Biomedical subjects

J I Rodríguez

Publications and source records attributed to J I Rodríguez.

At least 19 recordsLinked to original sources

PubMed2006

Mitochondrial activity, distribution and segregation in bovine oocytes and in embryos produced in vitro.

Contents Bovine oocytes and embryos produced in vitro were studied to determine the mitochondrial pattern of distribution, segregation and activity using DIOC 6 and Jc-1 fluorescence. The highest fluorescence level observed in mature oocytes was taken as 100% activity and six activity levels were estimated as follows: (1) 0%, (2) 1-15%, (3) 16-30%, (4) 31-50%, (5) 51-75% and (6) 76-100%. Three patterns of mitochondrial distribution were found: (1) diffused throughout the cytoplasm in oocytes and embryos, (2) pericytoplasmic in oocytes and embryos, and (3) perinuclear only in embryos. The segregation of mitochondria in blastomeres showed two distinct patterns: (1) symmetrical with an even mitochondrial population, and (2) asymmetrical with different numbers of mitochondria in each blastomere. In immature oocytes, mitochondrial activity was very low and the distribution was diffuse or negligible, while in mature oocytes the activity was high and the distribution was diffuse or pericytoplasmic. Competent embryos up to the 16-cell stage showed intermediate levels of activity (16-50%) but activity decreased thereafter up to the blastocyst stage. Non-competent embryos showed low levels of activity (1-15%) at all stages. These results suggest that mitochondria might play an important role during early development and that a minimum threshold of activity regulates the potential competence for reaching the blastocyst stage.

Animals↗

PubMed2006

[Thyroid C cells are decreased in experimental CDH].

BACKGROUND/AIM: Experimental CDH is often associated with malformations of neural crest origin. Several of these features are present in human CDH and therefore likely similar pathogenic mechanisms should be explored. The aim of the present study is to examine whether thyroid C-cells, another neural crest derivative, are abnormal in this rat model. METHODS: Pregnant rats were exposed either to 100 mg of 2-4-dichlorophenyl-p-nitrophenyl ether (nitrofén) or vehicle (controls) on 9.5 day of gestation. Fetuses were recovered on day 21st and the thyroids of those with CDH (68%) were immuno-histochemically stained with anti-calcitonin antibody. The number of positively stained cells per high power field were counted using a computer-assisted image analysis method in at least 5 sections per thyroid. The distribution of the cells within the gland was assessed as well. Comparisons between CDH and control rats were made by non-parametric tests with a significance threshold of p<0.05. RESULTS: The number of c-cells was dramatically reduced in CDH animals in comparison with controls (101.2 +/- 61.3 vs 23.1 +/- 37, p<0.0001). Histology of the thyroid was similar in both groups, but the distribution of positive C-cells within the gland followed an abnormal pattern in CDH rats with the cells tending to be located at the periphery rather than at the core of the lobes. CONCLUSIONS: Nitrofén induces a severe decrease in thyroid C cells accompanied by abnormal distribution patterns. These results add further evidence of the involvement of a neural crest dysregulation as a component of the pathogenesis of experimental CDH. Whether there is or not a clinical counterpart to these findings is still unknown, but the nature of the cardiovascular and craneo-facial malformations in some babies with CDH strongly support further research in this field.

Animals↗

PubMed2005

Prevention of hyperacute rejection in a model of orthotopic liver xenotransplantation from pig to baboon using polytransgenic pig livers (CD55, CD59, and H-transferase).

INTRODUCTION: The search for alternative sources for transplant organs leads us to the search for animals as an inexhaustible source of organs. The objective of this study was to analyze whether livers from polytransgenic pigs expressing the human complement regulatory proteins CD55 (hDAF), CD59, and alfa alpha1,2-fucosyltransferase (H-transferase), protected against hyperacute rejection after orthotopic liver xenotransplantation to a baboon and also to study pig liver function in a nonhuman primate. MATERIALS AND METHODS: Nine liver transplants from pig to baboon were divided into two groups: a control group (n = 4) of genetically unmodified pigs and an experimental group (n = 5) of pigs transgenic for CD55, CD59, and H-transferase as donors. All the donating piglets obtained through hysterectomy were maintained in specific pathogen-free conditions. The selection of transgenic pig donors followed demonstration of transgene expression using monoclonal antibodies (antiCD55, antiCD59) and immunohistological studies on liver biopsies. RESULTS: All animals in the control group developed hyperacute rejection with survival rates less than 16 hours without function of transplanted livers. In the experimental group none of the animals suffered hyperacute rejection. Survival in this group was between 13 and 24 hours. The livers were functional, producing bile and maintaining above 35% prothrombin activity. Only in one case was there primary dysfunction of the xenograft. CONCLUSION: Polytransgenic livers for complement regulatory proteins prevent hyperacute rejection when xenotransplanted into a baboon.

