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1.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31679991

RESUMO

OBJECTIVE: Orthopaedic procedures performed in Day Surgery Units provide important advantages which disappear when patients require admission when postoperative recovery is not as expected. The aim of this study was to analyse the reasons for unplanned hospital admissions after orthopaedic procedures in a Day Surgery Unit and their relationship between variables such as patient age, anaesthetic risk and technique, procedure or duration. METHODS: Ambispective cohort study of 5,085 patients who underwent surgical orthopaedic procedures between 1995 and 2017. Thirty-nine variables provided by the Unit's database were analysed. The database was opened on the day of admission and closed the 30th postoperative day. RESULTS: Of the patients, 98.2% were discharged from the Unit. Seventy-four (1.5%) required overnight admission. This percentage showed significant differences in relation to the type of procedure, type of anaesthesia and duration, which conditioned overnight admission due to inadequate postoperative pain management, nausea or wound complications. Seventeen patients (0.3%) required readmission after discharge due to complications that arose at home, such as wound infection, which was the most common. CONCLUSIONS: Unplanned admissions are more frequently related to general anaesthesia, lengthy surgeries and procedures such as arthroscopy, hallux valgus corrections or removal of osteosynthesis material. The major reasons for unplanned admissions were inadequate postoperative pain management for overnight admissions and wound infection for admissions after discharge.


Assuntos
Procedimentos Cirúrgicos Ambulatórios/efeitos adversos , Procedimentos Ortopédicos/efeitos adversos , Admissão do Paciente/estatística & dados numéricos , Complicações Pós-Operatórias/etiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Anestesia/métodos , Anestesia/estatística & dados numéricos , Artroscopia/estatística & dados numéricos , Síndrome do Túnel Carpal/cirurgia , Criança , Remoção de Dispositivo/estatística & dados numéricos , Contratura de Dupuytren/cirurgia , Feminino , Hallux Valgus/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Náusea/etiologia , Duração da Cirurgia , Procedimentos Ortopédicos/estatística & dados numéricos , Dor Pós-Operatória/terapia , Complicações Pós-Operatórias/terapia , Fatores de Risco , Infecção da Ferida Cirúrgica , Traumatologia , Adulto Jovem
2.
An Pediatr (Barc) ; 84(1): 60.e1-13, 2016 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-26589473

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) annually publishes the immunisation schedule which, in our opinion, estimates optimal for children resident in Spain, considering available evidence on current vaccines. We acknowledge the effort of the Ministry of Health during the last year in order to optimize the funded unified Spanish vaccination schedule, with the recent inclusion of pneumococcal and varicella vaccination in early infancy. Regarding the funded vaccines included in the official unified immunization schedule, taking into account available data, CAV-AEP recommends 2+1 strategy (2, 4 and 12 months) with hexavalent (DTPa-IPV-Hib-HB) vaccines and 13-valent pneumococcal conjugate vaccine. Administration of Tdap and poliomyelitis booster dose at the age of 6 is recommended, as well as Tdap vaccine for adolescents and pregnant women, between 27-36 weeks gestation. The two-dose scheme should be used for MMR (12 months and 2-4 years) and varicella (15 months and 2-4 years). Coverage of human papillomavirus vaccination in girls aged 11-12 with a two dose scheme (0, 6 months) should be improved. Information for male adolescents about potential beneficial effects of this immunisation should be provided as well. Regarding recommended unfunded immunisations, CAV-AEP recommends the administration of meningococcal B vaccine, due to the current availability in Spanish communitary pharmacies, with a 3+1 scheme (3, 5, 7 and 13-15 months). CAV-AEP requests the incorporation of this vaccine in the funded unified schedule. Vaccination against rotavirus is recommended in all infants. Annual influenza immunisation and vaccination against hepatitis A are indicated in population groups considered at risk.


