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Biomedical subjects

N Alonso

Publications and source records attributed to N Alonso.

At least 19 recordsLinked to original sources
PubMed2006

Surgical treatment of esophageal leiomyoma: an analysis of our experience.

INTRODUCTION: leiomyoma is the most common benign esophageal neoplasm. Surgical treatment (enucleation) has traditionally been the therapy of choice. The advent of minimally invasive techniques has produced an increase in endoscopic approaches to the detriment of open surgery. OBJECTIVE: the aim of this study was to compare the results obtained with open surgery and with laparoscopic surgery in this kind of pathology. MATERIAL AND METHODS: we performed a retrospective study of all leiomyomas operated for in our center between 1986 and 2004, and obtained 9 cases of esophageal leiomyoma. Four were women and five men, between the ages of 40 and 70, with a mean age of 53.5 years. The most frequent symptoms were heartburn (5 cases), dysphagia (3 cases), and retrosternal pain (3 cases). Surgery was in all the cases an enucleation. An open approach was performed in 5 cases (3 thoracotomies and 2 laparotomies), and an endoscopic approach in 4 (2 thoracoscopies and 2 laparoscopies). RESULTS: the mean postoperative hospital stay was 5.12 days (range 2-8 days). This was shorter for endoscopic approaches versus open surgery (3.25 vs. 7 days). There was no case of esophageal mucosal perforation or reconversion. No death, intraoperative complication, or tumor relapse was described. Only 2 patients had complications: post-surgical thoracic pain, and intestinal obstruction by adhesions 8 years after surgery. CONCLUSION: enucleation is an easier procedure and constitutes the therapy of choice for esophageal leiomyoma. This approach has to be laparoscopic. We think that muscle borders should be closed after enucleation, and that biopsy is not indicated preoperatively.

Adult↗
PubMed2005

Lack of deleterious effect on bone mineral density of long-term thyroxine suppressive therapy for differentiated thyroid carcinoma.

The effect of subclinical hyperthyroidism on bone mineral density is controversial and could be significant in patients with differentiated thyroid carcinoma who receive suppressive doses of levothyroxine (LT4). To ascertain whether prolonged treatment with LT4 to suppress thyrotropin had a deleterious effect on bone mineral density and/or calcium metabolism in patients thyroidectomized for differentiated thyroid cancer we have performed a cross-sectional study in a group of 88 women (mean +/- SD age: 51 +/- 12 years) treated with LT4 after near-total thyroidectomy and in a control group of 88 healthy women (51 +/- 11 years) matched for body mass index and menopausal status. We determined calcium metabolism parameters, bone turnover marker N-telopeptide and bone mass density by dual-energy X-ray absorptiometry. No differences were found between patients and controls in calcium metabolism parameters or N-telopeptide except for PTH, which was significantly increased in controls. No differences were found between groups in bone mineral density in femoral neck (0.971 +/- 0.148 gr/cm(2) vs 0.956 +/- 0.130 gr/cm(2) in patients and controls respectively, P = 0.5). In lumbar spine, bone mineral density values were lower in controls than in patients (1.058 +/- 0.329 gr/cm(2) vs 1.155 +/- 0.224 gr/cm(2) respectively, P < 0.05). When premenopausal (n = 44) and postmenopausal (n = 44) patients were compared with their respective controls, bone mineral density was similar both in femoral neck and lumbar spine. The proportion of women with normal bone mass density, osteopenia and osteoporosis in patient and control groups was similar in pre- and postmenopausal women. In conclusion, long-term suppressive LT4 treatment does not appear to affect skeletal integrity in women with differentiated thyroid carcinoma.

Antineoplastic Agents↗
PubMed2005

Acute appendicitis in an incarcerated crural hernia: analysis of our experience.

