RESUMO
Congenital dyserythropoietic anemia type I (CDAI) is an autosomal recessive inherited haematological disorder associated with moderate-to-severe anemia characterized by ineffective erythropoiesis with distinct morphological abnormalities in erythroid precursors. We present two case of congenital dyserythropoietic anemia type I in two Sicilian patients heterozygous for ß0 39 globin gene cod 39 C > T with marked bone marrow abnormalities, responding to treatment with alpha interferon. The diagnosis was established using routine haematological and biochemical test, light and electron microscopy; molecular analysis of the CDAN1 gene associated to the CDAI disease was performed. The response to the treatment was monitored using the hemoglobin levels, the red cell count, the reticulocyte count and the transfusional requirement. This report points out the usefulness of the treatment with interferon alpha in two Sicilian beta thalassemia carriers, in which the therapy was well tolerated without producing any side effects; in these patients the transfusion requirements after the initiation of interferon therapy decreased.
RESUMO
Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for ß (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus' brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis.
RESUMO
A hemiparetic and aphasic patient, 3 days after acute traumatic transection of the left internal carotid artery requiring life-saving total embolic occlusion, revealed ipsilateral increased peripheral hemispheric 99mTc-HMPAO activity. Ten days postocclusion, HMPAO peripheral cortical flow normalized as hemiparesis and aphasia significantly cleared. The initial lateralized HMPAO hyperactivity pattern may reflect reactive hyperemia, a sign previously identified by contrast angiography and often associated with a better prognosis in evolving CVA. Evanescent peripheral cerebral hyperemia may represent beneficial cortical collateralization of the periinfarct area of a deeper lacunar (white matter) CVA.
Assuntos
Lesões das Artérias Carótidas , Córtex Cerebral/irrigação sanguínea , Córtex Cerebral/diagnóstico por imagem , Embolização Terapêutica , Compostos de Organotecnécio , Oximas , Tomografia Computadorizada de Emissão de Fóton Único , Ferimentos por Arma de Fogo/terapia , Afasia de Broca/etiologia , Artéria Carótida Interna/diagnóstico por imagem , Circulação Cerebrovascular , Embolização Terapêutica/efeitos adversos , Embolização Terapêutica/métodos , Hemiplegia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Tecnécio Tc 99m Exametazima , Ferimentos por Arma de Fogo/diagnóstico por imagemRESUMO
The role of the radiologist in the management of urologic disease has changed dramatically in the last 10 years with the introduction of new imaging methods and the evolution of the angiographic catheter into a therapeutic instrument. The authors review the diagnostic options in genitourinary trauma, the indications for and techniques of transcatheter arterial embolization for renal and other retroperitoneal hemorrhage, and nonvascular interventions such as antegrade nephrostomy, stenting of urethral disruptions, percutaneous bladder drainage, and drainage of abscesses, hematomas, and urinomas.
Assuntos
Genitália/lesões , Sistema Urinário/lesões , Embolização Terapêutica , Genitália/diagnóstico por imagem , Hemorragia/terapia , Humanos , Rim/lesões , Espaço Retroperitoneal , Ureter/lesões , Urografia , Ferimentos não Penetrantes/terapia , Ferimentos Penetrantes/terapiaRESUMO
This article addresses in detail the newer role for interventional angiography, including diagnosis and newer angioembolization techniques used to control bleeding and to deal with complications of vascular injuries.
Assuntos
Vasos Sanguíneos/lesões , Radiografia Intervencionista/métodos , Angiografia/métodos , Técnicas Hemostáticas , Humanos , Perna (Membro)/irrigação sanguínea , Pescoço/irrigação sanguíneaRESUMO
The condition of patients sustaining penetrating neck trauma often appears deceptively stable, even when major structures have been injured. The clinician must identify patients who require treatment and limit invasive procedures in those without significant injuries. Angiography is often used to search for vascular damage following penetration of the neck and face. The charts of 401 hemodynamically stable patients with penetrating cervicofacial wounds who were evaluated by angiography followed, when necessary by either transcatheter arterial embolization and observation or surgery were reviewed. One hundred twelve patients (27.9%) had 131 vascular injuries identified by angiography; 77 (68.8%) of these patients sustained injuries to zone III of the neck or the face. The most commonly injured vessels were the internal carotid artery (ICA), the vertebral artery, and the external carotid artery (ECA) system. Multiple vessel injuries were seen in 17 (15.2%) of 112 patients and were more likely in patients with wounds in zone III or above than in those wounded in zone II or below (20.8% vs. 2.9%, respectively; P < .025). Injuries to the internal maxillary artery (IMA) (60%), ECA (53.3%), and the ICA (30.8%) were also significantly more likely to be accompanied by additional vascular injuries (P < .005). No clinically significant venous injuries were missed. Complications were noted in only 4 patients, and no deaths occurred as a result of angiography. Angiography is a safe, effective modality in the head and neck trauma setting. Particular scrutiny should be given to patients with zone III or facial wounds, particularly those with documented ICA, IMA, and ECA injuries, since these patients have a higher incidence of multiple vascular injuries.