Assuntos
Esquemas de Imunização , Guias de Prática Clínica como Assunto , Criança , Feminino , Humanos , Lactente , Masculino , Pediatria , Espanha , Vacinação
3.
An Pediatr (Barc) ; 83(1): 63.e1-63.e10, 2015 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-25648960

RESUMO

Vaccinations are one of the main public health tools for the control of vaccine-preventable diseases. If a child is labeled to have had an allergic reaction to a vaccine, the next immunizations will probably be suspended in that child, with the risks involved in this decision. The rate of severe allergic reactions is very low, ranging between 0.5-1/100,000 doses. The causes of allergic reactions to vaccines, more than the vaccine itself, are often due to residual protein components in the manufacturing process, such as gelatin or egg, and rarely to yeast or latex. Most of vaccine reactions are mild, localized at the site of injection, but in some circumstances, severe anaphylactic reactions can occur. If an immediate-type allergic reaction is suspected when vaccinating, or a child allergic to some of the vaccine components has to be vaccinated, a correct diagnosis of the possible allergy has to be made. The usual components of each vaccine should be known, in order to determine if vaccination can be performed safely on the child.


Assuntos
Hipersensibilidade/imunologia , Vacinas/efeitos adversos , Algoritmos , Criança , Árvores de Decisões , Humanos , Hipersensibilidade/diagnóstico
4.
An Pediatr (Barc) ; 82(1): 44.e1-44.e12, 2015 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-25554656

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Paediatrics updates the immunisation schedule every year, taking into account epidemiological data as well as evidence on the safety, effectiveness and efficiency of current vaccines, including levels of recommendation. In our opinion, this is the optimal vaccination calendar for all children resident in Spain. Regarding the vaccines included in the official unified immunization schedule, the Committee emphasizes the administration of the first dose of hepatitis B either at birth or at 2 months of life; the recommendation of the first dose of MMR and varicella vaccine at the age of 12 months, with the second dose at the age of 2-3 years; DTaP or Tdap vaccine at the age of 6 years, followed by another Tdap booster dose at 11-12 years old; Tdap strategies for pregnant women and household contacts of the newborn, and immunization against human papillomavirus in girls aged 11-12 years old with a 2 dose scheme (0, 6 months). The Committee reasserts its recommendation to include vaccination against pneumococcal disease in the routine immunisation schedule, the same as it is being conducted in Western European countries. The recently authorised meningococcal B vaccine, currently blocked in Spain, exhibits the profile of a universal vaccine. The Committe insists on the need of having the vaccine available in communitary pharmacies. It has also proposed the free availability of varicella vaccines. Their efectiveness and safety have been confirmed when they are administred from the second year of life. Vaccination against rotavirus is recommended in all infants. The Committee stresses the need to vaccinate population groups considered at risk against influenza and hepatitis A.


Assuntos
Esquemas de Imunização , Vacinas/administração & dosagem , Adolescente , Algoritmos , Criança , Pré-Escolar , Árvores de Decisões , Humanos , Lactente , Recém-Nascido , Espanha
5.
An Pediatr (Barc) ; 82(3): 198.e1-9, 2015 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-25304451

RESUMO

Meningococcal invasive disease, including the main clinical presentation forms (sepsis and meningitis), is a severe and potentially lethal infection caused by different serogroups of Neisseria meningitidis. Meningococcal serogroup B is the most prevalent in Europe. Most cases occur in children, with a mortality rate of 10% and a risk of permanent sequelae of 20-30% among survivors. The highest incidence and case fatality rates are observed in healthy children under 2-3 years old, followed by adolescents, although it can occur at any age. With the arrival in Spain of the only available vaccine against meningococcus B, the Advisory Committee on Vaccines of the Spanish Association of Paediatrics has analysed its preventive potential in detail, as well as its peculiar administrative situation in Spain. The purpose of this document is to publish the statement of the Committee as regards this vaccination and the access to it by the Spanish population, taking into account that it has been only authorized for people at risk. The vaccine is available free in the rest of Europe for those who want to acquire it, and in some countries and regions it has been introduced into the systematic immunisation schedules. The Committee considers that Bexsero® has a profile of a vaccine to be included in the official schedules of all the Spanish autonomous communities and insists on the need for it to be available in pharmacies for its administration in all children older than 2 months.


