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Biomedical subjects

J M Costa

Publications and source records attributed to J M Costa.

At least 19 recordsLinked to original sources
PubMed2003

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. We report mutation analysis in a cohort of 12 patients. Twelve mutations were identified of which 9 have not been reported so far (G28C, D32N, R178Q, P230R, D231H, 179delG, 802delG, 69-70insTGTGC, and 609-1g>a). Altogether, including our results, 22 mutations of the CAC gene have been published to date in 23 patients demonstrating the allelic heterogeneity of CAC deficiency. DNA-based prenatal diagnosis was performed for the first time in pregnancies at risk for CAC deficiency. Two fetuses were affected and one pregnancy was terminated by family decision. Two other fetuses had normal genotype and five others were heterozygotes. All the offspring of these seven pregnancies are alive and apparently healthy.

Amniotic Fluid↗
PubMed2003

[Growing skull fracture in childhood. Presentation of 12 cases].

Growing skull fractures (GSF) are rare complications of head injury (HI) in childhood. This entity consists of a skull fracture with an underlying dural tear that courses with a progressive enlargement of the fracture to produce a cranial defect. The pathophysiology and some aspects of its management are still controversial. In this review we present 12 patients diagnosedd and treated for a GSF at our institution between 1980 and 2002. 11 patients were under the age of 3 years and one patient was 5 years old at the moment of HI. The most common cause of injury was a fall from height. In the initial plain x-rayfilms, 11 patients showed a diastatic skull fracture and one patient only had a linear fracture. At this time, CT scan showed cortical contussion underlying the fracture in every case. The mean time between injury and presentation of GSF was 11.6 weeks. Diagnosis was made by palpation of the cranial defect and confirmed with skull x-rayfilms. The most frecuent location of GSF was in the parietal region. Associated lesions like hydrocephalus, encephalomalacia, lepto-menigeal cysts, brain tissue herniation and ipsilateral ventricular dilatation, were found in the preoperative CT or MRI. All patients underwent a dural repair with pericranium or fascia lata. The cranial defect was covered with local calvarial bone fragments in every case. Only one patient needed a cranioplasty with titanium mesh. Every child with a skull fracture must be followed until the fracture heals. Patients under the age of 3 years with a diastatic fracture and a dural tear, demostrated by TC or MRI, are more prone to develop GSF. In these cases, early repair must be adviced in order to prevent progressive brain damage.

Child, Preschool↗
PubMed2002

[Unusual abdominal complication of ventriculoperitoneal shunt].

The most common complications after CSF shunting to treat hydrocephalus are shunt infection and obstruction. Although ventriculoperitoneal (VP) diversion of the CSF using artificial shunt devices is an accepted method for the management of hydrocephalus, high rates of various complications have been reported, ranging from 24% to 47%. Among these, abdominal complications account for approximately 25%. The incidence of bowel perforation by shunt-catheter is known to be as low as 0.1-0.7%. We describe a case of migration af a peritoneal catheter through a congenital hernia of Morgagni.

Child↗
PubMed2002

[First trimester fetal sex determination in maternal serum using real-time PCR].

OBJECTIVE: Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analyzing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date, show lack of sensitivity, especially in the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis can not replace caryotype analysis following chorionic villus sampling. PATIENTS AND METHODS: A new highly sensitive real-time PCR was developed to detect a SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during their first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 61 had at least one previous male-bearing pregnancy. Results were compared to fetal sex. RESULTS: SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus No false negative results were observed. Furthermore, no false positive results results occurred although 27 women carried female fetus during the current pregnancy, had at least one previous male-bearing pregnancy. DISCUSSION AND CONCLUSION: This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women carriers of an X-linked genetic disorder. Prenatal diagnosis is thus performed for male fetuses only, avoiding invasive procedures and the risk of fetal loss for female fetuses.

DNA↗
PubMed2001

Prenatal diagnosis of congenital toxoplasmosis by duplex real-time PCR using fluorescence resonance energy transfer hybridization probes.

The diagnosis of congenital toxoplasmosis frequently relies on PCR tests of amniotic fluid (AF). A duplex real-time quantitative PCR test based on fluorescence resonance energy transfer was developed to quantify the parasite load and to decrease the risk of contamination. An internal control based on the detection of 10 pg mouse DNA added to the AF was included to check for PCR efficiency. The relationship between the parasite load and the occurrence of ultrasonographic abnormalities in 87 samples of AF was analyzed. Seven AF (8%) had a parasitic load > 10(3); 14 (16%) had > 10(2)-< or =10(3); 26 (30%) had > 10-< or = 10(2); and 40 (46%) had < or = 10 parasites/ml. Four of the six AF with cerebral ventriculomegaly had >10(3) parasites/ml. The other two had 130 and 24 parasites/ml, respectively. No parasitic loads of > 10(3) parasites/ml and no ultrasonographic abnormalities were observed in the 11 AF with maternal toxoplasmosis in the third trimester. Therefore, there is a trend to associate high parasite count with ultrasonographic abnormality, but the main concern remains early maternal infection. The importance of quantification should be better evaluated with postnatal studies. The duplex LightCycler PCR test currently provides rapid and safe results.

