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J I Rodríguez

Publications and source records attributed to J I Rodríguez.

At least 19 recordsLinked to original sources
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↗
PubMed1993

Vascular anomalies in campomelic syndrome.

We report on 4 patients with the campomelic syndrome (CS) in whom postmortem angiography of the lower limbs was performed. Of the 4 patients, 3 were phenotypic females (2 of them with a 46,XY karyotype) and one was a male with a normal 46,XY karyotype. Three fulfilled the criteria of CS, and one (phenotypically female with a 46,XY karyotype) lacked the lower limb bowing and the talipes equinovarus typical of CS. This infant may constitute a further example of the recently reported CS without campomelia. The results of the angiographic study are compared with 46 postmortem angiographies of normal fetuses and newborn infants at different gestational ages. In the first 3 CS patients the main arterial axis of the lower limb, formed by the superficial femoral and anterior tibial arteries, had smaller diameters than expected while the profunda femoris and posterior tibial arteries had greater diameters than age-matched controls. However, the most striking abnormality was the absence or marked deficiency of the anterior tibial artery. Its terminal branch, the dorsalis pedis artery, was also absent and the plantar arch was abnormally formed by the posterior tibial artery either alone or in conjunction with the peroneal artery. The normal arterial pattern was found in the patient who lacked bowed bones. This finding supports a developmental association between vascular defects and lower limb anomalies in CS. This aberrant arterial pattern in CS may affect or be affected by muscle development. The shortness of the posterior femoral and calf muscles fix the knee and the ankle joints.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1993

[Pleural empyema as a complication of the sclerotherapy of esophageal varices].

We present three patients developing pleural empyema after sclerotherapy of esophagic varixes. In all of them, the presence of persistent fever syndrome following the sclerotherapy, along with radiological images of pleural overflow, were the starting point of the patient's study. In the emergency esophagogrames, the extravasation of contrast outside the esophagus could not be confirmed. The treatment, which must be started as soon as possible, was based in conservative measures (drainage, antibiotics and a proper nutrition), given the poor general condition of these patients. Despite all these measures, the prognosis is poor, with two of the three patients dying despite the administration of the treatment. In conclusion, although its frequency is very low, pleural empiema is an extremely severe complication of the sclerotherapy of esophagic varixes. If this complication is suspected, the prognosis depends on a treatment that must be started as soon as possible.

Aged↗
PubMed1992

Anencephaly and limb deficiencies.

Limb deficiencies (LDs) are rarely reported in anencephalic infants. A review of 662 patients in the literature on non-neural defects in anencephaly only showed five patients with LDs. We report on eight patients with various LDs from the records of 141 necropsies of the anencephalic infants found among 495,830 births. Compared with another group of anencephalic infants reported in the literature, the patients in this group of anencephalic infants with LDs were predominantly male, their mean gestational age was younger by approximately 5 weeks, their mean birth-weight was approximately 1,400 g less, and they presented with a higher incidence of polyhydramnios during gestational development. The association of this pair of anomalies, which was 100 times more frequent than expected, seems not due to chance. Since all eight patients had other multiple congenital anomalies (MCA), in addition to anencephaly and LDs, the postmortem study should be mandatory in anencephalic infants with LDs. The most common associated anomalies were cardiovascular and renal defects. Oral clefts, diaphragmatic hernia, esophageal atresia, and imperforate anus were also observed in these infants. The recognition of LDs in anencephalic infants indicates severe and extensive disturbance of the early embryogenesis (blastogenesis), which affects the midline of the embryo.

Anencephaly↗
PubMed1992

Craniorachischisis totalis and sirenomelia.

We report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the "axial mesodermal dysplasia spectrum" and may be related to the midline developmental field concept.

Adult↗
PubMed1992

Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses.

In order to investigate the transverse growth of the long bones during intrauterine development in the fetal akinesia deformation sequence (FADS), we studied curarized rat fetuses. Curarization was performed by daily subcutaneous administration of D-Tubocurarine from day 17 of gestation until term. Experimental fetuses were compared with a sham-operated control group. The total area and perimeter, the absolute and relative amount of periosteum and bone trabeculae, the major and minor axes, and the elongation factor were measured from histological cross-sections of the femoral metaphysis and diaphysis using an IBAS 1 image analysis system. Curarized rat fetuses showed growth retardation, a short umbilical cord, and multiple articular contractures, a phenotype consistent with FADS. Alterations in femoral shape and transverse growth that affected the diaphysis were noted in these fetuses. These included a decrease of total cross-section area and reduction of the absolute and relative amounts of bone trabeculae with marked thinning of the periosteum. Femoral cross-sections was rounder than controls. These results evidenced an impairment of the membraneous (periosteal) ossification of long bones produced by immobilization and/or decrease of muscular strength, and support our previous clinical findings of bone hypoplasia and osteopenia in FADS.

Animals↗