Assuntos
Meningite Meningocócica/prevenção & controle , Vacinas Meningocócicas , Neisseria meningitidis Sorogrupo B , Criança , Europa (Continente) , Humanos
6.
An Med Interna ; 20(4): 195-7, 2003 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-12768834

RESUMO

Tumours originating in peripheric nerves usually appear in patients with neurofibromatosis (NF) signs, presenting frequent combinations of tumours in nerves and cutaneous lesions. Nevertheless, this association is very rare in cases without NF. Therefore, the aim of the present article is to present a case of malignant melanoma and malignant schwannoma, without any described NF. A 69-year-old woman with antecedents of malignant melanoma diagnosed two years previously in the dorsum of the fifth finger of the left hand, treated by means of amputation of the finger. The patient presented a malignant epithelioid schwannoma adhered to the median nerve that required elbow amputation. One month later lung metastases appeared and the patient died. This case presented no known NF sign. However, a relationship must be searched for in the common origin of melanoma and schwannoma from the embryonic neural crest.


Assuntos
Neuropatia Mediana/patologia , Melanoma/patologia , Segunda Neoplasia Primária , Neurilemoma/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias Cutâneas/patologia , Idoso , Evolução Fatal , Feminino , Humanos
7.
An Med Interna ; 20(4): 187-90, 2003 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-12768832

RESUMO

An increase of the incidence of osteonecrosis in subjects infected with the HIV has been reported. It is unknown if osteonecrosis is an HIV infection consequence, or just the consequence of so many risk factors present among HIV infected subjects. We report five osteonecrosis cases found in our series of 534 HIV patients, and we review the related bibliography. All cases have some conventional risk factor different to the HIV or the antiviral treatment. We can't conclude antiviral treatments are not involved in osteonecrosis, but they have been the only risk factor in none of our patients.


Assuntos
Infecções por HIV/complicações , HIV-1 , Osteonecrose/etiologia , Adulto , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteonecrose/diagnóstico , Osteonecrose/epidemiologia , Fatores de Risco , Espanha/epidemiologia
8.
An Pediatr (Barc) ; 80(1): 55.e1-55.e37, 2014 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24412025

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) updates the immunisation schedule every year, taking into account epidemiological data as well as evidence on safety, effectiveness and efficiency of vaccines. The present schedule includes levels of recommendation. We have graded, as routine vaccinations, those that the CAV-AEP consider all children should receive; as recommended those that fit the profile for universal childhood immunisation and would ideally be given to all children, but that can be prioritised according to the resources available for their public funding; and as risk group vaccinations those that specifically target individuals in special situations. Immunisation schedules tend to be dynamic and adaptable to ongoing epidemiological changes. Based on the latest epidemiological trends, CAV-AEP recommends the administration of the first dose of MMR and varicella vaccines at age 12 months, with the second dose at age 2-3 years; the administration of DTaP or Tdap vaccine at age 4-6 years, always followed by another Tdap dose at 11-12 years; and the three meningococcal C scheme at 2 months, 12 months and 12 years of age. It reasserts its recommendation to include vaccination against pneumococcal disease in the routine immunisation schedule. The CAV-AEP believes that the coverage of vaccination against human papillomavirus in girls aged 11-12 years must be increased. Universal vaccination against varicella in the second year of life is an effective strategy, and the immediate public availability of the vaccine is requested in order to guarantee the right of healthy children to be vaccinated. Vaccination against rotavirus is recommended in all infants due to the morbidity and elevated healthcare burden of the virus. The Committee stresses the need to vaccinate population groups considered at risk against influenza and hepatitis A. The recently authorised meningococcal B vaccine has opened a chapter of hope in the prevention of this disease. In anticipation of upcoming national and international studies, the Committee recommends the vaccine for the control of disease outbreaks, and insists on the need to be available in pharmacies. Finally, it emphasises the need to bring incomplete vaccinations up to date following the catch-up immunisation schedule.


Assuntos
Esquemas de Imunização , Vacinação/normas , Adolescente , Algoritmos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
9.
An Pediatr (Barc) ; 79(3): 136-41, 2013 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-23428760

