RESUMO
BACKGROUND: On-scene management of pre-hospital emergencies is often inter-disciplinary, involving ground-emergency medical services (EMS), police- and fire services, and in Norway general practitioners on-call. This can also be supplemented by physician-staffed EMS (P-EMS), utilizing helicopters or rapid response vehicles. We hypothesized that P-EMS cooperates extensively with other emergency services, and therefore the primary aim of this study was to investigate the fraction of inter-disciplinary cooperation between P-EMS and other emergency services. METHODS: Retrospective, observational study of primary pre-hospital missions with patient contact performed at a Norwegian P-EMS base from 01.01.06 to 31.12.15. Descriptive statistics, comparisons using Student`s t-test, and chi-squared test for trend were applied. RESULTS: Inter-disciplinary cooperation occurred in 94.3% of the 8580 missions, of which physician-staffed EMS cooperated with ground EMS in 92.4%, general practitioner 32.9%, police service 11.6% and fire service 11.8%. Trauma constituted 34.4 and cardiac arrest 14.1% of missions. The mean National Advisory Committee for Aeronautics score was 4.21 (95% Confidence Interval 4.18-4.24). There was an overall decrease in cooperation with general practitioners and the police service (P < 0.001). During helicopter missions, we reported a decrease in general practitioner cooperation compared to an increase during rapid response car missions (P < 0.001). In cardiac arrest cases, cooperation with both general practitioners and the fire service increased (P < 0.001). CONCLUSION: Physician-staffed EMS cooperates extensively with other professional emergency services, especially ground-EMS. On-scene cooperation with general practitioners decreased, whereas there was an increased cooperation with the fire service in a "first-responder" role during cardiac arrest missions.
Assuntos
Serviços Médicos de Emergência , Colaboração Intersetorial , Médicos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Clínicos Gerais , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: All Scandinavian countries provide anaesthesiologist-staffed pre-hospital services. Little is known of the incidence of critical illness or injury attended by these services. We aimed to investigate anaesthesiologist-staffed pre-hospital services in Scandinavia with special emphasis on incidence and severity. METHODS: This population-based, prospective study recorded activity in 16 anaesthesiologist-staffed pre-hospital services in Denmark, Finland, Norway and Sweden serving half of the Scandinavian population. We calculated population incidence of medical conditions, and the proportion of patients with severely deranged vital signs and/or receiving advanced therapy. RESULTS: Four thousand two hundred thirty-six alarm calls were recorded during 4 weeks. Two thousand two hundred fity-six alarms resulted in a patient encounter. The population incidence varied from 74.9 missions per 10,000 person-years (Denmark), followed by Finland with 14.6, Norway with 11, and Sweden with 5. Medical aetiology was most frequent (14.9 missions per 10,000 person-years, 95% CI: 14.2-15.8). Trauma was second (5.6 missions per 10,000 person-years, 95%CI: 5.12-6.09). Twenty-three per cent of patients had severely deranged vital functions, and advanced emergency medical procedures were performed in every four to twelve encounters (Denmark 8%, Sweden 15%, Norway 23%, and Finland 25%). The probability that the patient was physiologically deranged, received advanced medication, or procedure was 35%. Critical illness or injury occured at a rate of 25-30 per 10,000 person-years. CONCLUSIONS: The incidence of pre-hospital anaesthesiologist patient encounters in Scandinavia varies. Medical aetiology is most frequent. Almost one-quarter of patients presents with deranged vital functions requiring emergency measures. The Scandinavian pre-hospital population incidence of critical illness and injury is 25-30 per 10,000 person-years.