INTRODUCTION: The finding of the vermiform appendix within a crural hernia (Amyand s hernia) is a rare entity whose incidence is not described in the literature. OBJECTIVE: The aim of this study was to report our hospital s experience in this kind of pathology. MATERIAL AND METHODS: Between 1993 and 2004, 4,572 acute appendicitis and 372 incarcerated crural hernia cases have been operated on in our hospital. We studied 6 cases of incarcerated crural hernia with vermiform appendix inside. We analyzed in retrospect the following parameters: age, sex, personal history, clinical manifestations, preoperative diagnosis, surgical technique, mean hospital stay, and outcome. RESULTS: All patients were women with a mean age of 78.8 years. Most frequent clinical manifestations included pain and a mass in the right inguinocrural region, of variable intensity and duration. No clinical, laboratory, or radiographic signs help in reaching a correct preoperative diagnosis. General anesthesia and a crural approach are used in most surgical operations. In all cases an appendectomy was performed via the hernia sac, thus proving the presence of acute appendicitis in four of them (66.67%). A prosthetic mesh was used in 3 cases, and one case of wound infection was found. In the other cases we sutured the hernia ring using prolene. CONCLUSION: The finding of the appendix in an incarcerated crural hernia is a rare entity in old women that is difficult to diagnose preoperatively. Treatment includes appendectomy and herniorraphy. The use of prosthetic mesh is controversial.

Aged↗
PubMed2004

Evaluation of two replacement regimens in primary adrenal insufficiency patients. effect on clinical symptoms, health-related quality of life and biochemical parameters.

OBJECTIVE: To evaluate clinical symptoms, health-related quality of life (HRQL) and biochemical parameters in patients with primary adrenal insufficiency under treatment with two different hydrocortisone regimens (20 mg-0 mg-10 mg/day and 10 mg-5 mg-5 mg/day), each maintained for 3 months and compare results obtained with those in healthy controls. DESIGN, PATIENTS AND METHODS: Twelve patients with primary adrenal insufficiency were studied. Clinical symptoms and HRQL with the Nottingham Health Profile (NHP) were evaluated and Na, K and serum cortisol determined at 09:00 h, 12:30 h and 17:30 h and urinary free cortisol (UFC) throughout the day. Control group comprised 19 healthy subjects. RESULTS: No differences in specific adrenal insufficiency symptoms were detected between the two regimens. HRQL was worse in energy dimension assessed by the NHP compared to the general population, regardless of 20 mg-0 mg-10 mg/day or 10 mg-5 mg-5 mg/day treatment (p=0.03 and p=0.013). The total NHP score was only adversely affected when patients were on the 10 mg-5 mg-5 mg/day hydrocortisone replacement regimen (p=0.008). Serum cortisol concentrations were higher than controls at 09:00 h, and lower at 17:30 h with both regimens, whereas serum cortisol at 12:30 h and UFC were within the 5th-95th percentile normal range only with the 10 mg-5 mg-5 mg/day regimen. CONCLUSIONS: Patients with primary adrenal insufficiency had worse HRQL in the NHP energy dimension compared with the general population, regardless of the hydrocortisone regimen although total score for HRQL was worse only with the 10 mg-5 mg-5 mg/day regimen. Patients on the thrice-daily hydrocortisone regimen showed a more physiological cortisol profile, leading us to recommend initially treating patients with this dose and increasing it in the case of impaired HRQL.

Addison Disease↗
PubMed2002

Hypersensitivity pneumonitis producing a BOOP-like reaction: HRCT/pathologic correlation.

SUMMARY: The authors report an unusual case of hypersensitivity pneumonitis presenting on high-resolution CT as large and sharply defined nodular opacities caused by extensive bronchiolitis obliterans with organizing pneumonia. Many of the nodules were surrounded by a halo of ground-glass attenuation. To the authors' knowledge, this is the first time these features have been described in association with hypersensitivity pneumonitis.