Amniocentesis↗
PubMed2001

First-trimester fetal sex determination in maternal serum using real-time PCR.

Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developed to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses.

DNA↗
PubMed2001

Pott's puffy tumour: still not an eradicated entity.

Pott's puffy tumour is an infrequent entity characterised by one or more subperiosteal abscesses associated with frontal bone osteomyelitis. Although cases in patients of all ages have been reported, teenagers are the most frequently affected. Early diagnosis and aggressive treatment are essential because of the high risk of severe neurological complications, such as epidural abscess, subdural empyema, and secondary septic thrombosis of the dural sinuses. This paper describes the case of a patient with a subperiosteal abscess resulting from sinusitis, with orbital and intracranial extension, and subsequent neurological complications. Despite modern methods of diagnosis and treatment, 13 new cases have been published in the last 5 years; in at least 3 (23%) of these cases there were serious neurological complications. Upper respiratory infections and sinusitis are leading causes of visits to the emergency department in the paediatric age group; however, no risk factors for poor outcome have so far been identified in any of these patients.

Abscess↗
PubMed2001

First isolation of Candida dubliniensis in Rio Grande do Sul, Brazil.

Candida dubliniensis is a newly recognized species closely phylogenetically related to Candida albicans and is commonly associated with oral candidiasis in human immunodeficiency virus-positive patients. In this paper we report the isolation of three strains of C. dubliniensis, from AIDS patients, in the state of Rio Grande do Sul (Brazil). The phenotypic identification was based on germ tube emission, abundant production of chlamydospores, assimilation of sucrose but not of xylose and the inability to grow at 42 degrees C. Randomly amplified polymorphic DNA (RAPD) analysis and genomic DNA sequencing confirmed the distinct genetic nature C. dubliniensis. Topics related to the epidemiology, isolation, phenotypical and genotypical identification of C. dubliniensis are also discussed.

AIDS-Related Opportunistic Infections↗
PubMed2001

Galactomannan and polymerase chain reaction for the diagnosis of primary digestive aspergillosis in a patient with acute myeloid leukaemia.

Primary intestinal invasive aspergillosis is rarely reported in leukaemic patients. We describe a case of jejunal invasive aspergillosis in the setting of aplasia following chemotherapy for acute myeloid leukaemia. The diagnosis was confirmed by biopsy obtained during surgery and our polymerase chain reaction (PCR) test confirmed Aspergillus flavus as the fungus responsible. This patient had high levels of circulating galactomannan, an antigen secreted by Aspergillus sp., in serum. The ELISA test for galactomannan has been developed to improve the diagnosis of invasive aspergillosis but presents a 5-15% false positive rate. We suggest that some false positive results might be due to non-respiratory invasive aspergillosis, the usual localization of invasive aspergillosis. Our PCR test was also positive in serum. In case of positive results in serum with antigen and/or PCR tests without respiratory symptoms, the intestinal localizations should be investigated.

Aspergillosis↗
PubMed2001

Sandflies (Diptera: Psychodidae) of the Amazônia of Maranhão. V. Seasonal occurrence in ancient colonization area and endemic for cutaneous leishmaniasis.

In this paper, the seasonal abundance of 25 sandfly species (1 of the Brumptomyia genus and 24 of the Lutzomyia genus) found at P1V5, municipal district of Buriticupu, Maranhão State, is discussed. The capture was carried out from 18:00 P.M. to 6:00 A.M., once a month, from January to December 1996. CDC light traps were set up in the forest, in the peri and intradomicile environments. Five species were only found in the rainy season (January to June), being represented by one or two individuals; eight species occurred only in the dry season (July to December) and eleven species appeared in both seasons. The most frequent species in the dry period were: L. whitmani (26.3%), L. serrana (23%), L. choti (22.8%), L. evandroi (7.5%), L. longipalpis (5.8%), L. termitophila (3.3%), L. shannoni (3%) and L. migonei (2.5%). In the rainy season, L. whitmani was the prevailing species (74%), followed by L. termitophila (4%), L. umbratilis (3.4%), L. serrana (2.8%), L. evandroi (2,8%) and L. claustrei (2.4%). L. whitmani was thought to be an annual species, occurring in the entire year of study. The others species, with exception to L. serrana and L. evandroi, showed a seasonal, punctual or peripheric pattern.

Animals↗
PubMed2001

[Intraabdominal metastasis of cerebellar medulloblastoma through ventriculoperitoneal shunt].