Assuntos
Anestesiologia , Serviços Médicos de Emergência , Médicos , Estado Terminal/epidemiologia , Estado Terminal/terapia , Interpretação Estatística de Dados , Dinamarca/epidemiologia , Serviços Médicos de Emergência/estatística & dados numéricos , Finlândia/epidemiologia , Humanos , Incidência , Noruega/epidemiologia , Consumo de Oxigênio , População , Estudos Prospectivos , Países Escandinavos e Nórdicos/epidemiologia , Índice de Gravidade de Doença , Suécia/epidemiologia , Resultado do Tratamento , Sinais Vitais , Recursos Humanos , Ferimentos e Lesões/terapiaRESUMO
Mycotic carotid pseudoaneurysms are rare and challenging to manage. Traditional surgical approaches are technically demanding and can be associated with a high morbidity and mortality. The use of endovascular stents in infected fields remains controversial, and long-term efficacy has not been fully clarified. We describe a case where a combined staged endovascular and open surgical approach was used to successfully manage a mycotic carotid pseudoaneurysm that developed following dental extraction. A covered endovascular stent was used to temporarily exclude the infected pseudoaneurysm, before proceeding to early definitive surgical management. We suggest that staged endovascular therapy followed by early surgical repair should be considered for this difficult surgical problem.
Assuntos
Falso Aneurisma/cirurgia , Aneurisma Infectado/cirurgia , Implante de Prótese Vascular , Doenças das Artérias Carótidas/cirurgia , Veia Safena/transplante , Extração Dentária/efeitos adversos , Idoso , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/microbiologia , Aneurisma Infectado/diagnóstico por imagem , Aneurisma Infectado/microbiologia , Antibacterianos/uso terapêutico , Implante de Prótese Vascular/instrumentação , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/microbiologia , Desbridamento , Humanos , Masculino , Tratamento de Ferimentos com Pressão Negativa , Stents , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
This report describes a case of bacteraemia caused by Anaerobiospirillum succiniciproducens. Anaerobiospirillum succiniciproducens is a rare cause of bacteraemia in humans, and when encountered usually occurs in immunocompromised patients. The organism is an anaerobic, spiral shaped, Gram negative bacillus with bipolar tufts of flagella. In this report, the morphology, with special reference to electron microscopic features, culture characteristics, and antimicrobial susceptibility are described.
Assuntos
Bacteriemia/microbiologia , Bactérias Anaeróbias Gram-Negativas/ultraestrutura , Infecções por Bactérias Gram-Negativas/diagnóstico , Adulto , Bacteriemia/imunologia , Feminino , Bactérias Anaeróbias Gram-Negativas/efeitos dos fármacos , Infecções por Bactérias Gram-Negativas/imunologia , Infecções por Bactérias Gram-Negativas/microbiologia , Humanos , Hospedeiro Imunocomprometido , Testes de Sensibilidade MicrobianaRESUMO
To evaluate the role of optic edge design of 2 silicone intraocular lenses (IOLs) in 2 year clinical results. Department of Ophthalmology, University of Vienna, Medical School, Allgemeines Krankenhaus, Austria. In this comparative clinical study, 50 eyes had phacoemulsification and implantation of a high-refractive 3-piece silicone IOL with sharp optic edges (CeeOn model 911F) (n = 25) or a 3-piece silicone lens with rounded optic edges (CeeOn model 920) (n = 25). Biomicroscopic findings, including those of specular microscopic examination of the anterior lens surface, were documented and the results analyzed. After 2 years, a significant between-group difference in posterior capsule opacification (PCO) but not in anterior capsule alterations was observed. Behind all CeeOn 911F sharp-edge IOLs, the capsule remained clear; in 2 of 23 capsules behind the CeeOn 920 rounded-edge, a neodymium: YAG laser capsulotomy had to be performed for dense central fibrotic PCO. Seven of 21 of the remaining eyes had first-degree central fibrotic PCO, 14 of 23 had peripheral mixed fibrotic and slender Elschnig pearl PCO, and 8 of 23 had second-degree peripheral PCO. Specular microscopic findings did not differ between the 2 groups. No severe IOL decentration occurred in any eye; 25% in the sharp-edge group and 40% in the rounded-edge group had minimal decentration. The silicone IOL with the sharp optic edge design was associated with significantly reduced PCO 2 years postoperatively.
