Biomedical subjects

M Aguinaga

Publications and source records attributed to M Aguinaga.

10 recordsLinked to original sources

PubMed2006

Prenatal diagnosis of trisomy 21 without the Down syndrome phenotype.

OBJECTIVE: To report a patient with the prenatal diagnosis of trisomy 21 without the clinical Down syndrome (DS) phenotype secondary to the absence of the Down syndrome chromosomal region (DSCR) in a derivative chromosome 21. CASE REPORT AND METHODS: A newborn patient with prenatal diagnosis of duodenal atresia. Cytogenetic studies revealed a regular trisomy 21. At birth, she did not present the clinical features of DS. FISH analysis was performed in the patient with the LSI spectrum probe for the DSCR and in the mother with FISH multicolor analysis using painting probes for chromosomes 20 and 21. RESULTS: FISH analysis in the patient showed two hybridization signals suggesting that the third chromosome 21 did not have the DSCR region explaining the absence of the DS phenotype. FISH multicolor analysis in the mother showed three hybridization signals for chromosomes 20 and 21, concluding a maternal karyotype, 46,XX,t(20;21)(p11.2;q22.1). CONCLUSIONS: The patient was found to have a derivative chromosome 21 secondary to a nondisjunction error in meiosis II without the DS critical region and the phenotype was mostly secondary to the combination of the two partial trisomies.

Adult↗

PubMed2001

PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype.

According to cytogenetic analysis, about 50% of Turner individuals are 45,X. The remaining cases have a structurally abnormal X chromosome or are mosaics with a second cell line containing a normal or abnormal sex chromosome. In these mosaics, approximately 20% have a sex marker chromosome whose identity cannot usually be determined by classical cytogenetic methods, requiring the use of molecular techniques. Polymerase chain reaction (PCR), primed in situ labeling (PRINS), and fluorescence in situ hybridization (FISH) analyses were performed in 8 patients with Turner syndrome and 45,X mosaic karyotypes to determine the origin and structure of the marker chromosome in the second cell line. Our data showed that markers were Y-derived in 2 patients and X-derived in the remaining 6 patients. We were also able to determine the breakpoints in the two Y chromosomes. The use of cytogenetic and molecular techniques allowed us to establish unequivocally the origin, X or Y, of the marker chromosomes in the 8 patients with Turner phenotype. This study illustrates the power of resolution and utility of combined cytogenetic and molecular approaches in some clinical cases.

Adolescent↗

PubMed2001

Use of plasma exchange and heparin during cardiopulmonary bypass for a patient with heparin induced thrombocytopenia: a case report.

Patients with documented history of heparin-induced thrombocytopenia (HIT) pose a difficult problem during surgery using cardiopulmonary bypass (CPB). Several alternatives to heparin exist, but these products either are not approved for use in the United States or have more side effects than heparin. We report on a patient with documented heparin-induced antibody and left main coronary artery disease who underwent uneventful coronary artery bypass surgery and recovery by using preoperative plasmaphresis and limited use of porcine intestinal heparin during CPB.

Acute Disease↗

PubMed1998

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.

Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has demonstrated a higher proportion of mosaicism, and studies in different populations have shown an extremely variable frequency of Y mosaicism of 0-61%. We used Southern blot analysis and polymerase chain reaction (PCR) to detect the presence of Ycen, ZFY, SRY, and Yqh in 50 Mexican patients with UTS and different karyotypes to determine the origin of marker chromosomes and the presence of Y sequences. Our results indicated the origin of the marker chromosome in 1 patient and detected the presence of Y sequences in 4 45,X patients. Taken together, we found a 12% incidence of Y sequences in individuals with UTS. The amount of Y-derived material was variable, making the correlation between phenotype and molecular data difficult. Only 1 patient had a gonadoblastoma. We discuss the presence of Y chromosomes or Y sequences in patients with UTS and compare our frequency with that previously reported.

Adolescent↗

PubMed1996

Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.

A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome is described. The proposita, a 17-year-old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disease (brachydactyly and nail dysplasia). This is the fourth familial case reported in the literature with the triphalangeal thumb and brachyectrodactyly complex and the third of Mexican origin, reflecting a geographical predominance in the occurrence of this uncommon pathology.

Adolescent↗

PubMed1995

Heparin bonding of bypass circuits reduces cytokine release during cardiopulmonary bypass.

BACKGROUND: Heparin bonding of the cardiopulmonary bypass (CPB) pump circuit decreases complement activation and fibrinolysis. It is not known whether inflammatory cytokines produced during CPB can also be modulated by the more biocompatible heparin-coated circuit. METHODS: This initial study evaluated the impact of heparin-bonded CPB circuits on production of the cytokines interleukin-1 (IL-1), tumor necrosis factor-alpha (TNF-a), IL-6, and IL-8 in adults undergoing complex cardiac operations with prolonged CPB. Twenty patients had blood samples drawn immediately before and at hourly intervals after the start of CPB using either a conventional oxygenator and circuit (n = 14) or a covalently bonded heparin oxygenator and circuit (n = 6). Levels of IL-1, TNF-a, IL-6, and IL-8 were measured in all serum samples using a "sandwich" enzyme-linked immunosorbent assay. RESULTS: The levels of IL-6 and IL-8 increased in a time-dependent fashion in both groups, but the response was significantly less over time in the heparin-bonded group (p < 0.05) for both IL-6 and IL-8. Levels of IL-1 and TNF-a were not significantly elevated with lengthening bypass interval in either group. CONCLUSIONS: These data indicate that the use of heparin-coated bypass pump circuits results in lower serum levels of the inflammatory cytokines IL-6 and IL-8 than standard circuits. Biocompatible materials that decrease the inflammatory response to CPB may ultimately reduce the morbidity associated with cardiac operations.

