11/1210. A case of vasospastic angina presenting Brugada-type ECG abnormalities.An electrophysiological study and a provocative test of coronary artery spasm was attempted in a 68-year-old man who was having syncopal attacks and chest pain. His electrocardiogram had the characteristics of brugada syndrome and ventricular fibrillation (VF) was induced by programmed electrical stimulation. ST-segment elevation became exaggerated by procainamide, which could not prevent the induction of VF. coronary angiography revealed no stenotic lesions, and spasm in the left coronary artery was induced by intracoronary administration of acetylcholine with similar chest pain to that experienced before. Under treatment with diltiazem and flecainide, which suppressed the induction of VF, the patient experienced no recurrence of symptoms despite persistent ST-segment elevation. No previous reports have described coronary spasm associated with Brugada-type ECG abnormalities, and patients with syncope should be evaluated carefully.- - - - - - - - - - ranking = 1keywords = artery (Clic here for more details about this article) |
12/1210. Successful unrelated umbilical cord blood transplantation in a child with Omenn's syndrome.Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day 34. His follow-up has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.- - - - - - - - - - ranking = 0.82357792866248keywords = umbilical (Clic here for more details about this article) |
13/1210. Hughes-Stovin syndrome: a case report and review of the literature.A young man presented with prolonged pyrexia, recurrent optic neuritis, thrombophlebitis and bilateral pulmonary artery aneurysms with thrombus formation. The life-threatening hemoptysis necessitated mechanical ventilatory support and emergency left lower lobectomy. Systemic corticosteroids conferred clinical improvement and reduction of the remaining right pulmonary artery aneurysm. The patient eventually succumbed to sudden massive hemoptysis. This report underscores the unpredictable nature of this syndrome and emphasises the need for aggressive surgical intervention of pulmonary artery aneurysms in Hughes-Stovin syndrome.- - - - - - - - - - ranking = 1.5keywords = artery (Clic here for more details about this article) |
14/1210. duodenum inversum mimicking mesenteric artery syndrome.BACKGROUND: duodenum inversum is an often unrecognized anomaly of duodenal rotation/fixation at upper gastrointestinal (UGI) contrast study because the duodenojejunal junction appears normally located. OBJECTIVE: This anomaly is important to diagnose because it may result in obstructive gastrointestinal symptoms. CONCLUSION: We describe a case of duodenum inversum mimicking superior mesenteric artery (SMA) syndrome that improved after surgical therapy.- - - - - - - - - - ranking = 2.5keywords = artery (Clic here for more details about this article) |
15/1210. Marked increase in flow velocities during deep expiration: A duplex Doppler sign of celiac artery compression syndrome.Symptoms of chronic mesenteric ischemia develop when the celiac artery is constricted by the median arcuate ligament of the diaphragm. Lateral aortography is the primary modality for diagnosing ligamentous compression of the celiac artery. However, duplex Doppler sonography performed during deep expiration can cause a marked increase in flow velocities at the compressed region of the celiac artery and suggest the diagnosis of celiac arterial constriction due to the diaphragmatic ligament.- - - - - - - - - - ranking = 3.5keywords = artery (Clic here for more details about this article) |
16/1210. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis. The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK. This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408. We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.- - - - - - - - - - ranking = 0.11549530012264keywords = single (Clic here for more details about this article) |
17/1210. A case with Weaver syndrome operated for congenital cardiac defect.An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.- - - - - - - - - - ranking = 0.20589448216562keywords = umbilical (Clic here for more details about this article) |
18/1210. Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.- - - - - - - - - - ranking = 2.5keywords = artery (Clic here for more details about this article) |
19/1210. Acrochordons are not a component of the birt-hogg-dube syndrome: does this syndrome exist? case reports and review of the literature.Multiple fibrofolliculomas, trichodiscomas, and acrochordons compose the triad of cutaneous lesions characterizing the birt-hogg-dube syndrome, inherited in an autosomal dominant fashion. We report a case of a family who had the triad of tumors of the birt-hogg-dube syndrome. Two members were observed clinically and histologically. Biopsies of the facial papules disclosed features of the fibrofolliculoma/trichodiscoma spectrum. Lesions that were clinically acrochordon-like proved to correspond to the same histopathologic spectrum. The characterization of the nature of the acrochordon-like lesions in our patients and the review of the literature allow us to question if acrochordons (skin tags) should be maintained as a component of this association. In light of our conclusion that fibrofolliculoma, trichodiscoma, and the acrochordon-like lesions are histologic variations of a single lesion, we further question whether the term "syndrome" is valid.- - - - - - - - - - ranking = 0.05774765006132keywords = single (Clic here for more details about this article) |
20/1210. Neurofibromatosis, stroke and basilar impression. Case report.Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.- - - - - - - - - - ranking = 0.5keywords = artery (Clic here for more details about this article) |
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