Assuntos
Catarata/etiologia , Cápsula do Cristalino/patologia , Lentes Intraoculares/efeitos adversos , Elastômeros de Silicone/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Materiais Biocompatíveis , Catarata/patologia , Feminino , Seguimentos , Humanos , Terapia a Laser , Cápsula do Cristalino/cirurgia , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Facoemulsificação , Desenho de Prótese , Refração Ocular , Resultado do Tratamento , Acuidade VisualRESUMO
PURPOSE: To evaluate inflammation after clear corneal incision (CCI) cataract surgery in patients with noninsulin-dependent diabetes mellitus and no retinopathy. METHODS: Forty patients with diabetes and 40 age-matched controls had standardized temporal CCI cataract surgery with implantation of a foldable intraocular lens. Anterior chamber flare was evaluated in an undilated eye with a laser flare-cell meter preoperatively and 1, 3, 7, 14, and 28 days postoperatively. RESULTS: In both groups, flare and cell values increased on the first postoperative day and successively decreased on the following days. Flare had not recovered to preoperative values by day 28. At no time was there a significant mean difference in cell and flare between the 2 groups. CONCLUSION: It does not appear necessary to alter the postoperative therapeutic regimen in patients with type 2 diabetes mellitus and no retinopathy.
Assuntos
Catarata/complicações , Diabetes Mellitus Tipo 2/complicações , Implante de Lente Intraocular , Facoemulsificação/efeitos adversos , Uveíte Anterior/etiologia , Idoso , Idoso de 80 Anos ou mais , Câmara Anterior/fisiopatologia , Barreira Hematoaquosa/fisiologia , Retinopatia Diabética/complicações , Feminino , Humanos , Lentes Intraoculares , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Tempo , Uveíte Anterior/fisiopatologiaRESUMO
PURPOSE: To evaluate the influence on postoperative inflammation of lens epithelial cell (LEC) removal after phacoemulsification. SETTING: Department of Ophthalmology, University of Vienna, Vienna, Austria. METHODS: This randomized prospective single-surgeon study comprised 60 patients with senile cataract only. After a temporal clear corneal incision was made and phacoemulsification performed, no LECs were removed in Group A, LECs in the nasal half were removed in Group B, and LECs were removed from the entire anterior capsule in Group C. The LECs were removed with a Rentsch capsule curette (Geuder). In all eyes, a foldable hydrogel intraocular lens (Hydroview, Bausch & Lomb) was implanted. Anterior chamber flare was evaluated through dilated pupils in a double-masked fashion using a Kowa FC-1000 laser flare-cell meter (LFCM). Measurements were done preoperatively as well as 1, 3, 7, 14, and 28 days and 3, 6, 12, and 24 months postoperatively. RESULTS: In all 3 groups, the flare and cell values increased on the first postoperative day followed by a successive decrease thereafter. One month after surgery, the blood-aqueous barrier (BAB) was nearly restored in all groups. Between the first and fourth week, the flare values in Groups B and C were slightly lower than in Group A; however, mean flare and cell values among groups were not statistically significantly different at any measurement. CONCLUSION: The removal of LECs from the anterior capsule with a Rentsch curette did not influence postoperative BAB changes detected using an LFCM.