Adult↗
PubMed2000

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All affected patients were born to consanguineous healthy parents; this finding, together with the equal sex ratio among affected individuals and the occurrence of only normal individuals among their offspring, indicates that the disease in this family is an autosomal recessive (AR) trait. Taking into account the segregation pattern of the disease in the family and the radiological characteristics of two young CTD patients, the most likely diagnosis for the defect is AR craniometaphyseal dysplasia (CMD). CMD is a CTD, with both autosomal dominant (AD) and recessive forms. The description of the present genealogy confirms the AR pattern of inheritance of some cases of CMD and contributes to a better delineation of the clinical spectrum of AR CMD, suggesting a more pronounced diaphyseal involvement in the AR compared with the AD CMD. Through genomewide scanning, we mapped the AR CMD to a 7 cM interval, between D6S302 and D6S1639, at 6q21-22 region. We have also excluded the positional candidate COL10A1 gene as being the responsible for this disorder. Curiously, a form of AR spondylocostal dysplasia (SD) also segregates in the family, including one affected individual with both conditions. The gene DLL3, mapped to 19q13 region, was recently found to be responsible for one form of AR SD; however, we did not find evidence of linkage between this 19q region and the SD segregating in our family, thus implying in genetic heterogeneity for AR SD.

Adult↗
PubMed2000

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias.

DNA Mutational Analysis↗
PubMed2000

Blastoid NK cell leukemia/lymphoma with cutaneous involvement.

Malignant neoplasms from natural killer (NK) cells are characterized by their positivity for CD56 and absence of monoclonal TCR gene rearrangement. Recently, they have been classified into four main types (nasal and nasal-type NK cell lymphoma, aggressive NK cell leukemia/lymphoma, and blastoid NK cell leukemia/lymphoma), based on clinical features, racial predisposition, presence of azurophilic granules, immunophenotype and association with Epstein-Barr virus (EBV) infection. A 72-year-old Caucasian man presented with a malignant neoplasm comprised of blastoid cells without azurophilic granules in the Giemsa stain, with positivity for CD2, CD4, HLA-DR, CD45 and CD56, and negativity for CD3 (surface and cytoplasmic) and CD5. In situ hybridization for EBV and PCR analysis of rearrangement of the T cell receptor gene were negative. Based on these results, a diagnosis of blastoid NK cell lymphoma was made. In this case the first clinical manifestations were the cutaneous lesions, and, although the disease was already advanced at the diagnosis, the patient responded completely to the treatment and remains asymptomatic 14 months after diagnosis.

Aged↗
PubMed1999

[Idiopathic brain herniation in the middle ear and mastoid].

Idiopathic brain herniation into the middle ear and the mastoid process is a rare clinico-pathological entity, with only 41 cases described in the literature. It should be suspected in presence of spontaneous otoliquorrhea/rhinoliquorrhea, refractory serous otitis media, or meningitis following acute otitis media in an adult. A new case is presented, with a brief review of the pathogenesis, clinico-pathological, and radiological characteristics of these lesions.

Cerebrospinal Fluid Otorrhea↗
PubMed1998

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutations in the FGFR1-3 genes. Except for one, all the Apert patients had either S252W (n = 16) or P253R (n = 10) mutations. The remaining Apert case is atypical with a mutation altering the splice site of FGFR2 exon IIIc. The Pfeiffer patients had mutations in one of the FGFR genes: three in FGFR2, one in FGFR1, and one in FGFR3. In contrast, only 8 of the 17 Crouzon patients studied had a mutation in either FGFR2 (n = 7) or FGFR3 locus (n = 1). Mutations in the FGFR2 locus account for most (93%) of our syndromic craniosynostotic cases, whereas 5% had mutations in the FGFR3 locus and only 2% had mutations in the FGFR1 gene. Except for one, all the other mutations were reported previously in craniosynostotic patients from other populations. Interestingly, the mutation C278F, previously described in Crouzon and Pfeiffer cases, was here identified in a familial case with Jackson-Weiss. Also, unexpectedly, a common mutation altering the splice site of the FGFR2 exon IIIc was found in one Apert and two Pfeiffer patients. In addition, we identified a new mutation (A337P) in the FGFR2 exon IIIc associated with Crouzon phenotype.