RESUMO

OBJECTIVE: To analyse the incidence of thrombosis and obstruction associated with central venous lines (CVL) inserted in critically ill children, and to determine their risk factors. DESIGN: Prospective observational study in a Pediatric Intensive Care Unit in a University Hospital. MATERIAL AND METHOD: An analysis was made of 825 CVL placed in 546 patients. Age, gender, weight, type of catheter (lines, size, and brand), final location of the catheter, mechanical ventilation, type of sedation and analgesia used, initial failure by the doctor to perform CVL catheterization, number of attempts, CVL indication, admission diagnosis, emergency or scheduled procedure, and delayed mechanical complications (DMC). Risk factors for these complications were determined by a multiple regression analysis. RESULTS: A total of 52 cases of DMC, 42 cases of obstruction, and 10 of thrombosis were registered. Obstruction and thrombosis rates were 4.96 and 1.18 per 100 CVL, respectively. The only risk factor independently linked to obstruction was the duration of the CVL (OR 1.05; 95% CI; 1.00-1.10). The number of lines with thrombosis (OR 4.88; 95% CI; 1.26-18.0), as well as parenteral nutrition (OR 4.17; 95% CI; 1.06-16.31) was statistically significant according to bivariate analysis. However, no risk factors for thrombosis were found in the multivariate analysis. CONCLUSIONS: Obstruction and thrombosis of CVL inserted in a Pediatric Intensive Care Unit are relatively common complications. CVL duration is an independent risk factor for any line obstruction.


Assuntos
Obstrução do Cateter/efeitos adversos , Obstrução do Cateter/estatística & dados numéricos , Cateteres Venosos Centrais , Trombose/epidemiologia , Trombose/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica , Masculino , Estudos Prospectivos , Fatores de Risco
10.
An Pediatr (Barc) ; 78(1): 59.e1-27, 2013 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-23228438

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) updates the immunisation schedule every year, taking into account epidemiological data as well as evidence on the safety, effectiveness and efficiency of vaccines. The present schedule includes levels of recommendation. We have graded as routine vaccinations those that the CAV-AEP consider all children should receive; as recommended those that fit the profile for universal childhood immunisation and would ideally be given to all children, but that can be prioritised according to the resources available for their public funding; and as risk group vaccinations those that specifically target individuals in situations of risk. Immunisation schedules tend to be dynamic and adaptable to ongoing epidemiological changes. Nevertheless, the achievement of a unified immunisation schedule in all regions of Spain is a top priority for the CAV-AEP. Based on the latest epidemiological trends, CAV-AEP follows the innovations proposed in the last year's schedule, such as the administration of the first dose of the MMR and the varicella vaccines at age 12 months and the second dose at age 2-3 years, as well as the administration of the Tdap vaccine at age 4-6 years, always followed by another dose at 11-14 years of age, preferably at 11-12 years. The CAV-AEP believes that the coverage of vaccination against human papillomavirus in girls aged 11-14 years, preferably at 11-12 years, must increase. It reasserts its recommendation to include vaccination against pneumococcal disease in the routine immunisation schedule. Universal vaccination against varicella in the second year of life is an effective strategy and therefore a desirable objective. Vaccination against rotavirus is recommended in all infants due to the morbidity and elevated healthcare burden of the virus. The Committee stresses the need to vaccinate population groups considered at risk against influenza and hepatitis A. Finally, it emphasizes the need to bring incomplete vaccinations up to date following the catch-up immunisation schedule.


Assuntos
Esquemas de Imunização , Vacinação , Adolescente , Vacina contra Varicela , Criança , Pré-Escolar , Vacinas contra Hepatite A , Humanos , Lactente , Vacinas contra Influenza , Vacina contra Sarampo-Caxumba-Rubéola , Vacinas Meningocócicas , Neisseria meningitidis Sorogrupo C/imunologia , Vacinas contra Papillomavirus , Vacinas Pneumocócicas , Vacinas contra Rotavirus
11.
An Pediatr (Barc) ; 76(1): 43.e1-23, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22177960

