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Biomedical subjects

E Pérez Ruiz

Publications and source records attributed to E Pérez Ruiz.

15 recordsLinked to original sources
PubMed2005

[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase].

We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.

Child, Preschool↗
PubMed2004

[Flexible bronchoscopy in children: Indications and general considerations].

There is considerable interhospital variability in the practice of flexible bronchoscopy in children. The present report aims to provide some recommendations that are supported by the Spanish Society of Pediatric Pulmonologists. We review the indications, contraindications, equipment, setting and personnel involved in flexible bronchoscopy, as well as the pre-procedure preparation of the patient, medications, post-procedure monitoring, complications, care and maintenance of instruments, and informed consent. These recommendations may be adopted, modified or rejected according to clinical needs and constraints.

Anesthesia↗
PubMed2003

[Techniques and complementary techniques. Fiberoptic bronchoscopy in mechanically ventilated children].

Fiberoptic bronchoscopy can be performed at the patient's bedside. This technique allows direct visualization of the upper and lower airways up to the segmental and subsegmental bronchi. Its most frequent indications are airway examination ot evaluate damage produced by toxins or the endotracheal tube, patency of the endotracheal tube and extubation failure. It is also used to obtain microbiological samples, facilitate intubation when difficult, aspirate airway sections or mucus plugs, perform bronchoalveolar lavage and administer drugs. With prior preparation, adequate monitoring and sedation, material according to the size of the patient and correct techniques, there are few complications. However, the procedure can produce trauma and obstruction of the airway, bronchial hemorrhage, barotrauma, loss of alveolar recruitment, bronchospasm, hypoxemia, bradycardia, and bronchopulmonary infection.

Bronchi↗
PubMed2002

[Nijmegen breakage syndrome associated with pulmonary lymphoma].

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.

Cell Cycle Proteins↗
PubMed2001

[Pleurodesis with tetracyclines after fontan operation].

Chemical pleurodesis consists of the fusion of both pleural layers after contact with certain substances, and is used in the treatment of prolonged or recurrent pleural effusions refractory to other therapeutic approaches. This procedure has been extensively used in adults with malignant pleural effusion but has rarely been used in children. The Fontan technique is used in the treatment of tricuspid atresia and other heart diseases that act as a single ventricle. This technique frequently presents complications due to fluid retention (edema, ascites, pleural and pericardial effusions and protein-losing enteropathy). With persistent or recurrent pleural effusion, chemical pleurodesis through the drainage tube might constitute a safe and reliable alternative treatment. We report the case of a female patient with tricuspid atresia, who presented recurrent pleural effusion after undergoing the Fontan procedure. The disorder was resolved by chemical pleurodesis with tetracycline.

Child↗
PubMed1999

[Usefulness of fiberoptic bronchoscopy in critical pediatric care].

UNLABELLED: Fiberoptic bronchoscopy (FB) is being applied increasingly in pediatrics as a therapeutic and diagnostic technique. OBJECTIVE: To analyze the contribution of FB to the diagnosis and treatment of respiratory disease in patients admitted to the pediatric intensive care unit (PICU). PATIENTS AND METHOD: We reviewed FB performed with 3.5 and 2.2 mm external diameter instruments between January 1989 and October 1998 in patients admitted to the PICU. Underlying disease and purpose of and indications for FB were analyzed. We also analyzed route of insertion, findings of airway inspection and bronco-alveolar lavage (BAL), complications and the contribution of FB to patient management. RESULTS: A total of 51 procedures in 47 patients aged between ten days and 12 years old were performed. Twenty-one children (41%) were under one year old. The initial indications for FB were diagnostic in 73% and therapeutic in 27%. Airway inspection showed abnormality in 65%. BAL was performed in 18 cases, with microbiological findings in 8 of the 18. The patients benefited directly from the technique in 75% of cases. CONCLUSIONS: FB is useful diagnostic and therapeutic procedure in PICU patients and is generally well tolerated.

Age Factors↗
PubMed1998

[Pulmonary symptoms of primary immunodeficiency diseases].