Acrocephalosyndactylia↗
PubMed1998

Midfacial advancement by bone distraction for treatment of craniofacial deformities.

Craniofaciostenosis is often associated with midfacial hypoplasia and has been treated traditionally using Le Fort advancement osteotomies and bone grafts. The surgical procedure requires a prolonged operating time, several osteotomies with a significant blood loss, and wide surgical exposure. According to the principles of bone lengthening, we performed midfacial advancement by bone distraction in 4 patients with midfacial hypoplasia to reduce the operative time and complication rate. In 2 patients with Crouzon's syndrome we performed a Le Fort III osteotomy and placed the distraction device behind the malar eminence and screwed it on the temporal bone bilaterally. In the other 2 children, with Apert's syndrome, we performed frontal advancement and remodeling before placing the device during the same surgery behind the malar bone without any midfacial osteotomy. It appears to us that patients with more severe deformities will need surgical procedures to offer more satisfactory results. In these patients, distraction is an initial therapy to reduce the severity of the deformity, making it possible to effect a better treatment afterward.

Acrocephalosyndactylia↗
PubMed1996

Screening of medicinal plants for induction of somatic segregation activity in Aspergillus nidulans.

Knowledge about mutagenic properties of plants commonly used in traditional medicine is limited. A screening for genotoxic activity was carried out in aqueous or alcoholic extracts prepared from 13 medicinal plants widely used as folk medicine in Cuba: Lepidium virginicum L. (Brassicaceae): Plantago major L. and Plantago lanceolata L. (Plantaginaceae); Ortosiphon aristatus Blume, Mentha x piperita L., Melissa officinalis L. and Plectranthus amboinicus (Lour.) Spreng. (Lamiaceae); Cymbopogon citratus (DC.) Stapf (Poaceae); Passiflora incarnata L. (Passifloraceae); Zingiber officinale Roscoe (Zingiberaceae); Piper auritum HBK. (Piperaceae); Schinus terebinthifolius Raddi (Anacardeaceae) and Momordica charantia L. (Cucurbitaceae). A plate incorporation assay with Aspergillus nidulans was employed, allowing detection of somatic segregation as a result of mitotic crossing-over, chromosome malsegregation or clastogenic effects. Aspergillus nidulans D-30, a well-marked strain carrying four recessive mutations for conidial color in heterozygosity, which permitted the direct visual detection of segregants, was used throughout this study. As a result, only in the aqueous extract of one of the plants screened (Momordica charantia) a statistical significant increase in the frequency of segregant sectors per colony was observed, and consequently, a genotoxic effect is postulated.

Aspergillus nidulans↗
PubMed1995

Cranial versus iliac onlay bone grafts in the facial skeleton: a macroscopic and histomorphometric study.

We compared autologous bicortical ilial and cranial bone grafts onlaid to the facial skeleton in 60 adult New Zealand rabbits to evaluate the initial phase of incorporation of these grafts. The animals were distributed in two equal groups in which either cranial or iliac grafts were harvested and fixated, devoid of their periosteum, in direct contact with the nasal bone with micro screws. Each of these two groups were then subdivided into three groups, which corresponded to the three times the animals were killed: 18 days, 30 days, and 60 days. The grafts were measured in their linear dimensions and weighed before fixation and after harvesting when the animals were killed. Undecalcified histological sections were prepared, and histomorphometric parameters of bone formation (bone volume, osteoid volume, surface thickness, and osteoblastic surface) and resorption (osteoclastic surface and eroded surface) were measured. The results confirmed those of previous studies in that cortical grafts maintained their volumes to a greater extent than their cancellous counterparts indicating that the remodeling process may be uncoupled in the transplanted iliac grafts. It is postulated that the significant decrease in mechanical stimulus that the cancellous grafts undergo determines this imbalance in the remodeling activity, which results in greater bone resorption than formation and thus decreased volume.

