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Biomedical subjects

A M Andrés

Publications and source records attributed to A M Andrés.

8 recordsLinked to original sources

[Surgical management of cutaneous and musculoskeletal complications in fulminant sepsis].

INTRODUCTION: Surgical management of purpura fulminans is required as in the acute as in the sequelae period. A retrospective case review of these sequelae, procedures which have been performed in the different moments and the outcomes was undertaken. METHODS AND MATERIALS: We reviewed retrospectively 13 patients treated in our hospital from 1993 to 2003. 8 males and 5 females, with a median age of 2 years old (4 days-14 years) were managed. 70% were meningococcical. The most common areas were low extremities (92%), upper extremities (76%), lips (n=1), nose (n=1) and genitalia (n=1). Most of cases were bilateral (n=11) although two patients presented isolated affectation in one of the extremities. The procedures were classificated depending on the surgical moment. Clinical follow-up was attempted on all surgical patients; we evaluated the aesthetic, functional and psychosocial outcomes. RESULTS: One child died along the first 24 hours; 11 required early surgery and all of them required late interventions. 50% in the serie had necrosis over 15%. In Intensive Care Unit, it was necessary to do 6 fasciotomies (extirpating muscle in 2) and escharectomies and debridements in 8. Early amputations were made in 2 patients: both of them required ampliation in the following days. The cutaneous defects were covered with skin allografts and artificial dermis. During the sequelae period, 8 amputations were necessary (the four extremities in one case). Other procedures were coverage with autologous skin grafting (n=7), Zplasties, Wplasties (n=5), myocutaneous flaps (n=3), release of contractures (n=3) and osseus resection (n=5). There were skeletal growth disturbances which were managed with osteotomies (n=3), realineations(n=3), application of Ilizarov (n=2) and Hoffman (n=2) frames; Nowadays, 6 patients have a complete independent functionning with the use of orthotics (n=3) and prosthetics (n=3) CONCLUSION: The pediatric surgeon has an important role in management and prevention of complications in patients with purpura fuminans. Urgent actuation and close follow-up decreases the morbidity; furthermore, the early reparation of sequelae improves their adaptation in school, in the family and in the society despite the physical disability.

Acute Disease↗

[Venous malformations. Diagnosis and treatment during the childhood].

INTRODUCTION: Congenital venous malformations are the most common slow-flow vascular abnormalities during childhood. Although they are usually present at birth, clinical evidence often appear during late childhood. This type of malformations do not disappear, and they grow progressively during years. PATIENTS AND METHODS: We present a retrospective study based on the medical records of 72 patients treated in our Department during the last 15 years. Patients' age at the diagnosis was 5 days to 26 years. Male-female relationship was 2:1. The most frequent locations were Upper and lower extremities, followed by head and neck. We do not include in this study those patients with mixed lesions involving CNS or abdomen. RESULTS: Main symptoms were: pain, 60%; thrombophlebitis, growing size of the extremities, dermis lesions, osseous dystrophy and chronic coagulopathy. Symptoms worsening was related to trauma, infections and hormonal changes. Clinical course was the clue for the diagnosis. Eco-doppler was useful to study the flow of the lesion. MRI was employed to determinate the limits of the lesion. We did not perform arteriography, and phlebography was used as a diagnostic and therapeutic tool. Plain X-rays showed phleboliths in most of patients and osseous changes in a group of six patients. Treatment was conservative and palliative using elastic stockings, pain therapy and thromboembolism prophylaxis. This was the only treatment in irresectable lesions and in those cases without functional abnormalities. Surgery and sclerotherapy were the main curative treatments. Sclerotherapy was employed in cases of intramuscular and in delimited lesions. Ethanol and Ethibloc (Sodic Amidotrozoate) were the sclerosant agents. We performed surgery in cases of cutaneous complications, localized muscular lesions and in cases of recurrences after sclerotherapy. Ablative surgery was followed by reconstructive attempts using cutaneous and dermal artificial grafts. CONCLUSIONS: Congenital venous malformations must be diagnosed and treated during childhood. Conservative and resective treatments are useful in different cases. Accurate diagnosis and treatment improve long term results.

Adolescent↗

[Cardiac function alterations in pectus excavatum].