Acute Disease↗

PubMed2004

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

We present the case of a floppy neonate with marked and generalized weakness, respiratory insufficiency and fetal akinesia deformation sequence. The infant showed multiple joint contractures, two bone fractures and needed mechanical ventilation from birth to death at 16 days of age. Electrophysiological assessment showed electrically unexcitable motor and sensory nerves. Muscle biopsy showed diffuse atrophy of type I and type II fibers. Necropsy confirmed the diagnosis of infantile spinal muscular atrophy (SMA) with severe loss of motor neurons in anterior horns and motor nuclei of brainstem. There were also neuronal loss, gliosis, chromatolysis, ballooned cells, empty cell beds and neuronophagia figures in other brainstem and brain nuclei. Genetic analysis of the patient revealed homozygous deletions of survival motor neuron gene 1 (SMN1) and a single copy of SMN2 in region 5q13. This case confirms that the loss of spinal motor neurons underlies the muscular atrophy in severe cases of 5q SMA. This case also shows that the presence of multiple joint contractures, bone fractures and respiratory insufficiency in SMA in the neonatal period does not necessarily exclude the occurrence of classical deletions in the SMA 5q13 region. Rather, these atypical clinical findings show the extreme severity and prenatal onset of the disease in these SMA cases, which may be related with the occurrence of a single copy of SMN2 gene. More reports of clinically, pathologically and genetically well-documented cases are essential to define the different types of this disease.

Chromosomes, Human, Pair 5↗

PubMed2004

[Utility of bronchoalveolar lavage in immunocompromised children: diagnostic yield and complications].

OBJECTIVE: Immunocompromised children are at high risk for developing pneumonia due to opportunistic pathogens. The role of bronchoalveolar lavage (BAL) in the evaluation of such patients is still controversial. MATERIAL AND METHOD: We reviewed the hospital records of immunosuppressed patients with respiratory symptoms who had undergone BAL in the pediatric department of the Hospital Clinico de la Pontificia Universidad Católica of Chile. RESULTS: Sixty-eight BAL were performed on 54 children (mean age: 7.5 years) receiving wide-spectrum antibiotic treatment. The most frequent respiratory signs and symptoms were fever (90%) and cough and respiratory distress (81%); 18% had neutropenia and 43% thrombocytopenia. A specific pathogen was identified in BAL samples for 25 patients (37%). The pathogens isolated were bacteria in 21 cases, viruses in 6, Pneumocystis carinii in 5, fungi in 4, and Mycobacterium tuberculosis in one. Fourteen (19%) of the children who underwent BAL were on mechanical ventilation. Outcome was satisfactory in all cases. Twenty-one complications were recorded, 17 of which were minor (mild hypoxemia or fever) and 4 major, requiring tracheal intubation. No deaths were recorded. CONCLUSIONS: Evaluation by fiberoptic bronchoscopy together with BAL proved to be a safe procedure with an adequate diagnostic yield that made it possible to determine the etiology of the pulmonary infiltrates seen in chest x-rays. Both positive and negative results of BAL were useful for treating the patients.

Adolescent↗

PubMed2001

Clinical course, treatment, and multivariate analysis of risk factors for pyogenic liver abscess.

BACKGROUND: Pyogenic liver abscess is a threatening condition. The purpose of this study was to audit the clinical behavior and to analyze the risk factors. METHODS: One hundred and thirty-three patients treated in five hospitals during the years 1985 to 1997 were studied. By univariate and multivariate analysis we tried to identify any risk factor associated with complicated clinical course and complicated-related clinical course, and with hospital mortality. RESULTS: Sixty-three patients (47%) were subjected to a percutaneous drainage, 45 (34%) were treated by open surgical drainage, and the remaining 25 cases (19%) received antibiotic therapy alone. Prognostic variables for a complicated clinical course were the presence of shock, low hemoglobin level, elevated prothrombin time, and polymicrobial infection. Shock, distress, low hemoglobin level, increased creatinine, and positive blood culture were significant predictors of a complicated-related clinical course. Concerning mortality, a biliary origin, shock, multiple abscesses, low hemoglobin level, and high concentration of blood urea nitrogen were independent predictors. CONCLUSIONS: Treatment of pyogenic liver abscesses should be tailored to each patient, however, the majority of them can be successfully treated with antibiotics and percutaneous methods. Those with signs of organ failure or septicemia should preferably be managed in the intensive care unit.