Animals↗
PubMed1995

[Facial fractures. Analysis of 130 cases].

The importance of facial trauma comes from the possibility of leaving serious functional and aesthetic consequences. Since 1990 patients with facial fractures were treated at the Emergency Ward of the Hospital das Clinicas of the Medical Faculty of São Paulo by plastic surgeons. In 24 months, 130 patients with facial fractures were treated there. The main causative factors were motor vehicle accidents (51%) and the main bone fracture was that of mandible (46%). A correlation between the kind of trauma and the kind of fracture is made.

Accidents, Traffic↗
PubMed1992

Assessment of iron status by erythrocyte ferritin in uremic patients with or without recombinant human erythropoietin therapy.

Erythrocyte ferritin may be a better estimator of iron bioavailability than the conventional markers of iron stores (serum ferritin and transferrin saturation). To investigate the accuracy of these conventional markers in uremic patients compared with erythrocyte ferritin, we studied 29 chronic hemodialysis patients on erythropoietin (EPO) therapy, 18 without EPO therapy, and 22 healthy control subjects. Apart from the red blood cell indices, serum ferritin, transferrin saturation, and erythrocyte ferritin, the analytical study included red blood cell protoporphyrin and plasma aluminum levels. The control group showed erythrocyte ferritin concentrations between 8.3 and 12.5 attograms/cell (95% confidence interval). In the EPO group, red blood cell protoporphyrin correlated negatively with erythrocyte ferritin, but not with serum ferritin or transferrin saturation. In the non-EPO group, serum ferritin, erythrocyte ferritin, and transferrin saturation did not correlate with red blood cell protoporphyrin. Even though erythrocyte ferritin correlated well with serum ferritin in the EPO group (r = 0.61, P = 0.0003), the sensitivity of normal serum ferritin levels (30 to 300 ng/mL) to discard a low erythrocyte ferritin concentration (erythrocyte ferritin less than 7 ag/cell) was 0.53, while the sensitivity of serum ferritin at levels less than 30 ng/mL to indicate an absolute iron deficiency expressed as a low erythrocyte ferritin concentration was 0.28. Only values of serum ferritin and transferrin saturation greater than 300 ng/mL and 35%, respectively, could rule out a relative iron deficiency expressed as a low erythrocyte ferritin and high red blood cell protoporphyrin concentration. Plasma aluminum levels did not correlate with red blood cell protoporphyrin or erythrocyte ferritin levels in either uremic group.(ABSTRACT TRUNCATED AT 250 WORDS)

Anemia, Hypochromic↗
PubMed1992

[Transthoracic and transesophageal comparative echocardiography in mitral valve prolapse].

OBJECTIVE: Transthoracic and transesophageal comparative analysis of functional and morphological abnormalities associated to idiopathic mitral valve prolapse (MVP). DESIGN: Prospective study. SETTING: Outpatients with MVP diagnosis referred to echocardiographic laboratory of Cardiology Institute in Madrid, Spain. MATERIAL AND METHODS: In each case we analyzed by TTE and TEE, anterior, posterior and double localization of MVP, number of prolapsed mitral leaflets/patient, total area of MVP to mitral valve plane, mitral annulus diameter, total area and spatial distribution of mitral regurgitation. RESULTS: TEE diagnosed a greater number of prolapsed mitral leaflets and a greater percentage of double (80%) MVP. MPV area by TEE (50 +/- 31 mm2) was considerably larger (96 +/- 30 mm2) than TTE MVP area (50 +/- 31 mm3. Associated mitral valve regurgitation area calculated through TEE was larger (558 +/- 502 mm2) than the same parameter evaluated by TTE (450 +/- 515 mm2). CONCLUSIONS: TEE is an efficient technique in MVP non invasive diagnosis and particularly sensitive to posterior MVP. Our data could be helpful in MVP cases scheduled for mitral valve repairment.

Adolescent↗