Assuntos
Células Epiteliais/citologia , Cápsula do Cristalino/cirurgia , Facoemulsificação , Complicações Pós-Operatórias/fisiopatologia , Uveíte Anterior/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Câmara Anterior/patologia , Câmara Anterior/fisiopatologia , Barreira Hematoaquosa , Contagem de Células , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Cápsula do Cristalino/citologia , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Uveíte Anterior/etiologiaRESUMO
PURPOSE: To evaluate the effects of posterior chamber implantation of phakic intraocular lenses on angle structures and the correlation with intraocular pressure (IOP). SETTING: Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria. METHODS: A Staar implantable contact lens (ICL) was implanted in 20 white patients (34 eyes) with high myopia. The patients were followed for a mean of 2.3 years (range 0.8 to 6.0 years). Two subgroups were created: One had a follow-up of 2.4 to 6.0 years and the other, 0.8 to 2.3 years. The mean spherical power of the implanted ICL was -16.8 diopters (D) (range -9.0 to -21.0 D). The angle structures were examined by gonioscopy using the Spaeth technique, and optical pachymetry and IOP were measured in dilated and undilated pupils. Trabecular pigmentation was measured semiquantitatively. The ICL models included a few prototypes (6 eyes), the V2 model (10 eyes), the V3 model (6 eyes), and the V4 model (12 eyes). RESULTS: The anterior chamber angle was between 11 and 20 degrees in 41% of eyes, between 21 and 30 degrees in 21%, larger than 30 degrees in 21%, and 10 degrees or smaller in 17%. An apparent iris root insertion was above Schwalbe's line in 6% of eyes, behind Schwalbe's line in 12%, at the scleral spur in 67%, and in a deep angle recess behind the scleral spur in 15%. The curvature of the iris was regular in 19 eyes and steep in 15 eyes. The mean pigmentation in all 4 quadrants was 1.3. (Grade 1 was defined as trace pigmentation.) The mean pachymetry from the endothelium to the ICL anterior surface was 2.7 mm and from the endothelium to the anterior surface of the crystalline lens, 3.2 mm. The mean IOP was 14.1 mm Hg in undilated pupils and 12.1 mm Hg in dilated pupils. There was no correlation between angle pigmentation and IOP. CONCLUSION: Trace pigmentation in the trabecular meshwork was common after ICL implantation. However, there was no direct influence on IOP. Long-term follow-up is necessary to evaluate the effect and progress of trabecular pigmentation in eyes with an ICL.
Assuntos
Iris/metabolismo , Implante de Lente Intraocular , Cristalino/fisiologia , Miopia/cirurgia , Malha Trabecular/metabolismo , Adulto , Feminino , Seguimentos , Gonioscopia , Humanos , Pressão Intraocular , Lentes Intraoculares , Masculino , Pessoa de Meia-Idade , Acuidade VisualRESUMO
PURPOSE: To evaluate the long-term difference in lens epithelial cell (LEC) outgrowth on the anterior surface of a hydrogel intraocular lens (IOL) after curettage of the entire or one half of the circumference of the anterior capsule. SETTING: Department of Ophthalmology, University of Vienna, Austria. METHODS: Forty eyes with senile cataract only were randomly assigned to Group A, which had curettage of the entire anterior capsule, or Group B, which had curettage of the nasal half of the anterior capsule. Rentsch capsule curettes (Geuder) were used, a straight one for the nasal half and a bent model for the temporal half. One surgeon performed all standardized procedures with a temporal clear corneal incision, phacoemulsification, and in-the-bag implantation of a hydrogel IOL. Two years after surgery, the anterior surface of the IOL was examined by specular microscopy in a double-blinded fashion, and LEC outgrowth was graded semiquantitatively. Anterior capsule opacification (ACO) was also graded semiquantitatively. RESULTS: In Group A, grade 2 ACO was observed in 53% of patients and grade 1 ACO in 47%. Similar results were achieved in Group B (59% and 41%, respectively). Two years after IOL implantation, the typically circumferential monolayer outgrowth of LECs on the hydrogel IOL surface was present in 80% in Group A and 60% in Group B. The ongrowth was less dense in the other IOLs; however, no significant differences between the groups were observed. CONCLUSIONS: Mechanical removal of residual LECs with a Rentsch capsule curette from the entire or from one half of the anterior capsule did not reduce LEC outgrowth 2 years after IOL implantation. Furthermore, the ACO grade was not significantly different. Lens epithelial cell proliferation in the germinative region and consecutive migration might be the cause of this outgrowth.
Assuntos
Catarata/etiologia , Curetagem , Células Epiteliais/patologia , Cápsula do Cristalino/patologia , Lentes Intraoculares , Idoso , Idoso de 80 Anos ou mais , Catarata/classificação , Catarata/diagnóstico , Divisão Celular , Método Duplo-Cego , Feminino , Humanos , Hidrogel de Polietilenoglicol-Dimetacrilato , Cápsula do Cristalino/cirurgia , Masculino , Pessoa de Meia-IdadeRESUMO
A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.