Assuntos
Traumatismos Craniocerebrais/terapia , Embolização Terapêutica , Lesões do Pescoço , Pescoço/irrigação sanguínea , Ferimentos Penetrantes/terapia , Vasos Sanguíneos/lesões , Lesões das Artérias Carótidas , Artéria Carótida Externa/diagnóstico por imagem , Artéria Carótida Externa/cirurgia , Artéria Carótida Interna/diagnóstico por imagem , Cateterismo , Traumatismos Craniocerebrais/diagnóstico por imagem , Embolização Terapêutica/métodos , Humanos , Pescoço/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/lesõesRESUMO
Because the diagnosis of a traumatic rupture of the aorta can be subtle, a high index of clinical suspicion must be maintained to arrive at a prompt and correct diagnosis. When chest radiography shows that the mediastinum is greater than 8 cm in width or that the arch or descending aorta are obscured, direct transfemoral arteriography remains the procedure of choice in hemodynamically stabilized patients. At the present time, computed tomography is not recommended as a definitive diagnostic modality.
Assuntos
Ruptura Aórtica/diagnóstico por imagem , Adulto , Aorta Torácica/anatomia & histologia , Aorta Torácica/fisiologia , Aortografia/métodos , Medicina de Emergência , Humanos , Masculino , Tomografia Computadorizada por Raios XRESUMO
A case of foreign body perforation of the stomach is reported. Complications of foreign bodies in the gastrointestinal tract and their management are discussed.
Assuntos
Corpos Estranhos/complicações , Estômago/lesões , Adulto , Humanos , Masculino , Radiografia , Estômago/diagnóstico por imagemRESUMO
Despite the widespread availability of firearms, stab wounds to the abdomen, back, and flank continue to account for a significant number of injuries. The proper sequencing of diagnostic modalities in this patient group is constantly undergoing change. We report our experience with these injuries and present a new algorithm for the use of currently available diagnostic procedures. In 1987, 162 patients were seen, 103 with anterior abdominal wounds and 59 with back and flank wounds. Patients with shock, peritonitis, and evisceration were resuscitated and explored. The remainder of the cohort underwent tap and lavage, and patients with a negative study were observed. Patients with back and flank wounds underwent contrast enhanced computerized tomographic enemas (CECTE). Seventeen patients underwent immediate exploration and 108 of the 162 patients were spared exploration. Fifty-four patients were explored with six negative laparotomies. Of the 126 taps and lavages, the false positive rate was zero, and only one patient had a false negative study. Of the 47 CECTE studies, only three were interpreted as an indication for angiography which proved negative, and all patients were safely observed. The overall mortality was 4.3%, including three patients without vital signs on admission and four who expired intraoperatively due to irreversible shock. We concluded that this algorithm can be safely applied to patients with these injuries with a high degree of specificity and sensitivity.
