencephaly (1/16,000 live births; 1/250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricule and cyclopia to clinically unaffected carriers in familial dominant autosomic holoprosencephaly. The disease is genetically heterogeneous but additional environmental agents also contribute to the aetiology of holoprosencephaly. In our cohort of 143 patients, 28 heterozygous mutations were identified: 15 in the Sonic hedgehog gene (SHH), 6 in ZIC2, 5 in SIX3, and 2 in TGIF. Functional tests have been set up to validate the significance of SHH amino acids replacements. Novel phenotypes associated with a mutation have been described such as abnormalities of the pituitary gland and corpus callosum, colobomatous microphthalmia, choanal aperture stenosis and isolated cleft lip. This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in holoprosencephalic families, and the absence of evident genotype-phenotype correlations.

Cohort Studies↗