1/10. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.BACKGROUND: Two genetic forms of hereditary angioedema (HAE) are currently recognized. Both are transmitted in an autosomal dominant manner and are characterized by recurrent episodes of localized angioedema. Involvement of the gut leads to episodes of severe abdominal pain, and laryngeal involvement can lead to airway obstruction and even death. One type results from heterozygosity for a nonexpressed C1 inhibitor allele, and the other results from heterozygosity for a nonfunctional C1 inhibitor allele. OBJECTIVE: This report identifies a third type of HAE, with a unique estrogen-dependent phenotype. methods: Detailed medical histories were obtained from family members, and a pedigree was constructed to ascertain the mode of inheritance. Determination of serum complement factors, C1 inhibitor protein, C1 inhibitor function, coagulation factor xii, plasma prekallikrein, high molecular weight kininogen, and selected dna sequences were performed in affected members by using standard assays. RESULTS: Episodes of angioedema were clinically indistinguishable from those associated with previously described forms of HAE; however, these occurred only during pregnancy or the use of exogenous estrogens. patients were otherwise asymptomatic, except for one patient who had acetyl salicylic acid/nonsteroidal anti-inflammatory drug-related angioedema later in life. history was available for members spanning 4 generations, and affected individuals were identified in 3 generations. Of 46 family members, phenotype could be determined in 13 members. Seven were affected, and 6 were not. One male of undetermined phenotype was an obligate carrier. The unique estrogen-dependent nature of the phenotype means that the status of several members in the third and fourth generation remains unknown. The disorder appears to be transmitted in an autosomal dominant fashion, although other modes of inheritance cannot be excluded entirely. C1 inhibitor protein, C1 inhibitor function, C2, C4, C1q, coagulation factor xii, prekallikrein, and high molecular kininogen were normal in 3 affected family members during asymptomatic periods. dna sequencing revealed no abnormality in 3 patients in the coding region of the gene encoding C1 inhibitor or in the 5' flanking regions of the genes encoding C1 inhibitor and factor xii. CONCLUSIONS: This family appears to have a novel form of inherited angioedema that does not result from C1 inhibitor deficiency or dysfunction. The phenotype is uniquely estrogen dependent. Implications for diagnosis and treatment are discussed. Further studies are required to define the exact nature of the genetic abnormality involved.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/10. Placenta percreta with bladder invasion as a cause of life threatening hemorrhage.PURPOSE: Abnormal placental penetration through the myometrium with bladder invasion is a rare obstetric complication with potential for massive blood loss. Urologists are usually consulted after a life threatening emergency has already arisen. Their familiarity with this condition is crucial for effective management. We describe 2 cases of placenta percreta with bladder invasion to highlight the catastrophic nature of this clinical entity, and review the literature on current diagnostic and management strategies. MATERIALS AND methods: Between 1986 and 1998, 250 cases of adherent placenta (0.9%) were identified in 25,254 births at our institution, including 2 (0.008%) of placenta percreta with bladder invasion. We treated these 2 multiparous women who were 33 and 30 years old, respectively. Each had undergone 2 previous cesarean sections. RESULTS: Presenting symptoms were severe hematuria in 1 patient and prepartum hemorrhage with shock in the other. Ultrasound showed complete placenta previa in each with evidence of bladder invasion in 1 patient. hysterectomy, bladder wall resection and repair, and bilateral internal iliac artery ligation were required to control massive intraoperative hemorrhage. The patients received 22 and 15 units of packed red blood cells, respectively. fetal death occurred in each case. convalescence was complicated by disseminated intravascular coagulation in patient 1 but subsequent recovery was uneventful. CONCLUSIONS: A high index of suspicion for placenta percreta with bladder invasion is required when evaluating pregnant women with a history of cesarean delivery and placenta previa who present with hematuria and lower urinary tract symptoms. ultrasonography and magnetic resonance imaging may assist in establishing the diagnosis preoperatively. With proper planning and a multidisciplinary approach fetal and maternal morbidity and mortality may be decreased.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
3/10. Phaeochromocytoma by way of case reports.Endocrine causes of hypertension are relatively rare, but their detection offers a real chance for cure. This is particularly true of phaeochromocytoma, a catecholamine-producing tumour derived from chromaffin tissue, which, if left undetected, is invariably fatal. The lethal nature of this tumour is dependent on two major characteristics: firstly, its ability to secrete catecholamines in excess, resulting in potentially catastrophic consequences; and, secondly, its malignant potential. Approximately 5-10% of these tumours are malignant, which, if metastasised, are generally refractory to treatment. Clearly, however, because only one in 1,000 hypertensives is likely to harbour a phaeochromocytoma, it is not cost-effective option to screen all hypertensives for this cause. Rather, a selective approach is preferred in which a high index of suspicion for the clinical characteristics of this tumour is used to guide the physician. The following two case reports derived from our records at Chris Hani Baragwanath Hospital will illustrate many issues related to diagnosis and management of this fascinating tumour.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
4/10. Massive multicystic dilatation of the uterine wall with myometrial venous thrombosis during pregnancy.We present a pregnancy complicated by multicystic dilatation of the uterine wall during the second trimester, leading to massive uterine distension, anemia and preterm cesarean section. The cystic changes detected by ultrasound and magnetic resonance imaging involved the whole uterine wall surrounding the entire amniotic cavity. Histopathological examination revealed the benign nature of the cystic changes, which represented dilated and thrombosed venous lacunae. Disturbed venous drainage, combined with local thrombosis, was likely to have led to the collection of a large volume of blood in the uterine wall and the subsequent multicystic change of the myometrium.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