Anti-Bacterial Agents↗

PubMed1999

Lethal neonatal Hutchinson-Gilford progeria syndrome.

We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.

Abnormalities, Multiple↗

PubMed1998

[Achondroplasia: molecular study of 28 patients].

BACKGROUND: The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia. PATIENTS AND METHODS: Twenty eight achondroplastic patients were studied. Genomic DNA obtained from blood was used to amplify using PCR a 164 bp segment of FGFR3 encompassing the transmembrane domain. The occurrence of the G-->A transition and of the G-->C transversion at the first base of codon 380 were investigated by digestion with the restriction enzymes Sfcl and Mspl followed by electrophoretic analysis of the products. RESULTS: All achondroplastic patients were found to be heterozygous for the Gly380Arg mutation, as a consequence of the G-->A transition in 27 cases and of the G-->C transversion in the remaining patient. None of these changes were found in control subjects including a hypochondroplastic patient. CONCLUSIONS: The identification of the Gly380Arg mutation can be used in Spain for conclusive diagnosis of achondroplasia. The guanine at the first position of codon 380 of FGFR3 exhibits similarly increased frequency of mutation than in other populations, an thus it is unlikely that the genetic background of the population determines the mutation potential of this guanine.

Achondroplasia↗

PubMed1997

Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.

We report on a patient whose clinical, radiologic, and histopathologic findings are compatible with the Piepkorn type of lethal short-limb osteochondrodysplasia, but who also showed multinucleated giant chondrocytes in cartilage. Multinucleated giant cells are an unusual finding in osteochondrodysplasias, having been reported in atelosteogenesis type I and boomerang dysplasia. This uncommon histopathologic finding and the clinical and radiographic findings strongly support the diagnosis of boomerang dysplasia in the present patient. Our patient supports the previously suggested existence of an entity including atelosteogenesis and boomerang dysplasia. If this is so, the current patient and that described by Piepkorn et al. [1977: Teratology 16:345-350] could represent the most severe clinical expression of that condition.

Cartilage↗

PubMed1997

Inhibition of virulent Mycobacterium tuberculosis by Bcg(r) and Bcg(s) macrophages correlates with nitric oxide production.

The Nramp1 gene controls macrophage resistance or susceptibility to several intracellular microorganisms; however, there is conflicting evidence regarding its role during infection with virulent Mycobacterium tuberculosis. Nitric oxide (NO) is a potent antimycobacterial agent produced by macrophages, which is also regulated by Nramp1. The in vitro ability of B10R (resistant) and B10S (susceptible) murine macrophages to inhibit M. tuberculosis H37Rv and to produce NO in response to infection and interferon-gamma (IFN-gamma) was compared. Infected B10R macrophages inhibited [3H]uracil incorporation by M. tuberculosis and produced higher amounts of NO than did B10S macrophages. IFN-gamma increased the inhibitory activity of both cells. Inhibition of M. tuberculosis by IFN-gamma-activated B10R macrophages was reversed by N(G)-monomethyl-L-arginine (N(G)MMA). L-arginine restored NO production and increased the antimycobacterial activity by IFN-gamma-stimulated N(G)MMA-treated macrophages. The Bcg/Nramp1 gene may regulate macrophage resistance or susceptibility to virulent M. tuberculosis by a differential capability of these cells to produce NO.

Animals↗

PubMed1996

A new case of fibrochondrogenesis from Spain.

A rare, neonatally lethal chondrodysplasia with histological characteristics was first described in 1978 and the authors named the condition fibrochondrogenesis. Here we report the eighth published case of fibrochondrogenesis. This was identified in a population of 1,158,067 consecutive livebirths, so we can assume that this figure should be the minimal prevalence for livebirths.

Abnormalities, Multiple↗

PubMed1995

Mulibrey nanism: three additional patients and a review of 39 patients.

We report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.

Abnormalities, Multiple↗

PubMed1994

Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.

Schinzel-Giedion syndrome (SGS) is a rare and incompletely defined condition. This is the third postmortem study on a boy with SGS and other unusual findings. He had a primitive neuroectodermal tumor in the lumbosacral region, bilateral syndactyly of hands and feet, and brain anomalies in addition to the major manifestations of the syndrome. We consider these clinical findings as possible additional manifestations of the syndrome since, of 19 SGS patients reported, 4 had syndactyly and 3 had embryonal tumors. In addition, the 3 published necropsy studies report brain anomalies. Knowledge that these changes occur in SGS may help facilitate diagnosis and improve our understanding of the syndrome.

Abnormalities, Multiple↗

PubMed1994

Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome.

