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Biomedical subjects

M Lima

Publications and source records attributed to M Lima.

At least 19 recordsLinked to original sources
PubMed1998

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

BACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data. The utility of the death causes contained in the death registers of the patients with MJD was determined in this study. OBJECTIVES: To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed. DESIGN: Case-control study. METHODS: The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death. RESULTS: There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history (chi(2) = 51.69, P < .001) and for those whose disease was identified by examination (chi(2) = 27.78, P = .004). However, the cause of death was in accord with the presence of the disease in only 40% of the cases reported as being identified only by family history. In the cases in which the disease was clinically diagnosed, only nearly 38% of the registers provided reliable information as to MJD being the direct cause of death. CONCLUSIONS: The fact that only nearly 40% of the patients with clinically confirmed MJD had a cause of death compatible with MJD precludes the use of cause of death as a means of identifying affected individuals in the Azorean MJD pedigrees.

Adult↗
PubMed1998

Multicystic kidney joined to the homolateral testis by an ectopic vas deferens: embryological hypothesis for a new description.

Ectopic location of the vas deferens is a rare congenital anomaly with multiple variations. The frequent association with ano-rectal abnormalities and hypospadias is well known. We report two cases of a newborn and a 3-year-old child with ectopic vas deferens coupled with a left multicystic kidney without any ureteral structure. Furthermore, the latter had a contralateral vesicoureteral reflux and anal agenesis with recto-bulbar fistula. Our attempt with this report is to explain the development of such anomalous deferential outlet into the multicystic kidney, according to the most qualified theory of the Wolffian duct embryology.

Child, Preschool↗
PubMed1998

Pure red cell aplasia associated to clonal CD8+ T-cell large granular lymphocytosis: dependence on cyclosporin A therapy.

This case report details a single patient with pure red cell aplasia (PRCA) associated with clonal CD3+, TCRalphabeta+, TCR-Vbeta8+, CD8+, CD57+ large granular lymphocytosis whose anaemia did not respond to conventional immunosuppressive therapy but did respond to cyclosporin A (CsA). The patient has become dependent on CsA for 7 years in order to control anaemia due to associated PRCA.

Aged↗
PubMed1998

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset. In the islands of the Azores (Portugal), MJD reaches the highest prevalence reported worldwide. It has been postulated that it is highly represented in the Azorean population as a result of a founder effect. To test this hypothesis, we reconstructed the ascending genealogies of the 32 Azorean families presently identified as harboring the disease (103 patients), using parish records as the main source of data. These patients were originally from the islands of São Miguel, Terceira, Graciosa, and Flores. The genealogies of the two main Azorean American families (Machado and Joseph) were also reconstructed. To identify the links between the MJD families, we calculated the kinship coefficient between the proponents of these genealogies. The family from Terceira was linked to three different MJD families from Flores through common ancestors. No kinship was observed between the MJD families from São Miguel and families from any other island. Links between the two Azorean American families and Azorean MJD families were found. The founders present in more than one ascendance were identified. Their chronological and geographic distribution indicates that more than one MJD mutation was introduced in the Azores, probably by settlers coming from the Portuguese mainland. The molecular evidence to date corroborates these results, because two distinct haplotypes have been established, one on the island of São Miguel and the other on Flores. Therefore molecular biology studies confirm the accuracy of the conclusions drawn from the genealogical evidence supporting the absence of a founder effect for MJD in the Azorean population.

Adult↗
PubMed1997

BCL-2 oncoprotein (p26) in splenic lymphoma with villous lymphocytes: a comparative study with other chronic B-cell disorders.

We compared the expression of the BCL-2 oncoprotein (p26) on B cells from 24 patients with splenic lymphoma with circulating villous lymphocytes (SLVL) with that observed on normal, mature B lymphocytes and on neoplastic B cells from 91 patients with other chronic B-cell malignancies. SLVL B cells showed levels of p26 intermediate between those found on normal B lymphocytes and on neoplastic B cells from patients with other chronic B-cell lymphoproliferative disorders.

B-Lymphocytes↗
PubMed1997

Decreased expression of bcl-2 (p26) in CD8(+) lymphocytes of patients with T-cell lymphoproliferative disorders of large granular lymphocytes.

The bcl-2 oncogene has been involved in the genesis of various B-cell neoplasms by means of encoding for p26, an apoptosis suppressor oncoprotein. The expression of p26 in lymphoproliferative disorders of large granular lymphocytes (LDLGL), a group of diseases whose mechanism leading to lymphocyte expansion is not yet clear, was not previously characterized. In order to further understand the biology of LDLGL, we compared the expression of p26 in CD8(+) lymphocytes of patients with CD3(+) LDLGL with that observed in normal individuals, patients with viral infection and patients with CD4(+) lymphoid neoplasms. We observed that upregulation of bcl-2 expression is not involved in the genesis of lymphocyte expansion in CD3(+) LDLGL. By contrast, when compared to normal peripheral blood counterparts, CD8(+, bright) lymphocytes of patients with LDLGL express low levels of p26 whereas CD8(+, dim) lymphocytes express normal or only slightly reduced levels of this oncoprotein. A similar pattern of expression of p26 was found in situations in which CD8(+) lymphocytes represent reactive activated cells.