5/10. Ruptured sinus of valsalva aneurysm in a pregnant woman.A ruptured sinus of valsalva aneurysm is a rare cardiac anomaly, usually of a congenital nature. There are few documented cases of this condition during pregnancy, which renders unclear the therapeutic options. We report the case of a 35-year-old pregnant woman who presented at the hospital for cardiac evaluation due to the presence of a heart murmur. The patient was asymptomatic and in her 4th month of pregnancy. Transthoracic echocardiography revealed a ruptured sinus of Valsalva aneurysm and a fistula to the right ventricle with evidence of a continuous left-to-right shunt.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
6/10. Peripartum cardiomyopathy: two case reports and a review.Peripartum cardiomyopathy is a myocardial disease of a dilatative (congestive) nature which typically presents in the last month of pregnancy or within the first 5 postpartum months. In the first case described, heart failure was noted prior to delivery, and complete recovery was achieved with early and aggressive management. Cardiomyopathy developed postpartum in the second case, with a fatal outcome. early diagnosis and prompt treatment are of paramount importance. mortality is still high. Recent pathologic findings, methods of diagnosis and theories on etiology are discussed.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
7/10. Postpartum acute myocardial infarction: a rare occurrence of uncertain etiology.Two women who had an acute myocardial infarction during the early postpartum period are described, and the findings in nine other women previously reported on are summarized. attention is called to the atypical nature of ischemic heart disease and myocardial infarction in these patients when compared with myocardial infarction during pregnancy and with ischemic heart disease in men. Postpartum infarcts most often occur in women in their 20s during their first pregnancy, frequently a pregnancy complicated by the preeclampsia-eclampsia syndrome, and are associated with a high mortality rate. In one of our patients and one patient previously reported on, the results of coronary arteriography were normal, suggesting that coronary arterial thromboembolism or spasm was a cause of the infarction. Because postpartum myocardial infarction may be unrelated to atherosclerotic narrowing, detailed angiographic studies in such patients appear warranted. These cases indicate the variety and complexity of ischemic heart disease in women.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
8/10. Recurrent intracardiac mass in a pregnant woman with antiphospholipid syndrome.Clinical manifestations of the antiphospholipid syndrome result from thromboembolic phenomena that occur in all vascular territories. Cardiac manifestations frequently associated with this syndrome include valvular and myocardial lesions. We present a case report of primary antiphospholipid syndrome in a pregnant young woman with a right atrial mass detected by echocardiography. Its morphological characteristics presented problems in establishing differential diagnosis within atrial thrombus and atrial myxoma. This case was complicated by pulmonary embolism and recurrence of the mass within four months. Cardiac surgery was performed and two masses excised. Histopathological studies showed them to be thrombotic in nature.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
9/10. Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)A new variant of antithrombin (Rouen-VI, 187 Asn-->Asp) with increased heparin affinity was shown to have normal inhibitory activity which decreased slowly at 4 degrees C and rapidly at 41 degrees C. On electrophoresis the freshly isolated variant had an anodal shift relative to native antithrombin due to the mutation. A further anodal transition occurred after either prolonged storage at 4 degrees C or incubation at 41 degrees C due to the formation of a new inactive uncleaved component with properties characteristic of L-form (latent) antithrombin. At the same time, polymerization also occurred with a predominance of di-, tri-, and tetra-mers. These findings fit with the observed mutation of the conserved asparagine (187) in the F-helix destabilizing the underlying A-sheet of the molecule. Evidence of A-sheet perturbation is provided by the increased rate of peptide insertion into the A-sheet and by the decreased vulnerability of the reactive loop to proteolysis. The spontaneous formation of both L-antithrombin and polymers is consistent with our crystal structure of intact antithrombin where L-form and active antithrombin are linked together as dimers. The nature of this linkage favors a mechanism of polymerization whereby the opening of the A-sheet, to give incorporation of the reactive center loop, is accompanied by the bonding of the loop of one molecule to the C-sheet of the next. The accelerated lability of antithrombin Rouen-VI at 41 versus 37 degrees C provides an explanation for the clinical observation that episodes of thrombosis were preceded by unrelated pyrexias.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
10/10. Angiotensin-converting enzyme inhibitor fetopathy.Angiotensin-converting enzyme (ACE) inhibitors are widely used for controlling hypertension. Their use in women who are pregnant is not without risk to the fetus. We describe three infants exposed in utero to ACE inhibitors who had adverse outcomes. These cases, combined with other reports in the literature, suggest strongly that these drugs are fetotoxic. ACE inhibitor fetopathy is characterized by fetal hypotension, anuria-oligohydramnios, growth restriction, pulmonary hypoplasia, renal tubular dysplasia, and hypocalvaria. Although the true frequency of adverse fetal effects has yet to be determined, because of the debilitating and lethal nature of the fetal damage when it occurs, it is our recommendation that ACE inhibitors not be used in pregnancy, particularly in the second and third trimesters.- - - - - - - - - - ranking = 0.5keywords = nature (Clic here for more details about this article) |
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