Adult↗

PubMed1995

On the nature of the follicle-stimulating signal delivered to the ovary during exogenously controlled follicular maturation. A search into the immunological and biological attributes and the molecular composition of two preparations of urofollitropin.

In the present study, we analyzed the immunological and biological potencies as well as the molecular composition of urinary follicle-stimulating hormone (FSH) present in determined lots of regular and highly purified (HP) commercial preparations of urofollitropin in order to obtain additional insights on the particular type of gonadotropin signal received by the ovary during exogenously regulated ovarian stimulation. In both preparations, a high degree of FSH charge heterogeneity was detected as disclosed by chromatofocusing analysis (pH range 7.5 to < 4.0). Urinary FSH present in the HP compound was consistently more acidic and exhibited a longer survival in rat circulation than the regular formulation. Inter-batch variability for FSH heterogeneity and in vitro bioactivity was higher in the partially purified preparation than in the HP analog. In the regular preparation, the amount of immunoreactive and bioactive FSH per ampule was two times higher than that present in the HP preparation; the resultant in vitro B/I ratios were similar. Although both urinary FSH preparations showed detectable amounts of immunoreactive and bioactive luteinizing hormone and choriogonadotropin hormone material, the degree of activity present in the less purified formulation was considerably higher than that shown by the HP analog. When the capability of each urinary FSH preparation to induce ovarian tissue-type plasminogen activator enzyme activity in hypophysectomized rats was determined, both formulations exhibited similar potencies despite the existing differences in plasma clearance rate and charge distribution profile. The present study indicates that the isoform composition of urinary FSH in the two commercial preparations analyzed differs according to the degree of purity of the formulation. More FSH material is needed in the partially purified FSH preparation to induce biological effects similar in magnitude to those exhibited by the highly purified analog. The possible impact of these variations in the molecular composition of the FSH signal on other biological functions of the ovary during the course of exogenously controlled follicular growth and maturation still remains to be ascertained.

Animals↗

PubMed1989

Chromosomal mapping and nucleotide sequence of a human DNA autonomously replicating sequence.

A 1.1-kb human DNA fragment (ARSH1) capable of functioning as a putative origin of replication in yeast cells has been characterized both by in situ hybridization to human metaphase chromosomes and by DNA sequencing. Our hybridization studies show a preferential localization of ARSH1 in chromosome regions 1p34-36 and 2q34-37. DNA sequence analysis indicates that in addition to the consensus sequence required for ARS function in yeast cells, nuclear matrix-associated DNA motifs are also present in the 1.1-kb fragment. These results suggest that ARSH1 sequences may serve as points of anchorage to the nuclear matrix for chromosomes 1 and 2.

Amino Acid Sequence↗

PubMedDate not supplied

Severe hemorrhagic complication due to acquired factor V inhibitor after single exposure to bovine thrombin product.

Hemorrhagic complications have been reported after repeated exposures to bovine thrombin products due to development of factor V inhibitors. Our patient underwent emergency repair of acute aortic dissection and coronary artery bypass grafting. The patient developed leg wound infection at the saphenous vein harvest site, which was debrided and left open. Attempt to reclose the leg wound 1 month later was complicated by a life-threatening hemorrhage with markedly elevated activated partial thromboplastin time. There was no evidence of infection or disseminated intravascular coagulation, and further study identified low factor V level with positive factor V inhibitor. Treatment with plasmapheresis and steroid successfully reversed the coagulopathy. Detailed case review failed to reveal exposure to any thrombin products other than the one used for the aortic dissection repair. This case was unusual because only a single exposure to this product resulted in severe hemorrhagic complication 1 month after surgery.

Aortic Dissection↗

PubMedDate not supplied

[Eating disorders].

At the present time, research into Eating Disorders is being carried out in very different areas: clinical and diagnostic, epidemiological, comorbidity, aetiopathogeny, treatment and forms of care. This paper reviews this type of pathology, and aims to update the most important data in the different fields. The epidemiological studies of recent decades would indicate a considerable increase in the rates of incidence and prevalence of both Nervous Anorexia and Nervous Bulimia. On the other hand, there is increasing confirmation of an early appearance of these disorders. Similarly, the discovery of certain physiopathological appetite markers and/or regulators opens a new path for understanding this phenomenon. Research into these problems has reached a certain consensus in aspects such as: a multidimensional consideration of the ethiopathogeny, increasingly purified diagnostic criteria, care and therapeutic procedures and resources to be used in treatment.

English Abstract↗