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Pediatrics (CAV-AEP) updates the immunization schedule every year, taking into account epidemiological data as well as evidence on the effectiveness and efficiency of vaccines. The present schedule includes grades of recommendation. We have graded as routine vaccinations those that the CAV-AEP believes all children should receive; as recommended those that fit the profile for universal childhood immunization and would ideally be given to all children, but that can be prioritized according to the resources available for their public funding; and as risk group vaccinations those that specifically target individuals in situations of risk. Immunization schedules tend to be dynamic and adaptable to ongoing epidemiological changes. Nevertheless, the achievement of a unified immunization schedule in all regions of Spain is a top priority for the CAV-AEP. Based on the latest epidemiological trends, the main changes introduced to the schedule are the administration of the first dose of the MMR and the varicella vaccines at age 12 months (12-15 months) and the second dose at age 2-3 years, as well as the administration of the Tdap vaccine at age 4-6 years, always followed by another dose at 11-14 years of age. The CAV-AEP believes that the coverage of vaccination against human papillomavirus in girls aged 11-14 years must increase. It reasserts its recommendation to include vaccination against pneumococcal disease in the routine immunization schedule. Universal vaccination against varicella in the second year of life is an effective strategy and therefore a desirable objective. Vaccination against rotavirus is recommended in all infants due to the morbidity and elevated healthcare burden of the virus. The Committee stresses the need to vaccinate population groups considered at risk against influenza and hepatitis A. Finally, it emphasizes the need to bring incomplete vaccinations up to date following the catch-up immunization schedule.


Assuntos
Esquemas de Imunização , Vacinas/administração & dosagem , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Espanha
12.
An Pediatr (Barc) ; 76(1): 44.e1-5, 2012 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-22154734

RESUMO

The Advisory Committee on Vaccines of the Spanish Association of Paediatrics establishes annual recommendations on influenza vaccination in childhood before the onset of influenza season. Routine influenza vaccination is particularly beneficial when the strategy is aimed at children older than 6 months of age with high-risk conditions and their home contacts. The recommendation of influenza vaccination in health workers with children is also emphasized.


Assuntos
Vacinas contra Influenza , Influenza Humana/prevenção & controle , Adolescente , Criança , Pré-Escolar , Humanos , Lactente
13.
An Pediatr (Barc) ; 74(2): 132.e1-132.e19, 2011 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-21215719

RESUMO

The Advisory Committee on Vaccines of the Spanish Paediatric Association updates annually the immunization schedule, taking into account epidemiological data as well as evidence of the effectiveness and efficiency of vaccines. This vaccination schedule includes grades of recommendation. The committee has graded as universal vaccines those that all children should receive, as recommended, those with a profile of universal vaccines of childhood and as are desirable those that all children may receive, but that can be prioritized based on public funding resources and for risk groups, targeting those groups of people in epidemiological situations of risk. The Committee considers as a priority to achieve a common immunization schedule for Spain. The Committee reaffirms the recommendation to include pneumococcal vaccination in the routine vaccination schedule. Vaccination against varicella in the second year of life is an effective strategy and therefore a desirable goal. Given the morbidity and high burden on the health care system, vaccination against rotavirus is recommended for all infants. Due to the current problems of availability of both vaccines, associated with the recent finding of circovirus, the committee urges that rotavirus vaccination is restarted as soon as possible as it is considered a desirable health benefit for all children in our country. The Committee adheres to the recommendations of the National Health Coordination Council in reference to routine vaccination against HPV for all girls aged 11 to 14 years and stresses the need to vaccinate all patients with risk factors for these diseases against influenza and hepatitis A. Finally, it stresses the need to update incomplete immunizations using accelerated immunization schedules.


Assuntos
Esquemas de Imunização , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
14.
An Pediatr (Barc) ; 72(6): 433.e1-17, 2010 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-20457016

RESUMO

The Vaccine Advisory Committee of the Spanish Association of Paediatrics updates annually, the immunization schedule, taking into account epidemiological data, as well as evidence of the effectiveness and efficiency of vaccines. This vaccination schedule includes grades of recommendation. The committee has graded as universal vaccines those that all children should receive, as recommended those with a profile of universal vaccination in childhood and which are desirable that all children receive, but that can be prioritized based on resources for its public funding and for risk groups those targeting groups of people in situations of epidemiological risk. The Committee considers as a priority to achieve a common immunization schedule. The Committee reaffirms the recommendation to include pneumococcal vaccination in the routine vaccination schedule. Vaccination against varicella in the second year of life is an effective strategy and therefore a desirable goal. Vaccination against rotavirus is recommended for all infants given the morbidity and high burden on the health care system. The Committee adheres to the recommendations of the Interterritorial Council of the National Health Care System in reference to routine vaccination against HPV for all girls aged 11 to 14 years and stresses the need to vaccinate against influenza and hepatitis A all patients with risk factors for these diseases. Finally, it stresses the need to update incomplete immunization schedules using accelerated immunization schedules.