Assuntos
Traumatismos Abdominais/diagnóstico , Lesões nas Costas , Ferimentos Perfurantes/diagnóstico , Algoritmos , Meios de Contraste , Enema , Humanos , Laparotomia , Lavagem Peritoneal , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios XAssuntos
Implante de Prótese Vascular/métodos , Artéria Renal/lesões , Stents , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos não Penetrantes/terapia , Traumatismos Abdominais/complicações , Traumatismos Abdominais/diagnóstico , Traumatismos Abdominais/terapia , Acidentes de Trânsito , Adulto , Aortografia , Terapia Combinada , Embolização Terapêutica/métodos , Feminino , Seguimentos , Humanos , Artéria Renal/diagnóstico por imagem , Medição de Risco , Fatores de Tempo , Resultado do Tratamento , Ferimentos não Penetrantes/etiologiaAssuntos
Ileíte/complicações , Testículo/irrigação sanguínea , Trombofilia/complicações , Trombose/etiologia , Doença Aguda , Adulto , Diagnóstico Diferencial , Hidratação , Humanos , Ibuprofeno/uso terapêutico , Cetorolaco de Trometamina/uso terapêutico , Masculino , Inibidores da Agregação Plaquetária/uso terapêutico , Pressão , Trombose/terapia , Tomografia Computadorizada por Raios X , Varfarina/uso terapêuticoRESUMO
A retrospective analysis of the ankle radiographs of 86 patients with disruptions of the distal tibiofibular syndesmotic ligaments and comparison with radiographs of 100 patients with normal ankles revealed several findings useful in identifying these lesions. These observations included location and character of lateral malleolar or fibular fractures, avulsions of the tibial or fibular syndesmotic attachments, talar tilt or displacement, and distortion of the normal tibiofibular and tibiotalar relationships. Injuries to the ligamentous support of the ankle may be subtle and overlooked. Recognition of these findings and an understanding of the mechanisms of injury will facilitate radiologic diagnosis of syndesmotic injuries and will allow for surgical repair to prevent potential complications.
Assuntos
Traumatismos do Tornozelo , Ligamentos Articulares/lesões , Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/diagnóstico por imagem , Fíbula/lesões , Fraturas Ósseas/complicações , Humanos , Ligamentos Articulares/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Fraturas da Tíbia/complicaçõesRESUMO
A case of bilateral renal artery injury diagnosed by computed tomography is reported. The findings, absence of renal enhancement and excretion and a cortical rim sign, are specific for renal vascular injury. Immediate exploration should be performed as angiographic confirmation of the CT diagnosis is not necessary.
Assuntos
Artéria Renal/lesões , Tomografia Computadorizada por Raios X , Adulto , Humanos , Masculino , Artéria Renal/diagnóstico por imagem , Trombose/etiologiaRESUMO
Acute dissection of the abdominal aorta or common iliac arteries after blunt trauma is a very rare injury. We present an unusual case of acute traumatic dissection of the common iliac arteries. To our knowledge, this is the first reported case of acute traumatic dissection of the iliac arteries with ultimate spontaneous healing.
Assuntos
Dissecção Aórtica/etiologia , Artéria Ilíaca/lesões , Acidentes por Quedas , Doença Aguda , Adulto , Dissecção Aórtica/diagnóstico por imagem , Humanos , Artéria Ilíaca/diagnóstico por imagem , Masculino , Radiografia , Remissão Espontânea , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos não Penetrantes/etiologiaRESUMO
The radiologic management of lower genitourinary trauma requires that practitioners be familiar with a wide variety of imaging modalities including retrograde urethrography and cystography, scrotal ultrasonography, and corpus cavernosography. These conventional examinations will provide accurate and clinically relevant data if they are performed using techniques appropriate for the patient.
Assuntos
Sistema Urogenital/lesões , Urografia , Humanos , Masculino , Métodos , Pênis/diagnóstico por imagem , Pênis/lesões , Testículo/lesões , Ultrassonografia , Ureter/diagnóstico por imagem , Ureter/lesões , Uretra/diagnóstico por imagem , Uretra/lesões , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/lesões , Ferimentos por Arma de Fogo/diagnóstico por imagem , Ferimentos Perfurantes/diagnóstico por imagemRESUMO
Computed tomography is the diagnostic procedure of choice for the evaluation of significant blunt abdominal trauma. It not only assesses the extent and character of renal injury, but also identifies the presence of intraperitoneal hemorrhage and parenchymal injury. It allows the best opportunity to diagnose and salvage the injured renal pedicle, and to discover the pathologic renal injury. Urography should be reserved for use in patients with penetrating abdominal trauma and isolated renal trauma.
