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Biomedical subjects

I Cordeiro

Publications and source records attributed to I Cordeiro.

16 recordsLinked to original sources
PubMed2005

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we screened 682 dysmorphic/mentally retarded Portuguese patients for abnormal levels of 7-DHC in blood by UV spectrometry. We identified six unrelated patients with SLO (0.87% of total). Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X). The common IVS8-1G > C and T93M variants together with the H301R accounted for 70% of the all SLO alleles in our population. Our findings contribute to the variegate array of pathological changes in the DHCR7 gene among different European populations.

Child↗
PubMed2001

Biflavonoids from Ouratea multiflora.

A new flavone dimer, 3-hydroxy-4',5,7-trimethoxyflavone-(6-->8")-3"-hydroxy-3"',4"', 5",7"-tetramethoxyflavone, together with amenthoflavone, have been isolated from the leaves of Ouratea multiflora. Its structure was established by spectroscopic methods, including two-dimensional NMR spectroscopy.

Flavonoids↗
PubMed1999

Robinow syndrome in monozygotic twins with normal stature.

Robinow syndrome was found in two monozygotic twins. We describe the clinical and radiographic manifestations in these patients, both with normal stature and one with omphalocele, with a follow-up of 13 years. Families with Robinow syndrome of both autosomal dominant and recessive inheritance have been reported. We apply the criteria suggested to assign isolated cases to one of the two forms and conclude that autosomal dominant inheritance is more likely.

Abnormalities, Multiple↗
PubMed1998

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF

Abnormalities, Multiple↗
PubMed1998

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening strategy, 67 NF1 families (54 two-generation, 13 three-generation) with a de novo mutation in the germline of the first generation were studied with two extragenic and 11 intragenic markers. The pathological lesion was identified in 31 cases. Loss of heterozygosity (LOH) in the affected individual revealed a gross gene deletion in 15 of the two-generation families; in 12 (80%) of them, the deletion was maternally derived. Eleven patients with a gross deletion exhibited developmental delay, ten had dysmorphic features and six manifested a learning disability. No gross deletion was apparent in any of the 13 three-generation families, suggesting that such lesions are subject to more intense selection. In these families, the new mutation was of paternal origin in 11 kindreds and the underlying mutational event could be characterised in three of them.

Adolescent↗
PubMed1995

Pituitary down-regulation in IVF cycles: is it necessary to use strict criteria?

PURPOSE: In a retrospective study we have reviewed the data of 570 consecutive IVF cycles in which a GnRH agonist (GnRHa) was started in the early follicular phase (long protocol). Cycles were divided in groups according to estradiol levels before HMG administration: A, < 20 pg/ml; B, 20 to 50 pg/ml; C, 51 to 100 pg/ml. Our objective was to determine if the degree of pituitary suppression had any effect on the ovarian response to stimulation by exogenous gonadotropins, and/or on the IVF outcome. RESULTS: There were no significant differences in cycle cancellation rates, no. of days of stimulation and ampoules of HMG, serum estradiol after HMG, no. of oocytes retrieved and fertilization rates between groups. Pregnancy rates (19.4%, 21% and 31.8%/cycle, and 24.1%, 27.5% and 37.8% / embryo transfer, respectively) and live-birth rates (16.2%, 16.1% and 25.0%/cycle, 20.1%, 21.2% and 29.7%/embryo transfer, respectively) were also not significantly different. CONCLUSIONS: The degree of pituitary suppression had no effects on either the ovarian response to gonadotropins (including HMG requirements) or the overall IVF results.

Adult↗
PubMed1995

[The effect of the woman's age, the rate of cleavage and embryo quality on obtaining a pregnancy by in-vitro fertilization].

Multiple factors influence the probability of obtaining a pregnancy through in vitro fertilization (IVF) and embryo transfer (ET). This retrospective study was designed to assess their importance in order to improve prognostic ability and treatment success. 341 consecutive embryo transfer cycles using the same ovarian stimulation protocol were considered and divided in two main groups: 92 cycles in which a clinical pregnancy was achieved and 249 cycles without success. All the embryo transfers were performed in patients from the in vitro fertilization program of the Human Reproductive Unit, Santa Maria Hospital, Lisbon, between January 1991 and December 1993. No significant differences were found between the two groups studied concerning the IVF indications, ovarian response to the stimulation, sperm quality, oocyte maturation and mean number of oocytes retrieved per patient. The women's age was higher in the group which did not achieve a pregnancy, when compared with the pregnant group (p < 0.001), showing a decline of success after the age of 35. Overall oocyte fertilization rate was 88.2% in cycles with pregnancy and 83.5% in cycles without pregnancy (p < 0.02). In the pregnant patients, there was a significantly higher rate of embryo transfers in which all the embryos received had reached at least the four-cell stage at 42-43 hr postinsemination, compared with the non pregnant patients (82% versus 63%, p < 0.001). All the 92 pregnancies originated from transfers of at least one embryo that had undergone two or more mitotic divisions.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.

The Schinzel-Giedion is an autosomal recessive syndrome characterized by midface retraction, hypertrichosis, multiple skeletal anomalies, cardiac and renal malformations and mental retardation. We describe a female child with this syndrome and a clinical status complicated by hypernatremic dehydration, hypothyroidism and diabetes insipidus at the age of 10 months.

Abnormalities, Multiple↗
PubMed1993

Fractured zona oocytes in in-vitro fertilization cycles stimulated with gonadotrophin-releasing hormone analogue and human menopausal gonadotrophin.

In order to assess the possible influence of gonadotrophin-releasing hormone analogue and human menopausal gonadotrophin on the occurrence of fractured zona oocytes (FZOs) in in-vitro fertilization (IVF) treatment cycles, we analysed 267 consecutive cycles in 199 patients. In 87 cycles, at least one fractured zona oocyte was recovered, and in 180 cycles only intact zona oocytes (IZOs) were recovered. FZOs represented 5.8% of all oocytes retrieved and 14.8% when only cycles with FZOs were considered. Serum oestradiol concentrations were significantly higher at day -3 and day -2 (P < 0.02) in cycles yielding at least one fractured zona oocyte compared to IZO cycles (day 0 = retrieval day), and there was a higher incidence of G terminal pattern of oestradiol curve (P < 0.01) in cycles with FZOs. The mean numbers of all oocytes retrieved and of mature oocytes were significantly higher in FZO than in IZO cycles (P < 0.001). The fertilization rate of mature oocytes was significantly reduced (P < 0.05) in cycles with one or more oocytes with fractured zonae. There was no significant difference in the number of embryos transferred, pregnancy and abortion rates in both groups. We conclude that although the occurrence of fractured zona oocytes is a frequent event, it does not affect the overall results of our IVF programme. Zona pellucida fragility may be the result of over-maturation of some oocytes.

Adult↗
PubMed1990

Rapp-Hodgkin ectodermal dysplasia.

A rare case of ectodermal dysplasia--the Rapp-Hodgkin syndrome--is presented. Its diagnosis is discussed and the importance of a multidisciplinary management and genetic counselling outlined.

Child, Preschool↗
PubMedDate not supplied

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

UNLABELLED: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. CONCLUSION: Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

Adolescent↗