Assuntos
Síndrome de Down/genética , Mosaicismo/genética , Síndrome de Turner/genética , Criança , Feminino , HumanosRESUMO
BACKGROUND: The early postoperative inflammation after cataract surgery is mainly caused by surgical trauma. PATIENTS AND METHODS: 450 data-sheets of patients, who were operated for senile cataract with small-incision phacoemulsification and in-the-bag implantation of a foldable intraocular lens were retrospectively analysed. Postoperative inflammation was evaluated with the Laser Flare-Cell Meter Kowa FC-1000 on day 1, 3, 7 and 28. All the operations were done with the same phacomachine model Orbit Oertli. The absolute phacotime was measured, the data classified in steps of 20 seconds. Statistical analysis was made with the student's t-test. RESULTS: In the first postoperative week there is a statistical significant difference in the flare-values between the groups with short phacotime (up to 39 seconds) and the group with long phacotimes (over 80 seconds). One month after operation this significance was absent. CONCLUSIONS: The early postoperative inflammation is influenced by the duration of phacoemulsification. Surgical techniques and phacomachines that may reduce phacotime are helpful with respect to early postoperative inflammation.
Assuntos
Humor Aquoso/metabolismo , Proteínas do Olho/metabolismo , Inflamação/fisiopatologia , Facoemulsificação/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Barreira Hematoaquosa , Técnicas de Diagnóstico Oftalmológico , Humanos , Inflamação/etiologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
The serum levels and side effects of an acute oral loading dose-schedule of carbamazepine (CBZ) divitabs [CBZ controlled release (CR)] and phenytoin (PHT) were assessed in patients at risk of seizures. CBZ-CR and PHT were administered to 42 adult patients (21 each) at a dosage of 20 mg/kg with a minimum and maximum dosage of 1,200 and 1,600 mg in patients weighting < 60 and > 80 kg, respectively. CBZ-CR was given as single loading dose; PHT was split, with two thirds of the dose administered at 0 h and one third administered 2 h later. The 24- and 36-h doses were assessed according to the nystagmus status at 24 h. Mean CBZ serum levels (percentage of subjects with level > 4 micrograms/ml shown in parentheses) were 0.0 (0%), 5.2 (62%), 6.7 (81%), 6.8 (95%), and 6.1 micrograms/ml (95%) at 0, 4, 8, 24, and 48 h after loading, respectively, and mean PHT levels (percentage of subjects with PHT level > 10 micrograms/ml in parentheses) were 0.1 (0%), 13.2 (86%), 16.3 (100%), 16.3 (100%), and 15.4 micrograms/ml (82%). One subject in the CBZ group and 3 in the PHT group vomited. Clinical effects did not differ significantly between treatment groups and are reported. Acute doses of CBZ-CR 20 mg/kg and PHT 20 mg/kg (two-thirds at 0 h and one-third at 2 h) provided therapeutic levels in most patients in < or = 4 h and were well tolerated.
Assuntos
Carbamazepina/farmacocinética , Epilepsia/tratamento farmacológico , Fenitoína/farmacocinética , Administração Oral , Adolescente , Adulto , Idoso , Peso Corporal , Carbamazepina/administração & dosagem , Carbamazepina/farmacologia , Preparações de Ação Retardada , Método Duplo-Cego , Esquema de Medicação , Epilepsia/sangue , Epilepsia/prevenção & controle , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenitoína/administração & dosagem , Fenitoína/farmacologiaRESUMO
A South African family, at risk for the multiple endocrine neoplasia type 2A (MEN 2A) syndrome, was identified. The Bloemfontein MEN Study Group was founded, inter alia, to study the effects of early detection of medullary carcinoma of the thyroid (MTC) and treatment by total thyroidectomy in children and young adults with MEN 2A. Genotypes were identified by DNA probe and MTC diagnosed by basal and stimulated calcitonin levels. Between 1986 and 1989, 10 members of the family underwent total thyroidectomy and central lymph node dissection for MTC. There were 6 female and 4 male patients (mean age 22,0 years; range 10 - 35 years). Histological examination of the resected thyroid revealed MTC in all patients; 8 had bilateral disease and 2 unilateral. Lymph nodes were negative for MTC in all patients. None of the patients suffered injury to the recurrent nerve, while 1 experienced transient hypoparathyroidism postoperatively. Replacement therapy is maintaining thyroid hormone levels in all patients. Screening should probably begin at the age of 1 year, and total thyroidectomy should be performed when an elevated calcitonin level is observed.