Assuntos
Esquemas de Imunização , Adolescente , Vacina contra Varicela/administração & dosagem , Criança , Pré-Escolar , Humanos , Lactente , Vacinas Pneumocócicas/administração & dosagem , Vacinas contra Rotavirus/administração & dosagem
15.
Rev Clin Esp ; 187(6): 280-3, 1990 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-2091091

RESUMO

We studied four groups of one hundred patients older than forty years. A group with radiological signs of cervical arthrosis was statistically compared with another one without such signs. There was no significant difference between the two groups with regard to the presence of vertebrobasilar insufficiency. Then we compared one hundred patients diagnosed of vertebrobasilar insufficiency with another group without this disease. When cervical arthrosis cases in these two groups were statistically compared, we could not find any significant differences. We think cervical arthrosis is not an important etiologic factor in vertebrobasilar insufficiency. Our results point to atherosclerotic lesions as the main cause of this entity.


Assuntos
Vértebras Cervicais , Artropatias/complicações , Insuficiência Vertebrobasilar/etiologia , Idoso , Vértebras Cervicais/diagnóstico por imagem , Feminino , Humanos , Artropatias/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Radiografia , Espanha/epidemiologia , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/diagnóstico por imagem , Insuficiência Vertebrobasilar/epidemiologia
16.
Neurologia ; 15(2): 81-4, 2000 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-10769537

RESUMO

We present the case of a 40-year-old man that presented a fast growing tumour on the external side of the left elbow. The tumour was extirpated by means of marginal exerectomy. The microscopic study corresponded to epithelioid malignant schwannoma, and the patient received radiotherapy and adjuvant chemotherapy. During the following years two local recidives and two new malignant schwannomas, one in the left sciatic common trunk and another paraspinal one, appeared and were extirpated. Radiotherapy and chemotherapy were again administered. In the last year, four new tumours have appeared: in the supraclavicular space, right posterior costofrenic, left costovertebral, and in the inferior abdominal wall, none of them has been extirpated or has hystologic diagnosis at the moment, however radiologic findings suggest malignant schwannomas. In this moment there is no neurologic deficiency except for the secondary ones to surgical procedures, and no neurofibromatosis types I to VII signs have been observed. So, the possibility of a new neurofibromatosis type is appointed.


Assuntos
Neurilemoma/patologia , Neurofibromatose 1/diagnóstico , Neoplasias do Sistema Nervoso Periférico/patologia , Adulto , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino
17.
An Esp Pediatr ; 27(1): 53-5, 1987 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-3662255

RESUMO

A new case of metatropic dysplasia in a 2.5 month old child is presented. Diagnoses was made in base of special face, long thorax, shortness of extremities with restricted joint mobility, kyphoscoliosis and a caudal appendage overlying the sacrum. Radiologically, expanded and irregular metaphyses of shortened tubular bones, platyspondyly and kyphoscoliosis. With growth, patients develop changes in body proportions. This syndrome is transmitted as an autosomal recessive. Prevention by genetic counseling is the principal measure.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Humanos , Lactente , Masculino , Radiografia
18.
An Esp Pediatr ; 25(5): 329-34, 1986 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-3813225

RESUMO

In four families with mental retardation as cardinal sign, authors found 11 cases of fragile chromosome X, 8 males (most with severe mental deficiency), and 3 females (mothers of affected children). Association of behavior perturbation as uneasiness, and hyperkinesia; facial dysmorphism as long or triangular face, big ears and macroorchidism, postpubertal in most of the cases, allow for clinical diagnosis. Autistic behavior is a suspicion sign too. Authors point out the necessity of a precocious diagnosis in order to treat patients with folic acid and to extend genetic counseling to the families. Prenatal identification is possible and inheritance mode in uncertain, debating recessive form linked to chromosome X and autosomic dominant controlled by sex. Incidence of 1.8/1,000 in newborn males, convert this specific form as the most frequent cause of mental retardation in this sex.


Assuntos
Fragilidade Cromossômica , Deficiência Intelectual/genética , Cromossomo X , Ligação Genética , Humanos , Masculino , Linhagem , Fenótipo
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