Adult↗
PubMed1997

A comprehensive knowledge-based system for laboratory hematology.

The Coulter FACULTY knowledge-based systems, Professor Petrushka for peripheral blood interpretation, Professor Fidelio for flow cytometry immunophenotyping and Professor Belmonte for bone marrow reporting, have been installed in several hospitals in Spain, Portugal and the United Kingdom. In Spain and Portugal, the systems are part of the IZASA-Coulter CITOTECA workstation, which includes a video camera for capturing microscopic images and a networkable laboratory information system supporting color reports. At the Royal Hospitals Trust (St. Bartholomew's Hospital and The Royal London Hospital, London, UK), networked workstations are available and the system is used daily to generate bone marrow reports in the hematology laboratories. There have been considerable benefits from adopting Coulter FACULTY for bone marrow reporting, including faster turnaround time, improved quality of the reports and cost savings.

Artificial Intelligence↗
PubMed1997

Laparoscopic Nissen fundoplication with fibrin glue: experimental study on pigs.

Nowadays laparoscopy shows a great development in the pediatric age group. Pediatric surgeons are now able to study the possible applications in pediatric surgery of this new and fascinating procedure. A mandatory laparoscopic training to perform any important operation is clearly essential. Only a few cases of Nissen fundoplication have been reported in children. We suggest this experimental study in which we add a technical modification by using fibrin glue to tighten the gastric wrap on the esophagus positioning only two stitches at the extremes of the suture. The results were interesting and we think it an excellent starting point for a future clinical application of this new technique.

Animals↗
PubMed1997

The varicocele in pediatric age: 207 cases treated with microsurgical technique.

Between 1984 and 1995, 207 boys afflicted by varicocele have undergone surgery. They were all treated employing a venous microvascular termino-terminal anastomosis between spermatic and inferior epigastric veins. The recurrence rate with this technique (3%) is much lower than Ivanissevich's one (nearby 15%). The clinical results are optimal, with disappearance of varices in the majority of cases and improvement of the testicular trophism in the remainder. This technique enables the establishment of an immediate and physiological testicular venous outflow essential for testicular growth and development.

Adolescent↗
PubMed1997

Persistent Mullerian Duct Syndrome associated with transverse testicular ectopia: a case report.

The authors describe their experience in the treatment of a child, male phenotype, with a Transverse Testicular Ectopia (TTE), associated with a rudimentary uterus and two Fallopian tubes (Persistent Mullerian Duct Syndrome = PMDS). The boy was transferred to the Pediatric Surgical Unit of the University of Bologna from another hospital where at operation for bilateral cryptorchidism the diagnosis had become apparent. In order to exclude the presence of PMDS it is very important that an abdominal exploration should be performed in all cases of TTE where the testes are undescended. The diagnosis was made by an occasional detection: it is very important, when a TTE in which the testes are undescended is found, to perform the abdominal exploration, in order to exclude the presence of PMDS.

Choristoma↗
PubMed1997

Microvascular autotransplantation of the testis: the "refluo" technique.

We think that the microvascular orchidopexy is the best technique for the treatment of the high intraabdominal testis. To prevent the problems related to the performing of the anastomosis between the spermatic and the inferior epigastric arteries we changed the traditional way for microvascular orchidopexy performing the venous anastomosis only, relying on the collateral deferential circle for the arterial supply; we called this technique the "refluo testicular autotransplantation". We supported our idea with an experimental investigation in rats and rabbits, with which we confirmed the efficacy of our proposal. This original technique, performed in 41 cases, allowed us to gain three important ends: a) reduction of the age at operation (under two years); b) reduction of the operating time (2 hours); c) improved success rate compared with the Fowler-Stephens technique or staged orchidopexy.

Adolescent↗
PubMed1997

Prevalence, geographic distribution, and genealogical investigation of Machado-Joseph disease in the Azores (Portugal).

Machado-Joseph disease (MJD) is an autosomal, dominantly inherited neurodegenerative disorder of adult onset. The prevalence of MJD reaches its highest values in the islands of the Azores. A research program was undertaken to study the origin and spread of the mutant gene in the Azorean populations. Here, we present the first results of such a study. The Azorean MJD patients are grouped in 34 families and are distributed on 4 of the 9 Azore islands. Values of prevalence, carrier rate, and number of individuals at risk are reported. The genealogies of the patients were reconstructed to identify the founders. An analysis of the geographic distribution of the birthplaces of the patients compared with the birthplaces of the founders revealed the existence of areas that are clusters for both, thus defining crucial sites for the origin of the disease. Preliminary results on the number of links between the affected families show that 64.7% of them have at least one link with another MJD family. So far, a single source for the introduction of the mutant gene in the Azores has not been identified.