BACKGROUND: Cosmetic deformity and psychological repercusion are the main surgical indications in pectus excavatum. However cardiopulmonary function is subclinically abnormal in some patients. The goal of this paper is to demonstrate that heart response during physical activity improves after surgical correction of pectus excavatum. PATIENTS AND METHODS: Fifty five patients were operated upon for pectus excavatum during the last 10 years at our institution. Baseline ecocardiography and isometric effort test (Handgrip) were preoperatively performed in 15 patients (11 males and 4 females) aged from 6 to 15 years (median 9,63). An increase below 12% in cardiac index was considered as positive. In those patients with positive tests, a new test was made 6 months after surgical correction. Pre and postoperative results were compared using non-parametric tests. RESULTS: Baseline cardiac index values were normal in all cases (11). Four patients were not included, 2 because of no collaboration (aged 6 and 7 years) and 2 because difficult ecocardiography interpretation (both operated upon for congenital diaphragmatic hernia). Overall, preoperative test was negative in 6 patients and positive in the remaining 5. Postoperative test was made in these 5 patients, and all of them showed an improvement in cardiac index (medium 40,6%, range 25-70) when compared to preoperative values. There was statistically significant association between test values and patient ages. CONCLUSIONS: Baseline cardiac index values were normal in children with pectus excavatum, albeit 45,5% of them showed a limited response to exercise. Pectus excavatum repair improves these values, so physiopathological indication as well as cosmetic one should be considered specially in children.

Adolescent↗

Variation of the prion gene in chimpanzees and its implication for prion diseases.

In humans, familial prion diseases are linked to mutations in the PRNP gene. We have sequenced part of this gene in a large sample of common chimpanzee, Pan troglodytes (n=130 chromosomes). No variation in codons 129 and 219 has been observed: all chimpanzees were homozygous for the Met allele, which in humans increases susceptibility to Creutzfeldt-Jakob disease. We found two sequence variants: one is a synonymous polymorphism unique to the chimpanzee at codon 226, TAC to TAT (Y), with a TAC allele frequency of 80.6%; the other is a non-synonymous change at codon 148 (R148H) that falls in the target epitope for some common commercial antibodies used for prion diagnostics, and is highly conserved across species. The pathogenicity of this mutation is still unknown.

Amino Acid Sequence↗

Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.

Spinocerebellar Ataxia 8 (SCA8) is a neurodegenerative disorder caused by expansion of a trinucleotide repeat. We undertake a comparative genetic analysis among human populations and primate species in the normal variation range, where forces that shaped present diversity can be recognised. We determinate number of repeats of the short tandem repeat through allele length sizing and sequencing methods. Human allele distributions are very similar among populations, ruling out ethnicity as a genetic risk for allele expansion. Primate comparison shows human-specific features, with longer human alleles due to a novel variable trinucleotide repeat, not present in non-human primates, which increased the disease-causing expansion likelihood. SCA8 seems to be a human specific disease.

Alanine↗

[Evaluation of 4 media for the isolation of Helicobacter pylori from gastric biopsies].

BACKGROUND: Different culture mediums were used for the isolation of Helicobacter pylori. In this study three mediums commonly used for the culture of this microorganism were evaluated: chocolate agar, Martin-Lewis medium and CP of Dent medium as well as a new selective medium Pylori agar. METHODS AND RESULTS: Over a period of 7 months gastric biopsies were collected in 112 patients with clinical manifestations of chronic atrophic gastritis. H. pylori was isolated in some of these mediums on 73 occasions (65.1%). On 72 of the 73 occasions the microorganism grew in the Pylori agar medium (98.6%) being the medium achieving the greatest number of isolations, followed by the CP of Dent medium with 67 isolations (91.7%), 65 isolations with the Martin-Lewis medium (89.0%) and 57 isolations with chocolate agar (78.0%). The chocolate agar medium was that which most frequently presented contaminant flora (35 times: 61.4%) and the CP of Dent medium achieved the most rapid and widespread growth. The colonies were largest and therefore easier to recognize in the CP of Dent and Pylori agar mediums. CONCLUSIONS: The authors recommend the association of the CP of Dent and Pylori agar mediums in the isolation of Helicobacter pylori since these two mediums provide the greatest number of isolations with the greatest growth and ease for colony recognition.

Adult↗