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by "coarse" face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a "coarse" face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lymphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of "coarse" face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling.

Abnormalities, Multiple↗

PubMed1994

Immune responsiveness and lymphokine production in patients with tuberculosis and healthy controls.

The aim of the present study was to determine the profile of immune responsiveness that differentiates patients with tuberculosis (TB) from healthy tuberculin-positive controls. Forty-five patients with pulmonary TB and 16 healthy tuberculin-positive controls, all human immunodeficiency virus negative, were studied. Patients had decreased reactivity to tuberculin, diminished proliferative response to purified protein derivative (PPD), lower concentrations of interleukin-2 (IL-2) and gamma interferon in PPD-stimulated cultures, no increase in the percentage of gamma/delta cells in PPD-stimulated cultures, and higher immunoglobulin G antimycobacterial antibodies compared with control subjects. Furthermore, controls exhibited decreased production of IL-4 by PPD-stimulated cells. Multivariate discriminant and factor analyses demonstrated divergent patterns of immune reactivity against mycobacterial antigens. The association of IL-4 and immunoglobulin G antibody levels in patients, in contrast to the high reactivity to tuberculin, increased proliferation to PPD, and higher levels of IL-2 and gamma interferon observed in healthy controls suggested that most TB patients exhibit a TH2 pattern of immune responsiveness while tuberculin-positive healthy individuals have a TH1 pattern.

Adolescent↗

PubMed1993

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.

We describe 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. All 3 died neonatally of hepatic failure. Clinically, they presented with a pattern of malformations characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All 3 cases had male external genitalia with cryptorchidism, and 2 of them, a small penis. Necropsies showed similar internal anomalies, consisting of müllerian duct remnants, lymphangiectasis, and renal anomalies. The karyotypes were normal (46, XY) in skin fibroblasts (Case 1) and in peripheral blood lymphocytes (Case 3). Although this pattern of congenital anomalies must be differentiated from several other lethal syndromes, to our knowledge, no similar cases have been described previously. Cause of this syndrome is unknown. Because Case 2 had a previous brother with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X-linked trait.

Abnormalities, Multiple↗

PubMed1993

Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.

Experimental studies have demonstrated that the DiGeorge anomaly is due to cranial neural crest abnormalities. In the present study, the quantitation of thyrocalcitonin immunoreactive cells (C-cells) has been used to evaluate whether cells derived from the cranial neural crest are or are not present in normal proportions in patients with this anomaly. Thyroid sections from 11 such patients and 11 control patients were studied immunohistochemically at autopsy in order to determine the number and distribution of thyrocalcitonin-containing cells. Patients with DiGeorge anomaly showed thymic and parathyroid aplasia/hypoplasia and cardiovascular defects, such as type B interrupted aortic arch, truncus arteriosus and tetralogy of Fallot. Other associated defects were alobar holoprosencephaly and meningocele (previously unreported defects in this anomaly), arhinencephaly, renal cystic dysplasia, ureterohydronephrosis, esophageal atresia with tracheoesophageal fistula, and cleft lip and palate. The volume density of C-cells (1.187%) and the mean number of C-cells per follicle (1.42) was significantly lower in patients with DiGeorge anomaly than in control patients (3.475% and 2.367, respectively). These results indicate a decrease in cells derived from the neural crest in patients with DiGeorge anomaly, and support the hypothesis of a neural crest disturbance as the pathogenetic factor responsible for this anomaly.

Calcitonin↗

PubMed1993

Decrease in calcitonin-containing cells in truncus arteriosus.

Experimental studies in chick embryos have demonstrated that truncus arteriosus (TA), a form of conotruncal cardiac defect, is due to abnormalities in the cranial neural crest. However, no data are available to support this hypothesis in humans with isolated TA. In the present study, the assessment of calcitonin immunoreactive cells (C-cells) has been employed to evaluate whether or not the proportion of thyroid cells derived from the cranial neural crest is normal in patients with isolated TA. Thyroid sections from 15 such patients in which no other extracardiac malformations were neither clinically nor pathologically found, and from 11 control age-matched patients were studied immunohistochemically at autopsy in order to determine the number and distribution of calcitonin-containing cells. The volume density of C-cells (0.888%) and the number of C-cells per follicle (0.991) was significantly lower in patients with TA than in control patients (3.475%, and 2.367, respectively). The decrease of neural crest-derived cells in the thyroid of patients with "isolated" TA documents more extent abnormalities than clinically suspected and supports the hypothesis of neural crest disturbance as the pathogenetic factor responsible for this heart malformation.

Calcitonin↗