Assuntos
Carcinoma/cirurgia , Neoplasia Endócrina Múltipla/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Adolescente , Adulto , Calcitonina/sangue , Criança , Feminino , Humanos , Masculino , Fatores de TempoRESUMO
We report our experience with a provocative test of calcitonin (CT) release using a combined stimulus of intravenous 10% CaCl2 solution and pentagastrin on 34 normal adults (15 females: age 41 +/- 12.3 years and range 22-65 years; and 19 males: age 43 +/- 9.1 years and range 23-60 years) and in 44 family members of three proven multiple endocrine neoplasia type 2A syndrome (MEN 2A) patients. A commercial radioimmunoassay was used to determine the serum CT levels. Peak CT levels were reached within 2 to 5 minutes after administration of the stimulus in all subjects tested. In the group of normal subjects there was no significant difference in the mean basal CT levels between males (54.8 +/- 21.7 pg/ml) and females (56.5 +/- 34.8 pg/ml), whilst the mean peak response values for males was 146.3 +/- 120.6 pg/ml, which was significantly different from the mean value of females, namely 71.6 +/- 39.0 pg/ml. We did not find significant correlations between the basal CT level, peak CT response, and age. Of the 44 family members tested, 9 showed an exaggerated CT response to the combined stimulus and subsequently had a total thyroidectomy. Histological examination confirmed C-cell hyperplasia (CCH) in one and medullary thyroid carcinoma (MTC) in the other 8. Three of the 9 had high basal plasma CT levels. The 9 patients were retested postoperatively and all showed a flat response to the combined stimulus. Those family members with histological proof of MTC or CCH were screened for genetic linkage to the disease gene for MEN 2A using probe MCK2, and showed correlation in each instance.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Calcitonina/metabolismo , Neoplasia Endócrina Múltipla/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Adolescente , Adulto , Idoso , Biomarcadores , Calcitonina/sangue , Cloreto de Cálcio/administração & dosagem , Criança , Estudos de Avaliação como Assunto , Feminino , Humanos , Hiperplasia/diagnóstico , Hiperplasia/genética , Hiperplasia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla/genética , Neoplasia Endócrina Múltipla/fisiopatologia , Linhagem , Pentagastrina/administração & dosagem , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/fisiopatologia , Radioimunoensaio , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/fisiopatologiaRESUMO
Multiple endocrine neoplasia type 2A (MEN 2A), an uncommon heritable disease, was investigated in an Afrikaner kindred. Serum calcitonin levels after combined pentagastrin and calcium chloride stimulation were measured to determine thyroid involvement, as were urinary metadrenalin levels to determine adrenal gland involvement. MEN 2A genotype status was determined using the DNA probe MCK2 (D10S15). The index patient, who showed both thyroid and adrenal gland involvement, died of phaeochromocytoma complications. Thirty-four of his 114 family members, in 4 generations, were investigated. Nine had positive histological and calcitonin tests and were predicted to be MEN 2A genotypes by DNA analysis. One asymptomatic individual had a positive calcitonin test after being predicted to be a MEN 2A genotype with the probe MCK2. In 3 DNA-positive cases calcitonin stimulation tests were negative. Preclinical detection of the heritable form of MEN 2A will be facilitated by utilising the DNA probe MCK2 to determine carrier status in this large South African family. It is also the first South African family in which biochemical and molecular genetic techniques were used to facilitate diagnosis.
Assuntos
Neoplasia Endócrina Múltipla/genética , Adolescente , Adulto , Idoso , Calcitonina/análise , Criança , Sondas de DNA , Epinefrina/urina , Feminino , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla/metabolismo , Hormônio Paratireóideo/sangue , Linhagem , África do SulRESUMO
A multidisciplinary group was formed to advise on strategy and to co-ordinate the management of a family at risk for the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. A proposed strategy is outlined in which DNA analysis and provocative calcitonin testing is central.