Assuntos
Rim/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Criança , Contusões/diagnóstico por imagem , Hematoma/diagnóstico por imagem , Hemorragia/diagnóstico por imagem , Humanos , Rim/lesões , Nefropatias/diagnóstico por imagem , MasculinoRESUMO
Interventional radiology is used most often in the management of the trauma patient to control hemorrhage and drain fluid collections. Transcatheter arterial embolization is an effective, expeditious, and safe technique for the nonoperative control of renal and other retroperitoneal bleeding, arteriovenous fistulas, and pseudoaneurysms. Transcatheter drainage of renal and other retroperitoneal collections of pus, urine, and blood is successful in more than 90% of trauma patients; such drainage should be attempted prior to any surgical intervention. Other procedures, such as antegrade nephrostomy, ureteral stenting and dilatation, angioplasty of traumatic renal artery stenosis, and suprapubic cystostomy, are infrequently indicated but provide alternatives to standard surgical intervention.
Assuntos
Rim/diagnóstico por imagem , Adolescente , Adulto , Idoso , Cateterismo , Criança , Embolização Terapêutica , Feminino , Fraturas Ósseas/complicações , Hemorragia/diagnóstico por imagem , Hemorragia/etiologia , Hemorragia/terapia , Humanos , Rim/lesões , Masculino , Pessoa de Meia-Idade , Nefrostomia Percutânea , Pelve/lesões , Radiografia , Artéria Renal/diagnóstico por imagem , Artéria Renal/lesões , Espaço Retroperitoneal/diagnóstico por imagemRESUMO
A case of perigastric adhesions that were caused by a gunshot wound and that simulated scirrhous carcinoma is described.
Assuntos
Gastropatias/diagnóstico por imagem , Estômago/lesões , Ferimentos por Arma de Fogo/complicações , Adenocarcinoma Esquirroso/diagnóstico por imagem , Adulto , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/etiologia , Diagnóstico Diferencial , Humanos , Masculino , Radiografia , Gastropatias/etiologia , Neoplasias Gástricas/diagnóstico por imagem , Aderências Teciduais/diagnóstico por imagem , Aderências Teciduais/etiologiaRESUMO
Obtaining proximal and distal control is essential in the repair of arterial injuries. Occasionally, the location of the injury makes this difficult, risks excessive blood loss, or requires wide exposure to obtain control. Recently, we have used percutaneously placed balloons as an aid to vascular control in 11 patients who had arterial injuries identified angiographically. The balloon is placed under fluoroscopic guidance and is then deflated. The balloon is reinflated intraoperatively at the time vascular control is needed. Five balloons were placed for inflow control in patients with very proximal subclavian artery injuries. All were then able to undergo successful repair through a limited supraclavicular incision without sternotomy or thoracotomy. Two were placed in the internal carotid artery to obtain distal control in injuries located at the base of the skull. Both injuries were then repaired without problems. Two patients had balloons placed for external iliac artery injuries located at the inguinal ligament, one for proximal and one for distal control. Both injuries were then repaired through a limited incision. Two additional patients who had arterial injuries identified began to bleed massively while in the angiography suite. Balloons were placed proximally to control bleeding during transport and dissection. There were no complications from balloon placement. All balloons functioned well, greatly limited blood loss, and allowed for repair through a limited incision. We feel this is a technique that can be utilized in selected cases of angiographically identified arterial injuries in which operative exposure is likely to be difficult, cause significant blood loss, or require an extensive incision and dissection.
Assuntos
Angiografia , Artérias/lesões , Cateterismo , Técnicas Hemostáticas , Adulto , Lesões das Artérias Carótidas , Artéria Carótida Interna/diagnóstico por imagem , Hemorragia/terapia , Hemostasia Cirúrgica/métodos , Humanos , Artéria Ilíaca/diagnóstico por imagem , Artéria Ilíaca/lesões , Masculino , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/lesões , Ferimentos e Lesões/diagnóstico por imagem , Ferimentos e Lesões/terapiaRESUMO
Presacral hemorrhage commonly accompanies fractures of the posterior pelvic ring. The source of this bleeding is the fractured cancellous bone and supporting ligamentous structures of the sacrum and sacroiliac joint. The radiologic appearance is of granular and punctate contrast accumulations due to extravasation from the iliolumbar and lateral sacral branches of the hypogastric artery. This bleeding can be controlled by small particle embolotherapy provided care is taken not to bypass the posterior division of the hypogastric artery.