OBJECTIVE: Patients who lack major components of the immune system carry an increased risk for severe and recurrent pulmonary infections at those respiratory sites were the deficient component would, in the normal state, have its greatest concentration. We report different pulmonary manifestations in pediatric patients with primary immunodeficiency disease (PID). PATIENTS AND METHODS: We studied 44 children younger than 14 years old, who were diagnosed of PID in our pediatric department between January 1990 and May 1996. RESULTS: Antibody deficiencies were the most frequent disorders (27/44; 61.3%) followed by PID associated with or secondary to other disorders (10/44; 22.7%) and defects of phagocyte function (5/44; 11.3%). Twenty-seven patients (61.3%) showed relevant pulmonary manifestations that required assistance in the division of pediatric pulmonology. Bronchial responsiveness was seen in 17/27, 11/27 had recurrent pneumonias with development of bronchiectasis in 7/27. Opportunistic or severe pneumonias leading to acute respiratory failure were diagnosed in 9/27. Necrotizing pneumonias leading to development of pneumatoceles, cavities or abscesses was seen in 3/27 with the same rate for lymphoid interstitial pneumonia. Respiratory symptoms were the first manifestations of PID in 19/27 (70.3%). CONCLUSIONS: The findings of the study emphasize the responsibility of the pediatric pulmonologists in avoiding the delayed diagnosis of PID since the prognosis depends on the precocity of diagnosis.

Child↗
PubMed1996

[Endoscopic evaluation of endobronchial tuberculosis in children].

The aim of this study was to determine the role of fiberoptic bronchoscopy (FB) in pulmonary tuberculosis in children. We assessed bronchoscopic findings of 36 procedures performed in 30 children who presented the following abnormalities on chest films: lobular or segmentary atelectasis (17), paratracheal or parahilar adenopathies (14), parenchymatous consolidation (9) and localized hyperinflation (5). Premedication for FB included intravenous atropine and diazepam plus ketamine for sedation, as well as lidocaine 2 and 5% in aerosol form for topical anesthesia. FB results showed that involvement was endobronchial in 29 patients. In the 18 patients with X-rays suggestive of endobronchial tuberculosis (EBT), the diagnosis was confirmed by FB. Significantly, EBT was found by FB in 11 (36.6%) patients with no clinical or radiological signs of such involvement. EBT was in the early stages in 3 (10%) patients and was advanced in 8 (26.6%). M. tuberculosis was isolated in 9 (30%) of the 30 patients. Culture was of bronchoalveolar lavage in three, of gastric lavage in four and of endobronchial biopsy in two. We conclude that FB is a safe, important tool for the confirmation of EBT in the management of pulmonary tuberculosis in children. It serves as a guide for the start of steroid treatment, especially in children with no radiological suggestion of EBT.

Age Factors↗
PubMed1996

[Acute respiratory failure secondary to Pneumocystis carinii pneumonia in children].

OBJECTIVE: The objective of this study was to ascertain the clinical and epidemiological characteristics of Pneumocystis carinii pneumonia (PCP) cases admitted to the Pediatric Intensive Care Unit (PICU). PATIENTS AND METHODS: A retrospective study was carried out on the 8 PCP cases admitted to the PICU from July 1991 to September 1994. The variables studied were: age, sex, geographic origin, associated pathology, immunological status, clinical manifestations, biochemical data, radiology, findings in bronchoalveolar lavage fluid (BAL), response to therapy and clinical follow-up. RESULTS: Age of the patients varied between 3 months and 9 years and there were 5 males and 3 females. Associated pathologies included AIDS (4 cases), severe combined immunodeficiency (SCID), Job's syndrome, and immunodeficiencies secondary to non-Hodgkin's lymphoma (NHL) and acute lymphoid leukemia (ALL), one case of each. Four cases appeared in a 22 day period. All cases but one suffered acute respiratory failure and needed mechanical ventilation. Diagnosis was established by means of BAL in every case. All cases showed a bilateral diffuse alveolo-interstitial pattern on chest films. Treatment was trimethoprim-sulfamethoxazole. In the acute illnesses, 2 patients died (cases of terminal SCID and NHL). CONCLUSIONS: To date, epidemic presentation of PCP has not been reported in our community. Four of our cases, with no demonstrable previous relation, appeared over a short period of time. We have not found a relationship between LDH levels and severity, as expressed by mechanical ventilation time. Every AIDS case survived the acute episode and CD4 counts were normal in most cases.

Child↗