We present a 6-year-old girl with cerebellar medulloblastoma causing obstructive hydrocephalus that was treated by ventriculoperitoneal shunting. The patient subsequently underwent surgical excision of the tumor followed by adjuvant craniospinal radiotherapy. Nine months after shunting, multiple intraabdominal metastatic lesions were found. Although the risk is low, ventriculoperitoneal shunting may facilitate the spread of malignant cells.

Abdominal Neoplasms↗
PubMed2000

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.

This report is of a 14-month-old girl affected with severe hemophilia A. Both her parents had normal values for factor VIII activity, and von Willebrand disease type 2N was excluded. Karyotype analysis demonstrated no obvious alteration, and BclI Southern blot did not reveal F8 gene inversions. Direct sequencing of F8 gene exons revealed a frameshift-stop mutation (Q565delC/ter566) in the heterozygous state in the proposita only. F8 gene polymorphism analysis indicated that the mutation must have occurred de novo in the paternal germline. Furthermore, analysis of the pattern of X chromosome methylation at the human androgen receptor gene locus demonstrated a skewed inactivation of the derived maternal X chromosome from the lymphocytes of the proband's DNA. Thus, the severe hemophilia A in the proposita results from a de novo F8 gene frameshift-stop mutation on the paternally derived X chromosome, associated with a nonrandom pattern of inactivation of the maternally derived X chromosome. (Blood. 2000;96:4373-4375)

Child, Preschool↗
PubMed2000

Somatic mosaicism and compound heterozygosity in female hemophilia B.

Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. The presence of dysfunctional antigen in the latter strongly suggested that these mutations are in trans. Neither mutation was found in leukocyte DNA from the asymptomatic parents, but the mother was in somatic mosaicism for the shared splice site mutation. This case illustrates the importance of defining the phenotype and considering somatic mosaicism in sporadic cases. It underlines the limitations of complete gene sequencing for the detection of mosaicism and has implication for genetic counseling. (Blood. 2000;96:1585-1587)

Adolescent↗
PubMed2000

Prospective study of toxoplasma reactivation by polymerase chain reaction in allogeneic stem-cell transplant recipients.

Toxoplasmosis is a rare but life-threatening complication of allogeneic stem-cell transplantation. Polymerase chain reaction (PCR) offers the possibility to make the diagnosis earlier than conventional techniques, and is then expected to improve the prognosis. We undertook a prospective screening using a competitive PCR in blood in 32 stem-cell transplant recipients. The sampling covered the first 150 days post-transplant, at days 21, 30, 45, 60, 90, 120, and 150. Twenty-four patients had anti-toxoplasma antibodies before transplant. Three of them (12.5%) had transient PCR-positive samples at 21, 45, and 90 days post-transplant, respectively. The three PCR-positive patients were febrile but had no funduscopic examination or cerebral computerised tomography (CT) scan abnormalities. The PCR signal disappeared when the patients were given trimethoprim-sulfamethoxazole, and no full-blown toxoplasmosis was observed. Toxoplasma reactivation evidenced using PCR is frequent in seropositive patients not receiving trimethoprim-sulfamethoxazole during the 1-3 months post-transplant. Toxoplasma PCR should be included in the diagnostic strategy of fever of unexplained origin in allogeneic stem-cell transplant recipients. Then, prompt specific therapy can be initiated to avoid development of full-blown toxoplasmosis.

Adult↗
PubMed2000

Real-time PCR for diagnosis and follow-up of Toxoplasma reactivation after allogeneic stem cell transplantation using fluorescence resonance energy transfer hybridization probes.

Toxoplasma reactivation is a life-threatening complication of allogeneic stem cell transplantation. A poor prognosis is probably linked to a difficult diagnosis, based on the detection of evidence of parasites in tissue. We developed a real-time PCR test using fluorescence resonance energy transfer hybridization probes to detect and quantify Toxoplasma gondii DNA in serum. This PCR test gave reproducible quantitative results over a dynamic range of from 0.75 x 10(6) to 0.75 parasites per PCR mixture. Serial samples from four patients with toxoplasma reactivation were evaluated. Three patients had several consecutive PCR-positive samples which corresponded to </=0.75 parasites. These three patients became PCR negative during trimethoprim-sulfamethoxazole therapy but never developed clinically apparent toxoplasmosis. In contrast, one patient had an increasing PCR signal, from 1 to 396 parasites in 12 days, and developed cerebral symptoms. The parasite count decreased to 5 parasites in 3 days after pyrimethamine-clindamycin treatment. Real-time quantitative PCR is useful for diagnosis and follow-up of toxoplasma reactivation.

Adult↗
PubMed2000

Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B.

A method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX gene. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating the efficiency of the method. Furthermore the described procedure offers many advantages compared to other screening detection methods: it is fast (less than 48 h), simple (partly automated) and of relatively low cost (it requires only one PCR).

Codon, Nonsense↗