Adult↗
PubMed1996

Meningiomas of the cerebellopontine angle.

Meningiomas of the cerebellopontine angle (CPA) represent a clinically and surgically interesting entity. The opportunity of complete surgical excision and the incidence of impairment of nerval structures largely depend on the tumour biology that either leads to displacement of surrounding structures by an expansive type of growth or to an enveloping of nerval and vascular structures by an en plaque type of growth. As the origin and the direction of growth are very variable, the exact tumour extension in relation to the nerval structures and the tumour origin can be identified sometimes only at the time of surgery. Out of a series of 230 meningiomas of the posterior skull base operated between 1978 and 1993, data of 134 meningiomas involving the cerebellopontine angle are presented. There were 20% male and 80% female patients, age at the time of surgery ranging from 18 to 76 years, on the average 51 years. The clinical presentation was characterized by a predominant disturbance of the cranial nerves V (19%), VII (11%), VIII (67%) and the caudal cranial nerves (6%) and signs of ataxia (28%). 80% of the meningiomas were larger than 30 mm in diameter, 53% led to evident brainstem compression or dislocation and 85% extended anteriorly to the internal auditory canal. Using the lateral suboccipital approach in the majority of cases and a combined presigmoidal or combined suboccipital and subtemporal approaches in either sequence in 5%, complete tumour removal (Simpson I and II) was accomplished in 95% and subtotal tumour removal in 5%. Histologically the meningiotheliomatous type was most common (49%) followed by the mixed type (19%), fibroblastic (16%), psammomatous (7%), hemangioblastic (7%) and anaplastic (2%) types. Major post-operative complications were CSF leakage (8%) requiring surgical revision in 2% and hemorrhage (3%) requiring revision in 2%. While the majority of neurological disturbances showed signs of recovery, facial nerve paresis or paralysis was encountered in 17%, and facial nerve reconstruction was necessary in 7%. Hearing was preserved in 82% with improvement of hearing in 6%. The variability of tumour extension, the implications and limitations for complete surgical excision are discussed along with the experiences from the literature.

Adolescent↗
PubMed1996

Dihydroxyprogesterone acetophenide 150 mg + estradiol enantate 10 mg as monthly injectable contraceptives.

A survey among users and health personnel participating in the Salvadorian Social Security Institute (ISSS) Family Planning Program revealed interest in including a monthly preparation for injection as a contraceptive method offered by this Institution. The formulation containing dihydroxyprogesterone acetophenide (DHPA) 150 mg + estradiol enantate (E2EN) 10 mg was chosen for conducting an open and prospective study of efficacy and tolerability. Between January 1992 and March 1994, 7054 women were treated with this product for a total of 60010 months. A sample composed of 4505 women treated at this Institution confirmed that average users are young, have one or two children, do not show a particular geographical distribution and choose the monthly injection instead of oral contraceptives as the first contraceptive method or for the puerperium. The study formulation showed a high efficacy (Pearl Index: 0.018) and tolerability (general withdrawal rate throughout the study: 27.09%). The most frequent adverse events included bleeding disorders, headache and mastalgia; their incidence decreased spontaneously from the sixth month (3.9%), reaching 0% after two years. Treatment was discontinued due to adverse events in 3.47% of women. No significant bodyweight or systolic and diastolic blood pressure alterations were observed. Based on these results, the monthly injectable contraceptive was included in the basic product list at ISSS.

Adolescent↗
PubMed1996

Cytogenetic findings in a patient presenting simultaneously with chronic lymphocytic leukemia and acute myeloid leukemia.

A case of simultaneous presentation of B-chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) is described. CLL was documented by bone marrow and peripheral blood lymphocytosis with a typical B-CLL immunophenotype. The diagnosis of AML was supported by the presence of bone marrow and circulating blast cells positive for myeloperoxidase and myeloid-associated markers. Although the immunophenotyping and morphocytochemical studies indicated two different cell populations (mature B-CLL lymphocytes and myeloblasts), chromosome aberrations commonly associated with CLL and AML were found simultaneously in the same metaphases obtained from unstimulated 24-hour cultures of peripheral blood cells.

Aged↗
PubMed1996

Ectopic cervical thymus: case report.

Ectopic cervical thymus is rarely considered in the differential diagnosis of cervical masses: this lesion is essentially asymptomatic and generally occupies a position in the neck along the carotid sheath, underneath the sterno-cleido-mastoid muscle. It is supposed that most of these masses arise as a consequence of migration defects during glandular embryogenesis. Ectopic thymus rarely invades contiguous structures but in the literature some cases of malignant transformation of aberrant cervical thymus have been reported. Some non-invasive investigations (MRI, ultrasonography) are useful but accurate diagnosis depends eventually on surgical excision and histologic examination.

Choristoma↗